一名奥利埃病患者的罕见卵巢混合性脐带间质瘤：病例报告。

IF 1.7 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Journal of pediatric and adolescent gynecology Pub Date : 2024-08-02 DOI:10.1016/j.jpag.2024.07.009

Kyle M. Devins MD , Allan M. Goldstein MD , Amanda V. French MD

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引用次数: 0

摘要

这是一份关于一名患有奥利尔病和卵巢肿块的 10 岁儿童的病例报告。奥利尔病是一种罕见的疾病，其特征是多发性软骨瘤导致骨骼畸形，偶尔也与卵巢幼年颗粒细胞瘤有关。这名患者出现了性早熟症状，被发现患有卵巢肿瘤；然而，病理结果显示这是一种混合性脐基质瘤，含有幼年颗粒细胞瘤和Sertoli-Leydig细胞瘤的成分。肿瘤基因组检测发现了IDH1突变。这种类型的混合性脐带间质瘤也被称为 "雌母细胞瘤"，它与DICER1突变和DICER1肿瘤易感综合征有关，但从未与奥利尔病有关。我们的发现扩大了这种肿瘤类型的已知综合征关联范围，对肿瘤筛查具有重要意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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A Rare Ovarian Mixed Sex Cord Stromal Tumor in a Patient with Ollier Disease: A Case Report

This is a case report of a 10-year-old with Ollier disease and an ovarian mass. Ollier disease, a rare disorder characterized by multiple enchondromas resulting in bone deformities, has been occasionally associated with ovarian juvenile granulosa cell tumor. This patient developed signs of precocious puberty and was found to have an ovarian tumor; however, pathology revealed a mixed sex-cord stromal tumor with components of juvenile granulosa and Sertoli-Leydig cell tumor. Tumor genomic testing revealed an IDH1 mutation. Mixed sex-cord stromal tumors of this type, also called “gynandroblastomas,” have been associated with DICER1 mutations and DICER1 tumor predisposition syndrome but never with Ollier disease. Our findings expand the known spectrum of syndromic associations with this tumor type, with implications for tumor screening.

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来源期刊

Journal of pediatric and adolescent gynecology 医学-妇产科学

CiteScore

3.90

自引率

11.10%

发文量

251

审稿时长

57 days

期刊介绍： Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology. The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.