Clinicopathological and Genetic Study of an Atypical Renal Hemangioblastoma△

Abstract

EMANGIOBLASTOMA (HB), a kind of benign tumor with uncertain histogenesis, is characterized by the presence of stromal cells (SCs) and a rich vascular component. 1 It occurs sporadically, except for about 25% of the cases associated with von Hippel-Lindau (VHL) disease. HB typically occurs in the cerebellum, but it has been reported that HB occasionally occurs in extraneural tissues, such as kidney, 2 adrenal, 3 gastrointestinal tract, 4 soft tissue 5 , and so on. We reported an atypical case involving the kidney, which might be misdiagnosed for other renal tumors, especially clear cell renal cell carcinoma (RCC). We also reviewed previously published cases and literature, and made necessary molecular genetic study, in order to investigate its clinicopatholoical features and differential diagnosis, etc.

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

“…Macroscopically, most tumors appear as well-defined masses surrounded by a thick fibrous capsule; only two cases presented with areas of poorly marginated growth or with the tumor breaking through the fibrous capsule. 6 , 11 In contrast to CNS hemangioblastoma, renal tumors generally presented as a solid mass, occasionally with small focal cystic changes. 7 , 15 The cut surface often appeared grayish-white, grayish-yellow, grayish-brown, or reddish-brown to grayish-yellow in color, and focal hemorrhage and necrosis were observed incidentally.…”

“…RCC markers (i.e., PAX8, PAX2, CAIX, and CD10) were diffusely expressed, or at least focally expressed, in renal hemangioblastoms. 6 , 11 – 13 , 16 , 17 Regarding the abnormal immunohistochemical expression in renal hemangioblastomas, several authors speculated that the possible explanation was that these tumors were derived from pluripotent mesenchymal cells and acquired site-specific markers of their parental organs during tumorigenesis. 12 , 13 , 15 Additionally, AE1/AE3 and EMA were also locally expressed in renal hemangioblastomas.…”

“…2,4,5 To our knowledge, there have been 24 cases of sporadic renal hemangioblastomas reported in the English literature. [4][5][6][7][8][9][10][11][12][13][14][15][16][17] The clinical characteristics of previously reported cases, with those of the three cases in the current study, are summarized in Table 3. Twenty-one of 24 cases in the literature as well as our 3 cases had complete clinical data.…”

Sporadic Hemangioblastoma of the Kidney: A clinicopathologic study of 3 cases and review of the literature

“…In recent years, raising attention has been paid on extraneural hemangioblastomas (2-4). To our knowledge, there have been 24 cases of sporadic renal hemangioblastomas in English literatures (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16). Their clinical characteristics, along with three cases in current study, were summarized in Table 2.…”

“…Interestingly, Michele et al found most of cases reported in the literature were from the Far East, and considered that there might be an unknown genetic feature common to members of a particular ethnic or racial group (2). Macroscopically, most tumors appear as well-de ned masses surrounded by a thick brous capsule, only 2 cases presented areas of poorly marginated growth or the tumor broke through the brous capsule (5,10). In contrast to CNS hemangioblastoma, renal tumors generally presented as a solid mass, occasionally with small focal cystic changes (6,14).…”