A KIT-negative, DOG1-positive Epithelioid GIST of the Stomach Harboring a Novel PDGFRA Exon 14 Single Nucleotide Deletion

Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal tumors of the gastrointestinal tract, and most of them harbor KIT or platelet-derived growth factor receptor alpha (PDGFRA) gain-of-function mutations. Proper diagnostic assessment of GISTs has become very important sinc...

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Bibliographic Details
Published in:Anticancer research 2012-05, Vol.32 (5), p.1775-1778
Main Authors: RIZZARDI, Clara, MARZINOTTO, Stefania, AVELLINI, Claudio, MELATO, Mauro, MARIUZZI, Laura
Format: Article
Language:English
Subjects:
Aged
Aged, 80 and over
Anoctamin-1
Biological and medical sciences
biomarkers
Chloride Channels - analysis
Exons
Frameshift mutation
Gastroenterology. Liver. Pancreas. Abdomen
Gastrointestinal Stromal Tumors - genetics
Gastrointestinal tract
Gene deletion
Humans
Imatinib
Immunohistochemistry
Male
Medical sciences
Mesenchyme
Neoplasm Proteins - analysis
Nucleotides
Platelet-derived growth factor receptors
Proto-Oncogene Proteins c-kit - analysis
Receptor, Platelet-Derived Growth Factor alpha - genetics
Sequence Deletion
Stomach
Stomach Neoplasms - chemistry
Stomach Neoplasms - genetics
Stomach Neoplasms - pathology
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Tumors
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Description
Summary:Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal tumors of the gastrointestinal tract, and most of them harbor KIT or platelet-derived growth factor receptor alpha (PDGFRA) gain-of-function mutations. Proper diagnostic assessment of GISTs has become very important since the availability of the molecular-targeted therapy with imatinib mesylate. Histopathology remains the gold standard in GIST diagnosis, and immunohistochemistry plays the major confirmatory role. Moreover, genetic sequencing not only further confirms the diagnosis of GIST, but also provides information for the optimal treatment of patients. Herein, we describe a gastric GIST harboring a novel PDGFRA exon 14 frameshift mutation caused by a single-nucleotide deletion. The case reported here represents further evidence regarding the existence of a distinct subset of GISTs characterized by the PDGFRA mutation, the gastric localisation, the epithelioid morphology, and the weak or negative immunohistochemical expression of KIT. DOG1 is emerging as a promising biomarker for this subgroup of GISTs.
ISSN:0250-7005
1791-7530