作者
Nicolas Duployez, Laura A Jamrog, Vincent Fregona, Camille Hamelle, Laurène Fenwarth, Sophie Lejeune, Nathalie Helevaut, Sandrine Geffroy, Aurélie Caillault, Alice Marceau-Renaut, Stéphanie Poulain, Catherine Roche-Lestienne, Laetitia Largeaud, Naïs Prade, Stéphanie Dufrechou, Sylvie Hébrard, Céline Berthon, Brigitte Nelken, José Fernandes, Céline Villenet, Martin Figeac, Bastien Gerby, Eric Delabesse, Claude Preudhomme, Cyril Broccardo
发表日期
2021/3/11
期刊
Blood, The Journal of the American Society of Hematology
卷号
137
期号
10
页码范围
1424-1428
出版商
American Society of Hematology
简介
In recent years, through whole genome analyses, convincing evidence for the contribution of genetic predisposition to childhood B-cell precursor-acute lymphoblastic leukemia (BCP-ALL) due to altered PAX5 has been provided. A recurrent mutation p. Gly183Ser affecting the octapeptide domain has been described in three unrelated families and a p. Arg38His mutation affecting the DNA-binding paired domain reported in another one.
We strengthen here the assumption of the inherited character of familial BCP-ALL by identifying the PAX5 p. Arg38His mutation in a family in which the three children developed BCP-ALL. One relapsed two years after his initial diagnosis and was allografted with his brother’s cells before the latter developed BCP-ALL. The patient allografted relapsed later from donor-related cells.
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N Duployez, LA Jamrog, V Fregona, C Hamelle… - Blood, The Journal of the American Society of …, 2021