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      Giant Intrathoracic Meningocele and Breast Cancer in a Neurofibromatosis Type I Patient

      case-report
      , M.D. 1 , , M.D., Ph.D. 1 , , M.D., Ph.D. 2 , , M.D., Ph.D. 2 ,
      Journal of Korean Neurosurgical Society
      The Korean Neurosurgical Society
      Neurofibromatosis, Meningocele, Breast cancer

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          Abstract

          Intrathoracic meningoceles are relatively rare entities found in patients with neurofibromatosis type I (NF1). Given that both the BRCA1 and NF-1 genes are located on the same long arm of chromosome 17, one would expect concurrence of neurofibromatosis and breast cancer. However, incidence of such co-disorders is very rare in the literature. Here, the authors report a case of a 50-year-old female patient with NF-1 and concurrent cancer of the left breast, who had a huge bilobulated intrathoracic meningocele with thoracic dystrophic scoliosis, treated surgically via a posterior-only approach for the meningocele and spinal deformity in the same setting.

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          Most cited references17

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          Epidemiology of neurofibromatosis type 1.

          The prevalence of neurofibromatosis type 1 (NF1) is about 1/3,000. There are no known ethnic groups in which NF1 does not occur or is unusually common. The prevalence is somewhat higher in young children than in adults, a difference that probably results at least in part from the early death of some NF1 patients. NF1 is fully penetrant in adults, but many disease features increase in frequency or severity with age. The reproductive fitness of NF1 patients is reduced by about one-half. About half of all cases result from new mutations. The estimated rate of new NF1 mutations is unusually high, but the basis for this high mutation rate is not known. Am. J. Med. Genet. (Semin. Med. Genet.) 89:1-6, 1999. Copyright 1999 Wiley-Liss, Inc.
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            Clinical manifestations and management of neurofibromatosis type 1.

            Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with variable expression. The complications are age specific. Neurologic complications include tumors of the peripheral nerves, nerve roots, and plexi; spinal cord compression; dural ectasias; learning disabilities; attention deficit; headaches; seizures; brain tumors; deafness; hydrocephalus; and stroke. High-intensity signals on brain magnetic resonance imaging are a frequent finding without known clinical significance. Most brain tumors are benign and asymptomatic, but malignant brain tumors occur. The major cause of death is malignancy, including brain tumors and malignant peripheral nerve sheath tumors. Management includes genetic counseling, regular eye examinations, and careful physical exams.
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              Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer.

              Neurofibromatosis type 1 (NF1) is a common dominant autosomal disorder caused by mutations in the NF1 gene. The main manifestations of NF1 are café-au-lait spots, neurofibromas, intertriginous freckling, Lisch nodules, and malignancy, including peripheral nerve sheath tumors, central nervous system gliomas, and a variety of other tumors not so clearly defined. The association between NF1 and breast cancer or other gynecologic malignancies seems uncommon and has been scarcely referred in the literature. We describe a family with two females affected by both NF1 and early-onset breast cancer, and a male with NF1. We evaluated whether the concomitance of both disorders could be attributed to a NF1 mutation and its supposed increased risk of breast cancer or to the concurrence of two NF1 and BRCA1/2 germline mutations. Mutation analyses identified a frameshift mutation in BRCA1 and a nonsense mutation in NF1. Our findings stress the importance of considering all phenotypic features in families with both NF1 and breast tumors. To offer a specific risk assessment and management of both conditions, NF1 and BRCA1/2 cancer predisposing genes should be analyzed.
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                Author and article information

                Journal
                J Korean Neurosurg Soc
                J Korean Neurosurg Soc
                JKNS
                Journal of Korean Neurosurgical Society
                The Korean Neurosurgical Society
                2005-3711
                1598-7876
                November 2016
                24 October 2016
                : 59
                : 6
                : 650-654
                Affiliations
                [1 ]Department of Medicine, Graduate School, Kyung Hee University, Seoul, Korea.
                [2 ]Department of Neurosurgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea.
                Author notes
                Address for reprints: Dae Jean Jo, M.D., Ph.D. Department of Neurosurgery, Kyung Hee University Hospital at Gangdong, 892 Dongnam-ro, Gangdong-gu, Seoul 05278, Korea. Tel: +82-2-440-6147, Fax: +82-2-440-7494, apuzzo@ 123456hanmail.net
                Article
                10.3340/jkns.2016.59.6.650
                5106368
                a5fcb954-88d9-4ed7-b7df-3ca55272b77b
                Copyright © 2016 The Korean Neurosurgical Society

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 31 December 2014
                : 09 July 2015
                : 05 October 2015
                Categories
                Case Report

                Surgery
                neurofibromatosis,meningocele,breast cancer
                Surgery
                neurofibromatosis, meningocele, breast cancer

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