Marry H Nieuwenhuis's research while affiliated with Leiden University Medical Centre and other places
What is this page?
This page lists the scientific contributions of an author, who either does not have a ResearchGate profile, or has not yet added these contributions to their profile.
It was automatically created by ResearchGate to create a record of this author's body of work. We create such pages to advance our goal of creating and maintaining the most comprehensive scientific repository possible. In doing so, we process publicly available (personal) data relating to the author as a member of the scientific community.
If you're a ResearchGate member, you can follow this page to keep up with this author's work.
If you are this author, and you don't want us to display this page anymore, please let us know.
It was automatically created by ResearchGate to create a record of this author's body of work. We create such pages to advance our goal of creating and maintaining the most comprehensive scientific repository possible. In doing so, we process publicly available (personal) data relating to the author as a member of the scientific community.
If you're a ResearchGate member, you can follow this page to keep up with this author's work.
If you are this author, and you don't want us to display this page anymore, please let us know.
Publications (10)
Colorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas.
We a...
Patients with germline PTEN mutations are at high risk of developing benign and malignant tumours. We aimed to evaluate the cumulative risk of several types of cancer and of dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease, LDD). In addition, genotype-phenotype correlations in PTEN hamartoma tumour syndrome (PHTS) were assessed. Data o...
Duodenal cancer is a major cause of mortality in patients with familial adenomatous polyposis (FAP). The clinical challenge is to perform duodenectomy before cancer develops; however, procedures are associated with complications. Our aim was to gain insight into the pros and cons of prophylactic duodenectomy.
Patients with FAP from the nationwide D...
Duodenal adenomatosis in familial adenomatous polyposis results in a cancer risk that increases with age. Endoscopic surveillance has been recommended, but the effect has not yet been documented. The aim of this study was to present the results of long-term duodenal surveillance and to evaluate the risk of cancer development.
Follow up of patients...
Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.
Our aim was to assess several risk factors for desmoid tumor development in an international cohort of patients with familial adenomatous polyposis and to evaluate the clinical relevance of ri...
Desmoid-type fibromatoses are neoplasms of fibroblastic origin, occurring sporadically or associated with familial adenomatous polyposis (FAP) coli. By comparing sporadic and FAP-associated desmoid-type fibromatoses, we tried to identify clinical characteristics, which may indicate FAP. Histopathology data of all Dutch patients with desmoid-type fi...
In two patients, a man aged 43 and a woman aged 40 years, who presented with a desmoid tumour, familial adenomatous polyposis (FAP) was diagnosed three and six years later, respectively. The second patient had developed metastatic rectal cancer. Desmoid-type fibromatoses usually develop sporadically, but may also be an extracolonic manifestation of...
Information on postoperative fertility problems in female patients with familial adenomatous polyposis (FAP) is scarce. Previous studies in FAP or colitis patients almost uniformly describe a reduction in fertility after ileal pouch-anal anastomosis, compared with ileorectal anastomosis.
To describe fertility problems in female FAP patients after c...
Genetic information may help preoperatively select patients with familial adenomatous polyposis for either colectomy with ileorectal anastomosis or proctocolectomy with ileal pouch-anal anastomosis. Although complicated, the latter procedure has a low long-term risk of rectal cancer.
Data were obtained from four national polyposis registries. On th...
Desmoid tumors are a severe extracolonic manifestation in familial adenomatous polyposis (FAP). Identification of risk factors might be helpful in the management of FAP patients with such tumors. The aim of this study was to assess potential risk factors for the development of desmoids in a cohort of Dutch FAP patients.
The medical records of 735 F...
Citations
... Locus 9p11 was recently associated with metastasis of ccRCC and promote tumor cell invasion in vitro 19 , suggesting that it may play a role in the development of PM-ccRCC. SNP variants of 15q13 have been associated with risk for colon carcinoma 37 and low CHRNA7 gene expression (located on 15q13) has been associated with poor prognosis in pancreatic cancer 38 . ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/583732461322240-1516184072252_Q64/Frederik-Hes.jpg)
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272337035591688-1441941617234_Q64/Tom-Van-Wezel.jpg)
... Truncating variants are usually located in C2 and the phosphatase domain, with a hotspot in exon 5. Studies have reported that cases with benign and malign thyroid pathology, breast cancer, and cutaneous lesions usually presented truncating variants. Hendricks et al. suggested a potential tissue preference for this type of pathogenic variant [34,35]. Up to 30% of cases with CWS phenotype without PTEN pathogenic variants have a germline KLLN promoter hypermethylation (CWS4). ...
... In one study, the median survival of 16 FAP patients with duodenal cancer was 11 months. 40 A study classified the same dataset with the support vector machine model, which is one of the ML. According to the results obtained, the classification result correctly classified the FAP patients with and without duodenal cancer. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/809541608415233-1570021168220_Q64/Harry-Goor.jpg)
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272387908304906-1441953746230_Q64/Fokko-Nagengast.jpg)
... Therefore, patients with FAP constitute a high-risk group for duodenal cancer. The lifetime risk of developing duodenal cancer ranges from 3 to 5% [9][10][11] and is higher in other reports [1,4,12,13]. Duodenal cancer is also the third leading cause of death in patients with FAP, accounting for the deaths of approximately 3% of these patients [14,15]. ...
... The vast majority of DTs (90-95%) arise sporadically as a result of a somatic mutation in the CTNNB1 gene, but a subset occurs in patients with familial adenomatous polyposis (FAP) and are related to germline APC gene mutations. Patients with FAP have a > 800-fold risk of developing DTs relative to the general population 2 and have a greater tendency to develop multiple tumors, progressive disease, and intra-abdominal location Eisar Al-Sukhni and Joel Shapiro contributed equally to this work. Desmoid Tumors in Familial Adenomatous … of tumors. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272441368903686-1441966492246_Q64/Jeremie-Lefevre.jpg)
... An important study on this subject showed that first-degree relatives of a patient with TD presented a 25 % risk to develop these tumors [2]. Indeed, practitioners have been recommended to refer young patients with desmoids to colonic and genetic evaluation, as well as to investigate family history and patient's data in those with presumable sporadic desmoids [8,32]. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/459867291951105-1486652314186_Q64/Fred-Menko.jpg)
... DTs are a rare neoplasm derived from mesenchymal origin, with an estimated incidence of 2-4 per million, accounting for 0.03% of all neoplasms [11]. The peak of incidence occurs between 30 and 40 years and is more 2 GE Port J Gastroenterol DOI: 10.1159/000533959 common among women [12]. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/642039117008905-1530085462300_Q64/Olaf-Dekkers.jpg)
... 4 The standard treatment for FAP is prophylactic total colectomy with resection of the entire large intestine. 5 Total colectomy often carries a poor prognosis and adversely impacts the quality of life due to frequent diarrhea and incontinence, 6 infecundity in women, 7 and the development of desmoid tumors. 8 In Japan, total proctocolectomy combined with ileal pouch-anal anastomosis (IPAA) is currently considered the standard surgical procedure and has been increasingly implemented. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272461757415434-1441971353614_Q64/Kirsten-Douma.jpg)
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272410679181312-1441959175147_Q64/Willem-Bemelman-2.jpg)
... APC mutation location, allowing prediction of severity of rectal polyposis and likelihood of future completion proctectomy, has been suggested as a factor to consider in determining which procedure should be done. 12 Postsurgical surveillance should include yearly endoscopy of rectum or ileal pouch, and examination of an ileostomy every 2 years. 10 Colectomy with IRA is a single-stage procedure with slightly less morbidity than the IPAA surgery, but some rectal cancer risk remains and yearly proctoscopy is essential. ...
... This is consistent with previous studies that have shown that mutations in the 3′ region of the APC gene result in a higher incidence of DTs in FAP patients. 5,8,15 Others have also shown increased severity of DT phenotype (defined by size, symptoms, and growth) in patients with mutations 3′ to codon 1399. 10 Although we found no significant association between the presence or severity of symptoms and site of APC mutation in our patient set, our patient numbers are likely too small to comment definitively on this correlation. ...
![[object Object]](https://i1.rgstatic.net/ii/profile.image/272931221667840-1442083282269_Q64/Wouter-De-Vos-Tot-Nederveen-Cappel.jpg)
