Ovarian Steroid Cell Tumor in an Adolescent With Von Hippel-Lindau Syndrome: A Case Report and Review of the Literature

Int J Gynecol Pathol. 2020 Sep;39(5):473-477. doi: 10.1097/PGP.0000000000000628.

Abstract

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Amenorrhea / complications
  • Female
  • Germ-Line Mutation
  • Hirsutism / complications
  • Humans
  • Magnetic Resonance Imaging
  • Neuroendocrine Tumors / complications
  • Neuroendocrine Tumors / diagnostic imaging*
  • Neuroendocrine Tumors / pathology
  • Ovarian Neoplasms / complications
  • Ovarian Neoplasms / diagnostic imaging*
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / pathology
  • Pheochromocytoma / complications
  • Pheochromocytoma / diagnostic imaging*
  • Pheochromocytoma / pathology
  • Sex Cord-Gonadal Stromal Tumors / complications
  • Sex Cord-Gonadal Stromal Tumors / diagnostic imaging*
  • Sex Cord-Gonadal Stromal Tumors / genetics
  • Sex Cord-Gonadal Stromal Tumors / pathology
  • von Hippel-Lindau Disease / complications
  • von Hippel-Lindau Disease / diagnostic imaging*
  • von Hippel-Lindau Disease / genetics
  • von Hippel-Lindau Disease / pathology