The genetic disorder neurofibromatosis type 1 (NF1) is linked to the development of and mortality for more types of cancer than previously identified, researchers reported in results from a new study. They published the findings in JAMA Network Open.
Using data from 1,607 people with NF1 in the Surveillance, Epidemiology, and End Results database, researchers compared cancer diagnoses and disease-specific survival for each cancer type in people with NF1 with estimates for the general population. They found that overall, people with NF1 were almost 10 times more likely to develop any type of cancer during their lifetime than the general population.
In total, 41.4% of patients with NF1 developed tumors other than neurofibromas, most commonly glioma (18.4%) and malignant peripheral nerve sheath tumors ([MPNST]; 15.1%), and 7.2% developed multiple neoplasms. The researchers also associated previously unidentified cancer types with NF1, including sarcomas, neuroendocrine tumors, ovarian cancer, and melanoma.
Other study findings demonstrated that five-year survival rates were significantly lower for patients with NF1 and undifferentiated pleomorphic sarcoma (20.0%), high-grade glioma ([HGG], 23.1%), MPNST (31.6%), ovarian carcinoma (57.1%), or melanoma (66.7%). Mean age at diagnosis was also significantly lower for patients with NF1 and HGG (27.31 years for NF1 versus 58.42 years for the general population), breast cancer (46.61 years versus 61.71 years), and ovarian cancer (age at diagnosis comparisons not provided).
“As larger studies of NF1-associated cancers emerge, understanding of the neoplasia drivers and mechanisms associated with outcomes among individuals with NF1 may improve,” the researchers concluded. “This study’s results may inform counseling of patients with NF1 and support an interprofessional approach to care.”