Germline Mutations of KIT in Gastrointestinal Stromal Tumor (GIST) and Mastocytosis

Overview

Journal Cell Biosci

Publisher Biomed Central

Specialty Biology

Date 2016 Oct 26

PMID 27777718

Citations 26

Authors

Hengning Ke

Julhash U Kazi

Hui Zhao

Jianmin Sun

Affiliations

Soon will be listed here.

Abstract

Somatic mutations of KIT are frequently found in mastocytosis and gastrointestinal stromal tumor (GIST), while germline mutations of KIT are rare, and only found in few cases of familial GIST and mastocytosis. Although ligand-independent activation is the common feature of KIT mutations, the phenotypes mediated by various germline KIT mutations are different. Germline KIT mutations affect different tissues such as interstitial cells of Cajal (ICC), mast cells or melanocytes, and thereby lead to GIST, mastocytosis, or abnormal pigmentation. In this review, we summarize germline KIT mutations in familial mastocytosis and GIST and discuss the possible cellular context dependent transforming activity of KIT mutations.

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