CLINICAL RELEVANCE OF KRAS MUTATION TESTING IN METASTATIC COLORECTAL USING DIFFERENT SEQUENCING PLATFORMS: A CASE REPORT
Introduction. Colorectal cancer (CRC) ranks as the second leading cause of cancer mortality and the third most common cancer worldwide. Recent statistics reveal a troubling rise in CRC incidence among adults under 50 in high-income countries, with rates increasing 1-4% annually. While screening advancements, including colonoscopy, have improved early detection and survival rates, metastatic cases with KRAS mutations remain challenging due to limited treatment options and mutation-driven resistance mechanisms.
Aim. The present study aims to analyze the clinical significance of multi-platform verification of KRAS gene mutation in a particular clinical case in order to optimize personalized treatment strategies for patients with KRAS-positive metastatic colorectal cancer.
Materials and methods. Our study reports the case of a 58-year-old female diagnosed with advanced-stage rectal adenocarcinoma with KRAS mutation and multi-organ metastasis. Following partial intestinal obstruction, the patient underwent resection surgery with cholecystectomy and metastasectomy, followed by FOLFOX chemotherapy and targeted therapy (TT). Despite initial stabilization, metastasis progressed to the lungs and liver. Multiplatform genetic analysis, including Next generation sequencing (NovaSeq 6000), Sanger sequencing, and droplet digital PCR (ddPCR), was employed to confirm KRAS variant status, highlighting minor platform-based discrepancies with clinical relevance.
Discussion. KRAS mutations profoundly affect CRC treatment strategies, particularly in relation to EGFR inhibitor eligibility. Multi-platform validation ensures accurate variant detection, critical for clinical decision-making. This case emphasizes the necessity of complementary assays, given the observed KRAS mutation’s influence on therapeutic outcomes. Cross-platform diagnostic guidelines are advocated to standardize detection thresholds and improve precision in treatment planning.
Conclusion. This case underscores the clinical significance of multiplatform KRAS mutation validation in metastatic CRC, highlighting the potential for improved diagnostic protocols to optimize personalized treatment strategies for KRAS-mutant CRC patients.
Nuray Ye. Tynyshtykbayeva1, https://orcid.org/0000-0002-9350-0746
Akbota M. Aitkulova1, https://orcid.org/0000-0001-5016-0932
Tomiris B. Kadenova1, https://orcid.org/0009-0004-9064-2273
Saule Ye. Rakhimova1, https://orcid.org/0000-0002-8245-2400
Diana Samatkyzy1, https://orcid.org/0000-0001-8129-6218
Tatiana I. Rogounovitch2, https://orcid.org/0000-0002-0616-3383
Asiya M. Kukanova3, https://orcid.org/0000-0001-6775-2993
Dinara A. Begimbetova1, https://orcid.org/0000-0002-0643-6257
Bakytgul A. Yermekbayeva1, https://orcid.org/0000-0003-1407-6332
Ulan A. Kozhamkulov1, https://orcid.org/0000-0002-9782-7631
Dauren A. Yerezhepov1, https://orcid.org/0000-0002-4161-1348
Ainur R. Akilzhanova1, https://orcid.org/0000-0001-6161-8355
Dos D. Sarbassov1, https://orcid.org/0000-0002-6848-1133
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Tynyshtykbayeva N.Ye., Aitkulova A.M., Kadenova T.B., Rakhimova S.Ye., Samatkyzy D., Rogounovitch T.I., Kukanova A.M., Begimbetova D.A., Yermekbayeva B.A., Kozhamkulov U.A., Yerezhepov D.A., Akilzhanova A.R., Sarbassov D.D. Clinical relevance of KRAS mutation testing in metastatic colorectal using different sequencing platforms: a case report // Nauka i Zdravookhranenie [Science & Healthcare]. 2024. Vol.26 (5), pp. 221-229. doi 10.34689/SH.2024.26.5.026Related publications:
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