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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| Authors: | Maria Fernanda Evangelista Simõ es,Alexandre André Balieiro Anastá cio da Costa,Tullio Novaes Silva,Lizieux Fernandes,Graziele Bovolim,Giovana Tardin Torrezan,Dirce Maria Carraro,Glauco Baiocchi,Ademir Narcizo Oliveira Menezes,Elizabeth Santana Dos Santos,Louise De Brot |
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| Affiliation: | AC Camargo Cancer Center, São Paulo 01000-000, Brazil; (A.A.B.A.d.C.); (T.N.S.); (L.F.); (G.B.); (G.T.T.); (D.M.C.); (G.B.); (A.N.O.M.); (E.S.D.S.); (L.D.B.) |
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| 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. |
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| Keywords: | small cell carcinoma of the ovary hypercalcemic type ovarian cancer SMARCB1 mutation |
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