Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

Cöktü, Sümeyye; Spix, Claudia; Kaiser, Melanie; Beygo, Jasmin; Kleinle, Stephanie; Bachmann, Nadine; Kohlschmidt, Nicolai; Prawitt, Dirk; Beckmann, Arnold; Klaes, Ruediger; Nevinny-Stickel-Hinzpeter, Claudia; Döhnert, Steffi; Kraus, Cornelia; Kadgien, Gundula; Vater, Inga; Biskup, Saskia; Kutsche, Michael; Kohlhase, Jürgen; Eggermann, Thomas; Zenker, Martin; Kratz, Christian P.

doi:10.1038/s41416-020-0911-x

Cited by 35 publications

(30 citation statements)

References 24 publications

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“…They were found in Li-Fraumeni syndrome [ 87 , 93 , 94 ], multiple endocrine neoplasia type 1 [ 95 ], neurofibromatosis type 1 [ 96 ] and familial adenomatous polyposis [ 97 ]. In addition, paediatric ACCs were found in Beckwith–Wiedemann syndrome [ 98 , 99 ].…”

Section: Paediatric Adrenocortical Carcinomamentioning

confidence: 99%

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

Lam

2021

Biomedicines

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Adrenocortical carcinoma (ACC) is a heterogenous group of diseases with different clinical behaviour between adult and paediatric patients. In addition, three histological variants, oncocytic, myxoid and sarcomatoid are noted on the recent World Health Organisation (WHO) classification of ACC. A review of recent literature showed that the different types of ACC have distinctive demographic data, clinical presentation, pathology, biological behaviour, genomic and patients’ prognosis. In addition, recent updates of pathology staging for ACC allow refinement of prognostic grouping for planning treatment of the patients with ACC. These advances in genomic, pathology and staging have driven the development of standardisation of pathology reporting. International standardisation of pathological reporting of adrenocortical carcinoma and adaption to local pathology communities provide universal platforms for clinicians and researchers involved in the management of patients with ACC. To conclude, all these advances in the field of pathology will improve development of management strategies including improvement of clinical care, development of prognostic markers and testing of novel therapeutic approaches for patients with adrenocortical carcinoma.

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Section: Paediatric Adrenocortical Carcinomamentioning

confidence: 99%

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

Lam

2021

Biomedicines

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“…In cases of overgrowth syndromes, organ growth may be overall symmetric, or localized to a specific area of the body. Many of these syndromes are associated with increased risk of cancer 10,11 . Prenatal diagnosis of visceromegaly involving not only the kidneys but also the pancreas provides valuable information that may drive targeted genetic analysis of overgrowth syndromes.…”

Section: Discussionmentioning

confidence: 99%

The diagnostic potential of targeted imaging of the fetal pancreas

et al. 2021

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Objective: To report our experience with targeted scans of the fetal pancreas.Methods: Targeted scans were performed in 16 cases referred for anatomical or genetic conditions associated with structural pancreatic malformations.Results: Four fetuses were evaluated for nephromegaly and macroglossia. In three of them, the pancreas circumference was >90th percentile. Genetic testing revealed Beckwith-Wiedemann syndrome. In the fourth case, the pancreas circumference was normal; exome sequencing revealed two heterozygous ETFDH gene mutations consistent with glutaric acidemia type II. In a case referred for non-visualization of the gallbladder, the fetal pancreas was not visualized and genetic analysis revealed a mutation in the ONECUT1 gene encoding for HNF6.Targeted scan for heterotaxia revealed three cases with variable degrees of agenesis of the pancreas, one case with a normally structured right sided pancreas and one case with a normal pancreas. Cases referred following a genetic diagnosis included a case of maternal nesidioblastosis with an extremely large fetal pancreas; and five fetuses diagnosed with a TCF2 deletion all with a normal pancreas.Conclusions: Prenatal assessment of the fetal pancreas may be a significant factor in prenatal diagnosis and counselling in cases presenting with anatomical and genetic conditions reported post-natally to be associated with pancreatic structural and functional abnormalities. Key PointsWhat's already known about this topic? � Structural aberrations of the pancreas have been reported in association with several congenital malformations and genetic syndromes � The prenatal literature regarding imaging of the fetal pancreas is scarce � Sonographic imaging of the fetal pancreas is feasible What does this study add?� Prenatal ultrasound may detect structural abnormalities of the fetal pancreas � Prenatal evaluation of the fetal pancreas has the potential to provide a more accurate prenatal phenotype and affect genetic testing and risk assessment in a wide spectrum of prenatal scenarios 828 -Prenatal Diagnosis.

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“…Papulino suggested there is an increased incidence of childhood tumor predisposition in BWS patients [9]. Cöktü [23] identified a group of 321 individuals with a molecularly confirmed diagnosis of BWS and analysed the cancer incidence. They confirmed an increased cancer risk in children with BWS.…”

Section: Discussionmentioning

confidence: 99%

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

et al. 2021

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Background Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. An integrated molecular approach to analyze the epigenetic-genetic alterations is required for accurate diagnosis of BWS. Case presentation: We reported a Chinese case with BWS detected by SNP array analysis and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). The genetic analysis showed a de novo duplication of 24 Mb at 11p15.5p14.3 is much longer than ever reported. MS-MLPA showed copy number changes with a peak height ratio value of 1.5 (three copies) at 11p15. The duplication of paternal origin with increase of methylation index of 0.68 at H19 and decreased methylation index of 0.37 at KCNQ1OT1. Conclusion Combined chromosome microarray analysis and methylation profiling provided reliable diagnosis for this paternally derived duplication of BWS. The phenotype associated with 11p15 duplications depends on the size, genetic content, parental inheritance and imprinting status. Identification of these rare duplications is crucial for genetic counselling.

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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study

Cited by 35 publications

References 24 publications

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

The diagnostic potential of targeted imaging of the fetal pancreas

A Beckwith-Wiedemann syndrome case with de novo 24 Mb duplication of chromosome 11p15.5p14.3

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