Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.

Journal Article (Journal Article)

We report an adult male with 22q11.2 deletion syndrome and a germline BRCA2 mutation who developed T-cell monoclonal lymphoid proliferation involving the skin and a polyclonal proliferation of a retroperitoneal lymph node without any identifiable infectious and inflammatory causes. This is the first report of reactive lymphoid hyperplasia in the setting of co-occurrence of 22q11.2 deletion syndrome and a BRCA2 mutation. Further cases with a similar presentation should be reported and studies should be directed to identify the possible mechanisms involved.

Full Text

Duke Authors

Cited Authors

  • Veerapandiyan, A; Chinn, IK; Schoch, K; Maloney, KA; Shashi, V

Published Date

  • 2011

Published In

Volume / Issue

  • 54 / 1

Start / End Page

  • 63 - 66

PubMed ID

  • 20887823

Electronic International Standard Serial Number (EISSN)

  • 1878-0849

Digital Object Identifier (DOI)

  • 10.1016/j.ejmg.2010.09.004


  • eng

Conference Location

  • Netherlands