Current Oncology (Jan 2022)

Case Report of Small Cell Carcinoma of the Ovary, Hypercalcemic Type (Ovarian Rhabdoid Tumor) with <i>SMARCB1</i> Mutation: A Literature Review of a Rare and Aggressive Condition

  • Maria Fernanda Evangelista Simões,
  • Alexandre André Balieiro Anastácio 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

DOI
https://doi.org/10.3390/curroncol29020037
Journal volume & issue
Vol. 29, no. 2
pp. 411 – 422

Abstract

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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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