偶發性中樞神經外血管母細胞瘤併發紅血球增多症案例

黃泓翔¹、鍾旭東¹、曾一修^1,2

¹亞東紀念醫院 外科部 泌尿外科

²元智大學 醫學研究所

Sporadic Extraneural Hemangioblastoma Associated with Polycythemia

Hung-Hsiang Huang¹, Shiu-Dong Chung¹, Yi-Shiou Tseng^1,2

Division of Urology¹, Department of Surgery, Far Eastern Memorial Hospital, New Taipei City, Taiwan;

Graduate Institute of Medicine², Yuan Ze University, Taoyuan City, Taiwan

Introduction

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.

Case report

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.