James Cassidy, MD, PhD, Chief Medical Officer at SpringWorks Therapeutics, discusses how neurofibromatosis type 1 (NF1) is diagnosed and its typical prognosis.
NF1 is a genetic disorder due to mutations in the NF1 gene that leads to a plethora of symptoms including cutaneous neurofibromas, ‘cafe au lait’ spots, plexiform neurofibromas, motor dysfunction, airway dysfunction, bowel/bladder dysfunction, and disfigurement. Learning difficulties, visual impairment, twisting and curvature of the spine, hypertension, and epilepsy may also develop in NF1 patients.
As Dr. Cassidy explains, unlike most ultra-rare cancers, the signs and symptoms of NF1 tend to be familiar to physicians, which often speeds up the time to a proper diagnosis. However, if a patient does not present with visible neurofibromas or has fewer cafe au lait spots, it can take longer for that patient to receive a NF1 diagnosis.
In the clip above, Dr. Cassidy explains that symptoms of NF1 tend to worsen with age. Plexiform neurofibromas, for example, become more common as patients age and, as a result, older NF1 patients tend to experience more pain, motor dysfunction, bowel/bladder dysfunction, and disfigurement. Dr. Cassidy also notes that in extremely rare cases, neurofibromas can become malignant and the mortality rate of these tumors is quite high. Non-malignant neurofibromas are non-lethal unless they are affecting a critical group of nerves.
For more information about NF1 and other rare tumors, visit checkrare.com/cancers/
