Molecular genetics of Wiedemann-Beckwith syndrome

Li, Madeline; Squire, Jeremy A.; Weksberg, Rosanna

doi:10.1002/(sici)1096-8628(19981002)79:4<253::aid-ajmg5>3.0.co;2-n

Cited by 141 publications

(23 citation statements)

References 56 publications

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“…In a comprehensive review of >100 tumors reported in BWS, 20% were hepatoblastoma (Lapunzina 2005). Eighty-five percent of mutations causing BWS arise de novo, while 15% have family history suggesting autosomal dominant inheritance (Li et al 1997(Li et al , 1998. SGBS is also associated with increased risk for hepatoblastoma (Li et al 2001).…”

Section: Hepatoblastomamentioning

confidence: 99%

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Scollon

Anglin

Thomas

et al. 2017

Journal of Genetic Counseling

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An understanding of the role of inherited cancer predisposition syndromes in pediatric tumor diagnoses continues to develop as more information is learned through the application of genomic technology. Identifying patients and their relatives at an increased risk for developing cancer is an important step in the care of this patient population. The purpose of this review is to highlight various tumor types that arise in the pediatric population and the cancer predisposition syndromes associated with those tumors. The review serves as a guide for recognizing genes and conditions to consider when a pediatric cancer referral presents to the genetics clinic.

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Section: Hepatoblastomamentioning

confidence: 99%

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Scollon

Anglin

Thomas

et al. 2017

Journal of Genetic Counseling

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“…Among sporadic and autosomal dominant pedigrees, mutations in CDKN1C have been observed in a small number of cases. In sporadic cases, the DNA alterations involving 11p15 include trans locations or inversions, duplications, and uni parental disomy (for a detailed review, see Li et al 37 ). Hypoglycemia occurs in up to 50% of patients with BWS (reviewed by Dunne et al 10 ).…”

Section: Hyperinsulinism In Beckwith-wiedemann Syndromementioning

confidence: 99%

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates

2007

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Hyperinsulinism is the single most common mechanism of hypoglycemia in neonates. Dysregulated insulin secretion is responsible for the transient and prolonged forms of neonatal hypoglycemia, and congenital genetic disorders of insulin regulation represent the most common of the permanent disorders of hypoglycemia. Mutations in at least five genes have been associated with congenital hyperinsulinism: they encode glucokinase, glutamate dehydrogenase, the mitochondrial enzyme short-chain 3-hydroxyacyl-CoA dehydrogenase, and the two components (sulfonylurea receptor 1 and potassium inward rectifying channel, subfamily J, member 11) of the ATP-sensitive potassium channels (K(ATP) channels). K(ATP) hyperinsulinism is the most common and severe form of congenital hyperinsulinism. Infants suffering from K(ATP) hyperinsulinism present shortly after birth with severe and persistent hypoglycemia, and the majority are unresponsive to medical therapy, thus requiring pancreatectomy. In up to 40-60% of the children with K(ATP) hyperinsulinism, the defect is limited to a focal lesion in the pancreas. In these children, local resection results in cure with avoidance of the complications inherent to a near-total pancreatectomy. Hyperinsulinism can also be part of other disorders such as Beckwith-Wiedemann syndrome and congenital disorders of glycosylation. The diagnosis and management of children with congenital hyperinsulinism requires a multidisciplinary approach to achieve the goal of therapy: prevention of permanent brain damage due to recurrent hypoglycemia.

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“…Familial tumors also occur in Beckwith-Wiedemann syndrome, associated with dysregulation of a group of growth controlling genes on 11p15.5 [77] including paternal disomy of the IGF-II gene. Rearrangement at this locus and overexpression of IGF-II has been reported in the majority of sporadic cases of carcinoma [33,78].…”

Section: Molecular Pathogenesis Of Adrenal Cortical Tumorsmentioning

confidence: 99%

A Diagnostic Approach to Adrenal Cortical Lesions

McNicol

2008

Endocr Pathol

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The adrenal gland is not a common specimen in surgical pathology practice as, until recently, adrenal tumors were recognized in life only if associated with hypersecretion of hormones or evidence of malignancy. However, adrenal nodules are not uncommon at autopsy, and the number of these found in life is now increasing as they are identified when the abdomen is scanned for the investigation of other diseases using computed tomography or magnetic resonance imaging. It is therefore becoming increasingly important for the surgical pathologist to be aware of the range of pathology in the gland and to understand how to approach the specimens. This short review will deal with lesions of the adrenal cortex.

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Molecular genetics of Wiedemann-Beckwith syndrome

Cited by 141 publications

References 56 publications

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes

Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates

A Diagnostic Approach to Adrenal Cortical Lesions

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