NDLI: Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene

Content Provider	Springer Nature Link
Author	Stewart, W. Trayr, J. P. Cooke, A. Griffiths, S. Őnen, N. F. Balsitis, M. Shah, A. A. Upadhyaya, M. Tobias, E. S.
Copyright Year	2006
Abstract	Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominantly inherited conditions. A range of complications has been described, including gastrointestinal manifestations. Gastric carcinoid tumours are associated with multiple endocrine neoplasia, atrophic gastritis and pernicious anaemia but have not been reported in NF1 in the absence of other predisposing factors. We report the occurrence and investigation of a gastric carcinoid tumour in a 23-year-old woman with previously uncomplicated NF1. Analysis of the tumour tissue revealed loss of heterozygosity at the NF1 gene locus but a normal karyotype and an absence of microsatellite instability. A germline NF1 gene nonsense mutation in exon 37 was detected by denaturing high-performance liquid chromatography and DNA sequence analysis. This is the first reported occurrence of a gastric carcinoid tumour in a patient with NF1 in the absence of other predisposing factors such as pernicious anaemia. The analyses indicate that the carcinoid arose through NF1 gene inactivation but in the absence of an inherited NF1 gene microdeletion. This case adds to the range of gastrointestinal tumours that may be encountered in patients with NF1, particularly in those who present with upper gastrointestinal haemorrhage.
Starting Page	147
Ending Page	152
Page Count	6
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	6
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Kluwer Academic Publishers
Publisher Date	2006-08-31
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Neurofibromatosis NF1 Gastric carcinoid LOH Epidemiology Human Genetics Oncology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types

Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative

Pheochromocytoma in von Hippel–Lindau disease and neurofibromatosis type 1 : Review

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

Massive gastric polyposis associated with a germline SMAD4 gene mutation

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation

Germline RAD51B truncating mutation in a family with cutaneous melanoma

Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations

Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene

Similar Documents

Somatic alterations of the NF1 gene in an NF1 individual with multiple benign tumours (internal and external) and malignant tumour types

Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative

Pheochromocytoma in von Hippel–Lindau disease and neurofibromatosis type 1 : Review

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

Massive gastric polyposis associated with a germline SMAD4 gene mutation

Homozygosity of MSH2 c.1906G→C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I

Case report: Neurofibromatosis type 1 gastrointestinal stromal tumor and small bowel adenocarcinoma with a novel germline NF1 frameshift mutation

Germline RAD51B truncating mutation in a family with cutaneous melanoma

Haplotypes of the I157T CHEK2 germline mutation in ethnically diverse populations

Gastric carcinoid: germline and somatic mutation of the neurofibromatosis type 1 gene