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

Current Oncology

Louise De Brot¹  Giovana Tardin Torrezan¹  Dirce Maria Carraro¹  Lizieux Fernandes¹  Elizabeth Santana Dos Santos¹  Alexandre André Balieiro Anastácio da Costa¹  Maria Fernanda Evangelista Simões¹  Graziele Bovolim¹  Tullio Novaes Silva¹  Ademir Narcizo Oliveira Menezes¹  Glauco Baiocchi¹ 

[1] AC Camargo Cancer Center, São Paulo 01000-000, Brazil;

关键词: small cell carcinoma of the ovary;    hypercalcemic type;    ovarian cancer;    SMARCB1 mutation;   

DOI  :  10.3390/curroncol29020037

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown