SMARCA4/SMARCA2-Deficient Undifferentiated Metastatic Malignant Tumor with Carcinoma of Unknown Primary: Case Report

Abstract

Introduction: SMARCA4/SMARCA2 deficiencies have been linked to a variety of neoplasms and have been mainly described in cases of thoracic non-small cell lung cancers. Case Presentation: Here we present a case of SMARCA4/SMARCA2-deficient undifferentiated metastatic malignant tumor with carcinoma of unknown primary. The staining on pathology as well as the unremarkable size of the lung masses raises the possibility of dedifferentiated tumor of unknown primary. Conclusion: This case highlights the need for more routine testing of SMARCA4/SMARCA2 deficiencies as well as the development of more targeted therapies as these mutations are often associated with an aggressive course and poor outcomes.

Keywords

• smarca4
• smarca2
• carcinoma of unknown primary
• case report