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Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement
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Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement
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Journal Article
Synovial chondromatosis and soft tissue chondroma: extraosseous cartilaginous tumor defined by FN1 gene rearrangement
2019
Overview
A fusion between fibronectin 1 (
FN1
) and activin receptor 2A (
ACVR2A
) has been reported previously in isolated cases of the synovial chondromatosis. To analyze 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
AVCR2A
gene rearrangements do not distinguish between benign and malignant synovial chondromatosis. RNA sequencing revealed the presence of the
FN1
–
ACVR2A
fusion in several cases that were negative by FISH suggesting that the true prevalence of this fusion is potentially higher than 57%. In soft tissue chondromas,
FN1
alterations were detected by FISH in 50% of cases but no
ACVR2A
alterations were identified. RNA sequencing identified a fusion involving
FN1
and fibroblast growth factor receptor 2 (
FGFR2
) in the case of soft tissue chondroma and FISH confirmed recurrent involvement of both
FGFR1
and
FGFR2
. These fusions were present in a subset of soft tissue chondromas characterized by grungy calcification, a feature reminiscent of phosphaturic mesenchymal tumor. However, unlike the latter, fibroblast growth factor 23 (
FGF23
) mRNA expression was not elevated in soft tissue chondromas harboring the
FN1
–
FGFR1
fusion. The mutual exclusivity of
ACVR2A
rearrangements observed in synovial chondromatosis and
FGFR1/2
in soft tissue chondromas suggests these represent separate entities. There have been no reports of malignant soft tissue chondromas, therefore differentiating these lesions will potentially alter clinical management by allowing soft tissue chondromas to be managed more conservatively.
Publisher
Nature Publishing Group US,Elsevier Limited
Subject
/ 14/63
/ 38/91
/ Activin
/ Activin Receptors, Type II - genetics
/ Adult
/ Aged
/ Child
/ Chondromatosis, Synovial - genetics
/ Female
/ Fibroblast growth factor receptor 1
/ Fibroblast growth factor receptor 2
/ Humans
/ Male
/ Medicine
/ Receptor, Fibroblast Growth Factor, Type 1 - genetics
/ Receptor, Fibroblast Growth Factor, Type 2 - genetics
