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.
Guenat, D., Quentin, S., Rizzari, C., Lundin, C., Coliva, T., Edery, P., et al. (2014). Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma. JOURNAL OF HEMATOLOGY & ONCOLOGY, 7 [10.1186/s13045-014-0082-4].
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma
Rizzari, C;COLIVA, TIZIANA ANGELA;
2014
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.
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