PPM - Neurofibromatosis Type 2 (NF2)-Introduction and References

Introduction and References
Pdf Summary
Neurofibromatosis Type 2 (NF2) is a genetic disorder characterized by the development of multiple tumors in the central nervous system. The main focus of care for individuals with NF2 is surveillance for early detection of complications and treatments to prevent or delay hearing loss, seizures, and neurological deficits caused by tumors affecting the nervous system. Learning objectives for healthcare providers include accurately diagnosing NF2, conducting regular surveillance through annual MRI scans, hearing evaluations, and vision monitoring, and providing appropriate genetic counseling considering the high level of somatic mosaicism in NF2 individuals caused by a de novo pathogenic variant.<br /><br />NF2 is characterized by the development of bilateral vestibular schwannomas, which lead to progressive hearing loss. Other tumors associated with NF2 can affect cranial and peripheral nerves, spinal cord, and the eyes. Diagnosis of NF2 is based on specific criteria including the presence of vestibular schwannomas, other tumors, family history, and genetic testing. Distinguishing NF2 from other conditions with similar symptoms can be challenging, and genetic testing is often necessary to confirm the diagnosis.<br /><br />The management of NF2 primarily involves surgical removal of tumors and preservation of hearing and neurological function. Radiation therapy and targeted therapies are also being used to treat vestibular schwannomas. Regular monitoring of individuals with NF2 is essential, including history and physical examinations, audiology and ophthalmology evaluations, and brain and spine MRI scans. The frequency of follow-up imaging depends on the presence of tumors.<br /><br />References:<br /><br />1. Smith MJ, et al. Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology. 2017;88(1):87.<br /><br />2. Evans DGR, et al. Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders. Clin Cancer Res. 2017;23:e54.<br /><br />3. Pathmanaban ON, et al. Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults. JAMA Neurol. 2017;74:1123-1129.<br /><br />4. Evans DG. Neurofibromatosis 2. GeneReviews®. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1201/
Keywords
Neurofibromatosis Type 2
genetic disorder
central nervous system
tumors
surveillance
complications
hearing loss
seizures
neurological deficits
diagnosis