SNP array of 121 AML patients at diagnosis

Acute myeloid leukemia (AML) patients carrying complex karyotype or aneuploidies have a very poor prognosis, with a 5-year overall survival lower than 20%. We and others have shown that complex karyotype and aneuploid patients are characterized by high genomic instability, along with defects of DNA damage response genes and, occasionally, by chromothripsis. Chromothripsis frequently occurs in AML (6.6%) and influences patient prognosis and disease biology. Moreover, the homology recombination pathway is frequently deregulated at expression level in AML. We showed that PALB2 is affect by copy-number deletions in AML (5.2%) and it may be a potential biomarker for very-poor prognosis AML. DNA obtained from bone marrow mononuclear cells of 121 AML patients was used for Affymetrix genome-wide SNP 6.0 or CytoScan HD array-based genomic profiling.