Aoyagi Yoko, Kai Kentaro, Nishida Haruto, Aso Saki, Kobayashi Eiji
Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, JPN.
Diagnostic Pathology, Faculty of Medicine, Oita University, Yufu, JPN.
Cureus. 2024 May 21;16(5):e60802. doi: 10.7759/cureus.60802. eCollection 2024 May.
Small-cell carcinoma of the ovary, the hypercalcemic type (SCCOHT) is a rare, aggressive tumor that primarily affects young females. It is a monogenic disorder caused by germline and/or somatic mutations. Here, we report a case of SCCOHT harboring multiple previously unreported somatic mutations in (c.2866_2867delC>T; c.3543del). A 28-year-old breastfeeding Japanese female presented to a previous hospital with nausea and vomiting. She had no family history of relevant malignancies, including ovarian cancer. Based on an evaluation performed at another institution, she was referred to a gynecologist for suspected ovarian cancer. Imaging studies revealed a 16×15 cm heterogenous enhancing mass within the right ovary without lymph node or distant metastasis. She had mild ascites without peritoneal dissemination, but there was an elevation in the serum calcium level (15.1 mg/dL). The patient underwent cytoreductive surgery and was pathologically diagnosed with SCCOHT. Auxiliary immunohistochemical staining confirmed the loss of SMARCA4 protein expression. The patient was diagnosed with the International Federation of Gynecology and Obstetrics (FIGO) 2014 stage IA (pT1a pN0 M0). The serum calcium levels returned to normal post-surgery. Matched-pair analysis using tumor tissue and peripheral blood revealed multiple somatic mutations in , but no deleterious germline mutations were present. Microsatellite instability was not significant, and the patients had a heterozygous mutation of . She underwent six cycles of irinotecan hydrochloride plus cisplatin chemotherapy and achieved complete remission. The patient was finally examined and evaluated 45 months postoperatively; there was no evidence of the disease. Overall, the genetic findings will not aid in the SCCOHT diagnosis and relevant genetic counseling; however, they may have implications for the treatment of this disease in the future.
卵巢高钙血症型小细胞癌（SCCOHT）是一种罕见的侵袭性肿瘤，主要影响年轻女性。它是一种由种系和/或体细胞突变引起的单基因疾病。在此，我们报告一例SCCOHT病例，该病例在（c.2866_2867delC>T；c.3543del）中存在多个先前未报道的体细胞突变。一名28岁正在哺乳的日本女性因恶心和呕吐就诊于之前的医院。她没有包括卵巢癌在内的相关恶性肿瘤家族史。基于在另一家机构进行的评估，她因疑似卵巢癌被转诊至妇科医生处。影像学检查显示右卵巢内有一个16×15 cm的不均匀强化肿块，无淋巴结或远处转移。她有轻度腹水，无腹膜播散，但血清钙水平升高（15.1 mg/dL）。患者接受了肿瘤细胞减灭术，病理诊断为SCCOHT。辅助免疫组化染色证实SMARCA4蛋白表达缺失。患者被诊断为国际妇产科联盟（FIGO）2014年IA期（pT1a pN0 M0）。术后血清钙水平恢复正常。使用肿瘤组织和外周血进行的配对分析显示在中存在多个体细胞突变，但不存在有害的种系突变。微卫星不稳定性不显著，患者存在的杂合突变。她接受了六个周期的盐酸伊立替康加顺铂化疗并实现了完全缓解。患者最终在术后45个月接受检查和评估；没有疾病证据。总体而言，这些基因发现无助于SCCOHT的诊断和相关遗传咨询；然而，它们可能对该疾病未来的治疗有影响。
