Caligiuri M A, Strout M P, Gilliland D G
Department of Hematologic Oncology and Bone Marrow Transplantation, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
Semin Oncol. 1997 Feb;24(1):32-44.
Clonal chromosome translocations, deletions, and inversions have been repeatedly observed for decades in approximately two thirds of all cases of acute myeloid leukemia (AML). With the dramatic advances in molecular biology that have occurred during the past two decades, these structural cytogenetic abnormalities have now provided invaluable clues as to the location of genes known or suspected of inducing leukemia. In most instances, leukemogenesis in AML results from gene fusion, when segments from two different genes are fused together to give rise to a chimeric structure consisting of the 5' end of one gene and the 3' end of another. Exceptions to this, however, do exist. In cases of AML that lack cytogenetic abnormalities, investigators are now also beginning to elucidate the genes involved in malignant transformation. Together, these observations support the notion that AML is heterogeneous at the molecular level, and suggest that clinicians will need to continue to take cytogenetic and molecular characteristics into consideration to optimize patient therapy.
几十年来，在大约三分之二的急性髓系白血病（AML）病例中反复观察到克隆性染色体易位、缺失和倒位。随着过去二十年分子生物学的巨大进展，这些结构细胞遗传学异常现在为已知或疑似诱发白血病的基因位置提供了宝贵线索。在大多数情况下，AML中的白血病发生是由基因融合导致的，即两个不同基因的片段融合在一起，形成一个由一个基因的5'端和另一个基因的3'端组成的嵌合结构。然而，也存在例外情况。在缺乏细胞遗传学异常的AML病例中，研究人员现在也开始阐明参与恶性转化的基因。这些观察结果共同支持了AML在分子水平上具有异质性的观点，并表明临床医生需要继续考虑细胞遗传学和分子特征，以优化患者治疗。
