Malignant Rhabdoid Tumor of the Lung in the Young Adult: A Case Report

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DOI: 10.1155/2011/323584 · Source: PubMed
Abstract
Malignant rhabdoid tumor (MRT) is one of the most aggressive and lethal malignancies in pediatric oncology. Malignant rhabdoid tumor was initially described in 1978 as a rhabdomyosarcomatoid variant of a Wilms tumor because of its occurrence in the kidney and because of the resemblance of its cells to rhabdomyoblasts. The absence of muscular differentiation led Haas and colleagues to coin the term rhabdoid tumor of the kidney in 1981, Haas et al..
Hindawi Publishing Corporation
Case Reports in Pulmonology
Volume 2011, Article ID 323584, 4 pages
doi:10.1155/2011/323584
Case Re port
Malignant Rhabdoid Tumor of the Lung in the Young Adult:
A Case Report
Adel Attia,
1
Moosa Suleman,
1
and Hesham Mosleh
2
1
Pulmonology Department, King Fahad Specialist Hospital,
Damman 31444, Saudi Arabia
2
Pathology Department, King Fahad Specialist Hospital,
Damman 31444, Saudi Arabia
Correspondence should be addressed to Adel Attia, adelattia68@yahoo.com
Received 14 June 2011; Accepted 3 August 2011
Academic Editors: F. L. Fimognari, T. Kawashima, and S. A. McGrath-Morrow
Copyrig ht © 2011 Adel Attia et al. This is an open access article distributed under the Creative Commons Attribution License,
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Malignant rhabdoid tumor (MRT) is one of the most aggressive and lethal malignancies in pediatric oncology. Malignant rhabdoid
tumor was initially described in 1978 as a rhabdomyosarcomatoid variant of a Wilms tumor because of its occurrence in the kidney
and because of the resemblance of its cells to rhabdomyoblasts. The absence of muscular dierentiation led Haas and colleagues to
coin the term rhabdoid tumor of the kidney in 1981, Haas et al..
1. Introduction
Rhabdoid tumor is a rare tumor that was first found to be
in the kidney. Over the last several years, research has shown
that it can also occur in the central nervous system (brain
and spinal cord) as well as other locations outside the kidneys
such as the liver, muscle, heart, lung, soft tissues, and skin.
If the tumor is in the kidney, it is called “rhabdoid tumor
of the kidney (RTK), and if it is in the brain or spinal
cord, it is called “CNS atypical teratoid/rhabdoid tumors
(AT/RTs)”. If it occurs outside of the kidney or brain, it has
the longer name of “non-CNS extrarenal rhabdoid tumors”
[1].
Considerable debate has been focused on whether extrar-
enal malignant rhabdoid tumors are the same as RTK. The
recent recognition that CNS atypical teratoid/rhabdoid tu-
mors (AT/RTs) have deletions of the SMARCB1 gene indi-
cates that rhabdoid tumors of the kidney and brain are iden-
tical or closely related entities. This observation is not sur-
prising because rhabdoid tumors at both locations possess
similar histologic, clinical, and demographic features. More-
over, 10%–15% of patients w ith malignant rhabdoid tumors
have synchronous or metachronous brain tumors, many
of which are second primary malignant rhabdoid tumors.
Germline SMARCB1 mutations were detected in approxi-
mately 15%–30% of these patients. INI1 immunohistochem-
ical studies can be used in conjunction with other studies
to confirm the histologic diagnosis of malignant rhabdoid
tumor [2].
2. Clinical History
This is a 36-year-old married male. He is nonsmoker and
nondiabetic. The patient is not known to have any medical
illness and was in his usual status till 6 months prior to the
presentation, when he started to complain of subjective fever
at night, night sweating, headache, and generalized weakness,
but that did not interfere with his daily activity and neglect
his condition until 2 months back, he started complaining
of intermittent dull acting central chest pain that was not
related to exertion and associated with mild shortness of
breath and intermittent cough. He had lost about 10 kg in
the last 2 months. There was no history of recent traveling or
contact with febrile patient. No history of palpitations, apnea
or PND. He sought advice in a private hospital, and they did
chest X -r ay and CT scan t hat showed left lung upper lobe
mass, hilar and mediastinal lymphadenopathy, and superior
2 Case Reports in Pulmonology
vena cava thrombosis. The patient is on vitamin supplements
and multiple antibiotics; he was given there. There was no
past history of admission, surgical intervention, or blood
transfusion (Figure 1).
3. Physical Examination
Te mp e r a t u r e 37
C, pulse of 75 beats per minute, respiration
16 per minute, BP of 121/80 mmHg and oxygen saturation
was 96% on room air.
He is a young male, lying in bed, not in distress, con-
scious, alert, and oriented in time, place, and person.
Neck examination: Pemberton sign was positive.
Neurological examination: normal
Chest: showed normal S1 and S2, no murmur equal
vesicular bilateral breath sounds with no adventitious
sounds, and no conducting sounds.
Abdomen:soft,lax,notenderness,andnoorgano-
megaly.
4. Investigations
CBC showed WBC of 6.45 × 10
9
/L, RBC 4.59 × 10
12
/L, he-
moglobin of 11.9 g/dL, hematocrit 37.5%, MCV of 81.8 fL,
MCH of 26 pcg, MCHC 31.8 g/dL, RDW 12.5%, platelet
count of 453
× 10
9
/L, mean platelet volume of 8.4 fL, neu-
trophils of 60.8%, lymphocytes 18.7%, monocytes 10.4%,
eosinophils 7.1%, basophils 1.7%, lymphocyte count abso-
lute 1.21, monocytes 0 .67, that is 670, eosinophils 0.46,
basophils 0.11, at ypical cells 1.2% and nucleated RBCs per
high power field.
Liver panel: bilirubin of 6.3 mcmol/L, alkaline phospha-
tase 99 U/L, ALT of 24 U/L, AST of 12 U/L, GGT of 29 U/L,
total protein of 79 g/L, albumin of 29 g/L, and albumin/glob-
ulin ratio was 0.6.
Coagulation profile: PT of 13.45 sec, INR of 1.07 sec, and
PTT of 36.41 sec.
Renal panel: sodium of 137 mmol/L, potassium of 4.6
mmol/L, chloride of 102.1 mmol/L, bicarbonate of 27 mmol/
L, BUN of 3.3 mmol/L, and creatinine of 86 mcmol/L.
MDRD calculated was more than 60 ml/min.
Bone panel: Phosphorus of 1.24 mmol/L, ALP of 101 U/
L, total protein of 70 g/L, albumin of 31 g/L, calc ium of
2.04 mmol/L and corrected calcium of 2.25. Magnesium of
0.95 mmol/L.
C-reactive protein
= 80.9 mg/L. CMV IgG was reactive,
CMV IgM non reactive. ESR of 16 mm/hr.
The chest X-ray revealed ill-defined area of consolidation
seen at the left hilar region, no evidence of rib destruction,
no pleural eusion in comparison to previous radiographs
as per the radiologist. Abdominal ultrasound was done and
did not show any abnormalities.
The patient underwent CT chest, abdomen, and pelvis.
It showed left upper lung lobe mass, there was a nodular
peribronchovascular infiltration involving the left lingular
segment suggestive of lymphomatous infiltration, multiple
enlarged mediastinal lymph nodes located at anterior medi-
astinal, paratracheal, peribronchial, subcarinal, and bilateral
hilar groups, with the largest was at the paratracheal group
measured 2.65
× 1.6 cm, still the thrombus in the right
brachiocephalic vein and superior vena cava extended to the
right atrium and the right subclavian vein with calcification
of right axillary vein suggestive of chronic thrombosis
with recanalization of the right subclavian vein. Minimal
pericardial eusion was noted. No pleural e usion. The
size and configuration of cardiac and mediastinal silhouette
structures were maintained. The liver was normal in size in
form of attenuation, no focal lesion, and no biliary dilatation.
Inferior vena cava, hepatic, and portal vein were patent.
Spleen, pancreas, both adrenals, and both kidneys were
normal. No ascites was noted. The visualized thoracic bony
cage, spine, and pelvis showed no focal bony lesions.
The patient underwent bronchoscopy with transbron-
chial biopsy. The bronchoscopy showed the vocal cords were
normal, trachea normal, carina shape normal, and in right
and left lungs, no bronchial lesion was seen. Transbronchial
biopsy was taken from the left upper lobe. The report of t he
bronchoalveolar lavage fluid showed excessive blood few
scattered benign bronchial cells other wise normal study.
Microscopic description showed lung tissue with rhabdoid
appearance, which was strongly positive for pan CK, vimen-
tin, but negative for actin, myogenin, desmin, and myoglo-
bin. Finally, the immunohistochemistry demonstrated lack
of nuclear INI1 protein expression (Figure 2).
The patient underwent mediastinoscopy and the patho-
logical report of the biopsy of the mediastinal lymph node
that was taken on the mediastinoscopy. The biopsy specimen
was reviewed, gross specimens consisted of mediastinal
lymph nodes; measuring in aggregate 1.5
× 0.5 cm, frozen
section diagnosis was metastatic tumor, whereas the spec-
imen received in formalin consisted a piece of brownish
tissue measuring 0.7
× 0.4 × 0.3 cm, grayish brown tissue
measuring 0.9
× 0.8 × 0.3 cm. Microscopic description
showed lymph nodes in all the above with metastasis
with rhabdoid appearance, which was also strongly positive
for pan CK, vimentin, but negative for actin, myogenin,
desmin, and myoglobin. Finally, the immunohistochemistry
demonstrated lack of nuclear INI1 protein expression.
Pathological diagnosis: Left lung upper lobe rhabdoid
tumor with mediastinal lymph nodes nodal metastasis.
Diagnosis: left lung upper lobe rhabdoid tumor with
multiple mediastinal lymphadenopathies with superior vena
cava thrombosis.
5. Discussion
Malignant rhabdoid tumor was first identified in the kidney
of infants and children and was described in 1978 as rhab-
domyosarcomatoid variant of Wilms’ tumor [3, 4]. However,
because of the lack of ultrastructural or immunohistochem-
ical evidence of myogenic dierentiation, the term rhabdoid
was later adapted for these neoplasms [5, 6]. With the same
morphologic and immunohistochemical features, identical
tumors have been reported in a wide variety of sites including
Case Reports in Pulmonology 3
(a) (b)
(c) (d)
(e)
Figure 1: (a, b, and c) CT- chest showed left upper lobe mass mediastinal lymph nodes enlargement and superior vena cava thrombosis.(d
and e) CT- abdomen showed spleen, pancreas, both adrenals, and both kidneys a re normal. No ascites was noted.
the nervous system, eye, tongue, nasopharynx, neck, medi-
astinum, thymus, heart, uterus, urinary bladder, vulva, skin,
soft tissue, paravertebral region, and gastrointestinal tract
[4, 7]. Extrarenal rhabdoid tumours, although histologically,
clinically, and ultrastructurally resembling renal rhabdoid
tumours, are less consistent in presentation. Lung rhabdoid
tumour is a rare histological finding especially in young
adults. We did extensive research for malignant rhabdoid
tumor of the lung, we did not find any publications for lung
rhabdoid tumor.
The median age at presentation is 10.6 months, with a
mean age of 15 months. Most patients are younger than 2
years. Malignant rhabdoid tumor has been reported in chil-
dren older than this and in adults.
4 Case Reports in Pulmonology
(a)
Vimentin
(b)
Pan-cvtoke
(c) (d)
Figure 2: (a) Tumor cells with a cytoplasmic pink ball pushing the nucleus, (b) Pan Cytokeratin positivity, (c) Vimentin positivity, (d) Pan
Cytokeratin high-power view.
As concern chemoradiotherapy, no consistently eective
regimen has yet been established, and a standard regimen is
not yet established.
The prognosis for children with malignant rhabdoid tu-
mors remains fair to poor, depending on the stage of the tu-
mor at presentation, the patient’s age at diagnosis, and pos-
sibly the genetic background.
Conflict of Interests
None of the authors has an y conflict of interest to disclose.
They have not received anything of value from a commercial
or other party related directly or indirectly to the subject of
this case report.
References
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[2] C. W. M. Roberts and J. A. Biegel, The role of SMARCB1/INI1
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[3] J.B.BeckwithandN.F.Palmer,“Histopathologyandprognosis
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[4] T. Yuri, N. Danbara, N. Shikata et al., “Malignant rhabdoid
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[7] Y. Chen, S. M. Jung, and T. C. Chao, “Malignant rhabdoid
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    • "Extra renal rhabdoid tumors have been described in the liver, brain, tongue, neck, chest, heart, pelvis, extremities, and several other sites. Three reports have highlighted rhabdoid differentiation in the lung tumours; however, it has not been described as endoluminal growth in the trachea345. This patient presented with upper airway obstruction masquerading as bronchial asthma for which he was treated. "
    [Show abstract] [Hide abstract] ABSTRACT: Rhabdoid tumours are one of the most aggressive childhood neoplasms associated with high mortality. The commonest age group affected is children less than five years of age. Rhabdoid tumour presenting as an endoluminal tracheal mass leading to central airway obstruction has not been previously reported. We describe the case of a 17-year-old male patient where malignant rhabdoid tumour masqueraded as bronchial asthma leading to a delayed diagnosis of upper airway obstruction by tracheal growth. Histopathological examination and immunohistochemistry confirmed the diagnosis of malignant rhabdoid tumour.
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