Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7
Recurrence of OTT-MAL fusion in t(1;22) of infant AML-M7
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DOI：
10.1002/gcc.1208
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发表时间：
2002-01-01
影响因子：
3.7
通讯作者：
Berger, R
中科院分区：
文献类型：
--
作者：
Mercher, T;Coniat, MB;Berger, R
易位t(1;22)（p13;q13）与发生在婴儿中的一种特殊亚型急性巨核细胞白血病（M7）有关。我们最近描述了一种融合基因，OTT-MAL，由这种易位引起。我们现在报告了另外三个病例，并表明这种基因融合存在于迄今为止研究的所有5例病例中。对两个易位断点的核苷酸序列分析表明，这种易位的发生存在非同源末端连接机制，并揭示了OTT基因中一个非规范的拓扑异构酶ii样一致序列。本工作中描述的FISH和PCR技术可用于鉴定与M7相关的t（1;22）。(C) 2002 Wiley-Liss, Inc。
Translocation t(1;22)(p13;q13) is associated with a peculiar subtype of acute megakaryocytic leukemia (M7) occurring in infants. We have recently characterized a fusion gene, OTT-MAL, resulting from this translocation. We now report three additional cases and show that this gene fusion is present in all five t(1;22) cases studied to date. Nucleotide sequence analysis of two translocation breakpoints suggests a nonhomologous end joining mechanism in the genesis of this translocation and reveals a noncanonical topoisomerase II-like consensus sequence within the OTT gene. FISH and PCR techniques described in this work are useful for identifying t(1;22) associated with M7. (C) 2002 Wiley-Liss, Inc.