Predisposing germline mutations in high hyperdiploid acute lymphoblastic leukemia in children

High hyperdiploidy (HD) is the most common cytogenetic subtype of childhood acute lymphoblastic leukemia (ALL), and a higher incidence of HD has been reported in ALL patients with congenital cancer syndromes. We assessed the frequency of predisposing germline mutations in 57 HD‐ALL patients from the...

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Bibliographic Details
Published in:Genes chromosomes & cancer 2019-10, Vol.58 (10), p.723-730
Main Authors: de Smith, Adam J., Lavoie, Geneviève, Walsh, Kyle M., Aujla, Sumeet, Evans, Erica, Hansen, Helen M., Smirnov, Ivan, Kang, Alice Y., Zenker, Martin, Ceremsak, John J., Stieglitz, Elliot, Muskens, Ivo S., Roberts, William, McKean‐Cowdin, Roberta, Metayer, Catherine, Roux, Philippe P., Wiemels, Joseph L.
Format: Article
Language:English
Subjects:
1-Phosphatidylinositol 3-kinase
Acute lymphoblastic leukemia
Adaptor Proteins, Signal Transducing - genetics
Adaptor Proteins, Signal Transducing - metabolism
AKT protein
ALL
Child
Children
Cytogenetics
Etiology
FLT3
Frameshift Mutation
GAB2
Gene Frequency
Genes
Genetic Predisposition to Disease
Germ-Line Mutation
germline mutations
HEK293 Cells
high hyperdiploidy
Humans
Leukemia
Lymphatic leukemia
MAP kinase
Mutation
Penetrance
Phosphorylation
Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics
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Summary:High hyperdiploidy (HD) is the most common cytogenetic subtype of childhood acute lymphoblastic leukemia (ALL), and a higher incidence of HD has been reported in ALL patients with congenital cancer syndromes. We assessed the frequency of predisposing germline mutations in 57 HD‐ALL patients from the California Childhood Leukemia Study via targeted sequencing of cancer‐relevant genes. Three out of 57 patients (5.3%) harbored confirmed germline mutations that were likely causal, in NBN, ETV6, and FLT3, with an additional six patients (10.5%) harboring putative predisposing mutations that were rare in unselected individuals (
ISSN:1045-2257
1098-2264
DOI:10.1002/gcc.22765