Τίτλος:
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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. © 2014 Shi et al.
Συγγραφείς:
Guenat, D.
Quentin, S.
Rizzari, C.
Lundin, C.
Coliva, T.
Edery, P.
Fryssira, H.
Bermont, L.
Ferrand, C.
Soulier, J.
Borg, C.
Rohrlich, P.-S.
Περιοδικό:
Journal of Hematology and Oncology
Εκδότης:
BioMed Central Ltd.
Λέξεις-κλειδιά:
DNA, Article; B cell lymphoma; Burkitt lymphoma; case report; child; chromosome 7q; chromosome deletion; comparative genomic hybridization; copy number variation; ELN gene; exon; female; gene; genotype; homozygosity; human; human cell; lymphoma cell; male; nonhodgkin lymphoma; school child; Williams Beuren syndrome; chromosome 7; chromosome deletion; complication; genetics; nonhodgkin lymphoma; Williams Beuren syndrome, Child; Chromosome Deletion; Chromosomes, Human, Pair 7; Comparative Genomic Hybridization; Female; Humans; Lymphoma, Non-Hodgkin; Male; Williams Syndrome
DOI:
10.1186/s13045-014-0082-4
