Extramedullary myeloma is genomically complex and characterized by near-universal MAPK pathway alterations.

ABSTRACT:

Abstract

Extramedullary disease (EMD) is associated with an inferior prognosis and lower response rates to conventional multiple myeloma (MM)-directed therapies compared to MM without EMD. A deeper understanding of the molecular landscape and underlying drivers of EMD is essential to identify potential targets for novel therapeutic strategies. To address this, we performed whole-exome sequencing on EMD tumor tissue from 18 unique patients and bone marrow aspirates (BMAs) from 20 patients at the time of EMD development. Notably, paired EMD and BMA samples were collected from 6 patients at the point of EMD diagnosis, allowing for direct comparison of molecular profiles. Our analysis revealed a near-universal presence of mutations within the MAPK pathway in EMD samples (94%), compared

SUBMITTER: Zanwar S 

PROVIDER: S-EPMC12337168 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature