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以21三体为唯一细胞遗传学改变的儿童前体B细胞急性淋巴细胞白血病中ETV6/RUNX1融合基因的高发生率：1989 - 2005年诊断的北欧系列病例

High incidence of the ETV6/RUNX1 fusion gene in paediatric precursor B-cell acute lymphoblastic leukaemias with trisomy 21 as the sole cytogenetic change: a Nordic series of cases diagnosed 1989-2005.

作者信息

Karrman Kristina, Forestier Erik, Andersen Mette K, Autio Kirsi, Borgström Georg, Heim Sverre, Heinonen Kristina, Hovland Randi, Kerndrup Gitte, Johansson Bertil

机构信息

Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.

出版信息

Br J Haematol. 2006 Nov;135(3):352-4. doi: 10.1111/j.1365-2141.2006.06286.x. Epub 2006 Sep 11.

DOI:10.1111/j.1365-2141.2006.06286.x
PMID:16965388
Abstract

Trisomy 21 is common in ETV6/RUNX1-positive acute lymphoblastic leukaemia (ALL); both these aberrations are associated with a favourable outcome. The prognostic impact of +21 as a sole cytogenetic change could be due to a cryptic t(12;21)(p13;q22). The occurrence of ETV6/RUNX1 was determined in 66 childhood ALLs with an acquired +21 and a chromosome number <51. ETV6/RUNX1 was found in 45% of cases and in the majority (10/18; 56%) of ALLs with sole +21. Event-free survival did not differ between the t(12;21)-positive and -negative cases. Thus, the prognostic impact of +21 is not attributable to cryptic ETV6/RUNX1.

摘要

21三体在ETV6/RUNX1阳性急性淋巴细胞白血病（ALL）中很常见；这两种异常均与良好的预后相关。+21作为唯一的细胞遗传学改变的预后影响可能归因于隐匿性t(12;21)(p13;q22)。在66例获得性+21且染色体数<51的儿童ALL中确定了ETV6/RUNX1的发生情况。在45%的病例中发现了ETV6/RUNX1，在大多数（10/18；56%）仅+21的ALL中也发现了该基因。无事件生存期在t(12;21)阳性和阴性病例之间没有差异。因此，+21的预后影响并非归因于隐匿性ETV6/RUNX1。

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