Frequent loss of heterozygosity without loss of genetic material in acute myeloid leukemia with a normal karyotype.
We performed a whole-genome loss of heterozygosity (LOH) analysis of 32 cases of acute myeloid leukemia with normal karyotype using high-density single nucleotide polymorphism arrays. LOH was found in 20% of cases. We identified two types of LOH: (i) interstitial, characterized by small deletions of genomic DNA (2-8 Mb), and (ii) terminal, involving large (30-90 Mb) telomeric regions. Surprisingly, terminal LOH occurred without loss of genetic material because of deletion of large chromosome regions and their substitution through the duplication of the corresponding regions from the homologous chromosomes (acquired partial uniparental disomy).
Gorletta
Tatiana Alessandra
TA
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Via Adamello 16, 20139 Milan, Italy.
Gasparini
Patrizia
P
D'Elios
Mario Milco
MM
Trubia
Maurizio
M
Pelicci
Pier Giuseppe
PG
Di Fiore
Pier Paolo
PP
D000208:Acute Disease; D002869:Chromosome Aberrations; D004273:DNA, Neoplasm / Q000235:genetics / Q000378:metabolism; D015894:Genome, Human; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics*; D019656:Loss of Heterozygosity; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016615:Telomere / Q000235:genetics
D004273:DNA, Neoplasm