PMID- 35688861
OWN - NLM
STAT- MEDLINE
DCOM- 20220614
LR  - 20220809
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 12
IP  - 1
DP  - 2022 Jun 10
TI  - FISH improves risk stratification in acute leukemia by identifying KMT2A abnormal 
      copy number and rearrangements.
PG  - 9585
LID - 10.1038/s41598-022-13545-y [doi]
LID - 9585
AB  - Most cases of acute leukemia (AL) with KMT2A rearrangement (KMT2A-r) have a 
      dismal prognosis. Detection of this aberration in Chinese adult patients relies 
      on reverse transcription polymerase chain reaction (RT-PCR) and chromosome 
      banding analysis (CBA). The fluorescence in situ hybridization (FISH) probe for 
      KMT2A detects KMT2A-r and copy number variation (CNV) but is not routinely used 
      as a detection technique. This study investigated the potential value of FISH in 
      the treatment of AL by performing FISH along with CBA and RT-PCR in 269 de novo 
      cases of AL. The three detection techniques were compared in identification of 
      KMT2A-r, and the applicability of FISH for detecting KMT2A CNV was evaluated. 
      Twenty-three samples were identified as positive for KMT2A-r (20 using FISH, 15 
      using RT-PCR, 16 using CBA, and eight according to all three). FISH also 
      identified 17 KMT2A CNV, 15 with gains and two with deletions. Ten patients with 
      acute myeloid leukemia (AML) harboring KMT2A CNV had a complex karyotype, a 
      negative prognostic factor in AML. Adding FISH of KMT2A to routine detection 
      leads to more accurate detection of KMT2A-r and improved identification of KMT2A 
      CNV, which would benefit patients by improving the risk stratification in AL.
CI  - (c) 2022. The Author(s).
FAU - Li, Qinlu
AU  - Li Q
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Xing, Shugang
AU  - Xing S
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Zhang, Heng
AU  - Zhang H
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Mao, Xia
AU  - Mao X
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Xiao, Min
AU  - Xiao M
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Wang, Ying
AU  - Wang Y
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China. bluewy629@163.com.
LA  - eng
PT  - Journal Article
DEP - 20220610
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
SB  - IM
MH  - *DNA Copy Number Variations
MH  - Gene Rearrangement
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia, Myeloid, Acute/diagnosis/genetics
MH  - Myeloid-Lymphoid Leukemia Protein/genetics
MH  - Risk Assessment
PMC - PMC9187764
COIS- The authors declare no competing interests.
EDAT- 2022/06/11 06:00
MHDA- 2022/06/15 06:00
PMCR- 2022/06/10
CRDT- 2022/06/10 23:18
PHST- 2022/03/17 00:00 [received]
PHST- 2022/05/25 00:00 [accepted]
PHST- 2022/06/10 23:18 [entrez]
PHST- 2022/06/11 06:00 [pubmed]
PHST- 2022/06/15 06:00 [medline]
PHST- 2022/06/10 00:00 [pmc-release]
AID - 10.1038/s41598-022-13545-y [pii]
AID - 13545 [pii]
AID - 10.1038/s41598-022-13545-y [doi]
PST - epublish
SO  - Sci Rep. 2022 Jun 10;12(1):9585. doi: 10.1038/s41598-022-13545-y.