A Case Report of Osteosarcoma in Von Hippel-Lindau Disease

Introduction

Von Hippel-Lindau disease (VHL) is an autosomal dominant disorder caused by germline mutation of the VHL tumor suppressor gene, which is located on short arm of chromosome 3 (3p25–26) (Lonser RR et al. Lancet 2003; 361: 2059–2067.7, Signoretti S et al. The Molecular Basis of Cancer (4^th Edition); 2015). VHL disease estimated to affect 1 per 36,000–45,500 live births (Maher ER et al. J Med Genet 1991; 28: 443–447, Neumann HP et al. Lancet 1991; 337: 1052–1054, Maddock IR et al. J Med Genet. 1996 Feb; 33(2):120–127). Several benign and malignant manifestations in variable organs are associated with VHL disease including central nervous system and retinal hemangioblastomas, endolymphatic sac and visceral tumors. Visceral manifestations include renal and pancreatic cysts, renal carcinomas, adrenal phaeochromocytomas, neuroendocrine tumors, and epididymal and broad ligament cystadenomas (Lonser RR et al. Lancet 2003; 361: 2059–2067.7).

Primary osseous tumors are rarely encountered in VHL disease, as scarce case reports have described associated chondrosarcoma (Marinozzi A et al. J Exp Clin Cancer Res. 2007 Dec; 26(4): 599–601, Dreijerink KMA et al. Fam Cancer. 2020 Jan; 19(1): 41–45, Song MJ et al. Int J Clin Exp Pathol 2020; 13(2): 266–271). In the current article we describe the first-time reported case combining both Osteosarcoma and VHL disease.

Publication History

Article published online:
05 August 2021