ABL1 amplification in T-cell acute lymphoblastic leukemia

Paolo Bernasconi, Silvia Calatroni, Ilaria Giardini, Alessandro Inzoli, Carlo Castagnola, Paola Maria Cavigliano, Barbara Rocca, Marina Boni, Jessica Quarna, Rita Zappatore, Marilena Caresana, Clara Bianchessi, Enrico Bobbio Pallavicini, Mario Lazzarino

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ABL1 amplification, due to a cryptic episomal translocation NUP214/ABL1, is a novel finding in T-cell acute lymphoblastic leukemia (ALL). Here we report on the incidence and clinical features of this genetic defect in a series of 30 consecutive adult T-cell ALL patients. Multiple copies of the ABL1 gene were detected in two patients (6.6%), one with the karyotype 46,XY,t(1;3)(p36;p21), del(6)(q23)/46,XY and the other without analyzable metaphases. Metaphase/interphase fluorescence in situ hybridization (FISH) detected multiple uncountable signals corresponding to ABL1 in mitotic cells and nuclei from both patients. In one patient, no signals corresponded with the 9p21 chromosomal region, which contains the p16INK4a gene, and in the other one signal was observed. Quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) demonstrated that in these patients ABL1 gene expression was 14- and 18-fold greater than in normal controls, and returned to normal levels only when complete remission was achieved. We reached the following conclusions: (1) FISH is the only technique that promptly identifies T-cell ALL patients with ABL1 amplification, (2) quick identification with FISH is fundamental in the clinic because this T-cell ALL subset is imatinib sensitive but may become resistant due to development of additional mutations, and (3) ABL1 quantitative RT-PCR may be easily applied to monitor minimal residual disease.

Original languageEnglish
Pages (from-to)146-150
Number of pages5
JournalCancer Genetics and Cytogenetics
Issue number2
Publication statusPublished - Oct 15 2005

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology


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