LQCL2413 - CMLE - MUTYH-Associated Polyposis Syndrome Identified by Tumor Marker Panel Testing-MUTYH-Associated Polyposis Syndrome Identified by Tumor Marker Panel Testing

MUTYH-Associated Polyposis Syndrome Identified by Tumor Marker Panel Testing

Pdf Summary

The document provides insights into the use of molecular diagnostics in oncology, focusing on a case study of a 42-year-old woman with mucinous adenocarcinoma. It discusses the utility of next-generation sequencing (NGS) for identifying mutations, treatment implications, and germline mutation testing. The patient's NGS panel results revealed mutations in genes like MUTYH, BRCA1, and KRAS, impacting treatment options like PARP inhibitors or KRAS inhibitors. Additionally, the presence of high tumor mutation burden and specific mutations indicated poor prognosis and potential treatment options such as immune checkpoint inhibitors. Furthermore, the identification of biallelic MUTYH mutations suggested MUTYH-associated polyposis syndrome, implicating hereditary cancer risks and the need for genetic testing in family members. The document highlights the importance of NGS profiling in oncology for personalized treatment and early detection of hereditary cancer syndromes, emphasizing the significance of timely interventions for improved patient outcomes and family risk assessment.

Keywords

molecular diagnostics

oncology

case study

mucinous adenocarcinoma

next-generation sequencing

mutations

treatment implications

germline mutation testing

PARP inhibitors

immune checkpoint inhibitors