gms | German Medical Science

Objective: Neurofibromatosis type 2 (NF2) is an autosomal-dominant hereditary disease characterized by multiple tumours of the central and peripheral nervous system. NF2 is associated with a considerable morbidity and mortality. However, little data is available on life-expectancy, negative prognostic factors and causes of death in patients with this genetic variation.

Methods: In this multi-center retrospective study, we screened patient records from three dedicated NF2 centers and identified deceased individuals. We evaluated these patients’ records with regard to age at death, cause of death, location of death and clinical presentation at last hospital/out-patient visit. Approval from the local ethics committees was granted.

Results: 55 deceased patients were identified (n=27 female, n=28 male). Deaths were recorded between 1997 and 2019. The median age at diagnosis was 26 years (range 0.5 – 64 years). The median age at death was 40 years (range 1.5 – 86 years). 89% of patients had a high intracranial and spinal tumor load with bilateral vestibular schwannomas, > 3 further intracranial tumours and multiple spinal tumours. Caudal cranial nerves were affected by tumours in 27% of cases. Cachexia was recorded in 18% of patients. 23% of patients had hydrocephalus. Considerable vision impairment was recorded in 51% of cases, considerable hearing impairment was recorded in 87% of cases. Depression was recorded in 30% of patients. 2 patients developed malignancies: 1 of them had high-grade meningiomas, 1 had a basalioma. The cause of death was recorded in 19 cases: 8 patients died due to direct effects of brain tumors, while 2 patients died in the postoperative phase after brain tumor surgery. Pulmonary infections were the cause of death in 3 cases. Another 3 patients committed suicide. 3 patients died of cardiac insufficiency and 2 fell victim to road traffic accidents (RTA). The location of death was recorded in 13 cases: 5 patients died at home, 5 died in a hospital, the 2 RTA victims died on-scene and 1 patient died in a hospice.

Conclusion: This study shows that not only the direct effects of brain tumors such as raised ICP and strokes may be lethal for NF2 patients, but also indirect effects such as lower cranial nerve defects and the psychological strain associated with the disease can be life-threatening. Therefore, a tightly-woven interdisciplinary approach is key to the treatment of NF2 patients.