Pandolfi P P
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center, Graduate School of Medical Sciences, Cornell University, New York, NY 10021, USA.
Cancer Chemother Pharmacol. 2001 Aug;48 Suppl 1:S17-9. doi: 10.1007/s002800100322.
Acute promyelocytic leukemia (APL) is characterized by the expansion of malignant myeloid cells blocked at the promyelocytic stage of hemopoietic development and is invariably associated with reciprocal chromosomal translocations involving the retinoic acid receptor alpha (RARalpha) gene on chromosome 17. RARalpha variably fuses to PML, PLZF, NPM, NuMA, and Stat5B genes (X genes/proteins). These translocations are balanced and reciprocal, thus leading to the generation of X-RARalpha and RARalpha-X fusion genes of which the products coexist in the APL blast. The invariable involvement in these translocations of RARalpha, a prototypical transcription factor, makes APL a compelling example of aberrant transcriptional mechanisms in the etiopathogenesis of cancer. This paper focuses on the recent progress in defining the molecular mechanisms underlying APL pathogenesis and addresses how this new understanding has allowed the proposal and development of novel therapeutic strategies with compounds such as histone deacetylase inhibitors and inorganic arsenicals such as As2O3 which are currently being tested in murine leukemia models as well as in human APL patients. In particular, the crucial role played by the aberrant transcriptional activities of X-RARalpha and RARalpha-X fusion proteins in APL pathogenesis is discussed by reviewing the relevant therapeutic implications resulting from this analysis.
急性早幼粒细胞白血病(APL)的特征是造血发育早幼粒细胞阶段受阻的恶性髓系细胞扩增,并且总是与涉及17号染色体上维甲酸受体α(RARα)基因的相互染色体易位相关。RARα可变地与PML、PLZF、NPM、NuMA和Stat5B基因(X基因/蛋白)融合。这些易位是平衡且相互的,从而导致产生X-RARα和RARα-X融合基因,其产物在APL原始细胞中共存。作为典型转录因子的RARα在这些易位中始终被涉及,这使得APL成为癌症病因学中异常转录机制的一个引人注目的例子。本文重点关注在确定APL发病机制的分子机制方面的最新进展,并探讨这种新认识如何促使人们提出并开发新的治疗策略,这些策略使用了诸如组蛋白脱乙酰酶抑制剂和无机砷化物如As2O3等化合物,目前正在小鼠白血病模型以及人类APL患者中进行测试。特别是,通过回顾该分析产生的相关治疗意义,讨论了X-RARα和RARα-X融合蛋白的异常转录活性在APL发病机制中所起的关键作用。