1亞東紀念醫院 外科部 泌尿外科
Sporadic Extraneural Hemangioblastoma Associated with Polycythemia
Hung-Hsiang Huang1, Shiu-Dong Chung1, Yi-Shiou Tseng1,2
Division of Urology1, Department of Surgery, Far Eastern Memorial Hospital, New Taipei City, Taiwan;
Graduate Institute of Medicine2, Yuan Ze University, Taoyuan City, Taiwan
Hemangioblastoma is a rare tumor with low malignant potential, characterized by proliferation of closely packed capillaries admixed with large neoplastic stromal cells. Hemangioblastoma commonly occurs in the central nervous system, mostly in the cerebellum, and less frequently in the brain stem, spinal cord, and supratentorium. 25% of hemangioblastoma associated with Von Hippel-Lindau disease (VHL), an autosomal dominant disorder caused by germline mutations of the VHL gene. Hemangioblastoma very rarely was noticed outside the central nervous system.
Here we present a case of a 19-year-old man, who was referred from the Division of Gastroenterology due to his abdominal computed tomography (CT) showing a 7.4 cm x 6 cm mass in the upper pole of the right kidney with a central stellate scar. His clinical condition included abdominal cramping pain and diarrhea for days. His right renal tumor was excised by open partial nephrecrtomy and was diagnosed with hemangioblastoma, which was characterized by positive staining of S100, alpha-inhibin, CD10, and PAX8, but negative staining of CD117, and CK7. In addition, polycythemia was also noticed in this patient. After searching literature, Hemangioblastoma followed by polycythemia is a result of secretion of erythropoietin from the tumor itself. This finding is reported mostly in cases of CNS hemangioblastoma. For polycythemia caused by the renal hemangioblastoma, it is only mentioned in a few cases.