Extraneuraxial Hemangioblastoma: Clinicopathologic Features and Review of the Literature

Abstract

Extraneuraxial hemangioblastoma occurs in nervous paraneuraxial structures, somatic tissues, and visceral organs, as part of von Hippel-Lindau disease (VHLD) or in sporadic cases. The VHL gene plausibly plays a key role in the initiation and tumorigenesis of both central nervous system and extraneuraxial hemangioblastoma, therefore, the underlying molecular and genetic mechanisms of the tumor growth are initially reviewed. The clinical criteria for the diagnosis of VHLD are summarized, with emphasis on the distinction of sporadic hemangioblastoma from the form fruste of VHLD (eg, hemangioblastoma-only VHLD). The world literature on the topic of extraneuraxial hemangioblastomas has been comprehensively reviewed with ∼200 cases reported to date: up to 140 paraneuraxial, mostly of proximal spinal nerve roots, and 65 peripheral, 15 of soft tissue, 6 peripheral nerve, 5 bone, and 39 of internal viscera, including 26 renal and 13 nonrenal. A handful of possible yet uncertain cases from older literature are not included in this review. The clinicopathologic features of extraneuraxial hemangioblastoma are selectively presented by anatomic site of origin, and the differential diagnosis is emphasized in these subsets. Reference is made also to 10 of the authors' personal cases of extraneuraxial hemangioblastomas, which include 4 paraneuraxial and 6 peripheral (2 soft tissue hemangioblastoma and 4 renal).

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

“…Recently, increased attention has been paid to extraneural 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.…”

“…These masses could easily be misdiagnosed as clear cell RCC or angiomyolipoma. Interestingly, Bisceglia et al 2 found that most cases reported in the literature were from the Far East, and the authors considered that there might be an unknown genetic feature common to members of a particular ethnic or racial group.…”

“… 1 Hemangioblastoma may also occur outside the CNS, such as in soft tissue, peripheral nerves, bone, skin, liver, lung, pancreas, kidney, retroperitoneum, bladder, adrenal gland, and gastrointestinal tract. 2 …”

“…1 Hemangioblastoma may also occur outside the CNS, such as in soft tissue, peripheral nerves, bone, skin, liver, lung, pancreas, kidney, retroperitoneum, bladder, adrenal gland, and gastrointestinal tract. 2 The differential diagnosis of sporadic renal hemangioblastoma is a major clinical challenge because this disease is similar to malignancies, such as renal cell carcinoma (RCC). In this case report, we present three cases of sporadic renal hemangioblastoma without clinical evidence of VHL disease.…”

Extradural thoracic nerve root hemangioblastoma approached by a combined posterior thoracic spine and video-assisted thoracoscopic surgery: A case report

“…Hemangioblastomas are benign tumors that are either sporadic or associated with Von Hippel-Lindau disease (VHLD). [3] e most hemangioblastomas occur in the cerebellum or the medulla oblongata with only a minority occurring within the spinal cord (i.e., 7-10% intramedullary). [4] Purely extradural hemangioblastomas are extremely rare.…”