SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma

Fatma Khanchel,Aschraf Chadli,Raweh Hedhili,Hend Ben Néji,Raja Jouini,Ehsen Ben Brahim,Imen Helal,Feryel Ksontini,Abdelwahed Yahmadi,Hakim Zenaidi

doi:10.1007/s11748-021-01627-z

Abstract

SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently identified aggressive subtype of sarcoma. We present the case of a 44-year-old man who underwent a surgery for a perforated small intestine. Compued tomography scan revealed a tissular mediastino–pulmonary mass.Histopathological examination of the intestinal mass shown a malignant tumour with a typical epithelioid and rhabdoid cells, numerous mitoses and large necrosis. A large panel of immunohistochemistry revealed loss of SMARCA4 and SMARCA2 and allowed the diagnosis of SMARCA4-DTS. It is important to consider SMARCA4-deficient thoracic sarcoma in the differential diagnosis of tumours showing suggestive morphologic features in patients of all ages, especially in the case of metastasis associated with thoracic mass.

Highlights

Case reportSMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a distinct subset of intrathoracic tumors, recognised for the first time in 2015 by Le Loarer et al [1]
This tumor is characterized by inactivating mutations of SMARC4, a gene encoding the ATPase subunit of the switch/sucrose non-fermenting (SWI/SNF) chromatin remodelling complexes
We report a case of a SMARCA4-DTS revealed by intestinal metastasis with an emphasis on differential diagnosis

Summary

Introduction

Case reportSMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a distinct subset of intrathoracic tumors, recognised for the first time in 2015 by Le Loarer et al [1]. Recognizing SMARCA4-DTS from other malignant epithelioid tumors is clinically relevant. We report a case of a SMARCA4-DTS revealed by intestinal metastasis with an emphasis on differential diagnosis.

Results

Conclusion