Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Department of Surgery and Pediatric Oncology, Medical University of Lodz, Lodz, Poland.
Fam Cancer. 2021 Oct;20(4):355-362. doi: 10.1007/s10689-021-00258-w. Epub 2021 Apr 28.
Ovarian carcinoma is an extremely rare malignancy in children, often developing on the underlying inherited background. Female carriers of pathogenic germline mutations of SMARCA4 are at risk of an aggressive type of undifferentiated ovarian cancer called small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Regardless of age of the patient, stage of the disease, and oncological treatment, the prognosis for SCCOHT is poor. Therefore, early intervention with risk-reducing surgeries is recommended for these patients. In this study, we report genetic testing of a family with two children carrying pathogenic germline mutations of SMARCA4 and summarize the course of SCCOHT in all pediatric patients reported in the literature with constitutional defects identified within the SMARCA4 locus.
卵巢癌在儿童中极为罕见，通常在潜在的遗传背景下发展。携带 SMARCA4 种系致病性突变的女性有患一种称为小细胞癌卵巢，高钙血症型（SCCOHT）的侵袭性卵巢未分化癌的风险。无论患者的年龄、疾病分期和肿瘤治疗如何，SCCOHT 的预后均较差。因此，建议对这些患者进行早期风险降低手术干预。在本研究中，我们报告了一个携带 SMARCA4 种系致病性突变的家庭的基因检测，并总结了文献中报道的所有儿童患者的 SCCOHT 病程，这些患者在 SMARCA4 基因座中存在结构缺陷。
