Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Nov;47(2):401-8.
doi: 10.1007/s12020-014-0346-3. Epub 2014 Jul 16.

The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations

Sosipatros A Boikos  1 , Constantine A Stratakis
Affiliations
Review

The genetic landscape of gastrointestinal stromal tumor lacking KIT and PDGFRA mutations

Sosipatros A Boikos et al. Endocrine. 2014 Nov.

Abstract

About 10-15 % of adult gastrointestinal stromal tumors (GISTs) and 85 % of pediatric GISTs do not have mutations in the KIT or PDGFRA genes and are generally classified as KIT/PDGFRA wild type (WT). Recent studies have shown that this group of KIT/PDGFRA WT GISTs is quite heterogeneous in terms of clinical phenotype, genetic etiology, and molecular pathways. Succinate dehydrogenase subunit (SDH)-deficient GISTs, which include tumors that are part of multiple endocrine neoplasia syndromes, are the newest group of KIT/PDGFRA WT GIST to be molecularly elucidated. This review aims to describe the different genetic subgroups of KIT/PDGFRA WT GIST, with a special focus on the SDH-deficient GIST.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Succinate dehydrogenase (complex II) and epigenetic regulation. TET ten–eleven translocation, KDM lysine (K) demethylase, PHD prolyl hydroxylase
Fig. 2
Fig. 2
A classification of gastrointestinal stromal tumors
See this image and copyright information in PMC

References

    1. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J Clin Oncol. 2004;22:3813–3825. - PubMed
    1. Perez EA, Livingstone AS, Franceschi D, Rocha-Lima C, Lee DJ, Hodgson N, Jorda M, Koniaris LG. Current incidence and outcomes of gastrointestinal mesenchymal tumors including gastrointestinal stromal tumors. J Am Coll Surg. 2006;202:623–629. - PubMed
    1. Nilsson B, Bümming P, Meis-Kindblom JM, Odén A, Dortok A, Gustavsson B, Sablinska K, Kindblom L-G. Gastrointestinal stromal tumors: the incidence, prevalence, clinical course, and prognostication in the preimatinib mesylate era—a population-based study in western Sweden. Cancer. 2005;103:821–829. - PubMed
    1. Tryggvason G, Gíslason HG, Magnússon MK, Jónasson JG. Gastrointestinal stromal tumors in Iceland, 1990–2003: the ice-landic GIST study, a population-based incidence and pathologic risk stratification study. Int J Cancer. 2005;117:289–293. - PubMed
    1. Hirota S, Isozaki K, Moriyama Y, Hashimoto K, Nishida T, Ishiguro S, Kawano K, Hanada M, Kurata A, Takeda M, Muhammad Tunio G, Matsuzawa Y, Kanakura Y, Shinomura Y, Kitamura Y. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science. 1998;279:577–580. - PubMed

MeSH terms

Substances

LinkOut - more resources