Abstract:
:A diagnosis of clear cell chondrosarcoma of the ulna was made in a patient with Von Hippel-Lindau disease (VHL). After surgery, genetic analysis of the tumor tissue showed loss of heterozygosity at the VHL gene locus. Immunohistochemical analysis confirmed loss of expression of the VHL protein in the tumor cells. In addition, abundant Cyclin D1 expression in the tumor was observed. Chondrosarcoma has been described before in a VHL patient and VHL protein expression has been correlated to tumor grade in a series of sporadic chondrosarcomas. In this report, we show that clear cell chondrosarcoma may be a rare but canonical VHL manifestation through a cell-autonomous mechanism involving somatic loss-of-heterozygosity of the VHL tumor suppressor gene. We discuss the relevance of this observation with regard to the pathogenesis of clear cell chondrosarcoma in the context of VHL.
journal_name
Fam Cancerjournal_title
Familial cancerauthors
Dreijerink KMA,van Leeuwaarde RS,Hackeng WM,Giles RH,de Leng WWJ,Jutte PC,Suurmeijer AJH,van Nesselrooij BPM,Brosens LAAdoi
10.1007/s10689-019-00149-1subject
Has Abstractpub_date
2020-01-01 00:00:00pages
41-45issue
1eissn
1389-9600issn
1573-7292pii
10.1007/s10689-019-00149-1journal_volume
19pub_type
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