Table 5 Proposed tumour surveillance protocol for Beckwith–Wiedemann spectrum

From: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

Tumour risk (% of patients)*

Tumour type for surveillance

Surveillance procedures

Timing

IC2 LOM

• Overall risk (2.6%)

• Hepatoblastoma (0.7%)

• Rhabdomyosarcoma (0.5%)

• Neuroblastoma (0.5%)

• Thyroid cancer (0.3%)

• Wilms tumour (0.2%)

• Melanoma (0.1%)

Tumour incidence lower than other molecular subgroups; extremely variable tumour spectrum; only half of tumours arise in the abdomen

• No routine USS surveillance

• Clinical assessment and USS in response to signs and/or symptoms or parental concerns

–

IC1 GOM

• Overall risk (28.1%)

• Wilms tumour (24%)

• Neuroblastoma (0.7%)

• Pancreatoblastoma (0.7%)

Wilms tumour

Abdominal USS

Every 3 months from diagnosis until age 7 years

upd(11)pat

• Overall risk (16%)

• Wilms tumour (7.9%)

• Hepatoblastoma (3.5%)

• Neuroblastoma (1.4%)

• Adrenocortical carcinoma (1.1%)

• Phaeochromocytoma (0.8%)

• Lymphoblastic leukaemia (0.5%)

• Pancreatoblastoma (0.3%)

• Hemangiotheloma (0.3%)

• Rhabdomyosarcoma (0.3%)

• Wilms tumour

• Hepatoblastoma

• Adrenal tumours

Abdominal USS

Every 3 months from diagnosis until age 7 years

CDKN1C mutation

• Overall risk (6.9%)

• Wilms tumour (1.4%)

• Neuroblastoma (4.2%)

• Acute lymphoblastic leukaemia (1.4%)

Neuroblastoma

Abdominal USS

Every 3 months from diagnosis until age 7 years

Classical BWS with negative molecular tests

• Overall risk (6.2%)

• Wilms tumour (4.1%)

• Neuroblastoma (0.6%)

• Hepatoblastoma (0.3%)

• Rhabdomyosarcoma (0.3%)

• Adrenocortical carcinoma (0.3%)

Wilms tumour

Abdominal USS

Every 3 months from diagnosis until age 7 years

  1. Proposed tumour surveillance protocols for patients with Beckwith–Wiedemann spectrum (BWSp) disorder (including those with isolated lateralized overgrowth who have 11p15 abnormalities) are shown and stratified according to molecular subtype. Although there are differences in tumour risks and prevalent tumour types between molecular subgroups when surveillance is recommended, a single surveillance programme is used to reduce confusion and enhance consistency. In specific health-care systems, practice might currently vary from this protocol (see the main text for details). BWS, Beckwith–Wiedemann syndrome; GOM, gain of methylation; LOM, loss of methylation; upd(11)pat, paternal uniparental isodisomy of 11p15.5; USS, ultrasound scan.
  2. *Tumour and histotype prevalence data from Maas et al.14 and Mussa et al.17; 7 years refers to the risk of Wilms tumour, as hepatoblastoma usually occurs before age 2 years.
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