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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

Sandlund JT,Shurtleff SA,Onciu M,Horwitz E,Leung W,Howard V,Rencher R,Conley ME

doi

10.1002/pbc.24525

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

E85-7

issue

9

eissn

1545-5009

issn

1545-5017

journal_volume

60

pub_type

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