Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma

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. Bot...

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Autores principales: Ahmed, Omar T, Nam, Ga Hie, Shui, Yuan, Villavicencio, Jaimy, Vaziri, Haleh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Pathology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9707608/
https://www.ncbi.nlm.nih.gov/pubmed/36457612
http://dx.doi.org/10.7759/cureus.30874
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author Ahmed, Omar T
Nam, Ga Hie
Shui, Yuan
Villavicencio, Jaimy
Vaziri, Haleh
author_facet Ahmed, Omar T
Nam, Ga Hie
Shui, Yuan
Villavicencio, Jaimy
Vaziri, Haleh
author_sort Ahmed, Omar T
collection PubMed
description 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.
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spelling pubmed-97076082022-11-30 Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma Ahmed, Omar T Nam, Ga Hie Shui, Yuan Villavicencio, Jaimy Vaziri, Haleh Cureus Pathology 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. Cureus 2022-10-30 /pmc/articles/PMC9707608/ /pubmed/36457612 http://dx.doi.org/10.7759/cureus.30874 Text en Copyright © 2022, Ahmed et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pathology
Ahmed, Omar T
Nam, Ga Hie
Shui, Yuan
Villavicencio, Jaimy
Vaziri, Haleh
Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma
title Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma
title_full Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma
title_fullStr Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma
title_full_unstemmed Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma
title_short Case Series of SMARCA4-Deficient Undifferentiated Esophageal Carcinoma
title_sort case series of smarca4-deficient undifferentiated esophageal carcinoma
topic Pathology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9707608/
https://www.ncbi.nlm.nih.gov/pubmed/36457612
http://dx.doi.org/10.7759/cureus.30874
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