Sporadic hemangioblastoma of the kidney: a clinicopathologic study of three cases and a literature review

Abstract

Much attention has been paid to renal hemangioblastoma, but there are still challenges in its differential diagnosis. Three cases (2 men, 1 woman; age: 40–56 years) presented with renal tumors. The tumors were surrounded by a thick fibrous capsule, well-demarcated from the surrounding renal parenchyma, and composed of sheets or nests of polygonal to short spindle-shaped tumor cells with a rich capillary network. In cases 1 and 3, the large polygonal tumor cells contained abundant pale or eosinophilic cytoplasm, and some possessed intracytoplasmic lipid vacuoles. In case 2, tumor cells were characterized by a uniform size, mild, clear, or lightly stained cytoplasm, and typical "clear cell" appearance. Immunohistochemistry revealed that the polygonal stromal cells were strongly and diffusely positive for α-inhibin, neuron-specific enolase (NSE), S100 protein, and vimentin. Cluster of differentiation (CD)10 and paired box gene (PAX)8 were positive, while epithelial membrane antigen (EMA) and cytokeratin (CK) were focally positive in case 3. CD34 and CD31 outlined the contours and distribution of the vascular networks. Renal hemangioblastoma is rare and prone to misdiagnosis; more attention should be paid to the morphological features and reasonable application of immunohistochemistry in the diagnosis of hemangioblastoma.

Polycythemia Secondary to Renal Hemangioblastoma: A Case Report and Literature Review

“…The stromal cells in renal hemangioblastoma are immunopositive for PAX8, while those in cerebellar hemangioblastoma are not. 14 The endothelial cells in cerebellar hemangioblastoma typically express GLUT1, as CNS endothelial cells do; the endothelial cells in renal hemangioblastoma, on the other hand, do not express GLUT1, similar to normal peripheral endothelium. These differences in immunophenotypes support the theory that tumor cells of hemangioblastomas express site-specific antigens, possibly due to derivation from organ-specific pluripotent cells.…”

“…Approximately one-half of renal hemangioblastoma cases in the literature underwent radical nephrectomy, mainly under the clinical impression of RCC. 12,[14][15][16][17][18][19][20][21][22][23][24] Given that RCC is the most well-known renal tumor to induce erythrocytosis, the uncommon manifestation of polycythemia in renal hemangioblastoma can cause further diagnostic challenges. Histopathologically, renal hemangioblastoma is also reminiscent of clear cell RCC.…”

“…These differences in immunophenotypes support the theory that tumor cells of hemangioblastomas express site-specific antigens, possibly due to derivation from organ-specific pluripotent cells. 14 The primary differential diagnosis of renal hemangioblastoma is clear cell RCC. Due to the low occurrence rate and lack of specific clinical/radiological findings, renal hemangioblastoma is usually preoperatively diagnosed as RCC.…”

“…To date, <40 cases have been reported in the English literature. 12,14–24 In spite of bearing similar morphological features, renal hemangioblastoma differs from its cerebellar counterpart in several aspects. Unlike cerebellar hemangioblastomas, renal hemangioblastomas are not associated with VHL disease, and no VHL gene mutation, loss of heterozygosity of chromosome 3p, or chromosome 3p deletion has been detected in renal hemangioblastoma in various studies.…”

“…These differences in immunophenotypes support the theory that tumor cells of hemangioblastomas express site-specific antigens, possibly due to derivation from organ-specific pluripotent cells. 14…”