Platelet-Derived Growth Factor Receptor-Alpha D842v Mutation in a Spindle Cell Type Gastrointestinal Stromal Tumor: A Case Report

Arceño, Jenissa Amor; Chua, Kathleen Shari; Cabral, Loraine Kay; Dumasis, Arlie Jean Grace; Andal, Jose Jasper; Lo, Raymundo; Pua, Glenda Lyn; Ang, Daphne

doi:10.21141/pjp.2018.004

Cited by 1 publication

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“…26 Prior to the wide use of immunohistochemical stains, GISTs were thought to be smooth muscle tumors and classified as cellular leiomyomas, leiomyoblastomas, and leiomyosarcomas D842V GIST mutations, as previously discussed in recent publications is of importance due to its contradicting behavior and therapeutic response. 40 GISTs with PDGFRA D842V usually have an epithelioid morphology, indolent course and remain localized with low risk of recurrence. However, GISTs harboring this mutation are usually resistant to imatinib.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of CKIT and PDGFRA Mutation in Gastrointestinal Stromal Tumors among Filipinos

Arceno-Belardo¹,

Lo²,

Li³

et al. 2022

PJP

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Background. Gastrointestinal stromal tumors (GIST) are defined as specific, typically kit (CD117)-positive and CKIT or platelet-derived growth factor receptor alpha (PDGFRA) mutation-driven mesenchymal tumors that can occur anywhere in the GI tract. GIST diagnosis relies heavily on immunohistomorphology. However, with the advent of molecular testing, the classification, diagnosis, and targeted therapy for gastrointestinal mesenchymal tumors have been improved. In the Philippines, molecular testing is not yet readily available as in other countries. The local molecular profile of gastrointestinal stromal tumors is a point of investigation as treatment may be more tailored to the patients' needs.Objective. This study aims to determine the prevalence of CKIT and PDGFRA mutations among formalinfixed and paraffin embedded gastrointestinal stromal tumors and other gastrointestinal mesenchymal tumors in St. Luke's Medical Center -Quezon City. Methodology.A retrospective cross-sectional study of formalin fixed and paraffin embedded tumor samples diagnosed as Gastrointestinal Stromal Tumor from January 1, 2009 to December 31, 2017 will be analyzed for KIT and PDGFRA mutations.Results. The epidemiology of GIST remains constant in that mean age group is the 5th to 6th decade, with equal gender distribution, and stomach followed by small bowel are the most common sites. Mutational analysis of the GISTs predominantly showed KIT Exon 11 (47.83%) followed by CKIT Exon 9 (13.04%) and PDGFRA Exon 18 (10.87%). For KIT Exon 11, deletion is the most common mutation followed by point mutations. No mutation is detected in 47.83% of GISTs. Conclusion.Mutational analysis for CKIT-PDGFRA is warranted among GIST patients, as it may significantly influence the treatment protocol of patients.

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Section: Discussionmentioning

confidence: 99%