Clinical, immunophenotypic, cytogenetic, and molecular genetic features in 117 adult patients with mixed-phenotype acute leukemia defined by WHO-2008 classification
Clinical, immunophenotypic, cytogenetic, and molecular genetic features in 117 adult patients with mixed-phenotype acute leukemia defined by WHO-2008 classification
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117 名按 WHO-2008 分类定义的混合表型急性白血病成年患者的临床、免疫表型、细胞遗传学和分子遗传学特征
DOI：
10.3324/haematol.2012.064485
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发表时间：
2012-11-01
期刊：
影响因子：
--
通讯作者：
Chen, Suning
中科院分区：
文献类型：
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作者：
Yan, Lingzhi;Ping, Nana;Chen, Suning
在4,780例成人急性淋巴细胞/髓系白血病患者中，符合WHO 2008标准的混合型急性白血病患者117例(2.4%)，其中B淋巴系+髓系(n=)，T淋巴系+髓系(n=38)，B+T淋巴系(n=14)，三联体(n=1)。核型异常59例，分别为：复合体(22/92)，t(9；22)(q34；q11)(14/92)，单体7(7/92)，多体21(7/92)，t(v；11q23)(4/92)，t(10；11)(p15；q21)(3/92)，1例(T+My)。在研究了17个基因的常见急性白血病相关突变后，发现31例患者中有12例(39%)至少有一个突变，分类为：IKZF1缺失(4/31)，以及EZH2(3/31)、ASXL1(3/31)、ETV6(2/31)、NOTCH1(1/31)和TET2(1/31)突变。ARRAY-CGH显示CDKN2A(4/12)、IKZF1(3/12)、MEF2C(2/12)、BTG1(2/12)以及BCOR、EBF1、K-RAS、LEF1、MBNL1、PBX3和RUNX1的基因组缺失(各12例中的1例)。我们的结果表明，混合表型急性白血病是一个复杂的实体，具有不同的临床、免疫表型、细胞遗传学和分子遗传学特征。
Among 4,780 consecutive adult acute lymphoblastic/myeloblastic leukemia patients, we identified 117 (2.4%) patients with mixed-phenotype acute leukemia fulfilling WHO 2008 criteria; these were classified as: Blymphoid+ myeloid (n=64), T-lymphoid+myeloid (n=38), B+T-lymphoid (n=14) and trilineage (n=1). Of 92 patients karyotyped, 59 were abnormal and were classified as: complex (22 of 92), t(9;22)(q34;q11) (14 of 92), monosomy 7 (7 of 92), polysomy 21 (7 of 92), t(v;11q23) (4 of 92), t(10;11)(p15;q21) (3 of 92), while STIL-TAL1 fusion was detected in one (T+My) patient. After investigating common acute leukemia-related mutations in 17 genes, 12 of 31 (39%) patients were found to have at least one mutation, classified with: IKZF1 deletion (4 of 31), and EZH2 (3 of 31), ASXL1 (3 of 31), ETV6 (2 of 31), NOTCH1 (1 of 31), and TET2 (1 of 31) mutations. Array-CGH revealed genomic deletions of CDKN2A (4 of 12), IKZF1 (3 of 12), MEF2C (2 of 12), BTG1 (2 of 12), together with BCOR, EBF1, K-RAS, LEF1, MBNL1, PBX3, and RUNX1 (one of 12 each). Our results indicate that mixed-phenotype acute leukemia is a complex entity with heterogeneous clinical, immunophenotypic, cytogenetic, and molecular genetic features.