Department of Hematology, School of Medicine, Fujita Health University, Toyoake, Aichi, Japan.
Blood. 2010 Nov 18;116(20):4274-83. doi: 10.1182/blood-2010-01-264432. Epub 2010 Aug 31.
The majority of acute promyelocytic leukemia (APL) cases are characterized by the presence of a promyelocytic leukemia-retinoic acid receptor alpha(RARA) fusion gene. In a small subset, RARA is fused to a different partner, usually involved in regulating cell growth and differentiation. Here, we identified a novel RARA fusion transcript, BCOR-RARA, in a t(X;17)(p11;q12) variant of APL with unique morphologic features, including rectangular and round cytoplasmic inclusion bodies. Although the patient was clinically responsive to all-trans retinoic acid, several relapses occurred with standard chemotherapy and all-trans retinoic acid. BCOR is a transcriptional corepressor through the proto-oncoprotein, BCL6, recruiting histone deacetylases and polycomb repressive complex 1 components. BCOR-RARA was found to possess common features with other RARA fusion proteins. These included: (1) the same break point in RARA cDNA; (2) self-association; (3) retinoid X receptor alpha is necessary for BCOR-RARA to associate with the RARA responsive element; (4) action in a dominant-negative manner on RARA transcriptional activation; and (5) aberrant subcellular relocalization. It should be noted that there was no intact BCOR found in the 45,-Y,t(X;17)(p11;q12) APL cells because they featured only a rearranged X chromosome. These results highlight essential features of pathogenesis in APL in more detail. BCOR appears to be involved not only in human congenital diseases, but also in a human cancer.
大多数急性早幼粒细胞白血病 (APL) 病例的特征是存在早幼粒细胞白血病-维甲酸受体 alpha(RARA)融合基因。在一小部分病例中,RARA 与不同的伴侣融合,通常涉及调节细胞生长和分化。在这里,我们在 APL 的 t(X;17)(p11;q12) 变体中鉴定出一种新型 RARA 融合转录本,BCOR-RARA,其具有独特的形态特征,包括矩形和圆形细胞质包涵体。尽管患者对全反式维甲酸具有临床反应,但在标准化疗和全反式维甲酸治疗后仍发生了几次复发。BCOR 通过原癌蛋白 BCL6 作为转录共抑制因子,募集组蛋白去乙酰化酶和多梳抑制复合物 1 成分。BCOR-RARA 被发现具有与其他 RARA 融合蛋白相同的特征。这些特征包括:(1)RARA cDNA 中的相同断裂点;(2)自身缔合;(3)视黄酸 X 受体 alpha 对于 BCOR-RARA 与 RARA 反应元件结合是必需的;(4)以显性负性方式作用于 RARA 转录激活;和(5)异常的亚细胞重新定位。应当注意的是,在 45,-Y,t(X;17)(p11;q12)APL 细胞中没有发现完整的 BCOR,因为它们仅具有重排的 X 染色体。这些结果更详细地突出了 APL 发病机制的基本特征。BCOR 似乎不仅参与人类先天性疾病,而且还参与人类癌症。