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Cancer Invest. 2011 Jun;29(5):360-4. doi: 10.3109/07357907.2011.584587.

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

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University Research Institute for the Study and Treatment of Childhood Genetic and Malignant Diseases, Hematology/Oncology Unit, First Department of Pediatrics, Aghia Sophia Children's Hospital, University of Athens, Athens, Greece.


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.

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