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Acta Haematol ; 130(1): 23-6, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23363773

RESUMEN

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 PML-RARa 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.


Asunto(s)
Cromosomas Humanos Par 6 , Reordenamiento Génico , Leucemia Promielocítica Aguda/genética , Translocación Genética/genética , Niño , Bandeo Cromosómico , Cromosomas Humanos Par 15 , Cromosomas Humanos Par 17 , Humanos , Hibridación Fluorescente in Situ , Masculino
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