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  Česky / Czech version Čas. Lék. čes., 140, 2001, No. 5, p. 131–137.
 
The Role of TEL and AML1 Genes in Pathogenesis of Haematological Malignancies 
Zuna J. 

II. dětská klinika 2. LF UK a FNM, Praha
 


Summary:

       TEL and AML1 genes occur in a markedly high number of different aberrations in haematological malignancies. Besides the AML1, TEL is often fused to genes, which encod thyrosin-kinases. AML1 gene is a part of CBF transcription factor. AML1 can be altered in childhood acute lymphoblastic leukaemia (ALL) and also in a substantial number of acute myeloid leukaemias (most frequently as an AML1/ETO fusion). TEL/AML1 fusion gene (derived from t(12;21)(p13;q22) translocation) became recently one of the most important genetic aberrations in children with ALL. TEL/AML1 act presumably as dominant inhibitors of the second AML1 allele and thus they block transcription of genes dependent on CBF factor. Childhood ALL with TEL/AML1 hybrid gene is very frequent (approximately 22 % of overall childhood ALL in the Czech Republic) and patients with this fusion form relatively homogenous group. These children are diagnosed mostly in pre-school age as a B cell precursor leukaemias and they have very good treatment results.

        Key words: TEL, AML1, TEL/AML1 fusion gene, childhood acute lymphoblastic leukaemia.
       

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