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Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

Ke, Hengning; Kazi, Julhash U. LU ; Zhao, Hui and Sun, Jianmin LU (2016) In Cell and Bioscience 6(1).
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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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Cancer, KIT, Signal transduction, Targeted therapy
in
Cell and Bioscience
volume
6
issue
1
publisher
BioMed Central
external identifiers
  • scopus:84992166136
  • wos:000386100200001
ISSN
2045-3701
DOI
10.1186/s13578-016-0120-8
language
English
LU publication?
yes
id
8fd6a650-1095-450a-ba2f-5234385e7381
date added to LUP
2016-11-14 13:27:09
date last changed
2017-10-22 05:21:54
@article{8fd6a650-1095-450a-ba2f-5234385e7381,
  abstract     = {<p>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.</p>},
  articleno    = {55},
  author       = {Ke, Hengning and Kazi, Julhash U. and Zhao, Hui and Sun, Jianmin},
  issn         = {2045-3701},
  keyword      = {Cancer,KIT,Signal transduction,Targeted therapy},
  language     = {eng},
  month        = {10},
  number       = {1},
  publisher    = {BioMed Central},
  series       = {Cell and Bioscience},
  title        = {Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis},
  url          = {http://dx.doi.org/10.1186/s13578-016-0120-8},
  volume       = {6},
  year         = {2016},
}