Short Communication Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

Leme, D. E S; Souza, Deise Helena de; Mercado, Graciela; Pastene, E.; Dias, Adriano; Moretti-Ferreira, Danilo

doi:10.4238/2013.september.4.7

Cited by 7 publications

(8 citation statements)

References 9 publications

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“…45 In contrast, FISH allows for precise gene copy number determination in individual cells, rendering it independent from the purity of cancer tissues or presence of aneusomy. [46][47][48] 8p deletions were unevenly distributed between breast cancer subtypes, providing further support for the existence of biological differences between different subtypes of breast cancer. The higher rate of 8p deletions in NST as compared to lobular cancer is not surprising as most genomic alterations are more frequent in NST than in lobular carcinomas such as amplifications of HER2, 41,49 MYC, 41 MDM1, 41 and AIB1, 50 or overexpression of p53.…”

Section: Discussionmentioning

confidence: 92%

8p deletion is strongly linked to poor prognosis in breast cancer

Lebok

Mittenzwei

Kluth

et al. 2015

Cancer Biology & Therapy

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Deletions of chromosome 8p occur frequently in breast cancers, but analyses of its clinical relevance have been limited to small patient cohorts and provided controversial results. A tissue microarray with 2,197 breast cancers was thus analyzed by fluorescence in-situ hybridization using an 8p21 probe in combination with a centromere 8 reference probe. 8p deletions were found in 50% of carcinomas with no special type, 67% of papillary, 28% of tubular, 37% of lobular cancers and 56% of cancers with medullary features. Deletions were always heterozygous. 8p deletion was significantly linked to advanced tumor stage (P < 0.0001), high-grade (P < 0.0001), high tumor cell proliferation (Ki67 Labeling Index; P < 0.0001), and shortened overall survival (P < 0.0001). For example, 8p deletion was seen in 32% of 290 grade 1, 43% of 438 grade 2, and 65% of 427 grade 3 cancers. In addition, 8p deletions were strongly linked to amplification of MYC (P < 0.0001), HER2 (P < 0.0001), and CCND1 (p D 0.001), but inversely associated with ER receptor expression (p D 0.0001). Remarkably, 46.5% of 8p-deleted cancers harbored amplification of at least one of the analyzed genes as compared to 27.5% amplifications in 8p-non-deleted cancers (P < 0.0001). In conclusion, 8p deletion characterizes a subset of particularly aggressive breast cancers. As 8p deletions are easy to analyze, this feature appears to be highly suited for future DNA based prognostic breast cancer panels. The strong link of 8p deletion with various gene amplifications raises the possibility of a role for regulating genomic stability.

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Section: Discussionmentioning

confidence: 92%

8p deletion is strongly linked to poor prognosis in breast cancer

Lebok

Mittenzwei

Kluth

et al. 2015

Cancer Biology & Therapy

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“…The incidence of typical forms of WBS is 1:7500 live births, but the partial form is still poorly understood in developing countries. 1 , 2 To our knowledge, this is the first case reported in Burkina Faso.…”

Section: Discussionmentioning

confidence: 70%

“…Williams-Beuren syndrome (WBS), is a rare genetic neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral disorders. 1 , 2 Little is known about WBS in last developed and developing countries; this disease is under-diagnosed or diagnosed late, which causes several consequences on both somatic and psychological aspects. 2 …”

Section: Introductionmentioning

confidence: 99%

Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso

et al. 2015

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Williams-Beuren syndrome (WBS) is a rare neurodevelopmental disorder characterized by a set of somatic, psychological, and behavioral abnormalities, which is caused by a deletion of several genes. Herein we report a 6 year-old boy, who presented with mental retardation and psychological disorders. The result of the first clinical examination was poor, since it didn’t detect any dysmorphic feature which is a major component for the clinical diagnosis of WBS. Despite the multidisciplinary and the multicenter approaches used, the diagnosis of WBS (deletion of chromosome band 7q11. 23) was established more than 3 years after the first medical consultation. Rare partial forms of WBS have been recently described and they are both clinically and genetically difficult to diagnose. Unfortunately, this disorder is still little known by health professionals.

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“…Children with Williams Beuren syndrome have typical facial dysmorphy (elfin face), congenital cardiopathy and intellectual disability. The genetic basis of this syndrome has already been established, that is microdeletion of the 7 th chromosome (7q11.23) which encompass elastin and additionally 27 genes [7,8,9]. The pathophysiology and genetics of IIH had been confused for many decades until group from Muenster (Germany) published report in New England Journal of Medicine in 2011 and found that majority of patients with IIH had mutation CYP24A1 gene.…”

Section: Discussionmentioning

confidence: 99%

Idiopathic Infantile Hypercalcemia – Case Report

Palchevska¹,

Spasevska²,

Jovanovska

et al. 2021

JMS

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Idiopathic Infantile Hypercalcemia (IIH) is a rare genetic disease which cardinal features is failure to thrive, polyuria, dehydration, vomiting, seizures, lethargy, comma and if unrecognized and untreated may result in death.Laboratory investigations show hypercalcemia, hypercalciuria, elevated values of 1, 25 (OH) D3 and suppressed levels of parathormon. Ultrasound study usually reveals bilateral medullary echogenicity typical for nephrocalcinosis. Emergency treatment consists from large hydration, prednisolone, calcitonin and biphosphonates, which were used with success. In this report we present a 6 month old female infant who came to our attention due to growth delay as a consequence of polyuria, vomiting and poor apetite.Dietary management with withdrawal of vitamin D and reduction of calcium intake significantly improved the general health status and normalized the serum biochemistry. The diagnosis was established with mutational analysis of the CYP24A1 gene.

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Short Communication Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome

Cited by 7 publications

References 9 publications

8p deletion is strongly linked to poor prognosis in breast cancer

8p deletion is strongly linked to poor prognosis in breast cancer

Diagnostic Path of a Genetic Disease: A Case of Williams-Beuren Syndrome in Burkina Faso

Idiopathic Infantile Hypercalcemia – Case Report

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