Journal of Genetic Syndromes & Gene Therapy
Open Access
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Xia Wang, Renee N. Tousignant, Albert M. Levin, Bethany Niell, Jaishri O. Blakeley, Maria T. Acosta and Bruce R. Korf
Objective: Neurofibromatosis type 1 (NF1) is a complex hereditary syndrome with multi-systemic involvement and propensity to develop a variety of tumors. Despite the increased risk for malignant neoplasms and shortened life-span, there is no targeted cancer surveillance strategy. Clinical features of NF1 and family history may be associated with occurrence of certain neoplasms and serve as indicators for targeted surveillance. Methods: This multi-centre retrospective study reviewed the records of 423 women with NF1. The associations between neoplasms, clinical features and family history were analyzed. Results: The occurrence of breast cancers is positively associated (p = 0.004) with family history of any cancers, 9.6% (12/125) with family history vs. 2.7% (8/298) without. An association between NF1 clinical phenotypes (i.e. dermal neurofibroma burden) and cancer was not observed. However, the rate of malignant peripheral sheath tumor (MPNST) was significantly higher (p = 0.049) in women with plexiform neurofibroma (PN) than women without, 7.9% (11/139) vs. 3.14% (7/223). Women with learning disabilities have a higher rate (p = 0.019) of central nervous system (CNS) tumors including optic glioma (OPG) than women without, 22.2% (20/90) vs.11.2% (21/187). European Americans (EAs) are significantly more likely (p = 0.002) to develop CNS tumors (21.2%, 41/193) than African Americans (AAs) (6.8%, 6/88). Conclusion: Family history of any cancers, preexisting PN, learning disability and EA ancestry is linked to higher risk of breast cancer, MPNST, and CNS tumors/OPG, respectively.