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ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Research Article

Indicator Exploration for Cancers in Women with Neurofibromatosis Type 1 - A Multi-Centre Retrospective Study

Xia Wang1*, Renee N. Tousignant2, Albert M. Levin3, Bethany Niell4, Jaishri O. Blakeley5, Maria T. Acosta6 and Bruce R. Korf7

1Genetics, Moffitt Cancer Center, Tampa, Florida, USA

2GeneDx, Gaithersburg, Maryland, USA

3Biostatistics & Research Epidemiology, Henry Ford Health System, Detroit, Michigan, USA

4Diagnostic Imaging, Moffitt Cancer Center, Tampa, Florida, USA

5The Johns Hopkins Comprehensive Neurofibromatosis Center, Baltimore, Maryland, USA

6Gilbert Family Neurofibromatosis Institute, Children’s National Medical Center, Washington D.C., USA

7Department of Genetics, Heflin Center for Genomic Sciences, University of Alabama at Birmingham, Birmingham, Alabama, USA

*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.

Abstract

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.

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