Updated tumor screening guidelines for Bohring-Opitz Syndrome
New guidelines include screening for hepatoblastoma (liver cancer) in addition to existing Wilms tumor screening guidelines
In April 2024, two additional individuals with Bohring-Opitz Syndrome (ASXL1-related disorder) were identified with hepatoblastoma (Reference 1), a rare pediatric cancer of the liver. This is in addition to another case first reported in April 2023 (Reference 2).
Hepatoblastoma is an extremely rare pediatric cancer (1 in a million in the general population). With 3 known instances of hepatoblastoma in an estimated 300 individuals with Bohring-Opitz Syndrome, the risk of hepatoblastoma in individuals with Bohring-Opitz Syndrome remains very low (less than 1%), but it is significant enough to warrant new screening recommendations.
Hepatoblastoma typically affects young children in the first 5 years of life. Individuals with hepatoblastoma are typically cured if their cancer is identified and treated early. Routine screening can be done via abdominal ultrasound to look for tumors developing in the liver, and by a blood test to measure level of alpha-fetoprotein (AFP), a protein made by the liver.
These new screening recommendations for hepatoblastoma are in addition to the existing screening recommendations for Wilms tumor (Reference 3), a rare pediatric cancer of the kidneys, which include a screening ultrasound to look for tumors developing on the kidneys every three months until age 8.
Updated tumor screening recommendations include:
Abdominal ultrasound including imaging of the kidneys and liver every three months until age 8
Discussion of the following additional screening options with your child’s care team:
Measurement of alpha-fetoprotein (AFP) via blood draw every three months until age 5
Continuation of ultrasound screening past age 8 at a reduced frequency (e.g.. every 6 months)
These recommendations are made by the ARRE Foundation Medical and Scientific Advisory Board, including Dr. Bianca Russell (University of California, Los Angeles) and Dr. Wen-Hann Tan (Boston Children’s Hospital) who are clinical geneticists with longstanding clinical research interests in Bohring-Opitz Syndrome.
For more information about Bohring-Opitz Syndrome, including links to relevant clinical research publications, please visit arrefoundation.org/bohring-opitz
References:
1: Patel, K., McQuaid, S., Ketterl, T., Benedetti, D.J. and Sokol, E. (2024), Two cases of hepatoblastoma in Bohring–Opitz syndrome: An emerging association. Pediatr Blood Cancer e31010. https://doi.org/10.1002/pbc.31010
2: Russell, B. E., Kianmahd, R. R., Munster, C., Yu, A., Ahad, L., & Tan, W. H. (2023). Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk. American journal of medical genetics. Part A, 191(4), 1050–1058. https://doi.org/10.1002/ajmg.a.63125
3: Russell, B., Johnston, J. J., Biesecker, L. G., Kramer, N., Pickart, A., Rhead, W., Tan, W. H., Brownstein, C. A., Kate Clarkson, L., Dobson, A., Rosenberg, A. Z., Vergano, S. A., Helm, B. M., Harrison, R. E., & Graham, J. M., Jr (2015). Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. American journal of medical genetics. Part A, 167A(9), 2122–2131. https://doi.org/10.1002/ajmg.a.37131
