Int J Gynecol Pathol. 2020 Sep;39(5):473-477. doi: 10.1097/PGP.0000000000000628.
Von Hippel-Lindau (VHL) syndrome is an autosomal dominant genetic disorder caused by germline mutation of the VHL gene. It is associated with multiple neoplasias including hemangioblastoma, clear cell renal cell carcinoma, pheochromocytoma, and neuroendocrine tumors. Ovarian tumors are extremely rare in this syndrome. We describe the case of a 16-yr-old girl with a previous diagnosis of bilateral pheochromocytoma and several pancreatic neuroendocrine tumors in VHL syndrome context. Follow-up abdominal-pelvic magnetic resonance imaging revealed a 33 mm, well-circumscribed nodule in the right ovary. The patient was submitted to laparoscopic right salpingo-oophorectomy. Microscopically, the tumor consisted of polygonal cells with abundant microvacuolized clear cytoplasm arranged in a solid pattern. The neoplastic cells were immunohistochemically positive for inhibin and calretinin. A diagnosis of ovarian steroid cell tumor was made. Only 4 cases with this association have been reported to date. Of the previously described cases, only one concerns a child; the others were all adult women. All of them had a previous diagnosis of VHL syndrome and presented with secondary amenorrhea and/or hirsutism due to testosterone-secreting ovarian steroid cell tumors. Although extremely rare, the association between VHL syndrome and ovarian steroid cell tumor has been reported, and our case suggests there is a link between the 2 entities.
希佩尔-林道（VHL）综合征是一种常染色体显性遗传疾病，由 VHL 基因突变引起。它与多种肿瘤有关，包括血管母细胞瘤、透明细胞肾细胞癌、嗜铬细胞瘤和神经内分泌肿瘤。在这种综合征中，卵巢肿瘤极为罕见。我们描述了一例 16 岁女孩的病例，该女孩患有 VHL 综合征，曾被诊断为双侧嗜铬细胞瘤和几个胰腺神经内分泌肿瘤。随后的腹部盆腔磁共振成像显示右侧卵巢有一个 33 毫米、边界清楚的结节。患者接受了腹腔镜右侧输卵管卵巢切除术。显微镜下，肿瘤由多边形细胞组成，细胞富含微空泡化的透明细胞质，呈实性排列。肿瘤细胞免疫组化阳性表达抑制素和钙视网膜蛋白。诊断为卵巢类固醇细胞瘤。迄今为止，仅报告了 4 例这种关联。在以前描述的病例中，只有一例涉及儿童；其余均为成年女性。所有这些患者都曾被诊断为 VHL 综合征，因卵巢类固醇细胞瘤分泌的睾酮而出现继发性闭经和/或多毛症。尽管极为罕见，但已经报道了 VHL 综合征与卵巢类固醇细胞瘤之间的关联，我们的病例表明这两种疾病之间存在关联。
