Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia
Setareh Safavi,
Markus Hansson,
Karin Karlsson,
Andrea Biloglav,
Bertil Johansson,
Kajsa Paulsson
Affiliations
Setareh Safavi
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University
Markus Hansson
Division of Hematology, Skåne University Hospital, Lund University;
Karin Karlsson
Division of Hematology, Skåne University Hospital, Lund University;
Andrea Biloglav
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University
Bertil Johansson
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University;Department of Clinical Genetics, University and Regional Laboratories, Region Skåne, Lund, Sweden
Kajsa Paulsson
Division of Clinical Genetics, Department of Laboratory Medicine, Lund University
In contrast to acute lymphoblastic leukemia in children, adult cases of this disease are associated with a very poor prognosis. In order to ascertain whether the frequencies and patterns of submicroscopic changes, identifiable with single nucleotide polymorphism array analysis, differ between childhood and adult acute lymphoblastic leukemia, we performed single nucleotide polymorphism array analyses of 126 adult cases, the largest series to date, including 18 paired diagnostic and relapse samples. Apart from identifying characteristic microdeletions of the CDKN2A, EBF1, ETV6, IKZF1, PAX5 and RB1 genes, the present study uncovered novel, focal deletions of the BCAT1, BTLA, NR3C1, PIK3AP1 and SERP2 genes in 2–6% of the adult cases. IKZF1 deletions were associated with B-cell precursor acute lymphoblastic leukemia (P=0.036), BCR-ABL1-positive acute lymphoblastic leukemia (P
