PMID- 36833323
OWN - NLM
STAT- MEDLINE
DCOM- 20230228
LR  - 20240427
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 2
DP  - 2023 Feb 3
TI  - Fusion Gene-Based Classification of Variant Cytogenetic Rearrangements in Acute 
      Myeloid Leukemia.
LID - 10.3390/genes14020396 [doi]
LID - 396
AB  - Acute myeloid leukemia (AML) represents a heterogeneous disease entity that is 
      continuously moving to a more genetically defined classification. The 
      classification of AML with recurrent chromosomal translocations, including those 
      involving core binding factor subunits, plays a critical role in diagnosis, 
      prognosis, treatment stratification, and residual disease evaluation. Accurate 
      classification of variant cytogenetic rearrangements in AML contributes to 
      effective clinical management. We report here the identification of four variant 
      t(8;V;21) translocations in newly diagnosed AML patients. Two patients showed a 
      t(8;14) and a t(8;10) variation, respectively, with a morphologically 
      normal-appearing chromosome 21 in each initial karyotype. Subsequent fluorescence 
      in situ hybridization (FISH) on metaphase cells revealed cryptic three-way 
      translocations t(8;14;21) and t(8;10;21). Each resulted in RUNX1::RUNX1T1 fusion. 
      The other two patients showed karyotypically visible three-way translocations 
      t(8;16;21) and t(8;20;21), respectively. Each resulted in RUNX1::RUNX1T1 fusion. 
      Our findings demonstrate the importance of recognizing variant forms of t(8;21) 
      translocations and emphasize the value of applying RUNX1::RUNX1T1 FISH for the 
      detection of cryptic and complex rearrangements when abnormalities involving 
      chromosome band 8q22 are observed in patients with AML.
FAU - Gudipati, Mary
AU  - Gudipati M
AUID- ORCID: 0000-0002-8390-9791
AD  - Department of Pathology, University of Maryland School of Medicine, Baltimore, MD 
      21201, USA.
FAU - Butler, Melody
AU  - Butler M
AD  - Department of Pathology, University of Maryland School of Medicine, Baltimore, MD 
      21201, USA.
FAU - Koka, Rima
AU  - Koka R
AD  - Department of Pathology, University of Maryland School of Medicine, Baltimore, MD 
      21201, USA.
FAU - Baer, Maria R
AU  - Baer MR
AD  - Department of Medicine, University of Maryland School of Medicine, Greenebaum 
      Comprehensive Cancer Center, Baltimore, MD 21201, USA.
FAU - Ning, Yi
AU  - Ning Y
AUID- ORCID: 0000-0001-7299-1411
AD  - Department of Pathology, University of Maryland School of Medicine, Baltimore, MD 
      21201, USA.
LA  - eng
GR  - P30 CA134274/CA/NCI NIH HHS/United States
GR  - P30CA134274/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
DEP - 20230203
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
SB  - IM
MH  - Humans
MH  - *Core Binding Factor Alpha 2 Subunit/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - Gene Rearrangement
MH  - *Leukemia, Myeloid, Acute/genetics
MH  - Translocation, Genetic
MH  - Karyotyping
PMC - PMC9957481
OTO - NOTNLM
OT  - RUNX1::RUNX1T1 fusion
OT  - acute myeloid leukemia
OT  - complex rearrangement
OT  - cryptic translocation
COIS- The authors declare no conflict of interest.
EDAT- 2023/02/26 06:00
MHDA- 2023/03/03 06:00
PMCR- 2023/02/03
CRDT- 2023/02/25 02:14
PHST- 2022/12/20 00:00 [received]
PHST- 2023/01/29 00:00 [revised]
PHST- 2023/02/01 00:00 [accepted]
PHST- 2023/02/25 02:14 [entrez]
PHST- 2023/02/26 06:00 [pubmed]
PHST- 2023/03/03 06:00 [medline]
PHST- 2023/02/03 00:00 [pmc-release]
AID - genes14020396 [pii]
AID - genes-14-00396 [pii]
AID - 10.3390/genes14020396 [doi]
PST - epublish
SO  - Genes (Basel). 2023 Feb 3;14(2):396. doi: 10.3390/genes14020396.