title: X-linked agammaglobulinemia associated with B-precursor acute lymphoblastic leukemia.
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.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama, Toyama, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hoshino
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Okuno
authors.forename: Masahiro
authors.initials: M
authors.lastname: Migita
authors.forename: Hideki
authors.initials: H
authors.lastname: Ban
authors.forename: Xi
authors.initials: X
authors.lastname: Yang
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Kiyokawa
authors.forename: Yuichi
authors.initials: Y
authors.lastname: Adachi
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Osamu
authors.initials: O
authors.lastname: Ohara
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019943:Amino Acid Substitution; D002648:Child; D002874:Chromosome Mapping; D059472:Exome; D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D009154:Mutation; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology*; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human