Multifocal GIST and Neurofibromatosis Type 1: Are They Related or Different Entity?

[摘要] Background: Neurofibromatosis type 1 (NF-1) also called as Von Recklinghausen’s disease caused by functional loss of neurofibromin, a GTPase activating protein is a neurocutaneous disorder. It has multiple pigmentary and dermal lesions. Gastrointestinal stromal tumor (GIST) is one of the noted neoplasms to occur in neurofibromatosis type 1. Unlike sporadic GIST, NF-1 associated GIST is multiple and tends to occur in small intestine with different molecular pathway. Case Report: Here we are presenting a rare case of multifocal GIST in a 31 year old female with history of NF-1 managed in a tertiary care gastroenterology medical centre in India. Conclusion: This case of multifocal GIST associated with neurofibromatosis type 1 will be an eye opener for all doctors so that they investigate all neurofibromatosis patients to look for associated manifestations which are not evident clinically.

[学科分类] 生理学

[关键词] Adult;Gastrointestinal Stromal Tumors;India;Neurofibromatosis;Small Intestine.