Isochromosome 5p and related anomalies: a novel recurrent chromosome abnormality in myeloid disorders

Loss of material from chromosome arm 5q is a common finding in patients with myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML). Fluorescence in situ hybridization with a panel of different types of probes, used as a complement to conventional cytogenetics, revealed that 7 of 148 patients (4.7%) with abnormalities of chromosome 5 had an i(5)(p10), an idic(5)(q11), or a structurally rearranged i(5)(p10). Three patients had MDS and four had AML. Six of the patients were female, and one was male; age at diagnosis ranged from 56 to 85 years. All patients but one had a complex karyotype. Isochromosome of the short arm of chromosome 5 and its related abnormalities such as idic(5)(q11) and structurally rearranged i(5)(p10) are rare but recurrent abnormalities; their identification requires a combination of conventional and molecular cytogenetic techniques. The biological and clinical significance cannot yet be assessed, not only because too few cases have been described but also because these abnormalities are usually part of a complex karyotype.