Multiple colorectal neoplasms in X-linked agammaglobulinemia.
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.
Brosens
Lodewijk A A
LA
Department of Pathology, University Medical Center, Utrecht, The Netherlands. L.A.A.Brosens@umcutrecht.nl
Tytgat
Kristien M A J
KM
Morsink
Folkert H M
FH
Sinke
Richard J
RJ
Ten Berge
Ineke J M
IJ
Giardiello
Francis M
FM
Offerhaus
G Johan A
GJ
Keller
Josbert J
JJ
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
D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human