X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia.

Akihiro Hoshino, Yusuke Okuno, Masahiro Migita, Hideki Ban, Xi Yang, Nobutaka Kiyokawa, Yuichi Adachi, Seiji Kojima, Osamu Ohara, Hirokazu Kanegane

Journal: Journal of clinical immunology 2015;35(2):108-11

PMID: 25591849

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Abstract

X-linked agammaglobulinemia (XLA) is clinically characterized by reduced number of peripheral B cells and diminished levels of serum immunoglobulins, and caused by a mutation in the Bruton's tyrosine kinase (BTK) gene, which play a pivotal role in signal transduction of pre-B-cell receptor (BCR) and BCR. B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is the most common malignancy in children, and it may be associated with gene alterations that regulate B-cell development. Here we described a first case of XLA associated BCP-ALL. The whole-exome sequencing revealed a somatic mutation in MLL2 in the sample from the onset of BCP-ALL. This study suggests that the alterations of BTK and MLL2 synergistically function as leukemogenesis.

Address: Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.

DOI: 10.1007/s10875-015-0127-7

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https://doi.org/10.1007/s10875-015-0127-7

MeSH Terms: Agammaglobulinaemia Tyrosine Kinase, Agammaglobulinemia, Amino Acid Substitution, Child, Chromosome Mapping, Exome, Genetic Diseases, X-Linked, Genotype, High-Throughput Nucleotide Sequencing, Humans, Immunophenotyping, Male, Mutation, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Protein-Tyrosine Kinases, Treatment Outcome