Blood:ETV6 mediated molecular basis for acute lymphocytic leukemia susceptible in children.

There is growing evidence to support the genetic basis of susceptibility to acute lymphoblastic leukemia (ALL) in children.
, Nishii and other researchers have found recurrent ETV6 embryoline variants associated with THE risk, which together represent a new type of leukemia susceptible syndrome.
to understand the effects of the ETV6 mutation on the pathogenesis of ALL, Nishii and others described 32 cases of childhood leukemia caused by this rare syndrome.
34 non-synonym ETV6 embryoline mutations, 22 were identified as having impaired transcription inhibition activity, loss of DNA binding, and changes in nuclear positioning.
the wrong variant retains the dipolymerization effect with wild type (WT) ETV6, but has the potential leading negative effect.
whole transcription group and genome-wide sequencing analysis showed that the etogenic ETV6 mutation had a significant effect on leukemia transcription, and different ALL subtypes involved different somatic cell collaborative mutation patterns.
70% of ALL cases carrying actively impaired ETV6 embryo mutations were characterized by hyper-dipy nucleotype and characterized recurrent mutations in the NRAS, KRAS and PTPN11 genes.
, the remaining 30% of the cases were the duocytic leukemia genome, and the number of copies of somatic cells in PAX5 and ETV6 was missing very frequently, and its gene expression patterns were very similar to all that of the somatic cells ETV6-RUNX1 fusion.
two ETV6 embryoline variants can cause both AML and ALL, along with genetic damage specific to the leukemia genome genealogy.
in-body, ETV6 variants can affect tumor inhibition activity of specific molecular targets.
, the ETV6-mediated ALL susceptivity once again demonstrates the complex interaction between genetic and accessible genomic variations in the pathogenesis of leukemia.
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