title: Multiple colorectal neoplasms in X-linked agammaglobulinemia.
abstract: X-linked agammaglobulinemia (XLA) is a primary immunodeficiency disorder caused by germline mutation of the Bruton tyrosine kinase (BTK) gene. It is characterized by disturbed B-cell development, decreased immunoglobulin levels, and increased patient susceptibility to infection. An increased risk of cancer has been suggested, but most reports were described before the identification of BTK gene mutation as the cause of XLA. Here we describe 2 patients with genetically ascertained XLA and multiple colorectal neoplasms, supporting an increased risk of colorectal cancer in XLA and highlighting the potential importance of colorectal surveillance in these patients.
authors.affiliation: Department of Pathology, University Medical Center, Utrecht, The Netherlands. L.A.A.Brosens@umcutrecht.nl
authors.forename: Lodewijk A A
authors.initials: LA
authors.lastname: Brosens
authors.forename: Kristien M A J
authors.initials: KM
authors.lastname: Tytgat
authors.forename: Folkert H M
authors.initials: FH
authors.lastname: Morsink
authors.forename: Richard J
authors.initials: RJ
authors.lastname: Sinke
authors.forename: Ineke J M
authors.initials: IJ
authors.lastname: Ten Berge
authors.forename: Francis M
authors.initials: FM
authors.lastname: Giardiello
authors.forename: G Johan A
authors.initials: GJ
authors.lastname: Offerhaus
authors.forename: Josbert J
authors.initials: JJ
authors.lastname: Keller
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology*; D000236:Adenoma / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics / Q000473:pathology*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009378:Neoplasms, Multiple Primary / Q000235:genetics / Q000473:pathology*; D011505:Protein-Tyrosine Kinases / Q000235:genetics
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human