Duplication of isodicentric chromosome 13, idic(13)(p11.2), leading to pentasomy 13q in acute myeloid leukemia without maturation

摘要: Isodicentric chromosome 13, idic(13)(p11.2), is a very rare chromosomal aberration in acute myeloid leukemia (AML). We describe here novel case of AML without maturation, where the leukemic cells harbored double idic(13)(p11.2) and normal 13 resulting pentasomy 13q. Analyses were done on aspirated bone marrow from diagnosis. utilized G-banding analysis, 24-color karyotyping additional FISH analyses with various locus-specific probes to characterize complement. Oligonucleotide-based 180K aCGH analysis was search for submicroscopic imbalances. The karyotype 47,XY,idic(13)(p11.2)x2[23]/46,XY[2]. Pantelomeric indicated critically short telomeres. Oligo-based confirmed high copy gain 13q did not disclose other genomic Reviewing literature, this may be second 13q, since when analyzed by conventional cytogenetics, indistinguishable i(13)(q10). Both cases associated immature poor outcome. propose that new recurrent abnormality maturation suggest an early event pathogenesis through amplification genes located