Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective StudyXia Wang1*, Renee N. Tousignant2, Albert M. Levin3, Bethany Niell4, Jaishri O. Blakeley5, Maria T. Acosta6 and Bruce R. Korf7
- *Corresponding Author:
- Xia Wang
Genetics, Moffitt Cancer Center, 10920 N. McKinley Drive
Moffitt Outpatient Center, Rm 5101, Tampa, FL 33612, USA
Tel: +1 813-745-1965
Fax: +1 813-745-5445
E-mail: [email protected]
Received date: Feb 27, 2016; Accepted date: Mar 17, 2016; Published date: Mar 24, 2016
Citation: Wang X, Tousignant RN, Levin AM, Niell B, Blakeley JO, et al. (2016) Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study. J Genet Syndr Gene Ther 7:292. doi:10.4172/2157-7412.1000292
Copyright: © 2016 Wang X, et al., This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.