Ovarian steroid cell tumor associated with von Hippel-Lindau syndrome: a report of two cases and literature review.

Steroid cell tumor (SCT) is a rare sex cord-stromal tumor accounting for only 0.1% of ovarian tumors. Steroid cell tumor, not otherwise specified (SCT, NOS) is of uncertain lineage and is the most common among the three subtypes of SCT. Patients often present with endocrine abnormalities. Von Hippel-Lindau (VHL) syndrome is an autosomal dominant disorder resulting from inactivating gene deletions, frameshifts, and missense mutations of the VHL gene. VHL syndrome can involve multiple organs and clinically is subclassified into type 1 and type 2 based on the risk of pheochromocytoma (PCC). The association of VHL syndrome with genital tract tumors is rare, and here we report two cases of SCT, NOS in patients with VHL disease. The first case is a 19-year old female with VHL and prior resection of bilateral cerebellar hemangioblastomas. During the radiological surveillance, she was found to have multiple small enhancing foci in the cerebellar hemispheres and a stable small enhancing focus in the T6 cord with associated edema, likely reflecting a small hemangioblastoma. She had long history of irregular menses and ultrasound of pelvis found a large right ovarian mass. Cystectomy specimen showed a 6.4 cm well-circumscribed lesion with yellow cut surface. Histologic examination and immunohistochemical staining confirmed the diagnosis of SCT, NOS. The second patient is a 39-year-old female with VHL, previous surgery for retinal hemangioblastomatosis and cerebellar hemangioblastoma, history of abnormal uterine bleeding and elevated testosterone. CT of abdomen and pelvis revealed bilateral multiple cystic and solid renal lesions and a large left ovarian complex cyst. Bilateral partial nephrectomy showed multiple renal cysts and clear cell renal cell carcinomas (RCCs). Left salpingo-oophorectomy showed a 7 cm lesion with yellow-orange cut surface and features consistent with SCT, NOS. Review of the previously reported VHL SCT cases (not including the current two cases) indicated a probable link between VHL syndrome and SCT.