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Fusion Gene-Based Classification of Variant Cytogenetic Rearrangements in Acute Myeloid Leukemia.

Authors
  • Gudipati, Mary1
  • Butler, Melody1
  • Koka, Rima1
  • Baer, Maria R2
  • Ning, Yi1
  • 1 Department of Pathology, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • 2 Department of Medicine, University of Maryland School of Medicine, Greenebaum Comprehensive Cancer Center, Baltimore, MD 21201, USA.
Type
Published Article
Journal
Genes
Publisher
MDPI AG
Publication Date
Feb 03, 2023
Volume
14
Issue
2
Identifiers
DOI: 10.3390/genes14020396
PMID: 36833323
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

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.

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