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

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 ad...

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Detalles Bibliográficos
Autores principales: Sanders, Brooke E., Wolsky, Rebecca, Doughty, Elizabeth S., Wells, Kristen L., Ghosh, Debashis, Ku, Lisa, Pressey, Joseph G., Bitler, Benjamin B., Brubaker, Lindsay W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Reports and Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554814/
https://www.ncbi.nlm.nih.gov/pubmed/36249907
http://dx.doi.org/10.1016/j.gore.2022.101077
Descripción
Sumario: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.

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