The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum

Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group

“…Diagnosing lower stage tumours can, however, avoid the need for toxic treatment such as anthracyclines or radiotherapy, reducing direct and late side-effects. It has been retrospectively demonstrated that children with BWS or hemihypertrophy undergoing WT surveillance had significantly lower stage WT compared with children not participating in a surveillance program [2,3] and that WTs in patients with Wilms tumour, aniridia, genitourinary anomalies and range of developmental delays (WAGR) syndrome are significantly smaller if they are surveillance-detected than symptomatic tumours [14]. Analysis of a registry-based cohort could provide stronger unbiased evidence in the future.…”

“…If WT surveillance is indicated, we recommend continuing surveillance until a child's 7th birthday regardless of the underlying CPS diagnosis. By the age of 7 years, 90% of sporadic WTs [3], 94% of WTs in children with BWS [3] and >95% of WTs in children with WT1-related syndromes [14,19,24] have been diagnosed, and this age has been previously recommended by other groups [5,10]. For other CPS, the number of reported patients with WT was too small to determine this percentage.…”

“…Yet, advanced stage WT is still associated with significant morbidity and mortality. To enable the detection of smaller and lower-stage tumours [2,3], WT surveillance is offered to children with various cancer predisposition syndromes (CPS), with WT1-related syndromes and Beckwith-Wiedemann syndrome/spectrum (BWS/BWSp) being the most wellknown examples [4e6].…”

Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith–Wiedemann Syndrome: A Case Report and Review of the Literature

“…The overall estimated neoplastic risk is 8%. [ 3 ] The most common tumors associated with BWS are Wilms tumors and hepatoblastomas, though rhabdomyosarcomas, adrenal cortical carcinomas, mesenchymal liver hamartomas, and neuroblastomas have been reported. [ 4 , 5 ] Certain genetic mutations of BWS are associated with a higher oncologic risk than others.…”

Characterization and Childhood Tumor Risk Assessment of Genetic and Epigenetic Syndromes Associated With Lateralized Overgrowth

“…In some syndromes with an established tumor risk, tumor screening has been demonstrated to detect tumors at an early age. For example, in Beckwith-Wiedemann spectrum (BWSp), patients who underwent ultrasonographic screening had on average earlier tumor stages at diagnosis than those who did not undergo screening (7). Diagnosing tumors in their earlier stages may allow for less invasive treatment and the prevention of possible metastasis.…”