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Extensive Degenerative Change Masquerading Histomorphology in a Giant Cystic Gastrointestinal Stromal Tumor With Rare PDGFRA Mutation

Gastrointestinal stromal tumors (GISTs) are the most frequent type of mesenchymal tumors of the gastrointestinal (GI) tract, and most of the time they acquire the mutation of special kinds of genes. GISTs may be familial or inherited and affect several family members of the family or can be sporadic...

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Detalles Bibliográficos
Autores principales: Rahman, Jawaria, Rahmanuddin, Syed, Sham, Sunder, Sonawane, Snehal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7538027/
https://www.ncbi.nlm.nih.gov/pubmed/33042650
http://dx.doi.org/10.7759/cureus.10772
Descripción
Sumario:Gastrointestinal stromal tumors (GISTs) are the most frequent type of mesenchymal tumors of the gastrointestinal (GI) tract, and most of the time they acquire the mutation of special kinds of genes. GISTs may be familial or inherited and affect several family members of the family or can be sporadic. The risk of GIST is increased in people with mutations in the receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor alpha (PDGFRA) genes. In this report, we present a case of a large GIST with extensive cystic and degenerative change in a 76-year-old female patient with a rare Asp842-His845 deletion mutation detected in PDGFRA exon 18, that required subtotal gastrectomy with en bloc resection.