Department of Obstetrics & Gynecology, University of Utah, Salt Lake City, Utah; Division of Pediatric Gynecology, Intermountain Primary Children's Hospital, Salt Lake City, Utah.
Division of Pediatric Gynecology, Department of Obstetrics and Gynecology, Tufts Children's Hospital and Tufts Medical Center, Boston, Massachusetts.
J Pediatr Adolesc Gynecol. 2021 Dec;34(6):780-782. doi: 10.1016/j.jpag.2021.07.007. Epub 2021 Jul 18.
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.
儿科妇科恶性肿瘤较为罕见，表现出多种病理表现，并可能与遗传综合征相关，如 Peutz-Jeghers、Lynch 和 Li-Fraumeni。DICER1 突变是一种新出现的实体，已被证明可导致遗传性肿瘤易感性综合征。以前，DICER1 综合征的妇科表现已在单一或少数病例报告中描述，存在多种病理表现。在这里，我们讨论了患有妇科 DICER1 相关肿瘤的儿科和青少年患者，概述了 DICER1 的意义，并提出了在常规产科和妇科实践中可能诊断该综合征的护理要点。出现疑似 DICER1 综合征的个人或家族病史的患者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。
