PMID- 32015759
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220412
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 13
DP  - 2020
TI  - Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5'MYH11/3'CBFB 
      gene fusion: a report of two cases and literature review.
PG  - 4
LID - 10.1186/s13039-020-0474-9 [doi]
LID - 4
AB  - BACKGROUND: Abnormalities of chromosome 16 are found in about 5-8% of acute 
      myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is 
      associated with a high rate of complete remission (CR) and favorable overall 
      survival (OS) when treated with high-dose Cytarabine. At the inversion 
      breakpoints, deletion of 3'CBFB has been reported, but most of them were studied 
      by chromosome and fluorescence in situ hybridization (FISH) analyses. The genomic 
      characteristics of such deletions remain largely undefined, hindering further 
      understanding of the clinical significance of the deletions. CASE PRESENTATION: 
      We report here two AML cases with inv(16) and deletion of the 5'MYH11/3'CBFB gene 
      fusion, which were characterized by chromosome, FISH, and single nucleotide 
      polymorphism (SNP) microarray analyses. Both cases have achieved CR for more than 
      three years. CONCLUSIONS: Deletion of 3'CBFB in AML with inv(16) is also 
      accompanied with deletion of 5'MYH11 in all the cases studied by SNP microarray, 
      suggesting that 3'CBFB and 5'MYH11 were most likely deleted together as a fusion 
      product of inv(16) instead of occurring separately. In concert with the findings 
      of other published studies of similar patients, our study suggests that deletion 
      of 5'MYH11/3'CBFB in AML with inv(16) may not have negative impact on the 
      prognosis of the disease.
CI  - (c) The Author(s). 2020.
FAU - Lv, Lili
AU  - Lv L
AD  - 1Department of Oncology and Hematology, The Second Hospital of Jilin University, 
      Changchun, Jilin, China. GRID: grid.452829.0
FAU - Yu, Jingwei
AU  - Yu J
AD  - 2Department of Laboratory Medicine, University of California San Francisco, San 
      Francisco, CA USA. ISNI: 0000 0001 2297 6811. GRID: grid.266102.1
FAU - Qi, Zhongxia
AU  - Qi Z
AUID- ORCID: 0000-0001-7190-6457
AD  - 2Department of Laboratory Medicine, University of California San Francisco, San 
      Francisco, CA USA. ISNI: 0000 0001 2297 6811. GRID: grid.266102.1
LA  - eng
PT  - Case Reports
DEP - 20200130
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC6990480
OTO - NOTNLM
OT  - AML with inv(16)
OT  - Deletion of 5'MYH11/3'CBFB
OT  - SNP microarray
COIS- Competing interestsThe authors declare that they have no competing interests.
EDAT- 2020/02/06 06:00
MHDA- 2020/02/06 06:01
PMCR- 2020/01/30
CRDT- 2020/02/05 06:00
PHST- 2019/12/17 00:00 [received]
PHST- 2020/01/20 00:00 [accepted]
PHST- 2020/02/05 06:00 [entrez]
PHST- 2020/02/06 06:00 [pubmed]
PHST- 2020/02/06 06:01 [medline]
PHST- 2020/01/30 00:00 [pmc-release]
AID - 474 [pii]
AID - 10.1186/s13039-020-0474-9 [doi]
PST - epublish
SO  - Mol Cytogenet. 2020 Jan 30;13:4. doi: 10.1186/s13039-020-0474-9. eCollection 
      2020.