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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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
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author Sanders, Brooke E.
Wolsky, Rebecca
Doughty, Elizabeth S.
Wells, Kristen L.
Ghosh, Debashis
Ku, Lisa
Pressey, Joseph G.
Bitler, Benjamin B.
Brubaker, Lindsay W.
author_facet Sanders, Brooke E.
Wolsky, Rebecca
Doughty, Elizabeth S.
Wells, Kristen L.
Ghosh, Debashis
Ku, Lisa
Pressey, Joseph G.
Bitler, Benjamin B.
Brubaker, Lindsay W.
author_sort Sanders, Brooke E.
collection PubMed
description 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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spelling pubmed-95548142022-10-13 Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations Sanders, Brooke E. Wolsky, Rebecca Doughty, Elizabeth S. Wells, Kristen L. Ghosh, Debashis Ku, Lisa Pressey, Joseph G. Bitler, Benjamin B. Brubaker, Lindsay W. Gynecol Oncol Rep Case Reports and Case Series 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. Elsevier 2022-10-06 /pmc/articles/PMC9554814/ /pubmed/36249907 http://dx.doi.org/10.1016/j.gore.2022.101077 Text en Published by Elsevier Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Reports and Case Series
Sanders, Brooke E.
Wolsky, Rebecca
Doughty, Elizabeth S.
Wells, Kristen L.
Ghosh, Debashis
Ku, Lisa
Pressey, Joseph G.
Bitler, Benjamin B.
Brubaker, Lindsay W.
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations
title Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations
title_full Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations
title_fullStr Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations
title_full_unstemmed Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations
title_short Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations
title_sort small cell carcinoma of the ovary hypercalcemic type (sccoht): a review and novel case with dual germline smarca4 and brca2 mutations
topic Case Reports and Case Series
url 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
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