Baruchel A, Cayuela J M, Ballerini P, Landman-Parker J, Cezard V, Firat H, Haddad E, Auclerc M F, Valensi F, Cayre Y E, Macintyre E A, Sigaux F
Molecular Haematology Laboratory and INSERM Unit U432, Hôpital Saint Louis, Paris, France.
Br J Haematol. 1997 Oct;99(1):101-6. doi: 10.1046/j.1365-2141.1997.3603174.x.
The t(12:21) translocation fuses the TEL and AML1 genes and has been found in up to 28% of paediatric B-cell precursor acute lymphoblastic leukaemias (BCP-ALL). The AML1 gene is a transcription factor which regulates expression of several myeloid differentiation associated genes. A molecular analysis of TEL-AML1, E2A-PBX1, MLL-AF4, BCR-ABL expression and an immunophenotypic study of CD13/CD33 myeloid antigen expression have been performed prospectively on tumour cells from 96 paediatric BCP-ALL patients. Percentages of CD13 or CD33 expressing leukaemic cells were found to be higher in TEL-AML1 positive cases (n = 22) than in TEL-AML1 negative (n = 74) cases (P<0.001). In 22/96 cases (23%) >10% of neoplastic cells were found to express at least one of the two markers. In 14 of these cases (63%), TEL-AML1 expression was detected, whereas t(4;11), t(11;19) and t(9;22) translocations were found by molecular methods in only three cases (14%). In four cases (18%) no molecular marker was found. These data show that TEL-AML1 expression is significantly associated with myeloid antigen expression by leukaemic cells and suggests that the prognostic significance of myeloid antigen expression in paediatric ALLs should be re-evaluated in the light of molecular cytogenetic markers.
t(12;21)易位使TEL和AML1基因融合,在高达28%的儿童B细胞前体急性淋巴细胞白血病(BCP-ALL)中被发现。AML1基因是一种转录因子,可调节几种髓系分化相关基因的表达。对96例儿童BCP-ALL患者的肿瘤细胞进行了TEL-AML1、E2A-PBX1、MLL-AF4、BCR-ABL表达的分子分析以及CD13/CD33髓系抗原表达的免疫表型研究。发现TEL-AML1阳性病例(n = 22)中表达CD13或CD33的白血病细胞百分比高于TEL-AML1阴性病例(n = 74)(P<0.001)。在96例中的22例(23%)中,发现>10%的肿瘤细胞表达两种标志物中的至少一种。在其中14例(63%)中检测到TEL-AML1表达,而通过分子方法在仅3例(14%)中发现t(4;11)、t(11;19)和t(9;22)易位。在4例(18%)中未发现分子标志物。这些数据表明,TEL-AML1表达与白血病细胞的髓系抗原表达显著相关,并提示应根据分子细胞遗传学标志物重新评估儿童ALL中髓系抗原表达的预后意义。