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

Abstract

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 middleaged adult female.

Primary adrenal epithelioid sarcoma (proximal type): a case report and literature review

“…Patients with ES are typically CD34-positive, and INI-1 protein deletion is frequently found. 4 – 10 Therefore, relevant evidence suggests that the most specific finding in the diagnosis is the lack of INI-1 expression in tumor cells, which can also be used to distinguish ES from synovial sarcoma. The current treatment option for PES is lesion resection followed by radiotherapy.…”

“… 3 PES is relatively rare among adrenal tumors, with only seven reported cases to date. 4 – 10 The clinical manifestations, histological morphology, and prognosis differ between PES and DES. We herein report a case involving a patient with ES of the adrenal gland confirmed by pathology and preliminarily discuss the clinical features, diagnosis, treatment, and prognosis of this case based on the relevant literature.…”