An Adrenal SMARCB1/INI1 Deficient Proximal Epithelioid Sarcoma in a Middle-Aged Female: A Case Report

Proximal epithelioid sarcomas are rare soft tissue sarcomas that have been documented in a diverse range of presentations. However, there have been few cases describing adrenal presentations. These neoplasms are thought to be driven by a loss of SWItch/sucrose non-fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1), also known as integrase interactor 1 (INI1). SMARCB1/INI1 is a tumor suppressor gene thought to play a role in multiple malignancies with varying degrees of gene expression. Complete loss of SMARCB1/INI1 has most commonly been described in the English scientific literature as malignant rhabdoid tumors of renal origin within pediatric populations and proximal epithelioid sarcomas in adult populations. We describe a case of a primary adrenal proximal epithelioid sarcoma demonstrating complete loss of SMARCB1/INI1 in a middle-aged adult female.