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Journal of Case Reports
Multifocal GIST and Neurofibromatosis Type 1: Are They Related or Different Entity?
Aravinth Subramaniam1, Nalankilli Palanisamy2, Palanivelu Chinnusamy3, Divya Gnanasekaran1
Departments of 1Pathology, 2Surgical Gastroenterology, 3Minimal Invasive and G.I Surgery, GEM Hospital and Research Centre, Coimbatore-641045, Tamil Nadu, India.
Corresponding Author:
Dr. Aravinth Subramaniam
Email: aravinths1984@yahoo.com
Received: 11-DEC-2019 Accepted: 11-MAR-2020 Published Online: 20-MAR-2020
DOI: http://dx.doi.org/10.17659/01.2020.0015
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.
Keywords : Adult, Gastrointestinal Stromal Tumors, India, Neurofibromatosis, Small Intestine.
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