title: Frequent mutations in SH2D1A (XLP) in males presenting with high-grade mature B-cell neoplasms.
abstract: X-linked lymphoproliferative syndrome (XLP) is caused by mutations in SH2D1A, and is associated with overwhelming infectious mononucleosis, aplastic anemia, hypogammaglobulinemia, and B-cell lymphomas. However, the frequency of SH2D1A mutations in males who present with B NHL is unknown. Five cases of XLP were diagnosed among 158 males presenting with B NHL (approximately 3.2%). Four of the patients had two episodes of B NHL and one had a single episode of B NHL followed by aggressive infectious mononucleosis. Prospective screening for XLP in males with B-cell lymphoma at the time of initial diagnosis should be considered.
authors.affiliation: Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA. john.sandlund@stjude.org
authors.forename: J T
authors.initials: JT
authors.lastname: Sandlund
authors.forename: S A
authors.initials: SA
authors.lastname: Shurtleff
authors.forename: M
authors.initials: M
authors.lastname: Onciu
authors.forename: E
authors.initials: E
authors.lastname: Horwitz
authors.forename: W
authors.initials: W
authors.lastname: Leung
authors.forename: V
authors.initials: V
authors.lastname: Howard
authors.forename: R
authors.initials: R
authors.lastname: Rencher
authors.forename: M E
authors.initials: ME
authors.lastname: Conley
mesh_terms: D005500:Follow-Up Studies; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D016403:Lymphoma, Large B-Cell, Diffuse; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D008297:Male; D009154:Mutation; D012042:Registries; D012189:Retrospective Studies; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein
keywords: B cells; EBV; XLP; lymphoma