Littrell Laurel A, Inwards Carrie Y, Hazard Florette K, Wenger Doris E
Department of Radiology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Skeletal Radiol. 2023 Mar;52(3):605-612. doi: 10.1007/s00256-022-04033-5. Epub 2022 Mar 16.
Prior case reports have described synchronous ovarian juvenile granulosa cell tumor (JGCT) and enchondromatosis in patients with Ollier disease and Maffucci syndrome. We present a case of a juvenile granulosa cell tumor with an IDH1 somatic mutation identified in the ovarian tissue in a 15-year-old female who presented with abnormal vaginal bleeding, several months of irregular menses, and a large multicystic adnexal mass. Multiple mixed lytic and sclerotic lesions were identified in the bones of the pelvis on imaging studies obtained during the work-up of her abdominal mass. Like previous reports in patients with undiagnosed enchondromatosis, these lesions were presumed to represent skeletal metastases; however, biopsy tissue revealed a hyaline cartilage neoplasm. Subspecialty review of the imaging findings revealed imaging features classic for Ollier disease involving the flat bones of the pelvis. It is important for radiologists to be familiar with the association between enchondromatosis and JGCT. When a female patient with enchondromatosis presents with a large, unilateral, mixed solid-cystic ovarian mass, the diagnosis of JGCT can be suggested. Alternatively, when a patient is diagnosed with JGCT, any skeletal lesions should be scrutinized for imaging features that suggest a hyaline cartilage neoplasm to avoid the misdiagnosis of skeletal metastases in a patient with previously undiagnosed Ollier disease or Maffucci syndrome. To our knowledge, this is the second reported confirmed case of an IDH1 somatic mutation identified in the ovarian tissue of a JGCT in a patient with Ollier disease.
先前的病例报告描述了患有Ollier病和Maffucci综合征的患者同时发生卵巢幼年型颗粒细胞瘤（JGCT）和内生软骨瘤病。我们报告一例15岁女性，因异常阴道出血、数月月经不规律以及附件区巨大多囊性肿物就诊，在其卵巢组织中发现了具有IDH1体细胞突变的幼年型颗粒细胞瘤。在对其腹部肿物进行检查的影像学研究中，发现骨盆骨骼有多处混合性溶骨性和硬化性病变。与先前关于未确诊内生软骨瘤病患者的报告一样，这些病变被推测为骨转移；然而，活检组织显示为透明软骨肿瘤。对影像学表现的专科评估显示，骨盆扁骨出现了符合Ollier病的典型影像学特征。放射科医生熟悉内生软骨瘤病与JGCT之间的关联很重要。当患有内生软骨瘤病的女性患者出现单侧巨大混合实性-囊性卵巢肿物时，可提示JGCT的诊断。反之，当患者被诊断为JGCT时，应仔细检查任何骨骼病变的影像学特征，以判断是否提示透明软骨肿瘤，从而避免对先前未确诊的Ollier病或Maffucci综合征患者误诊为骨转移。据我们所知，这是第二例报告确诊的、在患有Ollier病的JGCT患者卵巢组织中发现IDH1体细胞突变的病例。
