Zhang Jin,Wan Naijun,Ma Lishuang,et al.Ovarian juvenile granulosa cell tumors with Ollier’s disease in children: A Case report and literature review[J].Journal of Clinical Pediatric Surgery,2023,22(06):576-581.[doi:10.3760/cma.j.cn101785-202112038-015]
儿童卵巢幼年型颗粒细胞瘤合并多发内生软骨瘤1例并文献综述
- Title:
- Ovarian juvenile granulosa cell tumors with Ollier’s disease in children: A Case report and literature review
- Keywords:
- Ovary; Granular Cell Tumor; Enchondromatosis; Child
- 摘要:
- 目的 探讨儿童卵巢幼年型颗粒细胞瘤合并多发内生软骨瘤的临床特征、病理特点、发病机制及诊治策略。方法 回顾性分析2020年9月北京积水潭医院收治的1例卵巢幼年型颗粒细胞瘤合并多发内生软骨瘤患儿临床资料，并检索1977-2021年PubMed和万方数据库中卵巢颗粒细胞瘤合并多发内生软骨瘤的相关文献；文献报道病例仅10例，均为国外文献，结合本例共11例，收集11例患者发病形式、临床表现、治疗方案等数据进行分析。结果 本院1例为女性，就诊时年龄4岁6个月，临床表现为多发骨骼畸形、双侧乳房增大伴色素沉着，伴外阴分泌物。盆腔超声及腹部CT提示右侧卵巢肿物。行右股骨远端病灶刮除+人工骨植入术、右侧卵巢肿物及附件切除术。骨骼肿物组织病理提示为内生软骨瘤，卵巢肿物组织病理提示为卵巢幼年型颗粒细胞瘤。卵巢幼年型颗粒细胞瘤及内生软骨瘤组织样本中均存在IDH1基因突变，c.394C>T chr2-209113113 p.R132C。术后1年随访多发内生软骨瘤无复发，卵巢幼年型颗粒细胞瘤术后3个月随访见双侧乳房逐渐回缩，盆腔超声提示无复发。文献报道的10例卵巢颗粒细胞瘤合并多发内生软骨瘤患者年龄6个月至36岁，多发内生软骨瘤主要表现为骨骼畸形，卵巢颗粒细胞瘤主要表现为外周性性早熟、月经异常、腹胀、腹部肿物。本院及文献报道共11例患者中，对于内生软骨瘤，9例予手术切除，1例保守治疗，1例右腿膝盖以下肢体及右中指截骨。对于卵巢颗粒细胞瘤，9例予切除病变侧卵巢及输卵管，2例手术切除肿瘤后予化疗。除2例发生软骨肉瘤恶变外，其余9例均为良性病变，所有患儿预后良好。结论 卵巢幼年型颗粒细胞瘤合并多发内生软骨瘤临床罕见，发病可能与IDH1基因突变有关；治疗以手术切除为主；术后定期随访对提高患儿生存率至关重要。
- Abstract:
- Objective To explore the clinical manifestations, treatments, pathological features and pathogenesis of ovarian juvenile granulosa cell tumors (JGCT) with Ollier’s disease (OD) in children.Methods From October 2019 to October 2020, clinical data were retrospectively reviewed for one case of ovarian JGCT with OD.And the relevant literature reports were retrieved through the databases of PubMed and Wanfang.Results One 4-year-old girl showed multiple skeletal deformities, bilateral breast development with chromatosis and vulvar secretion.Radiography of extremities hinted at enchondromatosis.Pelvic ultrasound and abdominal computed tomography (CT) revealed right ovarian solid mass.Wide resection of soft tissue tumor was performed in distal right femur along with artificial bone substitution and right salpingooophorectomy.Pathologic examination of bone mass confirmed enchondromatosis and right ovarian solid mass was JGCT.A c.394C>T chr2-209113113 p.R132C mutation of IDH1 gene was detected in both ovarian JGCT and enchondromatosis.During a follow-up period of 1 year, there was no sign of recurrent enchondromatosis.There was no evidence of recurrence of ovarian JGCT over 3 months.A total of 11 cases of JGCT with OD were reported.The onset age ranged 0.5 to 36 years.The major manifestations of OD are skeletal deformities and JGCT had peripheral precocious puberty, abnormal menstruation, abdominal distension and abdominal masses.Surgery was a mainstay for two diseases.The overall prognosis was decent.Conclusion Ovarian JGCT with OD is rare and it may be caused by IDH1 gene mutation.Surgery is a first option.Regular postoperative follow-ups are essential.
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备注/Memo
收稿日期:2021-12-23。
基金项目:吴阶平医学基金会项目（320.6750.2020—06—86）
通讯作者:万乃君,Email:wann6971@163.com