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Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition

Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding...

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Autores principales: Simões, Maria Fernanda Evangelista, da Costa, Alexandre André Balieiro Anastácio, Silva, Tullio Novaes, Fernandes, Lizieux, Bovolim, Graziele, Torrezan, Giovana Tardin, Carraro, Dirce Maria, Baiocchi, Glauco, Menezes, Ademir Narcizo Oliveira, Santana Dos Santos, Elizabeth, De Brot, Louise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8870484/
https://www.ncbi.nlm.nih.gov/pubmed/35200537
http://dx.doi.org/10.3390/curroncol29020037
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author Simões, Maria Fernanda Evangelista
da Costa, Alexandre André Balieiro Anastácio
Silva, Tullio Novaes
Fernandes, Lizieux
Bovolim, Graziele
Torrezan, Giovana Tardin
Carraro, Dirce Maria
Baiocchi, Glauco
Menezes, Ademir Narcizo Oliveira
Santana Dos Santos, Elizabeth
De Brot, Louise
author_facet Simões, Maria Fernanda Evangelista
da Costa, Alexandre André Balieiro Anastácio
Silva, Tullio Novaes
Fernandes, Lizieux
Bovolim, Graziele
Torrezan, Giovana Tardin
Carraro, Dirce Maria
Baiocchi, Glauco
Menezes, Ademir Narcizo Oliveira
Santana Dos Santos, Elizabeth
De Brot, Louise
author_sort Simões, Maria Fernanda Evangelista
collection PubMed
description Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment.
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spelling pubmed-88704842022-02-25 Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition Simões, Maria Fernanda Evangelista da Costa, Alexandre André Balieiro Anastácio Silva, Tullio Novaes Fernandes, Lizieux Bovolim, Graziele Torrezan, Giovana Tardin Carraro, Dirce Maria Baiocchi, Glauco Menezes, Ademir Narcizo Oliveira Santana Dos Santos, Elizabeth De Brot, Louise Curr Oncol Case Report Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare and aggressive condition that is associated with the SMARCA4 mutation and has a dismal prognosis. It is generally diagnosed in young women. Here, we report a case of a young woman with SCCOHT harboring a rare molecular finding with a highly aggressive biological behavior. The patient had a somatic SMARCB1 mutation instead of an expected SMARCA4 alteration. Even though the patient was treated with high-dose chemotherapy followed by stem cell transplantation, she evolved with disease progression and died 11 months after her first symptoms appeared. We present a literature review of this rare disease and discuss the findings in the present patient in comparison to expected molecular alterations and options for SCCOHT treatment. MDPI 2022-01-18 /pmc/articles/PMC8870484/ /pubmed/35200537 http://dx.doi.org/10.3390/curroncol29020037 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Simões, Maria Fernanda Evangelista
da Costa, Alexandre André Balieiro Anastácio
Silva, Tullio Novaes
Fernandes, Lizieux
Bovolim, Graziele
Torrezan, Giovana Tardin
Carraro, Dirce Maria
Baiocchi, Glauco
Menezes, Ademir Narcizo Oliveira
Santana Dos Santos, Elizabeth
De Brot, Louise
Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
title Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
title_full Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
title_fullStr Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
title_full_unstemmed Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
title_short Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with SMARCB1 Mutation: A Literature Review of a Rare and Aggressive Condition
title_sort case report of small cell carcinoma of the ovary, hypercalcemic type (ovarian rhabdoid tumor) with smarcb1 mutation: a literature review of a rare and aggressive condition
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8870484/
https://www.ncbi.nlm.nih.gov/pubmed/35200537
http://dx.doi.org/10.3390/curroncol29020037
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