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Amplification of AML1 gene is present in childhood acute lymphoblastic leukemia but not in adult, and is not associated with AML1 gene mutation

Leukemia volume 16, pages 1131–1134 (2002)Cite this article

Abstract

The AML1/CBFA2/RUNX1 gene is the target of many recurrent translocations seen in different leukemia subtypes. The t(12;21)(p13;q22) is the most frequent translocation observed in childhood B acute lymphoblastic leukemia (ALL), occurring in 20% to 25% of cases. In adult ALL this rearrangement is scarce. Another route of AML1deregulation could be point mutations in the runt domain. We now report on AML1amplification in two cases of childhood ALL, found in a series of 107 consecutive children with B-lineage ALL analyzed by fluorescence in situ hybridization (FISH). A parallel analysis of 42 adult B-ALL failed to detect any AML1 rearrangement by FISH. The two patients with AML1 amplification were further analyzed using molecular techniques. SSCP analysis did not detect any mutation. Furthermore, direct sequencing of the cDNA did not reveal any mutation. In conclusion, AML1amplification seems to be observed only in childhood ALL and is not associated with AML1 gene mutation. Other mechanisms, such as gene dosage effects could be hypothesized.

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Acknowledgements

We thank N Philippe and M Crepin for excellent technical assistance.

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Author notes

  1. D Penther and C Preudhomme: Both authors contributed equally to this study

Authors and Affiliations

  1. Laboratory of Hematology, University Hospital, Nantes, France

    D Penther, P Talmant, A Godon, R Bataille & H Avet-Loiseau

  2. Laboratory of Hematology A, University Hospital, Lille, France

    C Preudhomme & C Roumier

  3. Department of Clinical Hematology, University Hospital, Nantes, France

    F Méchinaud & N Milpied

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  1. D Penther
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  2. C Preudhomme
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  3. P Talmant
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  8. R Bataille
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Penther, D., Preudhomme, C., Talmant, P. et al. Amplification of AML1 gene is present in childhood acute lymphoblastic leukemia but not in adult, and is not associated with AML1 gene mutation. Leukemia 16, 1131–1134 (2002). https://doi.org/10.1038/sj.leu.2402479

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