SMARCA4-Deficient Undifferentiated Thoracic Tumor: Clinical Features and Prognosis of a Case Series and Literature Review.

ABSTRACT:

Introduction

Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UT) are rare and aggressive epithelioid neoplasms characterized by the loss of the SMARCA4 gene. These tumors are typically diagnosed at advanced stages and exhibit a dismal prognosis. Currently, there are no standardized treatment protocols or approved targeted therapies.

Methods

We present a case series of nine patients diagnosed of thoracic SMARCA4-UT, detailing demographic, pathological, imaging, and treatment data. Moreover, a comprehensive literature review and genomic analysis of SMARCA4 mutations in lung cancer were also performed.

Results

The cohort comprised predominantly male smokers (mean age: 63.0 ± 9.6 years). All cases exhibited loss of BRG1 expression, with negative staining for T

SUBMITTER: Shan F 

PROVIDER: S-EPMC12830063 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature