title: Duplication of isodicentric chromosome 21, idic(21)(p11.2), leading to pentasomy 21q in acute myeloid leukemia with multilineage dysplasia.
abstract: Isodicentric chromosome 21, idic(21)(p11.2), is a rare but recurrent cytogenetic aberration in acute lymphoblastic leukemia. We describe here a novel case of acute myeloid leukemia (AML) with double idic(21)(p11.2). A 35-year-old man was diagnosed as having de novo AML with multilineage dysplasia because of 30% myeloperoxidase-positive blasts and trilineage dysplasia in the bone marrow. Surface marker analysis revealed that the blasts were positive for CD7, CD13, CD33, CD34, and HLA-DR. Chromosome analysis and spectral karyotyping showed 47,XY,+21,idic(21)(p11.2)x2, leading to pentasomy 21q. Fluorescence in situ hybridization demonstrated two RUNX1 signals on the idic(21)(p11.2), resulting in a total of five RUNX1 signals in metaphase spreads and interphase nuclei. These results suggest that the idic(21)(p11.2) could be implicated also in the pathogenesis of AML through amplification of genes including RUNX1 located on 21q.
authors.affiliation: Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Shimoyama
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Shinichiro
authors.initials: S
authors.lastname: Nishikawa
authors.forename: Kentaro
authors.initials: K
authors.lastname: Minagawa
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Katayama
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Matsui
mesh_terms: D000208:Acute Disease; D000328:Adult; D000782:Aneuploidy; D015703:Antigens, CD / Q000097:blood; D018952:Antigens, CD34 / Q000097:blood; D019011:Antigens, CD7 / Q000097:blood; D015214:Antigens, Differentiation, Myelomonocytic / Q000097:blood; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D018826:CD13 Antigens / Q000097:blood; D002871:Chromosome Banding; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D020440:Gene Duplication; D006684:HLA-DR Antigens / Q000097:blood; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008297:Male; D063268:Sialic Acid Binding Ig-like Lectin 3; D032681:Spectral Karyotyping
chemical_list: D015703:Antigens, CD; D018952:Antigens, CD34; D019011:Antigens, CD7; D015214:Antigens, Differentiation, Myelomonocytic; C571163:CD33 protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D006684:HLA-DR Antigens; C493728:RUNX1 protein, human; D063268:Sialic Acid Binding Ig-like Lectin 3; D018826:CD13 Antigens