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Wireless capsule endoscopy in adolescents with familial adenomatous polyposis

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Wireless capsule endoscopy in adolescents with familial adenomatous polyposis

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Guidelines for surveillance in patients with familial adenomatous polyposis (FAP) recommend mutation carriers to undergo periodic colorectal examination starting in the early teens. Performing colonoscopy in children may lead to complications. Wireless capsule endoscopy (WCE) has been introduced recently to evaluate both the upper and lower gastrointestinal tract, and seems suitable as a first screening examination for adolescents. The aim of this study was to evaluate the pros and cons of WCE. This was a retrospective review of a single institution database of adolescent patients with FAP identified through the Hereditary Colorectal Tumor Registry between 2007 and 2013. The main outcomes were identification of upper and lower gastrointestinal tract polyps, tolerance of the examination, and number and size of polyps. Of 46 adolescent patients with FAP, 14 (30.4%) patients carrying adenomatous polyposis coli gene (APC) mutation, 6 male and 8 female, age (median, range) 12 (10-17) years, body mass index 19 (13-24), underwent WCE as first screening examination. The examination was completed in 13 patients (93.3%). Wireless capsule endoscopy identified the duodenal papilla in 4 patients and colonic and rectal polyps in all 13 patients. In 7 patients, fewer than 25 polyps were identified. No complications were recorded related to the use of the video capsule. Wireless capsule endoscopy is feasible and well-tolerated as a first screening examination in adolescent patients. It cannot be used as alternative to the colonoscopy, but could improve compliance with colonoscopy, and increase early adherence to a surveillance program.
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© 2015 INTM, Italy. Published by Wichg Publishing
TJ
ISSN 0300-8916
Tumori 2015; 00(00): 000-000
ORIGINAL RESEARCH ARTICLE
colorectal cancers (CRC), more oen in the third or fourth
decade of life (2). For this reason, paents with FAP should
be counseled about cancer risk and addressed to a sur-
veillance program. The surveillance program for mutaon
carriers should start at the age of 10-12 years, foreseeing
colonoscopy at 2-year intervals unl adenoma appearance.
Once adenomas occur, paents need endoscopic surveil-
lance every year (1-3), with the aim of prevenng progres-
sion of adenomas to cancer, unl prophylacc surgery (4).
Surgery is essenal to prevent the development of CRC (5, 6).
Timing and type of surgery generally depend on the severity
of the disease. Prophylacc colectomy is recommended in
paents with more than 20 adenomas, high-grade dysplasia,
or adenomas larger than 3 cm (7), and surgery is done as
soon as possible (8).
Surveillance in adolescent paents is a crical issue,
especially owing to the great invasiveness of endoscopic pro-
cedures. Monitoring mucosal status with esophageal gastro-
duodenal scope and colonoscopy can cause inconvenience,
DOI: 10.5301/tj.5000390
Wireless capsule endoscopy in adolescents
with familial adenomatous polyposis
Debora Cavallo1, Giovanni Ballardini2, Andrea Ferrari3, Gabriele Delconte2, Stefano Signoroni4, Paola Sala4,
Stefano Chiaravalli3, Maura Massimino3, Lucio Bertario4, Marco Vitellaro1,4
1 Colorectal Surgery Unit, Department of Surgery, Fondazione IRCCS Istuto Nazionale dei Tumori, Milan - Italy
2 Diagnosc and Surgical Endoscopy Unit, Department of Surgery, Fondazione IRCCS Istuto Nazionale dei Tumori, Milan - Italy
3 Pediatric Oncology, Department of Medicine, Fondazione IRCCS Istuto Nazionale dei Tumori, Milan - Italy
4 Hereditary Digesve Tract Tumors Unit, Department of Prevenve and Predicve Medicine, Fondazione IRCCS Istuto Nazionale dei Tumori,
Milan - Italy
Introducon
Familial adenomatous polyposis (FAP) is an autosomal
dominant disorder caused by germline mutaons in the APC
gene. It is characterized by the development of hundreds to
thousands of adenomatous colorectal polyps during child-
hood and adolescence (1). If untreated, FAP almost invari-
ably progresses toward the development of one or more
ABSTRACT
Aims and background: Guidelines for surveillance in paents with familial adenomatous polyposis (FAP) recom-
mend mutaon carriers to undergo periodic colorectal examinaon starng in the early teens. Performing colo-
noscopy in children may lead to complicaons. Wireless capsule endoscopy (WCE) has been introduced recently
to evaluate both the upper and lower gastrointesnal tract, and seems suitable as a rst screening examinaon
for adolescents. The aim of this study was to evaluate the pros and cons of WCE.
Methods: This was a retrospecve review of a single instuon database of adolescent paents with FAP iden-
ed through the Hereditary Colorectal Tumor Registry between 2007 and 2013. The main outcomes were iden-
caon of upper and lower gastrointesnal tract polyps, tolerance of the examinaon, and number and size of
polyps.
Results: Of 46 adolescent paents with FAP, 14 (30.4%) paents carrying adenomatous polyposis coli gene (APC)
mutaon, 6 male and 8 female, age (median, range) 12 (10-17) years, body mass index 19 (13-24), underwent
WCE as rst screening examinaon. The examinaon was completed in 13 paents (93.3%). Wireless capsule en-
doscopy idened the duodenal papilla in 4 paents and colonic and rectal polyps in all 13 paents. In 7 paents,
fewer than 25 polyps were idened. No complicaons were recorded related to the use of the video capsule.
Conclusions: Wireless capsule endoscopy is feasible and well-tolerated as a rst screening examinaon in adoles-
cent paents. It cannot be used as alternave to the colonoscopy, but could improve compliance with colonos-
copy, and increase early adherence to a surveillance program.
Keywords: Adolescent, Familial adenomatous polyposis surveillance, Wireless capsule endoscopy
Accepted: June 18, 2015
Published online: July 15, 2015
Corresponding author:
Marco Vitellaro, MD
Fondazione IRCCS Istuto
Nazionale dei Tumori
Via Venezian, 1
20133 Milan, Italy
marco.vitellaro@istutotumori.mi.it
Wireless capsule endoscopy in adolescents with FAP
2
© 2015 INTM, Italy. Published by Wichg Publishing
discomfort, and risk to the paents, and these procedures
appear to be very invasive to children (9).
Moreover, surveillance of the small intesne is also rec-
ommended (10-14). Paents with FAP have a 60% to 90% risk
to develop polyps in the upper gastrointesnal (UGI) tract,
and duodenal adenocarcinoma is the second leading cause of
death aer colon cancer (15). Jejunal and ileal adenomas can
also occur in 40% and 20% of paents with FAP, respecvely,
although with a low risk of transformaon to cancer (16).
Wireless capsule endoscopy (WCE) was introduced in the
last 10 years to evaluate the upper and lower gastrointesnal
tract without the need for sedaon, oropharyngeal and rectal
intubaon, and gas insuaons (17, 18). The use of WCE is
transforming the acquision of imaging in gastroenterology,
and in the last 10 years the number of scienc reports has
connuously increased (3, 19, 20). Limitaons to the use of
WCE exist for paents with bowel stenosis, swallowing dis-
orders, and pregnancy owing to the microwaves transmied
from the capsule (21). No contraindicaons for use of WCE in
paents with cardiac pacemakers or cardiac debrillator have
been noted (22). Recently, the great interest in WCE allowed
the manufacturer company to develop a second-generaon
colon capsule system to increase capsule sensivity for detec-
on of colonic ndings and to simplify the procedure (23).
Although CRC prevenon with early polyps removal through
colonoscopy has been demonstrated to be the gold standard
technique in randomized and observaonal studies (24-26),
not all subjects, especially teenagers, were able to accept an
early surveillance program, despite being mutaon carriers.
Our hypothesis was that WCE, minimizing the invasiveness of
surveillance, could ence young paents to join surveillance
programs earlier. Improving the understanding of CRC screen-
ing may reduce the risk of cancer.
The aim of this study was to evaluate WCE feasibility and
acceptance as rst screening examinaon in adolescent pa-
ents with FAP diagnosed with genec tesng.
Methods
This was a retrospecve review of 151 adolescent paents
(73 male, 78 female; median [range] age 14 years [7-17]
enrolled in to the FAP registry database from 1989 to 2013,
undergoing the surveillance program at Fondazione IRCCS
Istuto Nazionale dei Tumori of Milan. Over the period 2007
to 2013, 46 adolescent paents were referred to the Regis-
try for the surveillance program, and 14 of these underwent
WCE as rst screening examinaon. The paents in this study
have never been subjected to endoscopic examinaons or
surgery. The inclusion criteria were paents with hereditary
condion not compliant to undergo colonoscopy. Exclusion
criteria were swallowing disorders or inability to swallow.
All paents signed an assent, and consent was signed from
parents or legal guardians. Descripve stascs were used to
determine demographic characteriscs and to analyze WCE
results.
Bowel preparaon
For WCE, the bowel needs to be as clean as possible
to facilitate visualizaon of the mucosa (19) and to induce
progression of the video capsule (20). Bowel preparaon is
detailed in Figure 1.
Procedure meline
Aer the ingeson of WCE, the paent returns home and
interacts with the external device of the WCE, which indicates
how to proceed to take the prescribed drugs, as illustrated
in Figure 1. Drugs help WCE to proceed in the gastrointes-
nal tract. During the examinaon day, the paent should stay
away from electromagnec elds, like mobile phones. At the
end of the examinaon procedure, the light of the external
device turns o. The WCE is ejected with stool by the paent.
No other diagnosc procedures to check the ejecon of the
capsule are usually taken without symptoms referred from
the paent. The day aer the examinaon, the paent car-
ries the external device back to the hospital. A gastroenter-
ologist starts analyzing the registraon; mean me of imaging
examinaon is 1 hour.
Device
Eight paents of the series underwent WCE using PillCam
Colon 1 (PCCE1) and 6 paents using PillCam Colon2 (PCCE2)
(Given Imaging, Yoqneam, Israel). The device is Food and
Drug Administraon (FDA) approved for small bowel and co-
lon study (27). The device pack consists of a wireless capsule
containing the video camera, a sensing system, a data record-
er, and a baery pack. The images are transmied from the
capsule to the external recorder and subsequently reviewed
using a workstaon. The coat of the capsule allows easy in-
geson and progression along the gastrointesnal tract.
Even though the dierences between the 2 PillCams did not
aect the study, the second generaon of PillCam colon cap-
sule (PCCE2) signicantly increased the sensivity in detecng
bowel polyps, and esmang their number and size. Improve-
ments of the second generaon WCE are wider angle of view
and increased baery life. In PCCE1, the capsule has a prepro-
grammed sleeping mode that acvates the acquision of imag-
ing aer 1 hour and 45 minutes despite the capsule posion;
Fig. 1 - Bowel preparaon. WCE = wireless capsule endoscopy.
Cavallo et al 3
© 2015 INTM, Italy. Published by Wichg Publishing
PCCE2 has an algorithm that detects when the capsule is in
the stomach, where it works in an ultralow frame rate with ad-
vanced system of acquision and transmission of the images.
The capsule is always in communicaon with the external data
recorder which is no longer a simple recorder but a computer
device. In fact, the external recorder receives images from the
capsule and understands if the capsule is staonary or in mo-
on, establishing the speed of acquision of the images. The
capsule increases the collecon of the images from 4 images
per second when staonary to 35 images per second when in
moon (3). In this way, WCE allows the acquision of a great-
er number of images, decreasing the risk of poorly displayed
bowel segments. Through an acousc system and a display, the
computer interacts with the paent, indicang how to proceed
with the intake of drugs and when the procedure is ended.
Results
A retrospecve review of 46 adolescent paent charts (27
male, 19 female, median [range] age 13.5 years [7-17] referred
to the FAP Registry database of Fondazione IRCCS Istuto Na-
zionale Tumori, Milan, Italy, from 2007 to 2013, was conducted.
Fourteen paents (30.4%) carrying the APC mutaon for FAP,
6 male and 8 female, median age (range) 12 (10-17) years, body
mass index 19 (13-24), underwent WCE as rst screening ex-
aminaon. Eight paents underwent PCCE1 and 6 paents un-
derwent PCCE2. Table I shows the paent characteriscs. The
examinaon was completed in 13 paents (93.3%); in 1 paent
(6.7%), the video capsule (PCCE1) never passed the stomach
during the recording me. This paent completed the exami-
naon later with a result comparable to other paents. Three
paents (21.4%) were unable to swallow the video capsule, and
it was posioned directly into the stomach by the UGI scope.
Wireless capsule endoscopy idened the duodenal papilla in
4 paents; colonic and rectal polyps were idened in 13 pa-
ents. The precise number of polyps in the rectum could not
be exactly dened owing to the diculty of WCE in determining
the correct transion point between sigmoid colon and rectum.
Other features idened through the examinaon were
number and size of polyps. Seven paents were found with few-
er than 25 polyps, 4 paents with 25-100 polyps, and 2 paents
with more than 100 polyps. The size of polyps in 8 paents was
smaller than 1 cm and larger than 1 cm in 5 paents. All the
paents underwent colonoscopy within 3 months from WCE,
conrming the adenoma histology; in 9 paents, the result was
concordant with WCE, while 4 paents showed more polyps at
colonoscopy (Tab. I). The real dimension of a polyp, being that
WCE was not equipped with binocular vision, was calculated
with indirect and comparave methods.
Paents reported mild discomfort during bowel prepa-
raon, the bowel preparaon results were acceptable, no
complicaons were recorded related to the use of the video
capsule, and the examinaon was safe and well-tolerated in
all paents.
In this study, no paent experienced capsule retenon.
No other complicaons, such as bleeding or perforaon,
were observed.
Discussion
Early and close endoscopic surveillance associated with
prophylacc surgery helps to minimize the number of deaths
TABLE I - Paent characteriscs
Paent
no.
Sex Age, y Able to
swallow
WCE
Papilla
idened
Rectum
idened
No.
polyps
<25
No.
polyps
>25 <100
No.
polyps
>10 0
Size of
polyps,
< or >10 mm
No. polyps
idened with
colonoscopy
(no. polyps in
the rectum)
Size of
polyps,
mm
1 F 14 No No √ √ <30 (1) 3-6
2 F 11 √ √ <35 (1) 1-4
3 F 17 No √ √ <21 (3) 2-3
4 M 11 No No - - - - 80 (25) 3-16
5 F 10 No √ √ <20 (1) 2-4
6 M 16 No <>10 0 (20 ) 5-8
7 F 12 No √ √ <20 (5) 4-5
8aF11 √ √ <60 (10) 4-6
9aM11 No √ √ >80 (0) 5-30
10aM13 √ √ >60 (0) 4
11aM12 No No √ √ <50 (0) 3-4
12 M12 No >>10 0 (20 ) 3-10
13aF15 √ √ >6 5 (1 5) 4-10
14aF12 No No √ √ >30 (0) 3-10
WCE = wireless capsule endoscopy.
aPaents undergoing PillCam Colon2.
Wireless capsule endoscopy in adolescents with FAP
4
© 2015 INTM, Italy. Published by Wichg Publishing
from CRC in paents with FAP (28-30). Endoscopic surveillance
is crucial to control adenomas transformaon in CRC and con-
sequently increase paent survival. Laparoscopic colectomy
with acceptable short- and long-term postsurgical and onco-
logic outcomes is an appealing alternave to young paents,
reducing postoperave pain and hospitalizaon owing to its
lower level of invasiveness (4).
This study veried WCE feasibility as rst screening exami-
naon in young paents, helping them adhere to the surveil-
lance program and consequently to prophylacc surgery.
It is crucial that paents and their parents understand the
role of an early surveillance program, with the intenon of
prevenng CRC. Screening examinaons are uncomfortable,
however, especially for young paents. Comparing screening
procedures in paents with FAP, we should consider colonosco-
py, sigmoidoscopy, and WCE. Colonoscopy is the only diagnosc
examinaon that does not require addional invesgaons for
the complete study of the colon and rectum. However, the in-
vasiveness of the procedure, the need for sedaon, and the risk
of complicaons represent limitaons that aect the parcipa-
on of the paents in the screening. Dierences among these
3 diagnosc procedures are bowel preparaon, extension of
the examinaon, ability to perform a biopsy, and need of seda-
on to perform the examinaon (Tab. II).
The sensivity of these procedures strongly depends on
colon cleanliness, which inuences their success and accu-
racy. Nowadays, bowel preparaon for WCE is more aggres-
sive in comparison to colonoscopy, because WCE also needs
an expedited peristalsis to help the capsule to proceed. Van
Gossum et al (18) demonstrated how the quality of colon
preparaon aects the rate of detecon of polyps by WCE.
Eorts have been made to improve its eecveness, with
promising results.
In this study, WCE, compared to colonoscopy, has limita-
ons in detecng number of polyps, dimensions, and localiza-
on. The reason for this is the rotaonal movement within
bowel lumen, which could generate a double view of some
polyps. The movements of the capsule can be too rapid, losing
the visualizaon of some tracts of bowel. The essenal fea-
tures of endoscopy are real-me visualizaon of the images
and ability to perform biopsies for histologic conrmaon of
suspected lesions. Rectal-sigmoidoscopy and colonoscopy al-
low direct access to the lesions, washing the eld if obscured
by bowel residuals or returning to a suspected lesion if poorly
visualized, while WCE cannot change viewing angle, because
the diagnosis is made on recorded images and real localiza-
on; number and dimension of polyps are hard to dene.
Although WCE does not allow exact counng of the
number of polyps, it allows idencaon of the presence or
absence of lesions in the bowel of paents who decline colo-
noscopy. The accuracy of this number is not crical because
once polyposis is conrmed, paents need colonoscopy for
histologic conrmaon. We used FAP staging (Insight 2011) to
categorize and compare the number of polyps evaluated with
colonoscopy and WCE (Tab. I). Looking at Table I, discordance
between number of polyps found with the 2 techniques ap-
peared only in 4 paents, with an accuracy of 69%. Underes-
maon of the number of polyps when there are fewer than
60 and in dimensions inferior to 4-6 mm conrms that WCE
could lose visualizaon of small polyps (18).
Even considering the small number of paents, this study
has comparable results with the literature. In a prospecve
mulcenter study, sensivity and sensibility of WCE were
lower than those of endoscopy in detecng colon lesions.
Sensivity and specicity of WCE were 64% and 84%, respec-
vely, in detecng polyps 6 mm or bigger (18).
Hassan et al (31) proved that WCE, even with lower sensi-
vity in comparison to colonoscopy, could have an important
role in screening populaons for colonic polyps. Moreover,
they demonstrated that if adherence to WCE was only 4%
higher than colonoscopy, it would save the same amount of
lives as colonoscopy.
Due to its noninvasiveness, 30.4% of paents in our study
preferred WCE to colonoscopy as rst screening examinaon.
The improvement of the soware in PCCE2 allows compleng
a greater number of examinaons. Moreover, if paent 4, in
whom WCE did not pass the stomach during the recording
me, had undergone PCCE2, he probably would have com-
pleted the examinaon.
Furthermore, WCE studies the UGI tract and small and
large bowel with a single and noninvasive examinaon, in-
cluding a paral visualizaon of duodenal papilla (4 paents).
This study conrmed that WCE appears to be an eecve
noninvasive imaging choice to screen paents with FAP who
are resistant to colonoscopy.
Wireless capsule endoscopy should not be considered as
an alternave to colonoscopy, which is the recommended
procedure of choice for prevenon of colorectal cancer in pa-
ents with FAP, but a complementary technique. Wireless cap-
sule endoscopy has a lower risk of iatrogenic complicaons,
minimizing the discomfort at an early start of surveillance.
Once colonic polyps are found through WCE, it could be easier
to persuade young paents and their parents of the neces-
sity of an invasive examinaon such as colonoscopy to conrm
histopathology.
Acknowledgment
The authors thank Mariangela Di Ceglie (Hereditary Digesve Tract
Tumours Unit, Fondazione IRCCS Istuto Nazionale dei Tumori) for
data management support and Ornella Galuppo (Hereditary Digesve
TABLE II - Features of screening examinaons for familial adenoma-
tous polyposis
Flexible
sigmoidoscopy
WCE Colonoscopy
Preparaon ++++ +++
Extension of
examinaon
Rectum, sigma Colon (rectum),
UGI
Whole large
bowel
Histologic
diagnosis
+ - +
Sedaon +/- - +
Complementary
examinaon
Colonoscopy Colonoscopy -
Treatment + - +
UGI = upper gastrointesnal tract; WCE = wireless capsule endoscopy.
Cavallo et al 5
© 2015 INTM, Italy. Published by Wichg Publishing
Tract Tumours Unit, Fondazione IRCCS Istuto Nazionale dei Tumori)
for secretarial support.
Disclosures
Financial support: None.
Conict of interest: None.
Meeng presentaon: The arcle is based on a previous poster pre-
sentaon at the meeng of the Collaborave Group of the Americas
on Inherited Colorectal Cancer (CGA-ICC), Anaheim, CA, USA, October
2013.
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... The colorectal adenomatous polyps vary in size, but most often measure 1-2 mm in diameter, with the pedunculated variants measuring up to 1 cm. FAP can present in two forms: diffuse where hundreds of polyps are made, or profuse, where thousands of polyps are developed [18]. Signs and symptoms include but are not limited to rectal bleeding, anemia, increased stool frequency, and abdominal pain [18]. ...
... FAP can present in two forms: diffuse where hundreds of polyps are made, or profuse, where thousands of polyps are developed [18]. Signs and symptoms include but are not limited to rectal bleeding, anemia, increased stool frequency, and abdominal pain [18]. ...
... Endoscopic screening in patients with a family history of FAP or confirmed FAP genetic test should start between the ages of 10 and 11 years with sigmoidoscopy or colonoscopy every 1 to 2 years, and a colonoscopy beginning at age of 18-20 for people with AFAP [18]. It is possible now to use wireless capsule endoscopy (WCE) as the first screening tool in adolescents, where the capsule is swallowed and ejected with stools, making it more comfortable for the young compared with colonoscopy or sigmoidoscopy [18,19]. ...
Article
Full-text available
Purpose of Review Explore the pathogenesis, unique features, and various prophylactic as well as therapeutic surgical techniques used in the two most common types of hereditary colorectal cancer Lynch syndrome (LS) and familial adenomatous polyposis (FAP). Recent Findings In LS patients, it is important to determine the genetic risk panel before undergoing surgery. In practice, 22% of surgeons prefer to perform a subtotal colectomy at diagnosis of LS, and more than a half recommend a subtotal colectomy at diagnosis of CRC. In FAP patients, most surgeons would choose proctocolectomy + ileal pouch-anal anastomosis (IPAA) rather than total colectomy + ileorectal anastomosis (IRA), as the remaining rectum might harbor disease and will require surveillance. The role of laparoscopy and robotics has been introduced in the management of these operations over the past few years. Summary Different surgical techniques are used as prophylactic or therapeutic measures in patients with LS and FAP. The main question is to determine how extensive the surgery should be, rather than deciding on the need or on the timing of intervention. Regardless of the surgical technique options, all decisions need to be individualized and best undertaken with the patient, patient’s family, and a multi-disciplinary team.
... Studies have indicated that capsule endoscopy for patients with FAP can be safely completed even after colorectal surgery or in younger patients [193][194][195][196]. However, it is essential that capsule endoscopy be conducted after proctocolectomy with attention given to confirming the presence of prior passage failure and capsule retrieval [197]. ...
... The detection rate of jejunal and ileal polyps with capsule endoscopy in patients with FAP was 30.4-60% [193][194][195][196]. Meta-analysis results have shown that the development of jejunal and ileal polyps is positively associated with the development of duodenal polyps [195]. ...
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Hereditary colorectal cancer (HCRC) accounts for < 5% of all colorectal cancer cases. Some of the unique characteristics commonly encountered in HCRC cases include early age of onset, synchronous/metachronous cancer occurrence, and multiple cancers in other organs. These characteristics necessitate different management approaches, including diagnosis, treatment or surveillance, from sporadic colorectal cancer management. There are two representative HCRC, named familial adenomatous polyposis and Lynch syndrome. Other than these two HCRC syndromes, related disorders have also been reported. Several guidelines for hereditary disorders have already been published worldwide. In Japan, the first guideline for HCRC was prepared by the Japanese Society for Cancer of the Colon and Rectum (JSCCR), published in 2012 and revised in 2016. This revised version of the guideline was immediately translated into English and published in 2017. Since then, several new findings and novel disease concepts related to HCRC have been discovered. The currently diagnosed HCRC rate in daily clinical practice is relatively low; however, this is predicted to increase in the era of cancer genomic medicine, with the advancement of cancer multi-gene panel testing or whole genome testing, among others. Under these circumstances, the JSCCR guidelines 2020 for HCRC were prepared by consensus among members of the JSCCR HCRC Guideline Committee, based on a careful review of the evidence retrieved from literature searches, and considering the medical health insurance system and actual clinical practice settings in Japan. Herein, we present the English version of the JSCCR guidelines 2020 for HCRC.
... Patients with predisposing genetic syndromes also undergo wireless capsule endoscopy. 16 Disease staging requires computed tomography of the chest and abdomen, and positron emission tomography for the detection of metastases and disease recurrence. Plasma levels of carcinoembryonic antigen and carbohydrate antigen 19.9 are tested as markers of disease at diagnosis (especially for adenocarcinoma), and are usually monitored to assess response to treatment in metastatic patients, or for the early detection of recurrent disease. ...
... Supplementary Tables S1 and S2, years. 16,58,59 Another feature with a potentially negative influence on survival in children and adolescents might be pediatric specialists' scant experience of managing GI cancer. This is certainly not easy to demonstrate or quantify, but various studies in the adult setting have shown that patients who receive appropriate surgical treatment have a better prognosis than patients who do not, 45 To sum up, this is the first national cooperative prospective study on GI tract carcinomas occurring in pediatric and adolescent age. ...
Article
Background: Gastrointestinal (GI) carcinomas are very rare in the pediatric and adolescent age range. We report the clinical features, treatment, and outcome of a series of children and adolescents with GI carcinoma prospectively registered in the Italian Tumori Rari in Età Pediatrica (TREP) project. Methods: The TREP project developed diagnostic and therapeutic guidelines based on recommendations currently in use for adults. Clinical data were centrally registered and reviewed. Results: Fifteen patients were registered over the years 2000-2016. Most of the tumors were colorectal carcinomas (12 cases). All but one patient had advanced-stage disease (American Joint Committee on Cancer stages III-IV), and the majority of patients had aggressive histological subtypes, i.e. poorly differentiated (G3) (five patients), mucinous (four patients), and signet ring (two patients) adenocarcinomas. Surgery was performed in 13 of 15 patients, and was radical in nine of 13 patients. Only one patient received postoperative radiotherapy. All patients received chemotherapy, with the addition of bevacizumab in two cases. Nine patients were still alive at the time of the present report, but two of them had only just completed their treatment program and one patient is still on treatment. Six patients died due to disease progression. Conclusions: This prospective report on pediatric GI tract carcinomas confirms the rarity and biological aggressiveness of these diseases in pediatric and adolescent age. Further prospective studies are needed to explore the distinct biology of tumor in this age group in order to find new therapeutic targeted agents.
... In addition, it is important for patients with FAP to undergo colorectal cancer screening at least every 2 years from the age of 10-12. An advantage of CCE is that it can reduce the risk of colonoscopy-related complications, such as perforation, and it can be performed in children and adolescents who are at high risk of developing colorectal cancer but refuse to undergo colonoscopy due to the associated discomfort [113]. ...
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Full-text available
Observing the entire small bowel is difficult due to the presence of complex loops and a long length. Capsule endoscopy (CE) provides a noninvasive and patient-friendly method for visualizing the small bowel and colon. Small bowel capsule endoscopy (SBCE) has a critical role in the diagnosis of small bowel disorders through the direct observation of the entire small bowel mucosa and is becoming the primary diagnostic tool for small bowel diseases. Recently, colon capsule endoscopy (CCE) was also considered safe and feasible for obtaining sufficient colonic images in patients with incomplete colonoscopy, in the absence of bowel obstruction. This review article assesses the current status of CE in terms of the diagnostic yield and the clinical impact of SBCE in patients with obscure gastrointestinal bleeding, who have known or suspected Crohn’s disease, small bowel tumor and inherited polyposis syndrome, celiac disease, and those who have undergone CCE.
... It underestimates duodenal polyps and cannot reliably visualize the ampulla. 142,[146][147][148] Therefore, CE does not replace direct endoscopic evaluation of the duodenum and ampulla. In regard to adverse events, CE in FAP patients can be successfully performed even in patients with prior bowel surgery. ...
Article
Familial adenomatous polyposis (FAP) syndrome is a complex entity, which includes FAP, attenuated FAP, and MUTYH-associated polyposis. These patients are at significant risk for colorectal cancer and carry additional risks for extracolonic malignancies. In this guideline, we reviewed the most recent literature to formulate recommendations on the role of endoscopy in this patient population. Relevant clinical questions were how to identify high-risk individuals warranting genetic testing, when to start screening examinations, what are appropriate surveillance intervals, how to identify endoscopically high-risk features, and what is the role of chemoprevention. A systematic literature search from 2005 to 2018 was performed, in addition to the inclusion of seminal historical studies. Most studies were from worldwide registries, which have compiled years of data regarding the natural history and cancer risks in this cohort. Given that most studies were retrospective, recommendations were based on epidemiologic data and expert opinion. Management of colorectal polyps in FAP has not changed much in recent years, as colectomy in FAP is the standard of care. What is new, however, is the developing body of literature on the role of endoscopy in managing upper GI and small-bowel polyposis, as patients are living longer and improved endoscopic technologies have emerged.
... [6][7][8] In fact, since its introduction in 2001, VCE has become the preferred method for evaluation of obscure GI bleeding, tumors and inflammation in the SB. [9][10][11][12][13] Several studies have documented that VCE effectively detects CD in adult patients. For example, one study reported 20% increased diagnostic yield of SB CD lesions compared with ileoscopy 14 and another investigation showed that VCE is superior in detecting mucosal lesions compared with magnetic resonance enterography (MRE). ...
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Full-text available
Background Video capsule endoscopy (VCE) is a noninvasive method enabling excellent visualization of the small bowel (SB) mucosa. The aim of this study was to examine the impact and safety of VCE performed in children and adolescents with suspected or established Crohn’s disease (CD). Methods A total of 180 VCE examinations in 169 consecutive patients conducted in 2003–14 in a single center were retrospectively analyzed. The median age was 13 years (range 3–17 years) and indications for VCE were suspected (125 cases, 69%) and established (55 cases, 31%) CD. VCE was performed with a PillCam SB (Given Imaging, Yokneam, Israel) VCE system with 8–12 h of registration without bowel preparation. Results A total of 154 of 180 (86%) patients swallowed the capsule and 26 (14%) had the capsule endoscopically placed in the duodenum. Patency capsule examination was performed in 71 cases prior to VCE to exclude SB obstruction. VCE detected findings consistent with SB CD in 71 (40%) examinations and 17 (9%) procedures showed minor changes not diagnostic for CD. A total of 92 (51%) examinations displayed normal SB mucosa. The capsule did not reach the colon within the recording time in 30 (17%) procedures and were defined as incomplete examinations. A change in diagnosis or therapy was recommended in 56 (31%) patients based on VCE results. Capsule retention occurred in one patient. Conclusions VCE is a safe method in children with suspected or established CD. VCE often leads to a definitive diagnosis and has a significant impact on the clinical management of pediatric patients with CD.
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Colorectal cancer was infrequently diagnosed several decades ago. Nowadays, it is the world's fourth most deadly cancer with almost 900,000 deaths annually. Colorectal cancer had a low incidence several decades ago. However, it has become predominant cancer and now accounts for approximately 10% of cancer-related mortality in western countries. The ‘rise’ of colorectal cancer in developed countries can be attributed to the increasingly aging population, unfavorable modern dietary habits and an increase in risk factors such as smoking, low physical exercise and obesity. New treatments for primary and metastatic colorectal cancer have emerged, providing additional options for patients; these treatments include laparoscopic surgery for primary disease, more aggressive resection of metastatic disease (such as liver and pulmonary metastases), radiotherapy for rectal cancer and neoadjuvant and palliative chemotherapies. However, these new treatment options have had a limited impact on cure rates and long-term survival. Keywords: Colorectal cancer, Tumor marker, Hereditary colorectal cancer, Mediterranean diet.
Article
Background: APC gene pathogenic variants are characterized by a lifetime risk of nearly 100% to develop a colorectal carcinoma. International guidelines suggest a prophylactic surgery in the second decade. Methods: A descriptive analysis was performed evaluating a surgical series of adolescent patients with familial adenomatous polyposis (FAP) enrolled in the prospectively maintained hereditary polyposis registry. Results: Thirty-eight adolescent patients (median age 16 years; range, 7-19) underwent laparoscopic prophylactic surgery. APC gene pathogenic variants were detected in all patients, and six patients were proband. No patients were converted to open surgery. Median postoperative stay was five days (4-16). Early postoperative complications were one dural puncture and one anastomotic leakage. Regarding late complications, we observed one patient having small bowel obstruction 56 months after surgery. Pathological reports showed one patient with pTis adenocarcinoma in two separate sites; 33 patients with low-grade dysplasia, four with high-grade dysplasia. One patient developed a desmoid tumor 37 months after surgery. After a median follow-up of 40.5 months, no patients died or had a second abdominal surgery because of cancer in rectal stump. Conclusions: Rectal sparing surgery was the first choice in the major respect of patients' quality of life. Laparoscopic prophylactic surgery for FAP is well accepted from adolescents. It represents a safe option due to the low incidence of post-surgical desmoids and quick postoperative recovery.
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To obtain an adequate view of the whole small intestine during capsule endoscopy (CE) a clear liquid diet and overnight fasting is recommended. However, intestinal content can hamper vision in spite of these measures. Our aim was to evaluate tolerance and degree of intestinal cleanliness during CE following three types of bowel preparation. This was a prospective, multicenter, randomized, controlled study. Two-hundred ninety-one patients underwent one of the following preparations: 4 L of clear liquids (CL) (group A; 92 patients); 90 mL of aqueous sodium phosphate (group B; 89 patients); or 4 L of a polyethylene glycol electrolyte solution (group C; 92 patients). The degree of cleanliness of the small bowel was classified by blinded examiners according to four categories (excellent, good, fair or poor). The degree of patient satisfaction, gastric and small bowel transit times, and diagnostic yield were measured. The degree of cleanliness did not differ significantly between the groups (P = 0.496). Interobserver concordance was fair (k = 0.38). No significant differences were detected between the diagnostic yields of the CE (P = 0.601). Gastric transit time was 35.7 ± 3.7 min (group A), 46.1 ± 8.6 min (group B) and 34.6 ± 5.0 min (group C) (P = 0.417). Small-intestinal transit time was 276.9 ± 10.7 min (group A), 249.7 ± 13.1 min (group B) and 245.6 ± 11.6 min (group C) (P = 0.120). CL was the best tolerated preparation. Compliance with the bowel preparation regimen was lowest in group C (P = 0.008). A clear liquid diet and overnight fasting is sufficient to achieve an adequate level of cleanliness and is better tolerated by patients than other forms of preparation.
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The clinical spectrum, histology, and endoscopic features of colonic polyps in the pediatric age group were studied to evaluate the role of colonoscopy in children suspected of having colonic polyps. Seventy-six patients with colorectal polyps were studied. Investigations included barium enema (n=6), sigmoidoscopy (n=17), and colonoscopy (n=53) at the initial visit. Colonoscopy was also performed in 23 patients who received barium enema or sigmoidoscopy. Data related to age, gender, family history, signs, symptoms, size, location, polyp types, and associated diseases were collected and analyzed. Among the 76 patients, juvenile polyps were detected in 58 (76.3%), potentially premalignant polyposis in 17 (22.4%), familial adenomatous polyposis in 11 (14.5%), Peutz-Jegher syndrome in 4 (5.3%), and juvenile polyposis syndrome in 2 (2.6%). Twenty-two patients (28.9%) had polyps in the upper colon. All patients with potentially malignant polyps had polyps in both the upper colon and rectosigmoid colon. Although most of the children with colorectal polyps had juvenile polyps, a significant number of cases showed multiple premalignant and proximally located polyps. This finding emphasizes the need for a colonoscopy in such patients. Thus, the risk of malignant change, particularly in children with multiple polyps, makes surveillance colonoscopy necessary.
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The American Society of Colon and Rectal Surgeons is dedicated to assuring high quality patient care by advancing the science, prevention, and management of disorders and diseases of the colon, rectum, and anus. The standards committee is composed of Society members who are chosen because they have demonstrated expertise in the specialty of colon and rectal surgery. This Committee was created in order to lead international efforts in defining quality care for conditions related to the colon, rectum, and anus. This is accompanied by developing Clinical Practice Guidelines based on the best available evidence. These guidelines are inclusive, and not prescriptive. Their purpose is to provide information on which decisions can be made, rather than dictate a specific form of treatment. These guidelines are intended for the use of all practitioners health care workers, and patients who desire information about the management of the conditions addressed by the topics covered in these guidelines.
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Background: Prophylactic family screening and surgery has improved the outcome of patients with familial adenomatous polyposis (FAP) largely preventing deaths due to colorectal cancer. The present study compared the mortality rates and causes of death of FAP patients diagnosed by symptoms (probands) or by family screening (call-up). Methods: The study comprised all 236 FAP patients registered in the Finnish Polyposis Registry until the end of June 1998. There were 116 probands and 120 call-up patients with a median age of 36.8 and 22.8 at diagnosis and median follow-up times of 6.3 and 9.9 years, respectively. Cumulative crude and relative survival estimates were calculated for each group and the causes of death were determined. Results: The life expectancy was significantly better in the call-up group than in the probands after colectomy (P < 0.001). The survival rates of the call-up group equaled those expected for a comparable group in the general population up to 18 years after colectomy. The main cause of death was colorectal cancer accounting for 54 out of 68 deaths: four in the call-up group (all rectal stump cancer) and 50 in probands. Upper GI-tract cancer caused four deaths (periampullary cancer two, stomach cancer two) and two deaths were due to postoperative pulmonary embolism. Conclusion: The survival of FAP patients is significantly improved by prophylactic screening and surgery. Further improvement may be possible by using restorative proctocolectomy instead of colectomy and ileorectal anastomosis and by regular upper GI-tract endoscopic surveillance.
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To promote the appropriate use of new or emerging endoscopic technologies and those technologies that have an impact on endoscopic practice, the American Society for Gastrointestinal Endoscopy (ASGE) Technology Committee presents relevant information to practicing physicians in the form of technology reviews. Evidence-based methodology is used wherein a MEDLINE literature search is performed to identify pertinent clinical studies on the topic, a MAUDE (Manufacturer and User Facility Device Experience; Food and Drug Administration Center for Devices and Radiological Health) database search is performed to identify the reported adverse events of a given technology, and both are supplemented by accessing the "related articles" feature of PubMed and by scrutiny of pertinent references cited in the identified studies. Controlled clinical trials are emphasized, but in many cases data from randomized, controlled trials are lacking; in such cases, large case series, preliminary clinical studies, and expert opinion are used. Technical data are gathered from traditional and Web-based publications, proprietary publications, and informal communications with pertinent vendors. Reviews are drafted by one or two committee members, reviewed in significant detail by the committee as a whole, and approved by the Governing Board of the ASGE. When financial guidance is appropriate, the most recent coding data and list prices at the time of publication are provided. For this review, the MEDLINE database was searched through August 2012 for articles related to capsule endoscopy by using the keywords capsule endoscopy and wireless endoscopy plus esophageal disease, esophageal varices, small intestinal tumors, Barrett's esophagus, reflux, gastrointestinal bleeding, Crohn's disease, and celiac disease. Practitioners should continue to monitor the medical literature for subsequent data about the efficacy, safety, and socioeconomic aspects of these technologies.
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Causes of death were evaluated among 350 deceased patients with familial adenomatous polyposis (FAP) recorded in the Italian Polyposis Registry: 78.1% were due to colorectal cancer, 9.5% to extracolonic cancer (more than half of the upper gastrointestinal tract), 3.6% to desmoid tumors, and 8.8% to other causes. The age at diagnosis among 604 patients was studied in relation to presence of symptoms at presentation and presence of colonic cancer at surgery. In asymptomatic patients younger than 30 years the risk of colonic cancer was 3.3% and in symtomatic patients older than 40 it was 80%. A life-table analysis showed that postsurgical survival among patients without cancer at colectomy was 68% after 30 years, whereas that of patients with cancer was 41% after 10 years. The alternative prophylactic treatments of total colectomy with ileorectal anastomosis versus total proctocolectomy (IRA vs. IAA) were compared in terms of postsurgical survival. Both treatments showed a survival of 83% after 10 years. The risk of cancer in the rectal stump after IRA was 14.5% after 15 years and 25.2% after 25 years; the corresponding risks of dying from it were 4.3% and 9.3%, respectively. © 1994 Wiley-Liss, Inc.
Article
Prophylactic surgery is still considered the standard treatment for patients with Familial Adenomatous Polyposis (FAP). Laparoscopic (Lap) surgery has been introduced as an alternative approach. The aim was to evaluate the feasibility and short- to long-term outcomes after prophylactic FAP surgery in adolescent. A retrospective review of a database of adolescent patients with FAP identified through the Hereditary Colorectal Tumor Registry in a single Institution between 2005 and 2011. Patients underwent Lap total colectomy (TC) with ileo-rectal anastomosis (IRA) or proctocolectomy (PC) with ileal-pouch anal anastomosis (IPAA). The main outcomes were: Hospital stay, postoperative complications, desmoid tumor rates, tumor recurrence, long-term complications. Sixteen consecutive patients with median age 16 (range 13-19) and median BMI 22 (17-29) underwent surgery. [correction made here after initial online publication]. Of them 14 patients had LAP TC with IRA and 2 had PC with IPAA. Operative time (median, range) was TC/IRA 270 (210-330) minutes; PC/IPAA 370 (360-380) minutes. Length of extraction site was cm (median, range) 6(5-8). Lymph Node harvest (median, range) 81 (32-139). Postoperative stay days (median, range) were 6 (4-24). Five patients (31.2%) showed dysplasia on the pathological report and 3 of them showed severe dysplasia. Median follow-up time (FU) was 39 months, range (10-82). The anastomotic leak rate for 30 days was 2 (12.5%). Pouch failure was 0. Post-surgical desmoid tumors rate was 1 (6.2%) and there was no tumor recurrence. Anastomotic stricture, SBO and mortality were zero. Lap approach is feasible and shows acceptable postoperative outcomes. Lap surgery can be an appealing alternative for prophylactic surgery in adolescent FAP patients. Pediatr Blood Cancer 2012; 59: 1223-1228. © 2012 Wiley Periodicals, Inc.
Article
Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome. Risk of cancer begins to increase after age 20 years if not treated. The purpose of this study was to evaluate the feasibility and short- and long-term outcomes after laparoscopic prophylactic surgery for FAP. Fifty-five patients with FAP were identified through the Hereditary Colorectal Tumor Registry from 2003 to 2009. Patients with laparoscopic total colectomy (TC)/IRA or proctocolectomy (TPC)/ileal pouch-anal anastomosis IPAA were included. Patients with previous colon or abdominal major surgery, malignancy, and desmoids before surgery were excluded. Main outcomes were: 30 days anastomotic leak and pouch failure; long-term desmoids and malignant recurrence. Of the 55 patients, 32 were men, median age was 28 years, and mean body mass index was 23. Median follow-up time was 36 (range, 5-77) months. Forty-four patients had laparoscopic TC/IRA and ten had laparoscopic TPC/IPAA. One patient was converted to open surgery and received an open TPC/IPAA. Incision length was 7 (range, 5-14) cm. Anastomotic leak was 3 (5.4%: 2 laparoscopic and 1 open), and pouch failure was 0. Median postsurgical length of stay was 7 (range, 4-24) days. Desmoids occurred in three patients (5.4%), and there was no malignant recurrence within the follow-up period. Pathology revealed severe dysplasia in ten patients and adenocarcinoma in nine (8 laparoscopic and 1 open). Long-term small-bowel obstruction was 2 (3.6%). One mortality due to liver metastases occurred at 24 months. Laparoscopic prophylactic treatment of FAP appears to be safe and feasible and may be an appealing alternative to open surgery. If the goal of prophylactic FAP surgery is to avoid cancer occurrence, laparoscopic surgery could be an important advancement.
Article
Video capsule endoscopy (VCE) that was launched 10 years ago has become a first-line procedure for examining the small bowel, especially in the case of obscure gastrointestinal bleeding. Other major indications include Crohn disease (CD), celiac disease, and intestinal polyposis syndrome. In the case of small bowel diseases, the use of VCE must be integrated in a global diagnostic and therapeutic approach. More recently, wireless endoscopy has been adapted for examining the colon, opening up larger perspectives for colorectal cancer screening or colon examination. Technologic modifications of the second-generation colon capsule increase the sensitivity of this method for detecting polyps. Other new developments, including remote magnetic manipulation, power management, drug delivery capsule, microbiopsy capsule, and adaptation of technologies such as chromoendoscopy, are sure to enhance the capabilities of wireless endoscopy in gastrointestinal disorders.