Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

Guenat, David; Quentin, Samuel; Rizzari, Carmelo; Lundin, Catarina; Coliva, Tiziana; Edery, Patrick; Fryssira, Helen; Bermont, Laurent; Ferrand, Christophe; Soulier, Jean; Borg, Christophe; Rohrlich, Pierre‐Simon

doi:10.1186/s13045-014-0082-4

Cited by 9 publications

(11 citation statements)

References 25 publications

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“…In the literature, 14 other cancer cases in patients with WBS were reported, predominantly non-Hodgkin lymphoma (Marles et al, 1993;Felice et al, 1994;Guenat et al, 2014;Velikonja et al, 2016), but there was no case involving the thyroid (Table 1). The absence of other The face of the patient at 13 years of age.…”

Section: Discussionmentioning

confidence: 99%

Follicular thyroid carcinoma in a male adolescent with Williams–Beuren syndrome

Chagas

Maion²,

Avó³

et al. 2017

Clinical Dysmorphology

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Section: Discussionmentioning

confidence: 99%

Follicular thyroid carcinoma in a male adolescent with Williams–Beuren syndrome

Chagas

Maion²,

Avó³

et al. 2017

Clinical Dysmorphology

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“…The promoter of HOX4A, which showed increased methylation only in the WS group, has been shown to become hypermethylated in hematopoietic cancers, particularly those arising from the B cell lineage. 80 Several cases of B cell lymphoma have recently been reported in WS, 81 and changes in the regulation of HOXA4 could be a contributing factor to their pathogenesis or prognosis. Early puberty is also seen in WS, 3 and mutations in MKRN3, which is in the region associated with Prader-Willi and Angelman syndromes, have been associated with precocious puberty.…”

Section: Discussionmentioning

confidence: 99%

Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23

Strong

Butcher

Singhania

et al. 2015

The American Journal of Human Genetics

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Epigenetic dysfunction has been implicated in a growing list of disorders that include cancer, neurodevelopmental disorders, and neurodegeneration. Williams syndrome (WS) and 7q11.23 duplication syndrome (Dup7) are rare neurodevelopmental disorders with broad phenotypic spectra caused by deletion and duplication, respectively, of a 1.5-Mb region that includes several genes with a role in epigenetic regulation. We have identified striking differences in DNA methylation across the genome between blood cells from children with WS or Dup7 and blood cells from typically developing (TD) children. Notably, regions that were differentially methylated in both WS and Dup7 displayed a significant and symmetrical gene-dose-dependent effect, such that WS typically showed increased and Dup7 showed decreased DNA methylation. Differentially methylated genes were significantly enriched with genes in pathways involved in neurodevelopment, autism spectrum disorder (ASD) candidate genes, and imprinted genes. Using alignment with ENCODE data, we also found the differentially methylated regions to be enriched with CCCTC-binding factor (CTCF) binding sites. These findings suggest that gene(s) within 7q11.23 alter DNA methylation at specific sites across the genome and result in dose-dependent DNA-methylation profiles in WS and Dup7. Given the extent of DNA-methylation changes and the potential impact on CTCF binding and chromatin regulation, epigenetic mechanisms most likely contribute to the complex neurological phenotypes of WS and Dup7. Our findings highlight the importance of DNA methylation in the pathogenesis of WS and Dup7 and provide molecular mechanisms that are potentially shared by WS, Dup7, and ASD.

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“…[6] Some genes in WBSCR are involved in regulation of cell proliferation and differentiation, which could predispose to neoplasia in WBS. [1,7] Case reports of malignancies in patients with WBS include lymphoid, myeloid, and nonepithelial cancers but no susceptibility loci have been identified. [2,[7][8][9] Uncertain association of malignancies and WBS could be explained by its low prevalence (1/7,500-1/20,000 births) and possible unrecognized WBS cases.…”

Section: Letter To the Editor Twins With Williams-beuren Syndrome Andmentioning

confidence: 99%

“…Renal malformations are common in WBS, but there are few reports of kidney function deterioration and no studies indicating risk of malignant alteration . Some genes in WBSCR are involved in regulation of cell proliferation and differentiation, which could predispose to neoplasia in WBS . Case reports of malignancies in patients with WBS include lymphoid, myeloid, and nonepithelial cancers but no susceptibility loci have been identified .…”

mentioning

confidence: 99%