Institution: | 1.Laboratory of Cellular and Molecular Biology,University Hospital of Besan?on,Besan?on,France;2.UMR1098 Inserm/EFS-BFC/University of Franche-Comte,LabEx LipSTIC,Besan?on,France;3.Saint-Louis Hospital APHP and Hematology University Institute (IUH),University Paris-Diderot,Paris,France;4.Department of Pediatrics, San Gerardo Hospital,University of Milano-Bicocca,Monza,Italy;5.Department of Clinical Genetics, University and Regional Laboratories Region Skane,Lund University,Lund,Sweden;6.Department of Genetics,Hospices Civils de Lyon,Bron,France;7.Department of Medical Genetics, Medical School,University of Athens,Athens,Greece;8.Biochemistry Laboratory,University hospital of Besan?on,Besan?on,France;9.Department of Medical Oncology and CIC-BT506,University Hospital of Besan?on,Besan?on,France;10.Department of Pediatric Hemato-Oncology,University Hospital of Nice,Nice,France |
Abstract: | Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated. |