TY - JOUR
T1 - Duplication of isodicentric chromosome 21, idic(21)(p11.2), leading to pentasomy 21q in acute myeloid leukemia with multilineage dysplasia
AU - Shimoyama, Manabu
AU - Yamamoto, Katsuya
AU - Nishikawa, Shinichiro
AU - Minagawa, Kentaro
AU - Katayama, Yoshio
AU - Matsui, Toshimitsu
N1 - Funding Information:
This work was supported in part by grants-in-aid for scientific research from the Ministry of Health, Welfare and Labor and from the Ministry of Education, Culture, Sports, Science and Technology of Japan (No. 19591113).
PY - 2009/10/1
Y1 - 2009/10/1
N2 - 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)×2, 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.
AB - 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)×2, 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.
UR - http://www.scopus.com/inward/record.url?scp=69549121718&partnerID=8YFLogxK
U2 - 10.1016/j.cancergencyto.2009.04.019
DO - 10.1016/j.cancergencyto.2009.04.019
M3 - Article
C2 - 19737652
AN - SCOPUS:69549121718
SN - 0165-4608
VL - 194
SP - 38
EP - 43
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
IS - 1
ER -