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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Agammaglobulinaemia Tyrosine Kinase
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Agammaglobulinemia / complications*
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Agammaglobulinemia / diagnosis
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Agammaglobulinemia / genetics*
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Agammaglobulinemia / therapy
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Amino Acid Substitution
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Child
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Chromosome Mapping
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Exome
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Genetic Diseases, X-Linked / complications*
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Genetic Diseases, X-Linked / diagnosis
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / therapy
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Genotype
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High-Throughput Nucleotide Sequencing
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Humans
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Immunophenotyping
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Male
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Mutation
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / diagnosis
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
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Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / etiology*
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Protein-Tyrosine Kinases / genetics
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Treatment Outcome
Substances
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Protein-Tyrosine Kinases
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Agammaglobulinaemia Tyrosine Kinase
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BTK protein, human
Supplementary concepts
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Bruton type agammaglobulinemia