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).

Department of Anatomic Pathology School of Biomedical Sciences Etromapmacs Pole Lesina

Department of Hemathology Oncology and Clinical Pathology S Orsola Polyclinic University of Bologna Bologna Italy

Department of Pathology Charles University Medical Faculty Hospital Plzen Czech Republic

Department of Pathology Children's Hospitals and Clinics of Minnesota Minneapolis MN

Department of Pathology Institute of Oncology Ljubljana Slovenia

Department of Pathology The Barzilai Medical Center Ashkelon Israel

Institute of Pathology Medical Faculty University of Ljubljana Ljubljana Slovenja

Lab Bacchi Botucatu SP Brazil

Laboratory of Oncology IRCCS Casa Sollievo della Sofferenza Hospital San Giovanni Rotondo

National Academic Pathology McLean VA

National Institutes of Health Bethesda MD

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