Thoracic SMARCA4-deficient undifferentiated tumor-a case of an aggressive neoplasm-case report.

ABSTRACT: Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are aggressive neoplasms that most commonly occur in the mediastinum of male smokers. These tumors are characterized by an inactivating mutation of SMARCA4 resulting in loss of expression of brahma-related gene 1 (BRG1). These tumors can have a variable immunophenotype but in general have no or only focal keratin expression and characteristically lack expression of BRG1. Most patients have metastatic disease at time of presentation. Usually SMARCA4-UT progress or recur and the median survival of these patients is only approximately half a year. Preclinical and clinical trials using enhancer of zeste homolog (EZH2) inhibitors are underway to potentially treat this neoplasm. In addition, rare cases of successful treatment

SUBMITTER: Roden AC 

PROVIDER: S-EPMC8794332 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature