Human Pathology
Volume 41, Issue 2 , Pages 286-292, February 2010

t(8;21)(q22;q22) Translocation involving AML1 and ETO in B lymophoblastic leukemia

  • Huan-You Wang, MD, PhD

      Affiliations

    • Division of Hematopathology, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9073, USA
    • Corresponding Author InformationCorresponding author. Department of Pathology, UCSD School of Medicine, La Jolla, CA 92093-0987, USA.
    • ,
  • Carlos A. Tirado, PhD

      Affiliations

    • Division of Cytogenetics, Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390-9073, USA

Received 9 July 2009; received in revised form 4 August 2009; accepted 7 August 2009. published online 09 November 2009.

Summary 

t(8;21)(q22;q22) giving rise to RUNX1/RUNX1T1 fusion transcript is a recurrent non-random chromosomal translocation, accounting for approximately 5% of cases of acute myeloid leukemia and 10% of acute myeloid leukemia with maturation. Studies have demonstrated so far that t(8;21)(q22;q22) occurs only in acute myeloid leukemia, and B lymphoblastic leukemia with t(8;21)(q22;q22) has not been reported in the literature. In the present study, we report a 44-year-old woman with a diagnosis of a B lymphoblastic leukemia based on morphology and immunophenotype. Conventional cytogenetic studies have shown a complex cytogenetic abnormality, notably and surprisingly, a t(8;21)(q22;q22) translocation. Interphase and metaphase fluorescent in situ hybridization have revealed a RUNX1/RUNX1T1 fusion signal on derivative chromosome 8 but not on chromosome 21, confirming the unbalanced translocation between chromosomes 8q22 and 21q22 involving both the RUNX1 and RUNX1T1 genes. The significance of this novel finding and its clinical applications has been further discussed.

Keywords: B lymphoblastic leukemia, t(8;21)(q22;q22), Fluorescence in situ hybridization

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PII: S0046-8177(09)00289-5

doi:10.1016/j.humpath.2009.08.004

Refers to erratum:

  • Erratum to “t(8;21)(q22;q22) Translocation Involving AML1 and ETO in B Lymophoblastic Leukemia” [Hum Pathol 2010, 2:286-292]

    Huan-You Wang, Carlos A. Tirado
    Human Pathology April 2010 (Vol. 41, Issue 4, Page 620)

Human Pathology
Volume 41, Issue 2 , Pages 286-292, February 2010

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