卵巢高钙血症型小细胞癌（SCCOHT）：一篇综述及一例伴有双胚系SMARCA4和BRCA2突变的新病例
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
作者信息
Sanders Brooke E, Wolsky Rebecca, Doughty Elizabeth S, Wells Kristen L, Ghosh Debashis, Ku Lisa, Pressey Joseph G, Bitler Benjamin B, Brubaker Lindsay W
机构信息
Department of Obstetrics & Gynecology, Division of Gynecologic Oncology, The University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Department of Obstetrics & Gynecology, Department of Pathology, The University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
出版信息
Gynecol Oncol Rep. 2022 Oct 6;44:101077. doi: 10.1016/j.gore.2022.101077. eCollection 2022 Dec.
Small cell carcinoma of the ovary hypercalcemic type (SCCOHT) is a rare and aggressive disease. While classically linked to mutations in we describe a case in a patient with both and 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.
卵巢高钙血症型小细胞癌（SCCOHT）是一种罕见且侵袭性强的疾病。虽然传统上与[具体基因名称]突变有关，但我们描述了一例同时存在[具体基因名称1]和[具体基因名称2]种系突变的患者。我们描述了她的疾病表现、组织病理学以及辅助全身化疗、间隔热灌注腹腔化疗、高剂量化疗联合干细胞救援和聚ADP核糖聚合酶抑制剂（PARPi）维持治疗的情况。此外，我们还分享了对原始肿瘤进行的空间转录组学研究结果。
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