Abstract
Identification of the mutational status of genes driving the tumor process in patients with colorectal cancer (CRC) is now standard clinical practice in oncology, essential for stratification and targeting of appropriate therapy.
Nevertheless, data on molecular biomarkers in patients with CRC in Slovakia are limited and cases of co-occurrence of multiple so-called „driver“ mutations in a single patient, and the resulting prognosis for patients, are poorly described in the domestic and international literature. In our study, we analyzed tumor tissue from 196 patients diagnosed with CRC in the National Cancer Institute (NCI) database, focusing on mutations in the BRAF and KRAS/NRAS genes, and identified a patient who carried both mutations simultaneously based on histological examination of the tumor. The literature points to the mutual exclusivity of the occurrence of these mutations in a single tumor and, together with the microsatellite instability exhibited by the tumor, this is a combination of markers about which minimal knowledge is available. As additional parameters, we investigated TNM staging, grading, the percentage of tumor cells in the biopsy sample, as well as the expression of ki-67 as a marker of tumor proliferation. This case study discusses the rare occurrence and relationship of these biomarkers, as well as the prognostic and therapeutic implications for the patient in the context of the microsatellite instability of the tumor in question, and compares this finding with globally published case reports and therapeutic options (Ref. 43). Text in PDF www.lekarsky.herba.sk.
KEY WORDS: KRAS, BRAF, colorectal carcinoma, microsatelite instability, predictive and prognostic biomarks.
Lek Obz 2024, 73 (5): 161-165
Tomáš RENDEK 1, Rami SAADE 2, Georgína KOLNÍKOVÁ 3, Monika URBANOVÁ 3, Miroslav TOMÁŠ 4 , Ľuboslav MIHÓK 5,
Vanda REPISKÁ 1
1 Ústav lekárskej biológie, genetiky a klinickej genetiky LF UK a UN Bratislava, prednosta doc. RNDr. Ľ. Danišovič, PhD.
2 II. gynekologicko-pôrodnícka klinika LF UK a UNB Nemocnica Ružinov, prednosta prof. MUDr. J. Záhumenský, PhD.
3 Oddelenie patologickej anatómie, Národný Onkologický Ústav, Bratislava, primárka MUDr. G. Kolníková, PhD.
4 Klinika chirurgickej onkológie SZU a NOÚ, Bratislava, prednosta prof. MUDr. D. Pinďák, PhD.
5 Národný onkologický ústav, Oddelenie onkologickej genetiky, Bratislava, vedúci oddelenia Ing. M. Čermák
