Medical professionals have a moderate understanding of what causes neurofibromatosis. The condition is genetic, meaning that it is the result of a mutation in a person’s genes. Sometimes, this genetic mutation is passed down from parent to child; in other cases, it occurs spontaneously. However, neurofibromatosis does not develop without the associated genetic mutation. It is the most common genetic neurological disorder caused by a single gene.
In regard to what causes neurofibromatosis, physicians understand that:
- About half of the people who have type 1 or type 2 neurofibromatosis inherited the genetic mutation from their parents. The other half developed it spontaneously.
- Around 15 percent of patients who have schwannomatosis inherited abnormal genes from their parents. In the majority of cases, however, researchers are uncertain as to what caused the genetic mutation to occur.
Genes are encoded with instructions for cell growth and development. Mutated genes can lead to abnormally rapid cell growth, and can also cause cells to remain alive longer than necessary, both of which can create an accumulation of excess cells that bind together and form a mass. This is what causes neurofibromatosis tumors to develop. Additionally, neurofibromatosis often affects the cells that produce pigment in the skin; this is what causes the condition’s characteristic café-au-lait skin spots.
Although neurofibromatosis is a genetic disorder and not a type of cancer, some people who have neurofibromatosis also develop malignant conditions, such as peripheral nerve sheath tumors and optic gliomas. Researchers are still investigating what causes these conditions and whether they are related to the same chromosomal abnormalities that cause neurofibromatosis.
At Moffitt Cancer Center, we are actively involved in neurological research, continually working to gain a better understanding of neurofibromatosis and other related tumors. As a result, our clinicians can directly translate the results of their research to improvements in treatment outcomes and quality of life factors for our patients.