Bassi Sarah Cristina, Rego Eduardo Magalhães
Hematology and Oncology Division, Medical School of Ribeirão Preto, Universidade de São Paulo - USP, Ribeirão Preto, SP, Brazil.
Rev Bras Hematol Hemoter. 2012;34(2):134-9. doi: 10.5581/1516-8484.20120033.
Acute promyelocytic leukemia is characterized by gene rearrangements that always involve the retinoic acid receptor alpha on chromosome 15. In the majority of patients t(15;17) is detected, which generates the promyelocytic leukemia gene/retinoic acid receptor alpha rearrangement. This rearrangement interacts with several proteins, including the native promyelocytic leukemia gene, thus causing its delocalization from the nuclear bodies, impairing its function. The immunofluorescence staining technique using the anti-PML antibody may be used to provide a rapid diagnosis and to immediately start therapy using all-trans retinoic acid. The experience of the International Consortium on Acute Promyelocytic Leukemia has demonstrated that early mortality was significantly reduced by adopting the immunofluorescence technique. All-trans retinoic acid combined with chemotherapy is the standard therapy; this promotes complete remission rates greater than 90% and cure rates of nearly 80%. However, early mortality is still an important limitation and hematologists must be aware of the importance of treating newly diagnosed acute promyelocytic leukemia as a medical emergency.
急性早幼粒细胞白血病的特征是基因重排，这种重排总是涉及15号染色体上的维甲酸受体α。在大多数患者中可检测到t(15;17)，它会产生早幼粒细胞白血病基因/维甲酸受体α重排。这种重排与多种蛋白质相互作用，包括天然的早幼粒细胞白血病基因，从而导致其从核体中脱离，损害其功能。使用抗PML抗体的免疫荧光染色技术可用于快速诊断，并立即开始使用全反式维甲酸进行治疗。国际急性早幼粒细胞白血病联盟的经验表明，采用免疫荧光技术可显著降低早期死亡率。全反式维甲酸联合化疗是标准治疗方法；这可使完全缓解率超过90%，治愈率接近80%。然而，早期死亡率仍然是一个重要的限制因素，血液学家必须意识到将新诊断的急性早幼粒细胞白血病作为医疗紧急情况进行治疗的重要性。
