Journal: Italian journal of pediatrics
This comprehensive review from the Italian BWSp Association updates the 2018 international consensus on Beckwith-Wiedemann spectrum (BWSp), a congenital imprinting disorder characterized by overgrowth and cancer risk due to alterations at chromosome 11p15.5.
Incorporating evidence up to 2024, the review revises:
- Diagnosis
- Prenatal testing
- Molecular strategies
- Tumor surveillance
- Management of clinical features such as macroglossia and limb-length discrepancy
Key advances include:
- Addressing diagnostic challenges in cases with negative blood methylation tests by using alternative tissue analysis
- Introducing a prenatal scoring system
- Refining tumor screening protocols, including universal α-fetoprotein monitoring for hepatoblastoma and genotype-guided Wilms tumor surveillance
The review also discusses multi-locus imprinting disturbances (MLID) and their genetic implications.
Additional highlights include:
- Cognitive and psychosocial concerns that warrant routine assessment
- Calls for improved transition care from pediatric to adult services
The authors emphasize a multidisciplinary, personalized approach to enhance lifelong management and encourage ongoing research into diagnostics and long-term outcomes.