Gastrointestinal stromal tumors in neurofibromatosis type 1

Orvosi hetilap
Judit Bajor

Abstract

Neurofibromatosis type 1 or Recklinghausen disease is one of the most common hereditary autosomal dominant diseases. The disease-causing gene can be found on chromosome 17 as an NF1 tumor suppressor gene. The mutation of this gene leads to the loss of tumor suppressor function, which in turn causes the development of benign and malignant tumors. In 25% of the cases gastrointestinal manifestations are found, most often GIST. The close correlation of the two diseases are well known in the literature, there are more than 160 published cases. GIST develops in 7% of patients with neurofibromatosis, and among these patients the occurrence of NF1 is 150-180 times more frequent than in the general population. Neurofibromatosis associated with GIST is a different entity and, unlike sporadic GIST, it is usually multiplex and almost always develops in the small bowel. There is a slightly higher incidence among women than in men, and the disease develops at young age. Histological characteristics include spindle cell type, skeinoid fibers and frequent S100 positivity. Low mitotic activity usually suggests better prognosis. c-KIT and PDGFRA mutation is very rare, in agreement with the hypothesis that the pathogenesis of NF1-GIST is not c-KI...Continue Reading

References

Jun 1, 1996·Journal of Gastroenterology·O KainumaT Hara
Jun 30, 2000·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·G KaratzasE Kaperonis
Jan 9, 2004·World Journal of Surgical Oncology·Kasim A BehranwalaJeremy N Thompson
Sep 25, 2004·Digestive Diseases and Sciences·Shih-Ping ChengShu-Ching Hsiao
Nov 13, 2004·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Rhonda K YantissCristina R Antonescu
May 18, 2005·The American Journal of Surgical Pathology·Yutaka TakazawaMasashi Fukayama
Aug 13, 2005·The American Journal of Surgical Pathology·Johanna AnderssonLars-Gunnar Kindblom
Dec 20, 2005·Histopathology·B P Rubin
Jan 10, 2006·Pathology International·Seiichi Hirota, Koji Isozaki
Feb 8, 2006·Human Molecular Genetics·Ophélia MaertensEric Legius
May 30, 2006·Journal of Clinical Pathology·L Tornillo, L M Terracciano
Nov 9, 2006·Archives of Pathology & Laboratory Medicine·Markku Miettinen, Jerzy Lasota
Nov 17, 2006·World Journal of Gastroenterology : WJG·George A Poultsides, Wayne A I Frederick
Dec 30, 2006·Seminars in Diagnostic Pathology·Cristina R Antonescu
Dec 30, 2006·Seminars in Diagnostic Pathology·Markku Miettinen, Jerzy Lasota
Dec 30, 2006·Seminars in Diagnostic Pathology·Jerzy Lasota, Markku Miettinen
Jan 4, 2007·International Journal of Urology : Official Journal of the Japanese Urological Association·Sakiko TeramotoMakoto Narita
Jan 27, 2007·The American Journal of Surgical Pathology·Dae Young KangKyoung-Mee Kim
Apr 13, 2007·The Korean Journal of Internal Medicine·Sang Hoon HanDong Bok Shin
Jun 7, 2007·World Journal of Gastroenterology : WJG·M Emin KalenderCelalettin Camci
Jul 31, 2007·World Journal of Gastroenterology : WJG·Klaus KramerPeter Wuerl
Aug 9, 2007·Virchows Archiv : an International Journal of Pathology·Martin AnlaufGünter Klöppel
Jul 17, 2008·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Chiara MussiPeter Hohenberger
Aug 2, 2008·Cancer·Jilong YangWei Zhang

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Citations

Apr 13, 2018·Journal of Neurogenetics·Parisa Sharafi, Sükriye Ayter

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