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AML-1 mutations outside the RUNT domain: description of two cases in myeloid malignancies

Leukemia volume 16, pages 2329–2332 (2002)Cite this article

The human AML1 (CBFA2) gene, which is disrupted in the t(8;21)(q22;q22) chromosomal translocation acts as a transcription factor regulating many genes expressed during the process of the hematopoiesis.1 Structural alterations of AML1 caused by non-translocation-generated mutations in the DNA binding runt domain have recently been reported in some cases of AML and MDS.2,3,4,5,6 This new molecular lesion seems to be particularly frequent in M0-AML. Furthermore, Song et al6 described the presence of AML1 mutations in a familial platelet disorder with a predisposition to develop AML (FDP/AML). In this work, we analyzed a consecutive series of myeloid malignancies and we found two new mutations which were localized outside of the runt domain of the AML1 gene.

A total of 30 patients with acute leukemia or MDS diagnosed following the FAB criteria were included in the study, as follows: M1 n = 4, M2 n = 5, M3 n = 1, M4 n = 3, M5 n = 9, CMML n = 1, RAEB and RAEBt n = 5 and hypoplastic AML n = 2 including one case of therapy-related AML. There were 20 males and 10 females with a median (range) age of 49.6 (10–84) years.

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Acknowledgements

MJC is funded by the Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau.

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  1. Departments of Hematology and Genetics, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

    MJ Carnicer, JF Nomdedéu, A Lasa, M Bellido, A Aventín, M Baiget & J Sierra

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  1. MJ Carnicer
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Carnicer, M., Nomdedéu, J., Lasa, A. et al. AML-1 mutations outside the RUNT domain: description of two cases in myeloid malignancies. Leukemia 16, 2329–2332 (2002). https://doi.org/10.1038/sj.leu.2402656

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