Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations

Brooke E Sanders; Rebecca Wolsky; Elizabeth S Doughty; Kristen L Wells; Debashis Ghosh; Lisa Ku; Joseph G Pressey; Benjamin B Bitler; Lindsay W Brubaker

doi:10.1016/j.gore.2022.101077

Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations

Gynecol Oncol Rep. 2022 Oct 6:44:101077. doi: 10.1016/j.gore.2022.101077. eCollection 2022 Dec.

Authors

Brooke E Sanders¹, Rebecca Wolsky², Elizabeth S Doughty², Kristen L Wells³, Debashis Ghosh⁴, Lisa Ku⁵, Joseph G Pressey⁶, Benjamin B Bitler⁷, Lindsay W Brubaker¹

Affiliations

¹ Department of Obstetrics & Gynecology, Division of Gynecologic Oncology, The University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
² Department of Obstetrics & Gynecology, Department of Pathology, The University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
³ Barbara Davis Center for Diabetes and RNA Bioscience Initiative, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
⁴ Department of Biostatistics and Informatics, Colorado School of Public Health, Aurora, CO 80045, USA.
⁵ Division of Oncology, Department of Medicine, The University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
⁶ Division of Oncology, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.
⁷ Department of Obstetrics & Gynecology, Division of Reproductive Sciences, The University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.

Abstract

Small cell carcinoma of the ovary hypercalcemic type (SCCOHT) is a rare and aggressive disease. While classically linked to mutations in SMARCA4, we describe a case in a patient with both SMARCA4 and BRCA2 germline mutations. We describe her disease presentation, histopathology and treatment with adjuvant systemic chemotherapy, interval hyperthermic intraperitoneal chemotherapy, high dose chemotherapy with stem cell rescue, and maintenance with a poly-ADP-ribose polymerase inhibitor (PARPi). Additionally, we share spatial transcriptomics completed on original tumor.

Keywords: PARP inhibitor; Small cell carcinoma of the ovary; Transcriptomics.

Published by Elsevier Inc.

Publication types

Case Reports

Grants and funding

R37 CA261987/CA/NCI NIH HHS/United States