Briefly Noted: Alpha-Fetoprotein Norms for Beckwith-Wiedeman Spectrum

Alpha-fetoprotein (AFP) levels are increased in >95% of patients with hepatoblastoma.  These levels have to be interpreted carefully in infants as these levels typically are elevated in the first 6-12 months of life.

For patients with Beckwith-Wiedeman Spectrum (BWS), the relative risk of hepatoblastoma has been estimated to be 2280 times greater than the general population.  In addition, in patients with BWS, AFP levels are known to be elevated compared to the general population in the absence of hepatoblastoma as well.

A recent study (KA Duffy et al. J Pediatr 2019; 212: 195-200) obtained 1372 AFP levels from 147 patients to establish normative values.

Table 2 -will be a useful reference. The authors found that AFP values were significantly higher in premature infants with BWS compared to full term and gradually approached normal levels around 12 months of life.

Some example AFP (95% CI) values from the entire cohort:

  • 1 week 5364 (3554-8095)
  • 4 weeks 3134 (2136-4597)
  • 12 weeks 849 (613-1176)
  • 6 months 134 (102-177)
  • 12 months 13.8 (11.1-17.3)

My take: This article will be very useful when monitoring for the risk of hepatoblastoma in patients with BWS



What I Like About ESPGHAN Familial Adenomatous Polyposis Position Paper

Management of Familial Adenomatous Polyposis in Children and Adolescents: A Position Paper from the ESPGHAN Polyposis Working Group: Link: JPGN 2019; 68 (3): 442-441

Unlike some working groups, the working group for ESPGAN Polyposis did not equivocate in making clear cut recommendations, especially for recommendations #6a and #6b, for Familial Adenomatous Polyposis (FAP) in children.

    Recommendation 1Predictive genetic testing should be offered to at-risk children at the age of 12 to 14 years. Families should receive genetic counselling before and at the time of testing. Children who are symptomatic with rectal bleeding should undergo earlier testing. (weak recommendation, low-quality evidence, consensus agreement 100%)
  • Recommendation 3: In those confirmed to have FAP on predictive genetic testing, and those considered at risk where genetic testing is not possible, colonic surveillance should commence age 12 to 14 years. Once adenomas have been identified, intervals between surveillance colonoscopy should be individualized depending on colonic phenotype every 1 to 3 years. Rectal bleeding or mucous discharge should lead to a colonoscopy at any age. (weak recommendation, low-quality evidence, consensus agreement 100%)
  • Recommendation 4:  Colectomy is necessary to prevent CRC in adulthood. Decision on the timing for colectomy should be determined by polyp burden and characteristics of colonic adenomas in the context of social, personal, and educational factors. IRA or IPAA have their merits and disadvantages and many factors impact on the choice of surgery. The choice should be based on patient phenotype (rectal and colonic burden) and genotype, at the discretion of the surgeon. (weak recommendation, low-quality evidence, consensus agreement 100%)
  • Recommendation 5: Despite the presence of gastric polyps in children, and the
    later risk of duodenal polyposis and ampullary cancer in adult practice, there is no justification to commence routine UGI surveillance until the age of 25 years.
    (weak recommendation, low-quality evidence, consensus agreement 90%)
  • Recommendation 6a: Routine screening for HPB [Hepatoblastoma]  in patients with FAP is not recommended. In children found to have HPB, there is no evidence that routine genetic testing or endoscopic screening for FAP is required.
    (weak recommendation, low-quality evidence, consensus agreement 100%)
  • Recommendation 6b: Children with bilateral and multiple CHRPE [congenital hypertrophy of retinal pigment epithelium] lesions should
    undergo colonoscopy at age 12 to 14 years. If CHRPE lesions are single or unilateral in the absence of relevant family history, further evaluation should not be required. (weak recommendation, low-quality evidence, consensus agreement 100%)
  • Recommendation 6c: The vast majority of desmoids tumours are sporadic; children identified to have a DT have approximately 10% risk of FAP. If the kindred is known to have FAP and the child has a desmoid, it should be presumed the child has FAP.  In a child presenting with a DT, testing the DT for a b-catenin /CTNNB1 mutation is recommended. If a b-catenin /CTNNB1 mutation is found, this indicates sporadic desmoid and further investigations for FAP are not required. If b-catenin /CTNNB1 mutation is not found, the patient should be investigated for FAP. (weak recommendation, low-quality evidence, consensus agreement 100%)
  • Recommendation 7: There is no role for the use of chemoprevention agents in
    children with FAP. (strong recommendation; moderate-quality evidence, 100%

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Disclaimer: These blog posts are for educational purposes only. Specific dosing of medications (along with potential adverse effects) should be confirmed by prescribing physician.  This content is not a substitute for medical advice, diagnosis or treatment provided by a qualified healthcare provider. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a condition.