Frequent mutations in SH2D1A (XLP) in males presenting with high‐grade mature B‐cell neoplasms. Issue 9 (15th April 2013)

• Record Type: Journal Article
• Authors: Sandlund, J.T.; Shurtleff, S.A.; Onciu, M.; Horwitz, E.; Leung, W.; Howard, V.; Rencher, R.; Conley, M.E.
• Is Part Of: Pediatric blood & cancer. Volume 60:Issue 9(2013:Sep.)
• Page Start: E85
• Page End: E87
• Publication Date: 2013-04-15
• Subjects: Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.24525
• Languages: English
• ISSNs: 1545-5009

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="pbc24525-sec-0001" sec-type="section"> <p>X‐linked lymphoproliferative syndrome (XLP) is caused by mutations in <italic>SH2D1A</italic>, and is associated with overwhelming infectious mononucleosis, aplastic anemia, hypogammaglobulinemia, and B‐cell lymphomas. However, the frequency of <italic>SH2D1A</italic> 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. Pediatr Blood Cancer 2013;160:E85–E87. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>