Dissemin is shutting down on January 1st, 2025

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Karger Publishers, Acta Haematologica, 1(130), p. 23-26, 2013

DOI: 10.1159/000345828

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An Unusual Cytogenetic Rearrangement Originating from Two Different Abnormalities in Chromosome 6 in a Child with Acute Promyelocytic Leukemia

This paper is available in a repository.
This paper is available in a repository.

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Data provided by SHERPA/RoMEO

Abstract

Acute promyelocytic leukemia (APL) is usually associated with a favorable outcome, but about 10% of patients tend to relapse. The genetic hallmark of APL is a balanced translocation involving chromosomes 15 and 17, and the <i>PML-RARa</i> gene fusion is found in more than 90% of these cases. Other chromosomal abnormalities are commonly found in APL, but their clinical significance has yet to be determined. Here we report a case of childhood APL that was studied by conventional cytogenetics along with molecular cytogenetic techniques. The patient showed a complex karyotype with an unusual cytogenetic rearrangement originating from two different abnormalities in a single chromosome 6. Our case is an exceptional example of a cryptic cytogenetic anomaly in APL and underscores the importance of detailed genetic characterization.