PMID- 32798385
OWN - NLM
STAT- MEDLINE
DCOM- 20200826
LR  - 20200826
IS  - 1009-2137 (Print)
IS  - 1009-2137 (Linking)
VI  - 28
IP  - 4
DP  - 2020 Aug
TI  - [Detection of BCR/ABL Fusion Gene and ASS1 Gene Deletion by Using Tricolor 
      Dual-fusion Probe].
PG  - 1115-1122
LID - 10.19746/j.cnki.issn.1009-2137.2020.04.006 [doi]
AB  - OBJECTIVE: To analyze the significance of various abnormal signal patterns 
      appreared in CML and B-ALL patients by using BCR/ABL/ASS1 tricolor dual-fusion 
      probe, and to explore its application value in detecting BCR/ABL fusion gene and 
      ASS1 gene deletion. METHODS: 50 newly diagnosed CML patients and 50 newly 
      diagnosed B-ALL patients were detected by fluorescence in situ hybridization 
      (FISH) with BCR/ABL/ASS1 tricolor dual-fusion probe. Meanwhile, karyotype 
      analysis was performed on all the patients using the 24 hours short-term culture 
      and R-banding. RESULTS: Among the 50 CML patients, Ph(+) was found in 49 cases, 5 
      normal interphase karyotype was observed in 1 case. FISH detection showed that 
      BCR/ABL fusion gene existed in all patients (100%), while the positive signal 
      pathway showed that 1R1G2B2F was observed in 39 cases (78%), 2R1G2B1F in 2 cases 
      (4%) and 1R1G2B1F in 6 cases (12%), simultaneous existence of 1R1G1B1F and 
      1R1G2B3F in 1 case (2%), 2R1G1B1F in 1 case (2%) 1R1G3B3F in 1 case (2%). FISH 
      detection also showed that the karyotype of 6 case at ASS1 gene deletion 
      (1R1G1B1F) all were simple t (9; 22) translocation, and other abnormalities not 
      were observed. Among 50 cases of B-ALL, Ph(+) was found in 13 cases, the 
      numerical aberration and structural aberration of non t (9; 22) in 16 cases, 
      normal karyotype in 20 cases, absence of mitotic phase in 1 case. FISH detection 
      showed that 16 cases (32%) had BCR/ABL fusion gene including 13 cases (26%) of 
      1R1G2B2F, 1 case (2%) of stimultaneous exitance of 1R1G2B2F and 1R1G3B3F 1 case 
      (2%) of 2R1G1B1F, 1 case (2%) of 1R1G3B2F. FISH detection also showed that 3 
      cases had BCR/ABL fusion gene, including 1 case with ASS1 gene deletion 
      (2R1G1B1F), 1 case with classical t (9; 22) translocation (1R1G2B2F) and 1 case 
      with BCR/ABL fusion gene and increase of ASS1 gene copy (1R1G3B3F). CONCLUSION: 
      Tricolor dual-fusion FISH probe for detecting BCR/ABL fusion gene and ASS1 gene 
      deletion is simple, rapid, sensitive and stable. It can detect various forms of 
      molecular fusion and avoid the false positive results due to coincidental overlap 
      of signals generated by D-FISH probe and ES-FISH probe. In addition, this 
      detection method not only can directly observe the presence or absence of ASS1 
      gene deletion, but also improve the reliability of the positive results of newly 
      diagnosed BCR/ABL fusion gene and accuracy of monitoring results of minimal 
      residual disease for the subsequent visit.
FAU - Zhang, Zhen-Hao
AU  - Zhang ZH
AD  - Department of Hematology, Peking University Third Hospital, Beijing 100191,China.
FAU - Wang, Yan-Fang
AU  - Wang YF
AD  - Department of Hematology, Peking University Third Hospital, Beijing 100191,China.
FAU - Wang, Miao
AU  - Wang M
AD  - Department of Pediatrics, Peking University People's Hospital, Beijing 100044, 
      China.
FAU - Dong, Fei
AU  - Dong F
AD  - Department of Hematology, Peking University Third Hospital, Beijing 100191,China.
FAU - Wan, Wei
AU  - Wan W
AD  - Department of Hematology, Peking University Third Hospital, Beijing 100191,China.
FAU - Ke, Xiao-Yan
AU  - Ke XY
AD  - Department of Hematology, Peking University Third Hospital, Beijing 100191,China.
FAU - Jing, Hong-Mei
AU  - Jing HM
AD  - Department of Hematology, Peking University Third Hospital, Beijing 
      100191,China,E-mail: hongmeijing@medmail.com.cn.
LA  - chi
PT  - Journal Article
PL  - China
TA  - Zhongguo Shi Yan Xue Ye Xue Za Zhi
JT  - Zhongguo shi yan xue ye xue za zhi
JID - 101084424
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Fusion Proteins, bcr-abl/genetics
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/*genetics
MH  - Reproducibility of Results
EDAT- 2020/08/18 06:00
MHDA- 2020/08/28 06:00
CRDT- 2020/08/18 06:00
PHST- 2020/08/18 06:00 [entrez]
PHST- 2020/08/18 06:00 [pubmed]
PHST- 2020/08/28 06:00 [medline]
AID - 1009-2137(2020)04-1115-08 [pii]
AID - 10.19746/j.cnki.issn.1009-2137.2020.04.006 [doi]
PST - ppublish
SO  - Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Aug;28(4):1115-1122. doi: 
      10.19746/j.cnki.issn.1009-2137.2020.04.006.