Ferrari T, Weber B, Pils S, Harbott J, Borkhardt A
Hematology and Oncology, Children's University Hospital Giessen, Giessen, Germany.
Ann Hematol. 2001 Feb;80(2):72-3. doi: 10.1007/s002770000238.
There is increasing evidence that the acute myeloid leukemia 1 (AML-1) gene plays a versatile role in hematopoiesis, and its inactivation has been described in various hematopoetic disorders, e.g., leukemia or familial thrombocytopenia. AML-1 can be affected by various mechanisms, such as chromosomal translocations or point mutations. On the other hand, the specific underlying molecular lesions in myelodysplastic syndromes (MDS) or leukemias with aberrations of chromosomes 5q or 7, respectively, are largely unknown. Despite extraordinary scientific effort no specific genes on chromosome 5q or 7, which act as tumor suppressors, have definitely been identified. Therefore, it has recently been speculated that the AML-1 gene, even if distantly located on chromosome 21q22, may be involved in leukemogenesis in patients with aberrations at chromosome 5q or monosomy 7 [2]. Therefore, we sequenced all exons of the AML-1 gene in 15 patients with MDS/AML and deleted chromosome 5q or 7q, respectively. None of the patients analyzed had any AML-1 mutation.
越来越多的证据表明，急性髓系白血病1（AML-1）基因在造血过程中发挥着多种作用，并且其失活已在各种造血系统疾病中被描述，例如白血病或家族性血小板减少症。AML-1可受多种机制影响，如染色体易位或点突变。另一方面，骨髓增生异常综合征（MDS）或分别伴有5号或7号染色体畸变的白血病中具体的潜在分子病变在很大程度上尚不清楚。尽管付出了巨大的科学努力，但尚未明确鉴定出位于5号或7号染色体上作为肿瘤抑制因子的特定基因。因此，最近有人推测，即使AML-1基因位于较远的21号染色体q22区域，它可能也参与了5号染色体q臂缺失或7号染色体单体患者的白血病发生过程[2]。因此，我们对15例分别伴有5号染色体q臂缺失或7号染色体q臂缺失的MDS/AML患者的AML-1基因所有外显子进行了测序。所分析的患者均未出现任何AML-1突变。
