Table 9.

Beckwith-Wiedemann Syndrome: Tumor Surveillance Protocols 1, 2

AssessmentFrequencyComment
Abdominal ultrasound w/views of liver, adrenal glands, & kidneysEvery 3 mos until age 4 yrs 3To screen primarily for hepatoblastoma & Wilms tumor but also for adrenocortical carcinoma & abdominal neuroblastoma
Renal ultrasound onlyEvery 3 mos from age 4-7 yrsTo screen for Wilms tumor
Serum AFP levelEvery 3 mos until age 4 yrsTo screen for hepatoblastoma 4, 5
If AFP is elevated, & imaging reveals no suspicious lesion, follow-up measurement of serum AFP concentration plus baseline liver function tests 4-6 wks later can be used to determine the trend in serum AFP concentrations over time. 6
If the concentration is not decreasing, it is appropriate to undertake an exhaustive search for an underlying tumor.
Physical exam by pediatrician, geneticist, or pediatric oncologist2x/yrIncl ongoing education about tumor signs/symptoms & to aid in compliance
Proposed screening for neuroblastoma in children w/heterozygous pathogenic variant in CDKN1C
Abdominal ultrasoundEvery 3 mos until age 6 yrs, then every 6 mos until age 10 yrsThis screening has been variably incorporated into screening protocols given the relatively low yield, high rates of false positive test results, & lack of evidence regarding diagnostic, mgmt, & outcome benefits. Therefore, initiation of this tumor screening protocol should be preceded by discussion between the provider & family re risks vs benefits of the protocol.
Urine vanillylmandelic acid & homovanillic acid
Chest radiograph
1.

For alternate tumor surveillance recommendations utilized in many European countries, see Brioude et al [2018] and Mussa et al [2021].

2.

The tumor screening protocol does NOT take into account the underlying molecular mechanism for BWS (see Table 3), with the exception of a different proposed screening protocol for neuroblastoma in individuals with a heterozygous pathogenic variant in CDKN1C.

3.

This avoids confusion about whether to perform renal ultrasound only or abdominal ultrasound based on age.

4.

AFP serum concentration may be elevated in children with BWS in the first year of life.

5.

Most cases of hepatoblastoma will occur in the first year of life, with the oldest known case of hepatoblastoma in BWS detected at age 30 months [Kalish et al 2017].

6.

Increased frequency of serum AFP testing will depend on significant increases in the AFP level as defined by the AACR guidelines [Kalish et al 2017].

From: Beckwith-Wiedemann Syndrome

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