Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma.

ABSTRACT: Osteoblastoma is a locally aggressive tumour of bone. Until recently, its underlying genetic features were largely unknown. During the past two years, reports have demonstrated that acquired structural variations affect the transcription factor FOS in a high proportion of cases. These rearrangements modify the terminal exon of the gene and are believed to stabilise both the FOS transcript and the encoded protein, resulting in high expression levels. Here, we applied in-depth genetic analyses to a series of 29 osteoblastomas, including five classified as epithelioid osteoblastoma. We found recurrent homozygous deletions of the NF2 gene in three of the five epithelioid cases and in one conventional osteoblastoma. These events were mutually exclusive from FOS mutations. Structural variations

SUBMITTER: Saba KH 

PROVIDER: S-EPMC7578308 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature