Abstract：
UNASSIGNED: t(8;21)(q22;q22) is the most frequent recurrent translocation in acute myeloid leukemia (AML) resulting in an in-frame fusion of RUNX1/RUNX1T1 that regulates various genes involved in the signaling pathways. This leukemogenic alteration is usually associated with a favorable clinical outcome. Variants of t(8;21) can be formed involving a third or fourth chromosome in ~3-4% of t(8;21)-AML. Due to the rarity of variant t(8;21), its clinicopathological features and prognostic significance are still unclear. Here we present three AML cases with cryptic rearrangements of chromosomes 8 and 21 without standard RUNX1/RUNX1T1.
UNASSIGNED: Conventional karyotyping and fluorescence in situ hybridization and/or spectral karyotyping of the pretreatment bone marrow aspirate of de novo AML patients were performed to delineate chromosomal abnormalities.
UNASSIGNED: We identified three cases with novel variants of t(8;21); der(13)t(8;21;13), isodicentric derivative 8 with chromosome 21[,+idicder(8)(q11.1)t(8;21)(q22;q11.1)] and der(21)t(8;12;21)(q22;q?;q22).
UNASSIGNED: AML with t(8;21)(q22;q22);RUNX1-RUNX1T1 forms a distinct WHO subcategory and hence the identification of variants or unusual translocations associated with t(8;21) deserves more attention. Contribution to the variant/ unusual t(8;21) database will further refine the risk stratification and may help to significantly advance the current treatment regimen.
UNASSIGNED: Conventional karyotyping and fluorescence in situ hybridization and/or spectral karyotyping of the pretreatment bone marrow aspirate of de novo AML patients were performed to delineate chromosomal abnormalities.
UNASSIGNED: We identified three cases with novel variants of t(8;21); der(13)t(8;21;13), isodicentric derivative 8 with chromosome 21[,+idicder(8)(q11.1)t(8;21)(q22;q11.1)] and der(21)t(8;12;21)(q22;q?;q22).
UNASSIGNED: AML with t(8;21)(q22;q22);RUNX1-RUNX1T1 forms a distinct WHO subcategory and hence the identification of variants or unusual translocations associated with t(8;21) deserves more attention. Contribution to the variant/ unusual t(8;21) database will further refine the risk stratification and may help to significantly advance the current treatment regimen.
摘要：
■t（8;21）（q22;q22）是急性髓细胞性白血病（AML）中最常见的复发性易位，导致RUNX1/RUNX1T1的框内融合，该融合调节涉及信号传导途径的各种基因。这种白血病发生改变通常与良好的临床结果相关。可以形成t(8;21)的变体,其涉及~3-4%的t(8;21)-AML中的第三或第四染色体。由于变体t(8；21)的稀有性，其临床病理特征和预后意义尚不清楚。在这里，我们介绍了三例AML病例，其染色体8和21的隐匿性重排没有标准RUNX1/RUNX1T1。
■对初发AML患者的预处理骨髓抽吸物进行常规核型分析和荧光原位杂交和/或光谱核型分析，以描绘染色体异常。
■我们确定了三个具有t（8;21）；der（13）t（8;21;13）新变体的病例，具有21号染色体的8号等中心衍生物[，+idicder(8)(q11.1)t(8;21)(q22;q11.1)]和der(21)t(8;12;21)(q22;q?;q22)。
■AML伴t(8;21)(q22;q22);RUNX1-RUNX1T1构成独特的WHO亚类，因此与t(8;21)相关的变异或异常易位的鉴定值得更多关注。对变异/异常t（8;21）数据库的贡献将进一步完善风险分层，并可能有助于显着推进当前的治疗方案。
■对初发AML患者的预处理骨髓抽吸物进行常规核型分析和荧光原位杂交和/或光谱核型分析，以描绘染色体异常。
■我们确定了三个具有t（8;21）；der（13）t（8;21;13）新变体的病例，具有21号染色体的8号等中心衍生物[，+idicder(8)(q11.1)t(8;21)(q22;q11.1)]和der(21)t(8;12;21)(q22;q?;q22)。
■AML伴t(8;21)(q22;q22);RUNX1-RUNX1T1构成独特的WHO亚类，因此与t(8;21)相关的变异或异常易位的鉴定值得更多关注。对变异/异常t（8;21）数据库的贡献将进一步完善风险分层，并可能有助于显着推进当前的治疗方案。
