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

  • Jenissa Amor Arceno-Belardo St. Luke’s Medical Center, Quezon City, Philippines https://orcid.org/0000-0002-9949-3313
  • Raymundo Lo St. Luke’s Medical Center, Quezon City, Philippines https://orcid.org/0000-0002-6194-430X
  • Rubi Li St. Luke’s Medical Center, Quezon City, Philippines
  • Glenda Lyn Pua St. Luke’s Medical Center, Quezon City, Philippines https://orcid.org/0000-0002-7436-0178
  • Jose Jasper Andal St. Luke’s Medical Center, Quezon City, Philippines
  • Loraine Kay Cabral St. Luke’s Medical Center, Quezon City, Philippines https://orcid.org/0000-0001-7931-7489
  • Mark Lourence Belardo St. Luke’s Medical Center-College of Medicine, Quezon City, Philippines https://orcid.org/0000-0002-9227-4361
  • Irene Joy Uy St. Luke’s Medical Center, Quezon City, Philippines https://orcid.org/0000-0002-8589-0350
  • Arlie Jean Grace Dumasis St. Luke’s Medical Center, Quezon City, Philippines
  • Bianca Patrice Go St. Luke’s Medical Center, Quezon City, Philippines
  • Clydien Kirshee Obong St. Luke’s Medical Center, Quezon City, Philippines
  • Daphne Ang St. Luke’s Medical Center, Quezon City, Philippines
Keywords: Gastrointestinal Stromal Tumors, GIST, sequencing, CD117, CKIT, PDGFRA

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.

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Author Biographies

Jenissa Amor Arceno-Belardo, St. Luke’s Medical Center, Quezon City, Philippines

Institute of Pathology

Raymundo Lo, St. Luke’s Medical Center, Quezon City, Philippines

Institute of Pathology

Rubi Li, St. Luke’s Medical Center, Quezon City, Philippines

Institute of Pathology

Glenda Lyn Pua, St. Luke’s Medical Center, Quezon City, Philippines

Institute of Pathology

Jose Jasper Andal, St. Luke’s Medical Center, Quezon City, Philippines

Institute of Pathology

Loraine Kay Cabral, St. Luke’s Medical Center, Quezon City, Philippines

Research and Biotechnology Division

Irene Joy Uy, St. Luke’s Medical Center, Quezon City, Philippines

Research and Biotechnology Division

Arlie Jean Grace Dumasis, St. Luke’s Medical Center, Quezon City, Philippines

Research and Biotechnology Division

Bianca Patrice Go, St. Luke’s Medical Center, Quezon City, Philippines

Research and Biotechnology Division

Clydien Kirshee Obong, St. Luke’s Medical Center, Quezon City, Philippines

Research and Biotechnology Division

Daphne Ang, St. Luke’s Medical Center, Quezon City, Philippines

Institute of Pathology

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Published
2022-12-13
How to Cite
Arceno-Belardo, J. A., Lo, R., Li, R., Pua, G. L., Andal, J. J., Cabral, L. K., Belardo, M. L., Uy, I. J., Dumasis, A. J. G., Go, B. P., Obong, C. K., & Ang, D. (2022). Prevalence of CKIT and PDGFRA Mutation in Gastrointestinal Stromal Tumors among Filipinos. PJP, 7(2), 28-35. https://doi.org/10.21141/10.21141/PJP.2022.16
Section
Original Articles