Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations.

doi:10.1038/gim.2014.115

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Article

Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2015

Pantaleo Maria A, Lolli Cristian, Nannini Margherita, Astolfi Annalisa, Indio Valentina, Saponara Maristella, Urbini Milena, La Rovere Stefano, Gill Antony, Goldstein David, Ceccarelli Claudio, Santini Donatella, Rossi Giulio, Fiorentino Michelangelo, Di Scioscio Valerio, Fusaroli Pietro, Mandrioli Anna, Gatto Lidia, Catena Fausto, Basso Umberto, Ercolani Giorgio, Pinna Antonio Daniele, Biasco Guido

Abstract excerpt

PURPOSE: A subset of patients with KIT/PDGFRA wild-type gastrointestinal stromal tumors show loss of function of succinate dehydrogenase, mostly due to germ-line mutations of succinate dehydrogenase subunits, with a predominance of succinate dehydrogenase subunit A. The clinical outcome of these patients seems favorable, as reported in small series in which patients were individually described. This work...

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Identifiers

PMID: 25188872
DOI: 10.1038/gim.2014.115

Genes

KIT
PDGFRA
SDHA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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