Zuna J
II. dĕtská klinika 2. LF UK a FNM, Praha.
Cas Lek Cesk. 2001 Mar 15;140(5):131-7.
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.
在血液系统恶性肿瘤中，TEL和AML1基因出现明显大量的不同畸变。除AML1外，TEL常与编码酪氨酸激酶的基因融合。AML1基因是CBF转录因子的一部分。AML1在儿童急性淋巴细胞白血病（ALL）以及大量急性髓系白血病中均可发生改变（最常见的是作为AML1/ETO融合）。TEL/AML1融合基因（源自t(12;21)(p13;q22)易位）最近成为儿童ALL最重要的遗传畸变之一。TEL/AML1可能作为第二个AML1等位基因的显性抑制剂，从而阻断依赖CBF因子的基因转录。具有TEL/AML1杂交基因的儿童ALL非常常见（在捷克共和国约占儿童ALL总数的22%），具有这种融合的患者形成相对同质的群体。这些儿童大多在学龄前被诊断为B细胞前体白血病，并且他们有非常好的治疗效果。
