title: Coexistent t(8;21)(q22;q22) Translocation and 5q Deletion in Acute Myeloid Leukemia.
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. These results indicated a diagnosis of AML with t(8;21)(q22;q22)/RUNX1/RUNX1T1 rather than MDS, even though the percentage of bone marrow myeloblasts was less than 20%. Based on these findings, together with those of other reported cases, del(5q) seems to be an extremely rare but recurrent secondary aberration in AML with t(8;21)(q22;q22).
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Kimikazu
authors.initials: K
authors.lastname: Yakushijin
authors.forename: Yukinari
authors.initials: Y
authors.lastname: Sanada
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Kawamoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Matsuoka
authors.forename: Hironobu
authors.initials: H
authors.lastname: Minami
mesh_terms: D001853:Bone Marrow / Q000378:metabolism / Q000473:pathology; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics*; D014178:Translocation, Genetic