应用M-FISH技术检测急性髓细胞白血病的两种新的复杂变异性t(8;21)易位

目的：探讨M-FISH技术在检测复杂核型中的价值。方法：联合应用常规细胞遗传学技术和M-FISH检测2例伴有复杂核型异常的急性髓细胞白血病患者。结果：常规细胞遗传学技术检测2例急性髓细胞白血病患者的核型分别是：病例1为46。xy，der（8）t（8；21）。＋mar；病例2为46。xx．r（1）（p36p11）。del（5）（q22q34）der（8）t（8；21），＋mar。而应用M-FISH检测2例中的标记染色体分别是：t（8；21；8）和t（21；8；18；1）。例1经过1次诱导缓解治疗未获得完全缓解．并很快死亡。例2在4次不同方案的诱导缓解治疗后才获得完全缓解。结论：M-FISH是一种有效的检测复杂核型异常的方法。伴有复杂变异的t（8；21）核型的AML患者预后似乎不良。

Two novel complex variants of t(8;21) in acute myeloid leukemia resoluted by multiplex-FISH

Objective: To investigate the application of M-FISH in detecting the complex karyotypes.Methods: Performing conventional cytogenetics and M-FISH detected two AML patients with the complex karyotypes.Results: Conventional cytogenetics analysis showed a 46,xy,der(8)t(8;21), mar in case 1 and a 46,xx,r(1)(p36 p11),del(5)(q22q34),der(8)t(8;21), mar in case 2,respectively.M-FISH revealed the der(8) in both cases resulting from t(8;21)(q22;q22),the marker chromosome originating from t(8;21;8) in case 1 and t(21;8;18;1) in case 2,respectively.Case 1 didn't obtained complete remission(CR) and died shortly after the first induction chemotherapy.Case 2 attained CR only after four courses of induction therapy including different regimens.Conclusions: M-FISH is a useful technology in detecting the complex karyotypes and our results appear to imply a worse prognosis for AML patients with complex variants of t(8;21).