PMID- 31589790
OWN - NLM
STAT- MEDLINE
DCOM- 20201005
LR  - 20210302
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 59
IP  - 3
DP  - 2020 Mar
TI  - A molecular study of synovial chondromatosis.
PG  - 144-151
LID - 10.1002/gcc.22812 [doi]
AB  - Synovial chondromatosis (SC) is a rare benign cartilaginous neoplasm in which 
      recurrent fibronectin 1 (FN1) and activin receptor 2A (ACVR2A) gene 
      rearrangements have been recently reported. Triggered by a case of malignant 
      transformation in SC (synovial chondrosarcoma) showing a novel KMT2A-BCOR gene 
      fusion by targeted RNA sequencing, we sought to evaluate the molecular 
      abnormalities in a cohort of 27 SC cases using a combined methodology of 
      fluorescence in situ hybridization (FISH) and/or targeted RNA sequencing. Results 
      showed that FN1 and /or ACVR2A gene rearrangements were noted in 18 cases (67%), 
      with an FN1-ACVR2A fusion being confirmed in 15 (56%) cases. Two cases showed 
      only FN1 gene rearrangement, without other abnormalities. A novel FN1-NFATc2 gene 
      fusion was noted in one case by RNA sequencing. The remaining nine cases showed 
      no abnormalities in FN1 and ACVR2A genes. No additional cases showed BCOR gene 
      alterations. In conclusion, this study confirms that FN1-ACVR2A fusion is the 
      leading pathogenetic event in SC, at even higher frequency than previously 
      reported. FISH methodology emerges as an appropriate tool in the identification 
      of FN1 and ACVR2A gene abnormalities, which can be used in challenging cases. 
      Further studies are needed to determine the recurrent potential of BCOR 
      abnormalities in this disease.
CI  - (c) 2019 Wiley Periodicals, Inc.
FAU - Agaram, Narasimhan P
AU  - Agaram NP
AUID- ORCID: 0000-0002-6991-2310
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Zhang, Lei
AU  - Zhang L
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Dickson, Brendan C
AU  - Dickson BC
AUID- ORCID: 0000-0003-2269-6216
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, 
      Ontario, Canada.
FAU - Swanson, David
AU  - Swanson D
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, 
      Ontario, Canada.
FAU - Sung, Yun-Shao
AU  - Sung YS
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Panicek, David M
AU  - Panicek DM
AD  - Department of Radiology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Hameed, Meera
AU  - Hameed M
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Healey, John H
AU  - Healey JH
AD  - Orthopaedic Service, Department of Surgery, Memorial Sloan Kettering Cancer 
      Center, New York, New York.
FAU - Antonescu, Cristina R
AU  - Antonescu CR
AUID- ORCID: 0000-0002-9717-8205
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
LA  - eng
GR  - P30-CA008748/CA/NCI NIH HHS/United States
GR  - P30 CA008748/CA/NCI NIH HHS/United States
GR  - P50 CA217694/CA/NCI NIH HHS/United States
GR  - P50 CA140146-01/CA/NCI NIH HHS/United States
GR  - P50 CA140146/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20191018
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (BCOR protein, human)
RN  - 0 (FN1 protein, human)
RN  - 0 (Fibronectins)
RN  - 0 (KMT2A protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Repressor Proteins)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
RN  - EC 2.1.1.43 (Histone-Lysine N-Methyltransferase)
RN  - EC 2.7.11.30 (Activin Receptors, Type II)
RN  - EC 2.7.11.30 (activin receptor type II-A)
SB  - IM
MH  - Activin Receptors, Type II/genetics/metabolism
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Biopsy
MH  - Chondromatosis, Synovial/*diagnosis/*etiology/surgery
MH  - Chondrosarcoma/diagnosis/etiology/metabolism/surgery
MH  - *Disease Susceptibility
MH  - Female
MH  - Fibronectins/genetics/metabolism
MH  - Gene Fusion
MH  - Genetic Predisposition to Disease
MH  - Histone-Lysine N-Methyltransferase/genetics/metabolism
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Myeloid-Lymphoid Leukemia Protein/genetics/metabolism
MH  - Oncogene Proteins, Fusion/genetics/metabolism
MH  - Proto-Oncogene Proteins/genetics/metabolism
MH  - Radiography
MH  - Repressor Proteins/genetics/metabolism
MH  - Young Adult
PMC - PMC7147082
MID - NIHMS1564831
OTO - NOTNLM
OT  - ACVR2A
OT  - FN1
OT  - BCOR
OT  - KMT2A
OT  - synovial chondromatosis
COIS- Conflicts of interest: none
EDAT- 2019/10/08 06:00
MHDA- 2020/10/06 06:00
PMCR- 2021/03/01
CRDT- 2019/10/08 06:00
PHST- 2019/09/12 00:00 [received]
PHST- 2019/09/25 00:00 [revised]
PHST- 2019/09/26 00:00 [accepted]
PHST- 2019/10/08 06:00 [pubmed]
PHST- 2020/10/06 06:00 [medline]
PHST- 2019/10/08 06:00 [entrez]
PHST- 2021/03/01 00:00 [pmc-release]
AID - 10.1002/gcc.22812 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2020 Mar;59(3):144-151. doi: 10.1002/gcc.22812. Epub 
      2019 Oct 18.