Children with Beckwith-Wiedemann syndrome (BWS) are at increased risk for mortality associated with neoplasia, particularly Wilms tumour and hepatoblastoma, but also neuroblastoma, adrenocortical carcinoma, and rhabdomyosarcoma. Some literature reports propose tumour surveillance guidelines based on the molecular alteration detectedrrr whereas others have highlighted the challenges in definitively assigning tumour risk based on molecular classification in BWS.rr The overall estimated risk for tumour development in children with BWS is around 8%,r and the increased risk is concentrated in the first 7 years of life.r Tumour development in affected individuals older than age 7 years is rare, and there is currently no evidence to suggest adults with BWS are at increased cancer risk. Screening is indicated for Wilms tumour and hepatoblastoma due to their high incidence in BWS, and that survival of both tumours is closely related to the clinical stage at the time of diagnosis and the ability to resect the tumour. Abdominal ultrasound is the preferred modality as it is simple, tolerated, and cost-effective for Wilms tumour and hepatoblastoma surveillance.r
Wilms tumour
The median age of identification of Wilms tumour is around 2 years.r Children with BWS and Wilms tumour, when compared with non-syndromic children with Wilms tumour, present with less metastatic disease because of earlier stage disease, fewer anaplastic tumours and a higher incidence of bilateral synchronous or metachronous recurrence.r Although patients with BWS and Wilms tumour who are diagnosed using abdominal ultrasound surveillance have a smaller tumour size than children with sporadic Wilms tumour, overall survival values are similar (at least 90% at 4 years).r A scan interval of 3–4 months is recommended, as interval tumours have been reported with scan intervals in excess of 4–6 months, and the rapid Wilms tumour growth rate (estimated doubling time 11-40 days).r
Hepatoblastoma
Around 90% of hepatoblastomas occur before the age of 4 years, with a median age of 16 months.r There is lack of evidence for earlier stage at diagnosis and/or better prognosis in children who have hepatoblastoma surveillance versus children who present clinically. When surveillance is offered abdominal ultrasound is the preferred modality, and most published surveillance guidelines recommend 3 monthly ultrasound until the age of 4 years.r
Some experts suggest combining ultrasound with alpha-fetoprotein (AFP) measurements, as AFP is secreted in >95% of hepatoblastomas and a rising trend is likely to indicate hepatoblastoma development.r However, in the paediatric setting, interpreting serum AFP levels is complicated by the wide normal range and variability in concentrations in early infancy. In view of the burden of repeated venepuncture and the complexity of interpreting elevated AFP levels, it has been debated whether the potential benefits of AFP measurements outweigh the drawbacks.rrrr The international consensus group do not recommend AFP measurements as there is no evidence of benefit.r
Neuroblastoma
Although reported in all BWS molecular subgroups, neuroblastomas are preferentially associated with CDKN1C pathogenic variants, with a frequency of ~4%.r Surveillance for neuroblastomas with urinary vanillylmandelic acid and homovanillic acid and/or the catecholamine:creatinine ratio, combined with three monthly abdominal ultrasounds until age 2 years has been suggested.r However, previous neuroblastoma surveillance strategies using urinary markers in large-scale population infant settings had a very minor influence on the related morbidity and mortality,r and there is currently no evidence that neuroblastoma surveillance in BWS improves treatment and survival.