Wens Francis S P L, Hulsker Caroline C C, Fiocco Marta, Zsiros József, Smetsers Stephanie E, de Krijger Ronald R, van der Steeg Alida F W, Zweemer Ronald P, Baas Inge O, Roes Eva Maria, Looijenga Leendert H J, Gerestein Cornelis G, Mavinkurve-Groothuis Annelies M C
Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.
Mathematical Institute, Leiden University, 2311 EZ Leiden, The Netherlands.
Cancers (Basel). 2023 Jul 26;15(15):3794. doi: 10.3390/cancers15153794.
Small-cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is a rare aggressive ovarian malignancy mainly affecting children, adolescents, and young adults. Since the discovery of mutations in the SMARCA4 gene in 2014, SCCOHT has become the subject of extensive investigation. However, international uniform treatment guidelines for SCCOHT are lacking and the outcome remains poor. The aim of this systematic review is to generate an overview of all reported patients with SCCOHT from 1990 onwards, describing the clinical presentation, genetic characteristics, treatment, and outcome.
A systematic search was performed in the databases Embase, Medline, Web of Science, and Cochrane for studies that focus on SCCOHT. Patient characteristics and treatment data were extracted from the included studies. Survival was estimated using Kaplan-Meier's methodology. To assess the difference between survival, the log-rank test was used. To quantify the effect of the FIGO stage, the Cox proportional hazard regression model was estimated. The chi-squared test was used to study the association between the FIGO stage and the surgical procedures.
Sixty-seven studies describing a total of 306 patients were included. The median patient age was 25 years (range 1-60 years). The patients mostly presented with non-specific symptoms such as abdominal pain and sometimes showed hypercalcemia and elevated CA-125. A great diversity in the diagnostic work-up and therapeutic approaches was reported. The chemotherapy regimens were very diverse, all containing a platinum-based (cisplatin or carboplatin) backbone. Survival was strongly associated with the FIGO stage at diagnosis.
SCCOHT is a rare and aggressive ovarian cancer, with a poor prognosis, and information on adequate treatment for this cancer is lacking. The testing of mutations in SMARCA4 is crucial for an accurate diagnosis and may lead to new treatment options. Harmonization and international collaboration to obtain high-quality data on diagnostic investigations, treatment, and outcome are warranted to be able to develop international treatment guidelines to improve the survival chances of young women with SCCOHT.
高钙血症型卵巢小细胞癌（SCCOHT）是一种罕见的侵袭性卵巢恶性肿瘤，主要影响儿童、青少年和年轻成年人。自2014年发现SMARCA4基因突变以来，SCCOHT已成为广泛研究的对象。然而，目前缺乏针对SCCOHT的国际统一治疗指南，其治疗效果仍然较差。本系统评价的目的是对1990年以来所有报道的SCCOHT患者进行概述，描述其临床表现、基因特征、治疗方法及治疗效果。
在Embase、Medline、Web of Science和Cochrane数据库中进行系统检索，以查找关注SCCOHT的研究。从纳入的研究中提取患者特征和治疗数据。采用Kaplan-Meier方法估计生存率。使用对数秩检验评估生存率之间的差异。为了量化国际妇产科联盟（FIGO）分期的影响，估计了Cox比例风险回归模型。使用卡方检验研究FIGO分期与手术程序之间的关联。
纳入了67项研究，共描述了306例患者。患者的中位年龄为25岁（范围1 - 60岁）。患者大多表现为腹痛等非特异性症状，有时伴有高钙血症和CA-125升高。报道的诊断检查和治疗方法差异很大。化疗方案多种多样，均以铂类（顺铂或卡铂）为主。生存率与诊断时的FIGO分期密切相关。
SCCOHT是一种罕见的侵袭性卵巢癌，预后较差，且缺乏关于该癌症充分治疗的信息。检测SMARCA4基因突变对于准确诊断至关重要，可能会带来新的治疗选择。有必要进行协调和国际合作，以获取关于诊断检查、治疗和治疗效果的高质量数据，从而制定国际治疗指南，提高患有SCCOHT的年轻女性的生存几率。
