TY - JOUR
T1 - Small cell carcinoma of the ovary hypercalcemic type (SCCOHT)
T2 - A review and novel case with dual germline SMARCA4 and BRCA2 mutations
AU - Sanders, Brooke E.
AU - Wolsky, Rebecca
AU - Doughty, Elizabeth S.
AU - Wells, Kristen L.
AU - Ghosh, Debashis
AU - Ku, Lisa
AU - Pressey, Joseph G.
AU - Bitler, Benjamin B.
AU - Brubaker, Lindsay W.
N1 - Publisher Copyright:
© 2022
PY - 2022/12
Y1 - 2022/12
N2 - 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.
AB - 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.
KW - PARP inhibitor
KW - Small cell carcinoma of the ovary
KW - Transcriptomics
UR - http://www.scopus.com/inward/record.url?scp=85139284653&partnerID=8YFLogxK
U2 - 10.1016/j.gore.2022.101077
DO - 10.1016/j.gore.2022.101077
M3 - Article
AN - SCOPUS:85139284653
SN - 2352-5789
VL - 44
JO - Gynecologic Oncology Reports
JF - Gynecologic Oncology Reports
M1 - 101077
ER -