RESUMEN

Background Early relapse in colorectal cancer (CRC) after curative resection is mainly attributed to the key determinants such as tumor histology, stage, lymphovascular invasion, and the response to chemotherapy. Case presentation Interindividual variability in the efficacy of adjuvant chemotherapy between patients receiving the same treatment may be ascribed to the patients' genetic profile. In this report, we highlight a clinical case of a patient with stage II CRC who relapsed within a short period after starting adjuvant chemotherapy and was later found to have multiple genetic polymorphisms in the DPYD, TYMS, MTHFR, and DHFR genes. Conclusions Based on the clinical data of the patient and the key role of these genes in 5-fluorouracil pathway, we hypothesize that these variants may contribute to the drug response and early relapse in CRC.

Asunto(s)

Antimetabolitos Antineoplásicos/uso terapéutico , Neoplasias Colorrectales/tratamiento farmacológico , Neoplasias Colorrectales/genética , Fluorouracilo/uso terapéutico , Recurrencia Local de Neoplasia/genética , Polimorfismo Genético , Antimetabolitos Antineoplásicos/administración & dosificación , Quimioterapia Adyuvante , Neoplasias Colorrectales/metabolismo , Neoplasias Colorrectales/cirugía , Dihidrouracilo Deshidrogenasa (NADP)/genética , Femenino , Fluorouracilo/administración & dosificación , Ácido Fólico/metabolismo , Humanos , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Persona de Mediana Edad , Recurrencia Local de Neoplasia/metabolismo , Pruebas de Farmacogenómica , Tetrahidrofolato Deshidrogenasa/genética , Timidilato Sintasa/genética