Bilateral lipid cell tumors in a woman with von hippel-lindau syndrome

Abstract

OBJECTIVE: Present the first case of bilateral lipid cell ovarian tumors in Von Hippel-Lindau (VHL) syndrome.DESIGN: Case report.MATERIALS AND METHODS: 28-year old obese African-American woman, with VHL syndrome and a 2 cm renal cell carcinoma was referred for evaluation of secondary amenorrhea, hirsutism, and bilateral complex adnexal masses seen on computed tomography scan. From age 18, she had hirsuitism and began shaving. Others diagnosed congenital adrenal hyperplasia (CAH) and gave her oral contraceptives which failed to treat her hirsutism. After stopping them, her menstrual cycles were first regular but then stopped a year ago. Pelvic examination revealed clitoromegaly and mobile, bilateral adnexal masses. On transvaginal ultrasound, a multilobed right adnexal mass with areas of necrosis measured 5.6x4.5 cm; a solid left ovarian mass measured 3x2.6 cm. She had elevated levels of serum total testosterone (189 ng/dl range: 20-76), free testosterone (52pg/ml range: 1-21), and 17-OH progesterone (382 ng/dl range: 30-290). Tumor markers were negative. ACTH stimulation test excluded CAH. Other than ovarian masses, metastatic work-up of renal cancer was negative.RESULTS: At exploratory laparotomy, frozen section could not exclude possible metastatic renal cell cancer. Bilateral salpingo-oophorectomy was performed to remove all potential metastatic renal cancer. Final pathology revealed bilateral lipid cell tumors that stained positive for inhibin and calretinin. Post-operatively, testosterone levels dropped, hirsuitism lessened and she lost 10 pounds.CONCLUSIONS: VHL is characterized by benign and malignant vascular tumors in multiple organs. While broad ligament and adnexal papillary cystadenomas have been reported in VHL women, lipid cell tumors have not. Lipid cell tumors are rare, usually unilateral, functioning ovarian neoplasms. On histologic examination, Leydig cells, luteinized ovarian stromal cells, or adrenal cortical cells result in steroid-production and are associated with a variety of clinical manifestations. In this case, considering metastatic renal disease in these ovarian masses was warranted because of bilaterality. Lipid cell tumors containing mainly adrenal cortical cells may be mistakenly diagnosed as adrenal or renal metastases. Because lipid cell tumors appear to be “great impersonators”, definitive diagnosis can only be made with the aid of special stains. OBJECTIVE: Present the first case of bilateral lipid cell ovarian tumors in Von Hippel-Lindau (VHL) syndrome. DESIGN: Case report. MATERIALS AND METHODS: 28-year old obese African-American woman, with VHL syndrome and a 2 cm renal cell carcinoma was referred for evaluation of secondary amenorrhea, hirsutism, and bilateral complex adnexal masses seen on computed tomography scan. From age 18, she had hirsuitism and began shaving. Others diagnosed congenital adrenal hyperplasia (CAH) and gave her oral contraceptives which failed to treat her hirsutism. After stopping them, her menstrual cycles were first regular but then stopped a year ago. Pelvic examination revealed clitoromegaly and mobile, bilateral adnexal masses. On transvaginal ultrasound, a multilobed right adnexal mass with areas of necrosis measured 5.6x4.5 cm; a solid left ovarian mass measured 3x2.6 cm. She had elevated levels of serum total testosterone (189 ng/dl range: 20-76), free testosterone (52pg/ml range: 1-21), and 17-OH progesterone (382 ng/dl range: 30-290). Tumor markers were negative. ACTH stimulation test excluded CAH. Other than ovarian masses, metastatic work-up of renal cancer was negative. RESULTS: At exploratory laparotomy, frozen section could not exclude possible metastatic renal cell cancer. Bilateral salpingo-oophorectomy was performed to remove all potential metastatic renal cancer. Final pathology revealed bilateral lipid cell tumors that stained positive for inhibin and calretinin. Post-operatively, testosterone levels dropped, hirsuitism lessened and she lost 10 pounds. CONCLUSIONS: VHL is characterized by benign and malignant vascular tumors in multiple organs. While broad ligament and adnexal papillary cystadenomas have been reported in VHL women, lipid cell tumors have not. Lipid cell tumors are rare, usually unilateral, functioning ovarian neoplasms. On histologic examination, Leydig cells, luteinized ovarian stromal cells, or adrenal cortical cells result in steroid-production and are associated with a variety of clinical manifestations. In this case, considering metastatic renal disease in these ovarian masses was warranted because of bilaterality. Lipid cell tumors containing mainly adrenal cortical cells may be mistakenly diagnosed as adrenal or renal metastases. Because lipid cell tumors appear to be “great impersonators”, definitive diagnosis can only be made with the aid of special stains.