Adams Julia, Nassiri Mehdi
From the Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis.
Arch Pathol Lab Med. 2015 Oct;139(10):1308-13. doi: 10.5858/arpa.2013-0345-RS.
The majority of patients with acute promyelocytic leukemia (APL) manifest the t(15;17)(q24.1;q21.2) translocation; however, a minor but significant proportion of patients with APL harbor complex, cryptic, or variant translocations, which typically involve RARA. With the exception of ZBTB16/RARA, these variants have similar morphologic and immunophenotypic features as classic APL. Study of the variant forms of APL not only gives insight into the pathogenesis of APL but also allows us to understand the mechanism of retinoid therapy. It is important to identify these cryptic and variant translocations because certain variants, including ZBTB16/RARA and STAT5B/RARA, are resistant to treatment with all-trans retinoic acid, arsenic trioxide, and anthracyclines.
大多数急性早幼粒细胞白血病（APL）患者表现出t(15;17)(q24.1;q21.2)易位；然而，一小部分但相当数量的APL患者存在复杂、隐匿或变异易位，这些易位通常涉及RARA。除ZBTB16/RARA外，这些变异型与经典APL具有相似的形态学和免疫表型特征。对APL变异型的研究不仅有助于深入了解APL的发病机制，还能让我们理解维甲酸治疗的机制。识别这些隐匿和变异易位很重要，因为某些变异型，包括ZBTB16/RARA和STAT5B/RARA，对全反式维甲酸、三氧化二砷和蒽环类药物治疗耐药。
