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SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report

Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4...

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Autores principales: Sirák, Igor, Laco, Jan, Vošmiková, Hana, Mell, Loren K., Herrera, Fernanda G., Šenkeříková, Mária, Vošmik, Milan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8712336/
https://www.ncbi.nlm.nih.gov/pubmed/34970085
http://dx.doi.org/10.3389/pore.2021.1610003
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author Sirák, Igor
Laco, Jan
Vošmiková, Hana
Mell, Loren K.
Herrera, Fernanda G.
Šenkeříková, Mária
Vošmik, Milan
author_facet Sirák, Igor
Laco, Jan
Vošmiková, Hana
Mell, Loren K.
Herrera, Fernanda G.
Šenkeříková, Mária
Vošmik, Milan
author_sort Sirák, Igor
collection PubMed
description Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.
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spelling pubmed-87123362021-12-29 SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report Sirák, Igor Laco, Jan Vošmiková, Hana Mell, Loren K. Herrera, Fernanda G. Šenkeříková, Mária Vošmik, Milan Pathol Oncol Res Pathology and Oncology Archive Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT. Frontiers Media S.A. 2021-12-14 /pmc/articles/PMC8712336/ /pubmed/34970085 http://dx.doi.org/10.3389/pore.2021.1610003 Text en Copyright © 2021 Sirák, Laco, Vošmiková, Mell, Herrera, Šenkeříková and Vošmik. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pathology and Oncology Archive
Sirák, Igor
Laco, Jan
Vošmiková, Hana
Mell, Loren K.
Herrera, Fernanda G.
Šenkeříková, Mária
Vošmik, Milan
SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report
title SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report
title_full SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report
title_fullStr SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report
title_full_unstemmed SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report
title_short SMARCA4-Deficient Carcinoma of Uterine Cervix Resembling SCCOHT—Case Report
title_sort smarca4-deficient carcinoma of uterine cervix resembling sccoht—case report
topic Pathology and Oncology Archive
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8712336/
https://www.ncbi.nlm.nih.gov/pubmed/34970085
http://dx.doi.org/10.3389/pore.2021.1610003
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