Open AccessClinical impact of genomic analysis in children with B-acute lymphoblastic leukemia: A pilot study in Slovakia
Author(s) -
Annija Vaska,
Miroslava Makohusová,
Karla Plevová,
Katarína Skalická,
M. Cermak,
F. Chovanec,
Oksana Fabri,
Peter Švec,
Alexandra Kolenová
Publication year - 2019
Publication title -
neoplasma
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.628
H-Index - 50
eISSN - 1338-4317
pISSN - 0028-2685
DOI - 10.4149/neo_2019_190328n274
Subject(s) - snp , medicine , lymphoblastic leukemia , oncology , clinical significance , disease , risk stratification , single nucleotide polymorphism , clinical practice , bioinformatics , leukemia , genotype , biology , genetics , gene , family medicine
Acute lymphoblastic leukemia (ALL) belongs to a genetically heterogeneous disease associated with a wide range of chromosomal and molecular changes. Determining these changes at the time of diagnosis can help the therapeutic decision, and contributes to the prediction of patients' clinical outcomes. A part of B-ALL (B-other) lacks cytogenetic abnormalities with clinical relevance for prognosis. Our first goal was to retrospectively review genetic results of patients from 2013-2017 and identify number of B-other patients in Slovak population. The second goal was to implement single nucleotide polymorphism (SNP) array analysis to improve the diagnosis and risk stratification. In this study we reviewed 133 B-ALL patients. We found that nearly 40% of them (52 cases) belonged to the B-other ALL group. Eighteen B-other ALL patients were subjected to the analysis using SNP-array. Overall, we identified 126 cytogenomic changes and in 4 patients the SNP array revealed clinically relevant markers of adverse prognosis and high relapse risk. Integrating identified genetic changes into clinical practice can bring improvement of prognosis assessment for children with ALL in Slovakia.