Current concepts of neurofibromatosis type 1: pathophysiology and treatment
Archives of Craniofacial Surgery
; : 6-16, 2022.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-925546
Responsible library:
WPRO
ABSTRACT
Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising.Abbreviations CALMs, café-au-lait macules; CNs, cutaneous neurofibromas; FDG, 18F-fluoro-deoxy-glucose; MAPK, mitogen-activated protein kinase; MPNSTs, malignant peripheral nerve sheath tumors; MRI, magnetic resonance imaging; NF1, neurofibromatosis type 1; NIH, National Institutes of Health; PET, positron emission tomography; PN, plexiform neurofibromas; TME, tumor microenvironment
Full text:
Available
Database:
WPRIM (Western Pacific)
Language:
English
Journal:
Archives of Craniofacial Surgery
Year:
2022
Document type:
Article