en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

6/2018
vol. 93
 
Share:
Send email
Share:
abstract:
Case report

The utility of molecular diagnostics in tumour surveillance in Beckwith-Wiedemann syndrome – clinical genetics point of view in light of a case report

Justyna Drankowska
,
Michał Kos
,
Andrzej Kościuk
,
Joanna Nurzyńska-Flak

Pediatr Pol 2018; 93 (6): 479–483
DOI: https://doi.org/10.5114/polp.2018.82657
Online publish date: 2019/01/07
View full text Get citation
 
PlumX metrics:
Beckwith-Wiedemann syndrome (BWS) is the most frequent congenital overgrowth syndrome. Its clinical features are variable, including macrosomia, hemihyperplasia, and macroglossia. The most important feature appears to be the increased risk of embryonal tumours, depending on the molecular aetiology of BWS. The underlying molecular abnormalities might be genetic or epigenetic, and they involve the segment of the genome – chromosome 11p15.

The aim of the study is to present the case report of a patient with BWS, who was at the highest molecular risk of developing embryonal tumour associated with this syndrome. The authors emphasise the importance of therapy individualisation in BWS due to variable cancer predispositions associated with molecular aetiology.
keywords:

malignant neoplasm, molecular diagnostics, Beckwith-Wiedemann syndrome, epigenetic defects