Analysis of somatic hypermutations of immunoglobulin gene rearrangements in childhood acute lymphoblastic leukemia

Maria Braoudaki , Katerina Katsibardi (1) , Véronique Giudicelli (2) , Kalliopi Karamolegou (1) , Ch Papathanassiou (1) , Marie-Paule Lefranc (2) , Fotini Tzortzatou-Stathopoulou (1)

1 University of Athens Medical School [Athens]
2 IGH - Institut de génétique humaine

The current study investigated the presence, frequency, and status of somatic hypermutations as well as their role in children with B lineage ALL. The obtained sequences were analyzed using IMGT/V-QUEST. Totally, 150 IGH sequences were evaluated; 139 from the 111 patients at the time of diagnosis and 11 from 8/111 patients at the time of relapse. The findings of the current report revealed the presence of somatically mutated V genes in childhood B lineage ALL. A higher frequency of somatic hypermutations was noted in unproductive rearrangements and was generally attributed to nucleotide mutation type, region, and IGHV gene subgroup biases.

Keywords: Somatic mutations; Immunoglobulin rearrangements; IMGT; Acute leukemia

Domains: Genetics

Maria Braoudaki, Katerina Katsibardi, Véronique Giudicelli, Kalliopi Karamolegou, Ch Papathanassiou, et al.. Analysis of somatic hypermutations of immunoglobulin gene rearrangements in childhood acute lymphoblastic leukemia. Cancer Investigation, 2011, 29 (5), pp.360-364. ⟨10.3109/07357907.2011.584587⟩. ⟨hal-00616407⟩