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

Curr Oncol. 2022 Jan 18;29(2):411-422. doi: 10.3390/curroncol29020037.

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.

Keywords: SMARCB1 mutation; hypercalcemic type; ovarian cancer; small cell carcinoma of the ovary.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carcinoma, Small Cell* / drug therapy
  • Carcinoma, Small Cell* / therapy
  • DNA Helicases / genetics
  • Fatal Outcome
  • Female
  • Humans
  • Lung Neoplasms*
  • Mutation
  • Nuclear Proteins / genetics
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / pathology
  • Ovarian Neoplasms* / therapy
  • Ovary / pathology
  • Rhabdoid Tumor* / genetics
  • Rhabdoid Tumor* / pathology
  • Rhabdoid Tumor* / therapy
  • SMARCB1 Protein* / genetics
  • Transcription Factors / genetics

Substances

  • Nuclear Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors
  • SMARCA4 protein, human
  • DNA Helicases