Journal
CURRENT ONCOLOGY
Volume 29, Issue 2, Pages 411-422Publisher
MDPI
DOI: 10.3390/curroncol29020037
Keywords
small cell carcinoma of the ovary; hypercalcemic type; ovarian cancer; SMARCB1 mutation
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Funding
- Sao Paulo Research Foundation (FAPESP) [2014/50943-1, 2018/06269-5]
- National Council for Scientific and Technological Development (CNPq) [465682/2014-6]
- Coordination for the Improvement of Higher Education Personnel (CAPES) [88887.136405/2017-00]
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We report a rare case of a young woman with SCCOHT carrying a SMARCB1 mutation, which had a highly aggressive biological behavior and poor prognosis. Despite receiving intensive chemotherapy and stem cell transplantation, the patient experienced disease progression and died within 11 months. We present a literature review discussing the findings in this case in comparison to expected molecular alterations and treatment options for SCCOHT.
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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