SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24.
SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24.
复制标题
DOI：
--
复制
发表时间：
2002-01
期刊：
影响因子：
11.2
通讯作者：
R. Ono;T. Taki;T. Taketani;H. Kawaguchi;M. Taniwaki;T. Okamura;K. Kawa;R. Hanada;Miyuki Kobayashi;Y. Hayashi
中科院分区：
文献类型：
--
作者：
R. Ono;T. Taki;T. Taketani;H. Kawaguchi;M. Taniwaki;T. Okamura;K. Kawa;R. Hanada;Miyuki Kobayashi;Y. Hayashi
t（X;11）是儿童急性髓细胞白血病（AML）的一种复发性易位。我们发现，在三个新生婴儿AML中，11 q23上的MLL基因与Xq 24上的SEPTIN 6基因融合，Xq 24是小鼠Septin 6的人类同源物，伴有复杂的染色体异常，涉及11 q23和Xq 22 -24。SEPTIN 6由至少12个外显子组成，通过选择性剪接预测其编码至少两种蛋白质。在胎儿肺、肝和脑、除脑外的所有成人组织以及急性淋巴细胞白血病和AML细胞系中同时检测到约2.3-、3.1-和4.6-kb SEPTIN 6转录物的表达。然而，在胎儿心脏和成人大脑中单独检测到约2.7 kb的转录物的表达。SEPTIN 6蛋白与septin家族成员包括CDCREL 1和AF 17 q25/MSF同源，其与MLL产生融合产物。MLL-SEPTIN 6融合蛋白包含几乎整个septin蛋白，类似于MLL-CDCREL 1和MLL-AF 17 q25/MSF。值得注意的是，所有三名患者都被诊断为M1或M2。结合目前的结果和文献表明，具有MLL-SEPTIN 6融合基因的AML是婴儿AML的一个亚组，其分化为髓系，尽管具有其他MLL融合基因的AML能够分化为粒单核细胞或单核细胞系。
t(X;11) is a recurrent translocation in pediatric acute myeloid leukemia (AML). We showed that the MLL gene on 11q23 was fused to the SEPTIN6 gene on Xq24, a human homologue to mouse Septin6, in three de novo infant AML with complex chromosomal abnormalities involving 11q23 and Xq22-24. SEPTIN6 consisted of at least 12 exons and was predicted to encode at least two types of proteins by alternative splicing. Expression of approximately 2.3-, 3.1-, and 4.6-kb SEPTIN6 transcripts was simultaneously detected in fetal lung, liver, and brain, in all of the adult tissues except brain, and in acute lymphoblastic leukemia and AML cell lines. However, the expression of an approximately 2.7-kb transcript was detected alone in fetal heart and adult brain. The SEPTIN6 protein is homologous to septin family members including CDCREL1 and AF17q25/MSF, which generate fusion products with MLL. The MLL-SEPTIN6 fusion proteins contain almost the entire septin protein, similar to MLL-CDCREL1 and MLL-AF17q25/MSF. Notably, all three of the patients were diagnosed with M1 or M2. Combined present results and literatures suggest that AML with the MLL-SEPTIN6 fusion gene is a subset of infant AML, which differentiate into the myeloid lineage, although AML with other MLL fusion genes is capable of differentiating into the myelomonocytic or monocytic lineage.