Severe Untreated Scoliosis and Early Onset Breast Cancer in a Patient with Neurofibromatosis Associated with a Nonsense Variant of NF1 Gene.
Vivian ReinholdAntti SaarinenEetu SuominenStina M SyrjänenMinna Kankuri-TammilehtoPublished in: Orthopedic research and reviews (2023)
named p.(Trp2348*) which may cause severe dystrophic scoliosis and deteriorate the quality of life and physical function, as well as Her-2 positive breast cancer. Untreated dystrophic scoliosis in patients with NF1 may result in significant spinal deformity and deteriorate the quality of life and physical function. Genetic counseling is recommended in all patients with NF1. Patients need routine follow-up throughout life. Multidisciplinary consulting is warranted in patients with neurofibromatosis 1.
Keyphrases
- early onset
- signaling pathway
- positive breast cancer
- lps induced
- late onset
- pi k akt
- end stage renal disease
- nuclear factor
- oxidative stress
- newly diagnosed
- ejection fraction
- genome wide
- peritoneal dialysis
- spinal cord
- prognostic factors
- case report
- inflammatory response
- smoking cessation
- immune response
- cell proliferation
- gene expression
- spinal cord injury
- hepatitis c virus
- toll like receptor
- drug induced
- hiv infected
- patient reported
- human immunodeficiency virus