Short report Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation q Aravindhan Veerapandiyan a , Ivan Kingyue Chinn b , Kelly Schoch a , Kristin A. Maloney a , Vandana Shashi a, * a Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA b Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA article info Article history: Received 24 February 2010 Accepted 21 September 2010 Available online 29 September 2010 Keywords: DiGeorge syndrome Immunodeficiency Lymphoma Malignancy abstract We report an adult male with 22q11.2 deletion syndrome and a germline BRCA2 mutation who devel- oped 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. Ó 2010 Elsevier Masson SAS. All rights reserved. 1. Introduction Common clinical manifestations of chromosome 22q11.2 dele- tion syndrome (22q11DS), also referred to as velocardiofacial syndrome or DiGeorge syndrome, include conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency and cognitive deficits [23,24]. Although most patients given the diagnosis of DiGeorge syndrome have a hemizygous 22q11.2 deletion [20], other causes for DiGeorge syndrome include maternal diabetes, fetal exposure to alcohol, deletions of chromo- some 10p and deletion of chromosome 17p13 [1,7e9]. Whether or not it is associated with a 22q11.2 deletion, DiGeorge syndrome is classified by immunologists into complete and partial forms depending on the absence or presence respectively, of thymic function [9]. The majority of individuals with 22q11DS has partial DiGeorge syndrome, with <1% having complete form. For the purpose of this paper, we will focus on the risk of malignancy/ lymphoid proliferation in individuals with a 22q11.2 deletion, rather than individuals who have DiGeorge syndrome due to other causes. An increased incidence (0.9%) of a variety of malignancies has been reported in patients with 22q11DS [12], particularly in patients with severe immune defects. Immune deficiency in 22q11DS is variable, ranging from profound deficiency including abnormalities in humoral immunity and autoimmunity to completely normal function [3,11,13,26]. BRCA2 (Breast cancer 2 gene) is a tumor suppressor gene located in chromosome 13q12.3. Mutations in this gene, in conjunction with BRCA1 , are responsible for the largest number of inherited breast cancers and a large proportion of ovarian cancers. Addi- tionally, individuals with BRCA2 mutations have an increased risk for lymphomas and leukemias [25,29]. Here we report an adult male with 22q11DS and a BRCA2 mutation who has had evidence of lymphoid hyperplasia in more than one tissue and we believe that co-occurrence of these may have predisposed him to the excessive lymphoid proliferation. This report would enhance clinicians’ awareness and may stimulate further research into the pathogenesis of such lymphoid proliferation. 2. Case report A 24 year-old gentleman, followed in the Genetics clinic for 22q11DS, developed a rash characterized by erythematous, pinpoint papules coalescing into plaques on the medial aspect of both thighs, with the right side more affected. A slight orangish hue was noted on these plaques, and a prominent varicosity was q Work Attributed to: Duke University Medical Center, Durham, NC, USA. * Corresponding author. Division of Medical Genetics, Department of Pediatrics, Box 103857, GSRB1, Duke University Medical Center, Durham, NC 27712, USA. Tel.: þ1 919 684 2036; fax: þ1 919 668 0414. E-mail address: vandana.shashi@duke.edu (V. Shashi). Contents lists available at ScienceDirect European Journal of Medical Genetics journal homepage: http://www.elsevier.com/locate/ejmg 1769-7212/$ e see front matter Ó 2010 Elsevier Masson SAS. All rights reserved. doi:10.1016/j.ejmg.2010.09.004 European Journal of Medical Genetics 54 (2011) 63e66