Diagnosis of acute lymphoblastic leukemia in children using whole genome sequencing

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Whole genome sequencing (WGS) has made it possible to map the genetic mass with great accuracy and detail. Provides an increased understanding of leukemia. In the study, WGS and standard routine diagnosis in ALL were compared to investigate whether WGS could replace current approaches. Analyzes were performed on the diagnostic bone marrow material of 88 patients.

Results showed that WGS was able to identify all clinically relevant genetic abnormalities. In addition, through the WGS, we were able to identify genetic alterations important for the development of leukemia in 35 of 39 patients who previously lacked information to assign to an at-risk group, he says. Fatemeh RezaeiPhD student in the Clinical Genetics group and first author of the study.

The study also confirmed complete agreement between the results of routine diagnosis and the results of WGS. Furthermore, the authors identified another significant but difficult-to-detect genetic aberration with a dedicated bioinformatics tool. The promising results open up new possibilities for the genetic diagnosis of ALL in order to be able to tailor treatment to the individual and thus contribute to the avoidance of both undertreatment and overtreatment.

The study was carried out within the Hematology Working Group in Genomic Medicine Sweden, in collaboration with SciLifeLab Clinical Genomics, and was funded by funds from, among others, the Swedish Science for Life Laboratory’s Genome Program (supported by the Knut and Alice Wallenberg Foundation), and the Children’s Cancer Fund. and the Swedish Research Council under ERA PerMed.

Publishing

Feasibility of using whole genome sequencing as a single diagnostic method to screen for genetic aberrations in pediatric B-cell acute lymphoblastic leukemia. Rezayee F, Eisfeldt J, Skaftason A, Öfverholm I, Sayyab S, Syvänen AC, Maqbool K, Lilljebjörn H, Johansson B, Olsson-Arvidsson L, Pietras CO, Staffas A, Palmqvist L, Fioretos T, Cavelier L, Fogstrand Nordlund J and Wirta V, Rosenquist R, and Barbany G (2023) Frontiers in Oncology DOI = 10.3389/fonc.2023.1217712