Prevalence of CKIT and PDGFRA mutation in gastrointestinal stromal tumors among Filipinos

Jenissa Amor Arceñ; O-belardo; Raymundo Lo; Rubi Li; Glenda Lyn Pua; Jose Jasper Andal; Loraine Kay Cabral; Mark Lourence Belardo; Irene Joy Uy; Arlie Jean Grace Dumasis; Bianca Patrice Go; Clydien Kirshee Obong; Daphne Ang

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Prevalence of CKIT and PDGFRA mutation in gastrointestinal stromal tumors among Filipinos

Author: Jenissa Amor Arceño-Belardo ¹ ; Raymundo Lo ¹ ; Rubi Li ¹ ; Glenda Lyn Pua ¹ ; Jose Jasper Andal ¹ ; Loraine Kay Cabral ² ; Mark Lourence Belardo ³ ; Irene Joy Uy ² ; Arlie Jean Grace Dumasis ² ; Bianca Patrice Go ² ; Clydien Kirshee Obong ² ; Daphne Ang ¹
Author Information

1. Institute of Pathology, St. Lukes Medical Center, Quezon City, Philippines
2. Research and Biotechnology Division, St. Lukes Medical Center, Quezon City, Philippines
3. St. Lukes Medical Center - College of Medicine, Quezon City, Philippines
Publication Type:Journal Article
Keywords: GIST; Sequencing; CD117l; CKIT; PDGFRA
MeSH: Gastrointestinal Stromal Tumors
From: Philippine Journal of Pathology 2022;7(2):28-35
CountryPhilippines
Language:English
Abstract: Background:Gastrointestinal stromal tumors (GIST) is 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 greatly 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 formalin-fixed and paraffin embedded gastrointestinal stromal tumors and other gastrointestinal mesenchymal tumors in St. Luke’s Medical Center – Quezon City.
Methods: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.
Result: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 showed predominantly 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 mutations 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 treatment protocol in our patients.
Full text:23 pjp.pdf