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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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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. |
format | Online Article Text |
id | pubmed-8870484 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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