Fluorescence in situ hybridization analysis of 110 hematopoietic disorders with chromosome 5 abnormalities: do de novo and therapy-related myelodysplastic syndrome–acute myeloid leukemia actually differ?

• Published in: Cancer genetics and cytogenetics 2007-07, Vol.176 (1), p.1-21
• Main Authors: Lessard, M, Hélias, C, Struski, S, Perrusson, N, Uettwiller, F, Mozziconacci, M.-J, Lafage-Pochitaloff, M, Dastugue, N, Terré, C, Brizard, F, Cornillet-Lefebvre, P, Mugneret, F, Barin, C, Herry, A, Luquet, I, Desangles, F, Michaux, L, Verellen-Dumoulin, C, Perrot, C, Van den Akker, J, Lespinasse, J, Eclache, V, Berger, R
• Format: Article
• Language: English
• Subjects: Acute Disease; Adolescent; Adult; Aged; Aged, 80 and over; Antineoplastic Agents - adverse effects; Chromosome Aberrations; Chromosome Deletion; Chromosomes, Human, Pair 5; Chromosomes, Human, Pair 7; Female; Hematology, Oncology and Palliative Medicine; Humans; In Situ Hybridization, Fluorescence; Leukemia, Myeloid - genetics; Male; Medical Education; Middle Aged; Myelodysplastic Syndromes - genetics; Neoplasms, Radiation-Induced; Translocation, Genetic
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2007.01.013

Abstract A retrospective cytogenetic study of acute myeloid leukemias (AML) and myelodysplastic syndromes (MDS) was conducted by the Groupe Francophone de Cytogénétique Hématologique (GFCH) to evaluate the structural abnormalities of chromosome 5 associated with other chromosomal abnormalities, in particular of chromosome 7, in these pathologies. In all, 110 cases of AML/MDS were recruited based on the presence of chromosome 5 abnormalities under conventional cytogenetics and supplemented by a systematic fluorescence in situ hybridization study of chromosomes 5 and 7. The abnormalities of the long arm of chromosome 5 (5q) were deletions of various sizes and sometimes cryptic. The 5q abnormalities were associated with translocations in 54% of cases and were simple deletions in 46%. In 68% of cases, 5q deletions were associated with chromosome 7 abnormalities, and 90% of these presented a complex karyotype. Of the 110 patients, 28 had a hematopoietic disorder secondary to chemotherapy, radiotherapy, or both. Among 82 patients with de novo AML/MDS, 63 were older than 60 years. Chromosomal abnormalities often associated hypodiploidy and chromosome 5 and 7 abnormalities in complex karyotypes, features resembling those of secondary hemopathies. Systematic investigation of the exposure to mutagens and oncogenes is thus essential to specify the factors potentially involved in MDS/AML with 5q abnormalities.