Translocation (2;8)(p12;q24) associated with a cryptic t(12;21)(p13;q22) TEL/AML1 gene rearrangement in a child with acute lymphoblastic leukemia
Translocation (2;8)(p12;q24) associated with a cryptic t(12;21)(p13;q22) TEL/AML1 gene rearrangement in a child with acute lymphoblastic leukemia
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DOI：
10.1016/s0165-4608(00)00293-4
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发表时间：
2000-10-15
影响因子：
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通讯作者：
Gilliland, DG
中科院分区：
文献类型：
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作者：
Loh, ML;Samson, Y;Gilliland, DG
我们报告了一例儿童急性淋巴细胞白血病，同时发生典型与成熟B细胞或伯基特白血病相关的t(2:8)（p12;q24）和完全与B细胞前ALL相关的t(12;21)（p13; q22）。法、美、英分类淋巴母细胞为L2形态。然而，L2 ALL有非典型的形态逻辑发现，包括一些细胞的空泡化。淋巴细胞周期性酸希夫阳性，髓过氧化物酶阴性。免疫表型分析显示大部分淋巴细胞为TdT+。Cd10 + cd19 + cd20 -。这些特征与未成熟前b细胞白血病表型一致，同时具有成熟b细胞白血病的一些特征。常规细胞遗传学检测成熟b细胞白血病或Burkitt型白血病特征的A t(2;8)(p12;q24)(p12;q24)，未见其他细胞遗传学异常。然而，通过FISH和RT-PCR，诊断外周血和骨髓标本显示同时发生隐性t(12;21)（p13:q22）。这些易位同时发生在儿科患者中，可能与t(2;8)（p12;q24）和1(12;21)（p12;q22）白血病的发病机制有关。需要对涉及8q24上MYC位点易位的其他白血病病例进行分析，以确定与隐性t相关的频率（12;21）（p13;22），以及同时发生易位的预后意义。(C) 2000 Elsevier Science Inc.；FLU版权所有。
We report a case of childhood acute lymphoblastic leukemia with the simultaneous occurrence of a t(2:8)(p12;q24) typically associated with mature B cell or Burkitt leukemia, and a t(12;21)(p13; q22) exclusively associated with pre-B cell ALL. The lymphoblasts were characterized as L2 morphology by the French-American-British classification. However, there were atypical morpho logic findings for L2 ALL, including vacuolization in some cells. The lymphoblasts were periodic acid-Schiff positive and myeloperoxidase negative. Immunophenotypic analysis revealed that the majority of lymphoblasts were TdT+. CD10+, CD19+, CD20-. and cytoplasmic mu+ These features were consistent with an immature pre-B cell leukemia phenotype with some characteristics of a mature B-cell leukemia. A t(2;8)(p12;q24)(p12;q24), characteristic of mature B-cell leukemia or Burkitt type leukemia, was detected by conventional cytogenetics with no other cytogenetic abnormalities. However, diagnostic peripheral blood and bone marrow specimens demonstrated simultaneous occurrence of a cryptic t(12;21)(p13:q22) by both FISH and RT-PCR. The simultaneous occurrence of these translocations in a pediatric patient have implications for the pathogenesis of leukemias with t(2;8)(p12;q24) as well as 1(12;21)(p12;q22). Analysis of additional cases of leukemia with translocations involving the MYC locus on 8q24 will be required to determine the frequency of association with the cryptic t(12;21)(p13;22), and the prognostic significance of the simultaneous occurrence of the translocations. (C) 2000 Elsevier Science Inc. FLU rights reserved.