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Neurofibromatosis (NF1, NF2)- radiation sensitivity

Neurofibromatosis (NF1, NF2)

  • Neurofibromatosis (NF) is one of the most common autosomal dominant hereditary diseases and is divided into two subtypes, both of which are two different diseases but have many similarities in addition to their inheritance. Both types are characterized by a high de novo mutation rate.
  • Neurofibromatosis 1 (NF1), also known as Recklinghausen's disease, manifests itself in particular with typical café-au-lait spots, numerous benign neurofibromas of nerves.
  • Neurofibromatosis 2 (NF2) is characterized by the development of unilateral or bilateral vestibular schwannomas, as well as frequent meningiomas or gliomas of the CNS. (Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspectiveNeurofibromatosis).

Own studies for radiation sensitivity:

  • Six patients with neurofibromatosis have already been examined. The patients with NF1 had borderline to very high radiosensitivity on examination, while the patient with NF of unknown type had radiosensitivity within the normal range.

Literature on radiosensitivity measurements:

Literature on clinical case reports/consequences of radiation:

Conclusion regarding testing for radiation sensitivity:

In NF, the high secondary malignancy risk is in the foreground. Patients usually have a borderline or slightly increased radiation sensitivity with regard to deterministic risks. Radiotherapy is feasible with regard to undesirable treatment consequences after adjustment of the fraction dose.

On the other hand, there is a high risk of secondary carcinoma. The indication should therefore be limited to cases where no alternative therapy is possible.
We are happy to test these patients in order to make a treatment decision or therapy possible. With our test, however, we can only test the deterministic risk of neurofibromatosis, but not the stochastic risk.