科学家将基因与儿童白血病的遗传基因连接
领导的研究小组发现，MSK在儿童急性淋巴细胞白血病的某些情况下，可能会导致遗传突变的基因称为ETV6。
集锦 这是第二次突变的MSK和圣裘德'团队发现；S。ETV6突变在某些血液肿瘤中起到了作用。 在2个家族中发现了一种儿童白血病的基因突变。 医生可能会在体外受精的家庭中筛选突变。在纪念斯隆-凯特琳和圣裘德'者；儿童&rsquo；的研究院（SJCRH）在孟菲斯发现了一种新的基因突变与遗传风险的儿童急性淋巴细胞白血病（ALL）相关。所有的儿童都是最常见的儿童癌症，他们兄弟姐妹的孩子患疾病的风险更高，他们自己的发展。
突变是在一个基因被称为ETV6，这已经是众所周知的发挥作用的癌症的淋巴细胞，在血液中循环的免疫细胞。研究人员观察到在同一个家庭的几个孩子照顾白血病突变在纪念斯隆-凯特琳和另一个家庭治疗SJCRH。
遗传性白血病
&ldquo；现在是第二综合征白血病易感性我们描述了最近，这表明有儿童白血病是遗传的很大比例，&rdquo；Kenneth Offit说，首席在MSK的临床遗传学服务和新文件披露这些研究的资深作者，发表在研究人员从SJCRH杂志PLoS遗传学。
These findings suggest that many cases of childhood leukemia are inherited。联合msk-sjcrh团队此前发现的另一个白血病综合征相关的基因称为PAX5。 For the current study, Dr。 Offit’s team at MSK carried out a series of experiments demonstrating that the ETV6 mutation observed in leukemia-prone families caused significant changes in the function of the gene。
这个ETV6mutation had been known to occur in leukemic cells, but until now researchers believed it happened later in the development of the cancer — called a somatic change — and was not inherited at birth。 “What was particularly interesting about the families carrying the ETV6 mutations is that many did not have leukemia but had only low levels of platelets,” says Sabine Topka, a research fellow in Dr。 Offit’s lab who was one of the lead authors。 “This implies that other environmental or genetic factors also may play a role in those predisposed to leukemia。”
“This study is another fascinating example of the same gene alteration causing different symptoms in a patient — called pleiotrophism,” says MSK geneticist Vijai Joseph, another one of the lead authors。 “In this case it leads to increased genetic risk for cancer。”
This discovery continues to provide insight into inherited causes of childhood leukemia。
Kenneth Offit
遗传学家
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了解遗传性白血病
“This discovery continues to provide insight into inherited causes of childhood leukemia,” Dr。 Offit said。 “It also allows us to prevent such leukemias in future generations by screening for these genes prenatally。” Prospective parents in families known to carry the gene mutation can seek in vitro fertilization that includes preimplantation genetic diagnosis, a technique that can identify embryos with genetic defects before pregnancy is attempted。
正在进行的研究将探索继承的频率ETV6mutations, as well as other genetic and nongenetic factors that modify its effect on leukemia risk。
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