
IndraLab
Statements
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"The presence of a FN1-ACVR2 fusion did not distinguish between benign and malignant disease, but we showed that copy number alteration of CDKN2A appears to be a valuable predictor of malignancy, similarly to conventional cartilaginous tumours ( xref , xref ) where copy number alterations of CDKN2A appear exclusively in chondrosarcomas."
sparser
"FN1-ACVR2A gene fusions have been recently identified in synovial chondromatosis. xref , xref It was first reported by Totoki et al. xref who investigated chondrosarcomas by whole genome sequencing and found a single case of synovial chondrosarcoma with an FN1 - ACVR2A gene fusion."
sparser
"K36M) ( xref ), mesenchymal chondrosarcoma is characterized by the fusion of HEY1-NCOA2 ( xref ), chondromyxoid fibroma is characterized by GRM1 rearrangements ( xref ), aneurysmal bone cyst is characterized by USP6 rearrangements ( xref ), osteoblastoma/osteoid osteoma is characterized by FOS/FOSB rearrangements ( xref ), and synovial chondromatosis is characterized by the fusion of FN1-ACVR2A and ACVR2A-FN1 ( xref )."
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"To analyse further and validate the findings, we performed FISH and demonstrated recurrent FN1-ACVR2A rearrangements in synovial chondromatosis (57%), and chondrosarcoma secondary to synovial chondromatosis (75%), showing that FN1 and/or AVCRA2 gene rearrangements do not distinguish between benign and malignant synovial chondromatosis."
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"The recent findings of FN1-ACVR2A and ACVR2A-FN1 in-frame fusions in a case of chondrosarcoma arising secondary to synovial chondromatosis and in one of seven cases of synovial chondromatosis ( xref ), indicate that these lesions represent neoplasms, and that they rarely transform into secondary chondrosarcoma ( xref – xref )."
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"Studies using cell proliferation assays have differed on the extent of DNA aneuploidy seen in synovial chondromatosis. xref , xref An FN1-ACVR2A in-frame gene fusion was initially identified in one case each of synovial osteochondromatosis and synovial chondrosarcoma, during a genomic investigation of various benign and malignant cartilaginous neoplasms. xref In a more recent study, Amary et al. further confirmed these findings using FISH analysis and whole-transcriptome RNA sequencing on a large number of cases, showing that 57% of synovial chondromatosis harbored FN1 and/or ACVR2A gene rearrangements. xref Of the 7 synovial chondrosarcomas included in their study, only 4 were informative by FISH, showing evidence of FN1 and/or the ACVR2A gene rearrangements in 3 cases. xref "