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): A review and novel case with dual germline SMARCA4 and BRCA2 mutations.
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DOI：
10.1016/j.gore.2022.101077
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发表时间：
2022-12
影响因子：
1.2
通讯作者：
Brubaker, Lindsay W.
中科院分区：
文献类型：
--
作者：
Sanders, Brooke E.;Wolsky, Rebecca;Doughty, Elizabeth S.;Wells, Kristen L.;Ghosh, Debashis;Ku, Lisa;Pressey, Joseph G.;Bitler, Benjamin B.;Brubaker, Lindsay W.
卵巢小细胞癌是一种罕见的侵袭性疾病。持久的结果已显示与使用多化疗方案和腹腔内加热化疗。空间转录组学提供了一种评估肿瘤微环境的新方法。卵巢高钙血症型小细胞癌（scoht）是一种罕见的侵袭性疾病。虽然传统上与SMARCA4突变有关，但我们描述了一例同时患有SMARCA4和BRCA2种系突变的患者。我们描述了她的疾病表现、组织病理学和辅助全身化疗、间歇温热腹腔化疗、大剂量化疗伴干细胞拯救和维持多adp核糖聚合酶抑制剂（PARPi）的治疗。此外，我们还共享了原始肿瘤的空间转录组学。
Small cell carcinoma of the ovary is a rare and aggressive disease. Durable outcomes have been shown with the use of a multi-chemotherapy regimen and heated intraperitoneal chemotherapy. Spatial transcriptomics presents a novel means to evaluate the tumor microenvironment. 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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影响因子：
25
作者：
Maynard KR;Collado-Torres L;Weber LM;Uytingco C;Barry BK;Williams SR;Catallini JL 2nd;Tran MN;Besich Z;Tippani M;Chew J;Yin Y;Kleinman JE;Hyde TM;Rao N;Hicks SC;Martinowich K;Jaffe AE
通讯作者：
Jaffe AE
DOI：
10.1111/igc.0b013e3181a1a116
发表时间：
2009-04-01
影响因子：
4.8
作者：
Dykgraaf, Ramon H. M.;de Jong, Diederick;van der Burg, Maria E. L.
通讯作者：
van der Burg, Maria E. L.
影响因子：
4.7
作者：
Witkowski, Leora;Goudie, Catherine;Foulkes, William D.
通讯作者：
Foulkes, William D.
影响因子：
5.6
作者：
YOUNG, RH;OLIVA, E;SCULLY, RE
通讯作者：
SCULLY, RE
影响因子：
4.7
作者：
Callegaro-Filho D;Gershenson DM;Nick AM;Munsell MF;Ramirez PT;Eifel PJ;Euscher ED;Marques RM;Nicolau SM;Schmeler KM
通讯作者：
Schmeler KM