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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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Detalles Bibliográficos
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
Descripción
Sumario: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.