Updated Screening Guidelines

A new publication was recently published by Patel et al. 2024 on two children with Bohring-Opitz Syndrome, who are diagnosed with liver cancer. These two, together with a previously known case, are now three individuals diagnosed with hepatoblastoma described in the medical literature.

Hepatoblastoma is a very rare malignant liver cancer occurring in infants and children and can spread to other areas of the body. If early identified and treated, hepatoblastoma can be typically cured. Even though the risk of hepatoblastoma in individuals with Bohring-Opitz is less than 1%, the occurrence of this cancer has led to update the tumor screening guidelines for Bohring-Opitz Syndrome to detect the development of hepatoblastoma in an early stage.

Screening guidelines
Hepatoblastoma & Wilms tumor

• Abdominal ultrasound including imaging of the kidneys and liver every three months until age eight
• 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 five
  • 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. Read here their updated tumor screening guidelines.

Bohring-Opitz & Cancer

It appears (as with many mutated genes) that a somatic mutation can lead to a form of cancer and the de novo mutation to a serious disease (syndrome). There is no evidence that children with BOS/de novo mutation in the ASXL1 gene will also have the aforementioned cancer and, if at all, the risk remains very low. However, up to date there are cases of medulloblastoma (brain tumor) (Hasting et al. 2010), Wilms tumor (tumor of the kidney) (Russell et al. 2015 and 2023) as well as hepatoblastoma (liver cancer) occurred in Bohring-Opitz Syndrome (Russell et al. 2023; Patel et al. 2024).

An association between Bohring-Opitz Syndrome and bilateral Wilms Tumor, a rare pediatric cancer of the kidneys, is suspected, because of the 7% incidence of a renal neoplastic process in patients with Bohring-Opitz syndrome. Therefore, screening recommendations (Russell et al. 2015) have been published to detect the development of Wilms tumor in children with Bohring-Opitz Syndrome. These new screening guidelines for hepatoblastoma are in addition to Wilms Tumor screening.