[A Case of Lynch Syndrome with MLH1 Gene Mutation Identified by Comprehensive Genomic Profiling].

Le résumé fourni par la source

The patient was a woman in her 60s. She presented to our hospital following a positive fecal occult blood test. Colonoscopy revealed multiple advanced cancers in the transverse and sigmoid colon. A subtotal colectomy was performed, followed by adjuvant chemotherapy with the CAPOX regimen. Ten months after surgery, distant metastases to the lungs and mediastinal lymph nodes were observed. Comprehensive genomic profiling(CGP)revealed a mutation in the MLH1 gene. Next-generation sequencing of DNA derived from peripheral blood leukocytes identified a heterozygous pathogenic variant in the MLH1 gene, resulting in a diagnosis of Lynch syndrome. Treatment with immune checkpoint inhibitors(ipilimumab plus nivolumab)was initiated. After confirming a reduction in the size of the metastatic lesions, maintenance therapy with nivolumab monotherapy was continued. As of 4 years and 3 months post-surgery, tumor shrinkage has been sustained, with no evidence of new malignancies, recurrence, or metastasis. Given the presence of multiple colorectal cancers, a history of gynecologic malignancy, and a family history of gastrointestinal cancers, this case illustrates the importance of early consideration of hereditary tumors and highlights the clinical utility of genomic medicine.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.