Paediatric congenital malformation-dysmorphism-tumour sydromes


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Inclusion criteria

  • proband is affected with childhood neoplasia (diagnosed age (<=16) AND
  • proband has significant congenital malformation OR premorbid growth abnormality (>=3SD from mean) OR FDR is affected with childhood malignancy (diagnosed age (<=16) OR significant facial dysmorphism (ascertained by clinical geneticist) OR
  • Proband (child <16) with bilateral tumours

Exclusion criteria

Prior genetic testing guidance

  •  Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing as below is strongly recommended PRIOR TO RECRUITMENT to allow appropriate management of families with readily detectable mutations in known disease genes:

  • any genetic testing for which patient is eligible by local guidance on account of personal/family
  • including for Wilms tumour WT1 and 11p15 methylation studies; Adrenocortical carcinoma TP53; Hepatoblastoma 11p15 methylation studies; consideration of Fanconi breakage testing according to clinical presentation.

Closing statement

These requirements will be kept under continual review during the main programme and may be subject to change.

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