Blood: PaX5 mutation in the embryo line of familial B-cell premeditation-acute lymphoblastic leukemia.

In recent years, through genome-wide sequencing analysis, there has been a great deal of convincing evidence that the role of genetic susceptivity in children's B-cell prelub-acute lymphoblastic leukemia (BCP-ALL) is caused by the PAX5 gene mutation.
a relapsed mutation in the PAX5 gene that affects the octapeptide domain, p.Gly183Ser was reported in three unrelated family groups, while the p.Arg38His mutation affecting the DNA binding pairing domain was reported in another family.
in this study, Duployez and others detected PAX5 p.Arg38His mutations in a family with three children with BCP-ALL, reinforcing the hypothesis of family BCP-ALL genetic characteristics.
one of the children relapsed two years after the initial diagnosis and received an allogeneic transplant from his brother's hematopoietic stem cells, which was later diagnosed as BCP-ALL.
the child later relapsed from the transplanted cells.
With mouse gene transplantation, p.Arg38His expression does not disrupt the implantation of transducted Pax5-/-pro-B cells and can make individuals susceptible to BCP-ALL, unlike pax5-/-pro-B cells saved by wild PAX5.
through functional and molecular analysis, the researchers demonstrated that p. Arg38His, as a subsized variant, alters the expression pattern of the PAX5 target gene.
the importance of transcription disorders, particularly genes involved in B-cell differentiation in familial BCP-ALL.
, this study proves that the genetic basis of BCP-ALL susceptibleness is underestimated and should be considered before any familial allogeneic transplants are performed.
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