Pediatric gynecologic malignancies are rare, present with diverse pathologic findings, and can be associated with genetic syndromes such as Peutz-Jeghers, Lynch, and Li-Fraumeni. DICER1 mutation is an emerging entity that has been demonstrated to cause a hereditary tumor predisposition syndrome. Previously, gynecologic manifestations of DICER1 syndrome have been described in single or small case reports with an array of pathologic findings. Here, we discuss pediatric and adolescent patients with gynecologic DICER1-associated tumors, outline the significance of DICER1, and suggest points of care where the syndrome may be diagnosed in the context of routine obstetric and gynecology practice. Patients presenting with a personal or family history suspicious for DICER1 syndrome should undergo both germline and somatic testing, as the presence of DICER1 mutations will have an impact on both treatment and surveillance strategies.

小儿妇科恶性肿瘤罕见，病理表现多样，可能与 Peutz-Jeghers、Lynch 和 Li-Fraumeni 等遗传综合征有关。DICER1 突变是一种新出现的实体，已被证明会导致遗传性肿瘤易感性综合征。以前，DICER1综合征的妇科表现曾被描述为具有一系列病理发现的单个或小病例。在这里，我们讨论患有妇科DICER1相关肿瘤的儿科和青少年患者，概述DICER1的重要性，并建议在常规妇产科实践中可以修改该综合征的护理点。有个人史或家族史的患者怀疑DICER1综合征应进行种系和体细胞检测，因为 DICER1 突变的存在将对治疗和监测策略产生影响。