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. Screening with abdominal ultrasonography every 3 to 4 months in the first 8 years of life has been suggested because of the 7% incidence of a renal neoplastic* process in patients with Bohring-Opitz syndrome. (Russell et al. 2015)
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 spread to other areas of the body. Read more about Hepatoblastoma.
* renal (=kindney) neoplastic (neoplasm = abnormal mass of tissue that forms when cells grow and divide more than they should or do not die when they should. Neoplasms may be benign (not cancer) or malignant (cancer).
- Wilms Tumor and Other Childhood Kidney Tumors Treatment (PDQ®)–Health Professional Version and Patient Version
- Role of Asxl1 in kidney podocyte development via its interaction with Wtip
- 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