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Table 2 Baseline clinical characteristics of discovery and validation cohorts of sporadic hemangioblastomas sequenced in this study

From: Sporadic hemangioblastomas are characterized by cryptic VHL inactivation

  Discovery (n = 10) Validation (n = 22)
Average Age (IQR) 52 (44–61) 54 (44–63)
Location   
  Cerebellum 8 15
  Spinal cord 2 7
Gender   
  Male 7 9
  Female 3 13
Prior VHL testing 1 5
Additional VHL-related lesions 0 0
  1. Interquartile range (IQR) for age of patients is represented in parentheses. Patients who had undergone prior clinical testing for germline VHL mutations are listed. No patients included in either cohort were noted to have canonical VHL-related lesions, including retinal hemangioblastomas, pancreatic lesions, pheochromocytomas, endolymphatic sac tumors, renal cysts or clear cell renal carcinoma.
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Acta Neuropathologica Communications

ISSN: 2051-5960

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