SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature

Abstract

The 5th WHO classification of thoracic tumours includes thoracic SMARCA4-deficient undifferentiated tumour (SMARCA4-UT) among the "other epithelial tumours of the lung" chapter. Herein, we present a case of undifferentiated thoracic neoplasm with retention of SMARCA4 expression, lack of NUT fusion protein and loss of SMARCB1/INI1 expression. After presenting the clinical and pathological features of the tumour, we carried out a review of the literature on the same topic. Albeit very rare, we believe this entity should be included in the heterogeneous group of undifferentiated neoplasms of the thorax.

Keywords: SMARCA4-deficient undifferentiated tumour; SMARCB1-deficient undifferentiated tumour; SWI/SNF complex; thoracic undifferentiated tumours.