PMID- 34103053
OWN - NLM
STAT- MEDLINE
DCOM- 20211213
LR  - 20211214
IS  - 1746-1596 (Electronic)
IS  - 1746-1596 (Linking)
VI  - 16
IP  - 1
DP  - 2021 Jun 8
TI  - Detection of BCOR gene rearrangement in Ewing-like sarcoma: an important 
      diagnostic tool.
PG  - 50
LID - 10.1186/s13000-021-01114-2 [doi]
LID - 50
AB  - BACKGROUND: BCOR-CCNB3 sarcoma (BCS) is a group of undifferentiated small round 
      cell sarcomas harboring the BCOR gene rearrangement which shares morphology with 
      the Ewing sarcoma family as well as other malignant round blue cell tumors, thus 
      making them difficult to diagnose. The aim of this study was to explore the role 
      of molecular techniques in the diagnosis of BCS. METHODS: Twenty-three cases of 
      EWSR1 rearrangement-negative undifferentiated small round cell sarcomas 
      (Ewing-like sarcoma) were analyzed for the presence of BCOR gene rearrangement by 
      Fluorescence in situ hybridization (FISH) and Reverse Transcription -Polymerase 
      Chain Reaction (RT-PCR). The clinicopathological features of the positive cases 
      were also reviewed. Fifteen additional cases were used as negative controls. 
      RESULTS: Eight cases were found with BCOR gene rearrangement by FISH and 
      reappraised as BCS. The patients ranged in age from 8 to 20 years old, with a 
      male predominance (M:F = 6:2). All tumors were located in the lower extremities. 
      The tumor locations were more common in bone (n = 6) than deep soft tissue 
      (n = 2). Histologically, 7 of 8 tumors were predominately composed of spindle or 
      ovoid cells. The tumor cells were usually arranged in solid hypercellular sheets 
      without a distinct architectural pattern. IHC showed expression of TLE1 (100%), 
      CCNB3 (88%), BCOR (71%). RT-PCR for BCOR-CCNB3 fusion transcript was positive in 
      7 of 8 cases. Pre-operative chemotherapy resulted in eradication of tumors in 5 
      patients after a follow-up of 7 to 42 months. CONCLUSIONS: Efficient diagnosis of 
      BCOR rearranged sarcomas is achieved by the using a combination of FISH and 
      RT-PCR assays.
FAU - Li, Lan
AU  - Li L
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, People's Republic of China.
FAU - Zhang, Ming
AU  - Zhang M
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, People's Republic of China.
FAU - Chen, Shaoyu
AU  - Chen S
AD  - Guangzhou LBP Medicine Science & Technology Co., Ltd, Guangzhou, People's 
      Republic of China.
FAU - Sun, Xiaoqi
AU  - Sun X
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, People's Republic of China.
FAU - Xu, Hairong
AU  - Xu H
AD  - Department of Orthopedic Oncology Surgery, Beijing Jishuitan Hospital, The Fourth 
      Medical College of Peking University, Beijing, People's Republic of China.
FAU - Li, Lina
AU  - Li L
AD  - Guangzhou LBP Medicine Science & Technology Co., Ltd, Guangzhou, People's 
      Republic of China.
FAU - Zhang, Tingting
AU  - Zhang T
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, People's Republic of China.
FAU - Huang, Xiaoyuan
AU  - Huang X
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, People's Republic of China.
FAU - Ye, Hongtao
AU  - Ye H
AD  - Department of Histopathology, Royal National Orthopaedic Hospital, Stanmore, UK. 
      hongtao.ye@nhs.net.
AD  - Department of Pathology, Affiliated Hospital of Guilin Medical University, 
      Guilin, People's Republic of China. hongtao.ye@nhs.net.
FAU - Ding, Yi
AU  - Ding Y
AD  - Department of Pathology, Beijing Jishuitan Hospital, The Fourth Medical College 
      of Peking University, Beijing, People's Republic of China. jst_blk@126.com.
LA  - eng
GR  - Z171100001017134/The Capital Characteristic Project of Beijing Science and 
      Technology Project/
GR  - XKXX201811/The Beijing Jishuitan Hospital Nova Program/
PT  - Journal Article
DEP - 20210608
PL  - England
TA  - Diagn Pathol
JT  - Diagnostic pathology
JID - 101251558
RN  - 0 (BCOR protein, human)
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (CCNB3 protein, human)
RN  - 0 (Cyclin B)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - Adolescent
MH  - Biomarkers, Tumor/*genetics
MH  - Bone Neoplasms/*genetics/pathology/therapy
MH  - Child
MH  - Cyclin B/genetics
MH  - Female
MH  - Gene Fusion
MH  - *Gene Rearrangement
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Male
MH  - Predictive Value of Tests
MH  - Prognosis
MH  - Proto-Oncogene Proteins/*genetics
MH  - Repressor Proteins/*genetics
MH  - Reproducibility of Results
MH  - *Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Ewing/*genetics/pathology/therapy
MH  - Young Adult
PMC - PMC8185946
OTO - NOTNLM
OT  - BCOR
OT  - FISH
OT  - RT-PCR
OT  - Undifferentiated small round cell sarcoma
COIS- The authors have no conflicts of interest to declare.
EDAT- 2021/06/10 06:00
MHDA- 2021/12/15 06:00
PMCR- 2021/06/08
CRDT- 2021/06/09 05:40
PHST- 2021/03/23 00:00 [received]
PHST- 2021/06/01 00:00 [accepted]
PHST- 2021/06/09 05:40 [entrez]
PHST- 2021/06/10 06:00 [pubmed]
PHST- 2021/12/15 06:00 [medline]
PHST- 2021/06/08 00:00 [pmc-release]
AID - 10.1186/s13000-021-01114-2 [pii]
AID - 1114 [pii]
AID - 10.1186/s13000-021-01114-2 [doi]
PST - epublish
SO  - Diagn Pathol. 2021 Jun 8;16(1):50. doi: 10.1186/s13000-021-01114-2.