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9158.pdf (603.26 KB)
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Impact of Plexiform Neurofibromas in Adult Patients with Neurofibromatosis Type 1
Author Info
Stueber, Sarah E
Permalink:
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396532689
Abstract Details
Year and Degree
2014, MS, University of Cincinnati, Medicine: Genetic Counseling.
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic conditions diagnosed today. Up to 50% percent of patients with NF1 will develop a specific type of neurofibroma tumor called plexiform neurofibromas (PNFs). PNFs develop along the nerve endings in individuals with NF1 and may develop along multiple nerve systems. Though typically benign, these tumors can cause significant complications. However, little is understood about the natural history of NF1 with PNF. This study was a retrospective chart review of adult patients that investigated rates of surgery and development of malignancy in patients with NF1 and PNF. Results demonstrated that patients with greater numbers of PNFs were more likely to have surgery (p = 0.02). PNFs located in the head and neck and paraspinal region had higher frequency of surgeries compared to those located in the pelvis or extremities (p = 0.026). In our patient population malignancies arising from PNFs were significantly more likely to occur in a core location as opposed to in the extremities or head/neck (P<0.05). Taken together these results suggest that the adult population has significant tumor morbidity associated with PNFs in relation to surgery rates and malignancies. Thus, this study highlights the need of adult NF patients with PNF to have ongoing monitoring of their tumors. Future studies will be needed to determine modality and intervals of screening for best outcomes.
Committee
Robert Hopkin, M.D. (Committee Chair)
Katherine Healy, M.S. (Committee Member)
Lisa Martin, Ph.D. (Committee Member)
Elizabeth Schorry, M.D. (Committee Member)
Pages
34 p.
Subject Headings
Genetics
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Citations
Stueber, S. E. (2014).
Impact of Plexiform Neurofibromas in Adult Patients with Neurofibromatosis Type 1
[Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396532689
APA Style (7th edition)
Stueber, Sarah.
Impact of Plexiform Neurofibromas in Adult Patients with Neurofibromatosis Type 1.
2014. University of Cincinnati, Master's thesis.
OhioLINK Electronic Theses and Dissertations Center
, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396532689.
MLA Style (8th edition)
Stueber, Sarah. "Impact of Plexiform Neurofibromas in Adult Patients with Neurofibromatosis Type 1." Master's thesis, University of Cincinnati, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396532689
Chicago Manual of Style (17th edition)
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Document number:
ucin1396532689
Download Count:
229
Copyright Info
© 2014, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.