It appears (as with many mutated genes) that a somatic mutation can lead to a form of cancer and a novo mutation to a serious disease (syndrome). There is no evidence that children with BOS/novo mutation ASXL1 gene will also have the afore mentioned (blood) cancer.
There is one case of medulloblastoma (brain tumor) (Hasting et al. 2010) and there are children described with Wilms tumor (tumor of the kidney) (Russel et al. 2015).
Unfortunately we know from some children who have Bohring-Opitz-Syndrome (BOS) that they have Wilms Tumor. We think there is an association between BOS and bilateral Wilms Tumor. We recommend to check all young children with BOS to have abdominal ultrasound screenings every 3 months.
Recently a child with Bohring-Opitz Syndrome is diagnosed also with Hepatoblastoma. This is an very rare malignant liver cancer occurring in infants and children and can speread to other areas of the body. Read more about Hepatoblastoma.
- Wilms tumor screening recommended for some patients with Bohring-Opitz Syndrome
- Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo
- Lipofibromatosis accompanied by several congenital anomalies, report of a rare case