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

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Simoes, Maria Fernanda Evangelista ; da Costa, Alexandre Andre Balieiro Anastacio ; 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

• Document type: Journal article
• Source: CURRENT ONCOLOGY; v. 29, n. 2, p. 12-pg., 2022-02-01.

Abstract

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. (AU)

• FAPESP's process: 14/50943-1 - INCT 2014: on Oncogenomics and Therapeutic Inovations
• Grantee: Dirce Maria Carraro
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 18/06269-5 - Combining genomic approaches to determine the genetics causes of rare cancers in children, adolescents and young adults
• Grantee: Giovana Tardin Torrezan
• Support Opportunities: Regular Research Grants