1. Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.
- Author
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Veerapandiyan A, Chinn IK, Schoch K, Maloney KA, and Shashi V
- Subjects
- Abnormalities, Multiple genetics, Abnormalities, Multiple pathology, Humans, Lymph Nodes metabolism, Lymph Nodes pathology, Male, Skin metabolism, Skin pathology, Syndrome, Young Adult, BRCA2 Protein genetics, Chromosome Deletion, Chromosomes, Human, Pair 22 genetics, Mutation, Pseudolymphoma pathology
- Abstract
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., (Copyright © 2010 Elsevier Masson SAS. All rights reserved.)
- Published
- 2011
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