Coexistent t(8;21)(q22;q22) Translocation and 5q Deletion in Acute Myeloid Leukemia

Journal of Clinical and Experimental Hematopathology : JCEH
Katsuya YamamotoHironobu Minami

Abstract

The t(8;21)(q22;q22) translocation is specifically observed in acute myeloid leukemia (AML) M2 subtype, whereas del(5q) is one of the most common cytogenetic aberrations in myelodysplastic syndromes (MDS). Thus, t(8;21)(q22;q22) and del(5q) appear to be mutually exclusive, and the association between them has not been characterized yet. Here, we report an 81-year-old woman with coexistent t(8;21)(q22;q22) and del(5q) at initial diagnosis. The bone marrow was infiltrated with 18.4% myeloblasts, and showed marked myeloid and erythroid dysplasia. Myeloblasts were positive for CD19 and CD56 as well as CD13, CD33, CD34 and HLA-DR. G-banding and spectral karyotyping showed 46,XX,del(5)(q?),t(8;21)(q22;q22)[18]/46,XX[2]. Both del(5)(q?) and t(8;21)(q22;q22) were present in a single clone. Fluorescence in situ hybridization (FISH) on metaphase spreads detected a RUNX1/RUNX1T1 fusion signal on the der(8)t(8;21)(q22;q22), and confirmed deletion of CSF1R signaling at 5q33-q34 on the del(5)(q?). Furthermore, FISH on interphase nuclei revealed that the RUNX1/RUNX1T1 fusion signal and deletion of CSF1R signaling were found in 66.0% and 58.0% of interphase cells, respectively, suggesting that del(5)(q?) occurred in cells with RUNX1/RUNX1T1. T...Continue Reading

References

Jun 1, 1986·Human Genetics·E L PrigoginaM A Frenkel
Jul 24, 2013·Oncology Reports·Ioannis PanagopoulosSverre Heim
Feb 11, 2014·Best Practice & Research. Clinical Haematology·Rami S KomrokjiAlan F List
Mar 22, 2014·Experimental Hematology & Oncology·Jianling JiCarlos A Tirado

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