Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML
Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML
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DOI：
10.1038/sj.leu.2402871
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发表时间：
2003-04-01
期刊：
影响因子：
11.4
通讯作者：
Shiku, H
中科院分区：
文献类型：
--
作者：
Nishii, K;Usui, E;Shiku, H
t(8;21)（q22;q22）是与急性髓性白血病（AML）相关的最常见的核型异常，尤其是在FAB M2中。临床上，这种类型的AML经常表现为嗜酸性粒细胞增多，并且在常规化疗下有很高的完全缓解率。t(8;21) AML还经常伴有额外的核型畸变，如性染色体的缺失；然而，尚不清楚这些畸变是否会改变t(8;21) AML的生物学和临床特征。为了研究这一问题，94例t(8;21) AML患者根据其额外的核型畸变进行分类，在3例以上的病例中检测到，然后将形态学特征、表型、细胞因子受体表达和临床特征与没有其他额外核型的t(8;21) AML进行比较。t（8;21）性染色体缺失27例（29.3%），9号染色体异常10例（10.6%）；然而，在形态学和表型特征方面，与没有其他额外核型的t(8;21) AML没有观察到差异。三组患者的临床结果也无显著差异。另一方面，3例（3.2%）发现4三体，这些细胞CD19 （P=0.06）和IL-7受体（P=0.05）的表达较低，CD33 （P=0.13）、CD18 （P=0.03）和CD56 （P=0.03）的表达高于t(8;21) AML（无附加核型）。此外，所有3例4型三体AML患者骨髓中均未出现嗜酸性粒细胞增多，并在2.4年内死亡。这些观察结果表明，额外的核型畸变，t（8;21）与4三体是罕见的，但它可能构成t(8;21) AML的一个独特亚型。
t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), especially in FAB M2. Clinically, this type of AML often shows eosinophilia and has a high complete remission rate with conventional chemotherapy. t(8;21) AML is also frequently associated with additional karyotypic aberrations, such as a loss of the sex chromosome; however, it is unclear whether these aberrations change the biological and clinical characteristics of t(8;21) AML. To investigate this issue, 94 patients with t(8;21) AML were categorized according to their additional karyotypic aberrations, which were detected in more than three cases, and then morphologic features, phenotypes, expression of cytokine receptors, and clinical features were compared to t(8;21) AML without other additional aberrant karyotypes. t(8;21) AML with loss of the sex chromosome and abnormality of chromosome 9 were found in 27 cases (29.3%) and 10 cases (10.6%), respectively; however, no differences were observed from the t(8;21) AML without other additional karyotypes in terms of morphological and phenotypic features. There was also no significant difference in the clinical outcome among these three groups. On the other hand, trisomy 4 was found in three cases (3.2%) and these cells showed low expressions of CD19 (P=0.06) and IL-7 receptor (P=0.05), and high expressions of CD33 (P=0.13), CD18 (P=0.03), and CD56 (P=0.03) when compared to t(8;21) AML without additional karyotypes. Moreover, all three t(8;21) AML cases with trisomy 4 did not show eosinophilia in their bone marrow and died within 2.4 years. These observations suggest that additional karyotypic aberration, t(8;21) with trisomy 4 is rare, but it may constitute a distinctive subtype of t(8;21) AML.