title: [The role of TEL and AML1 genes in the pathogenesis of hematologic malignancies].
abstract: 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.
authors.affiliation: II. dĕtská klinika 2. LF UK a FNM, Praha. jan.zuna@lfmotol.cuni.cz
authors.forename: J
authors.initials: J
authors.lastname: Zuna
mesh_terms: D000818:Animals; D002648:Child; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics; D006801:Humans; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011518:Proto-Oncogene Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C493728:RUNX1 protein, human; C102421:TEL-AML1 fusion protein