Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma

Omar T Ahmed; Ga Hie Nam; Yuan Shui; Jaimy Villavicencio; Haleh Vaziri

doi:10.7759/cureus.30874

Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma

Cureus. 2022 Oct 30;14(10):e30874. doi: 10.7759/cureus.30874. eCollection 2022 Oct.

Authors

Omar T Ahmed¹, Ga Hie Nam², Yuan Shui², Jaimy Villavicencio³, Haleh Vaziri³

Affiliations

¹ Department of Internal Medicine, University of Connecticut, Farmington, USA.
² Department of Pathology and Laboratory Medicine, University of Connecticut, Farmington, USA.
³ Department of Gastroenterology and Hepatology, University of Connecticut, Farmington, USA.

Abstract

Undifferentiated esophageal carcinomas (UEC) are rare, with aggressive behavior and a dismal prognosis. An extremely rare subset is the SMARCA4-deficient UEC, which has only been reported in 14 cases to date. We present two cases of male patients (39- and 64-year-old) with SMARCA4-deficient UEC. Both patients had evidence of metastatic disease on presentation, progressed rapidly, and passed away within three months from the presentation. We aim to raise awareness of this underreported disease and contribute to the exploration of the possible underlying pathology and risk factors.

Keywords: brg1; carcinoma; deficient; esophageal; malignancy; smarca4; tumor; undifferentiated.

Publication types

Case Reports