What monitoring is recommended for an 11-year-old male with Beckwith-Wiedemann syndrome (BWS)?

Monitoring Recommendations for an 11-Year-Old Male with Beckwith-Wiedemann Syndrome

For an 11-year-old male with Beckwith-Wiedemann syndrome (BWS), tumor surveillance is no longer recommended as he has passed the age thresholds for standard screening protocols (7 years for Wilms tumor and 4 years for hepatoblastoma).

Tumor Surveillance Background

• BWS is a rare overgrowth syndrome with an incidence of approximately 1 in 10,500 births, characterized by pre- and postnatal constitutional and organ overgrowth, macroglossia, omphalocele/umbilical hernia, and predisposition to embryonal tumors 1, 2
• The overall tumor risk in BWS is 5-10%, but varies significantly by molecular subtype (28% for IC1 gain of methylation, 2.6% for IC2 loss of methylation, 16% for pUPD11, and 6.7% for CDKN1C mutations) 1, 2
• Wilms tumor (WT) and hepatoblastoma (HB) are the most common tumors associated with BWS 1

Age-Specific Surveillance Recommendations

Previous Surveillance (Now Completed)

• Wilms tumor screening:

  • Renal ultrasound every 3 months from birth through the 7th birthday 1, 2
  • 93% of Wilms tumors in BWS occur before age 8 years 1
  • At age 11, the patient has completed the recommended screening period

• Hepatoblastoma screening:

  • Full abdominal ultrasound and serum alpha-fetoprotein (AFP) measurements every 3 months from birth through the 4th birthday 1, 2
  • Most hepatoblastomas occur within the first year of life, with the oldest reported at 30 months 1
  • At age 11, the patient has completed the recommended screening period

Current Recommendations

• No further routine tumor surveillance imaging is recommended at age 11 as the patient has passed the age thresholds for standard screening protocols 1, 2
• Physical examination by a specialist (geneticist or pediatric oncologist) annually is still beneficial to monitor for any syndrome-specific manifestations 1

Special Considerations

• If the patient has a CDKN1C mutation (a rare cause of BWS), additional screening for neuroblastoma may have been warranted in early childhood, but this is typically not continued to age 11 1, 3
• Genetic counseling is recommended due to the complexity of BWS inheritance patterns, especially as the patient approaches adolescence 1, 2
• Urological abnormalities can be associated with BWS (particularly with chromosome 11p15.5 duplications), so any urinary symptoms should prompt evaluation 4

Monitoring for Other BWS-Related Issues

• Continue monitoring for other BWS-related issues that may persist into adolescence:
  • Growth abnormalities (overgrowth may continue into adolescence) 2, 5
  • Developmental assessment as needed 5, 6
  • Management of any persistent clinical features like macroglossia or hemihyperplasia 2, 6

Important Caveats

• The specific molecular subtype of BWS affects tumor risk, though standardized surveillance is typically recommended regardless of subtype 1, 2
• If the molecular diagnosis of BWS is uncertain or if mosaicism is suspected, additional genetic testing may be considered to clarify the diagnosis and associated risks 5
• Any new concerning symptoms (abdominal pain, mass, hematuria) should prompt immediate evaluation despite being outside the standard screening window 7, 8