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Article

Stromal, fibrous, and fatty gastrointestinal tumors in a patient with a PDGFRA gene mutation.

The American journal of surgical pathology - 1 Sept 2008

Carney J Aidan, Stratakis Constantine A

Abstract excerpt

We report the case of a woman with 3 different types of gastrointestinal tumors--stromal, fibrous, and fatty--and a germline defect of the platelet-derived growth factor receptor alpha (PDGFRA) gene (V561D). The patient, now 52 years old, presented in 1977 at age 22 years with a gastric tumor and a duodenal lipoma. Subsequently, she developed obstructing small intestinal fibrous tumors that required 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18670346
DOI: 10.1097/PAS.0b013e31816250ce
PMCID: PMC3139498

Genes

KIT
PDGFRA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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