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      A Case of Rectal Cancer in a Patient with Neurofibromatosis Type 1

      case-report

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          Abstract

          A rectal cancer was found in a 67-year-old man with a history of neurofibromatosis type 1. A low anterior resection was performed, and he received concurrent chemoradiation for 6 months. Twelve months after the surgery, a tumor was found at the anastomotic site by positron emission tomography-computed tomography and colonoscopy and was mistaken as anastomotic site recurrence. The tumor was confirmed as an inflammatory myofibroblastic tumor through transanal excision.

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          Clinical and genetic aspects of neurofibromatosis 1.

          Eric Friedman, G K Jett (2009)
          Neurofibromatosis 1 is an autosomal dominant disorder characterized by multiple café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with neurofibromatosis 1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy. The diagnosis of neurofibromatosis 1 is usually based on clinical findings. Neurofibromatosis 1, one of the most common Mendelian disorders, is caused by heterozygous mutations of the NF1 gene. Almost one half of all affected individuals have de novo mutations. Molecular genetic testing is available clinically but is infrequently needed for diagnosis. Disease management includes referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, cardiovascular system, spine, or long bones. Surgery to remove both benign and malignant tumors or to correct skeletal manifestations is sometimes warranted. Annual physical examination by a physician familiar with the disorder is recommended. Other recommendations include ophthalmologic examinations annually in children and less frequently in adults, regular developmental assessment in children, regular blood pressure monitoring, and magnetic resonance imaging for follow-up of clinically suspected intracranial and other internal tumors.
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            Mortality in neurofibromatosis 1: an analysis using U.S. death certificates.

            Sonja A. Rasmussen, Quanhe Yang, J.M. Friedman (2001)
            Although neurofibromatosis 1 (NF1) is a relatively common autosomal dominant condition, information about its effect on mortality is limited. We used Multiple-Cause Mortality Files, compiled from U.S. death certificates by the National Center for Health Statistics, for 1983 through 1997. We identified 3,770 cases of presumed NF1 among 32,722,122 deaths in the United States, a frequency of 1/8,700, which is one-third to one-half the estimated prevalence. Mean and median ages at death for persons with NF1 were 54.4 and 59 years, respectively, compared with 70.1 and 74 years in the general population. Results of proportionate mortality ratio (PMR) analyses showed that persons with NF1 were 34 times more likely (PMR=34.3, 95% confidence interval [CI] 30.8-38.0) to have a malignant connective or other soft-tissue neoplasm listed on their death certificates than were persons without NF1. Overall, persons with NF1 were 1.2 times more likely than expected (PMR=1.21, 95% CI 1.14-1.28) to have a malignant neoplasm listed on their death certificates, but the PMR was 6.07 (95% CI 4.88-7.45) for persons who died at 10-19 years of age and was 4.93 (95% CI 4.14-5.82) for those who died at 20-29 years of age. Similarly, vascular disease was recorded more often than expected on death certificates of persons with NF1 who died at <30 years of age (PMR=3.26, 95% CI 1.31-6.71 at age <10 years; PMR=2.68, 95% CI 1.38-4.68 at age 10-19 years; and PMR=2.25, 95% CI 1.46-3.32 at 20-29 years) but not in older persons. This study supports previous findings of decreased life expectancy for persons with NF1 and, within the limitations of death certificates, provides population-based data about NF1 morbidity and mortality that are useful to clinicians caring for patients with NF1.
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              Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

              Hilde Brems, Eline Beert, Thomy de Ravel … (2009)
              Neurofibromatosis type 1 (NF1) is a familial tumour syndrome. Malignant tumours can arise in the nervous and non-nervous system in either childhood or adulthood, with malignant peripheral nerve sheath tumours being most common. Rhabdomyosarcoma and neuroblastoma are paediatric neoplasms that are more common in children with NF1 than in those without the syndrome. Gastrointestinal stromal tumours, somatostatinomas, breast cancer, and phaeochromocytomas are seen in adults with NF1. Several pathways are thought to be involved in the development of tumours associated with NF1: rat sarcoma viral oncogene homologue (RAS)-mitogen activated protein kinase (MAPK), mammalian target of rapamycin (mTOR), and P21 protein (Cdc42/Rac)-activated kinase 1 (PAK1). New insights into the pathogenesis of these tumours will lead to a better understanding of tumour origin and development and will hopefully allow the discovery of new and specific treatments.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Korean Soc Coloproctol
                Journal ID (iso-abbrev): J Korean Soc Coloproctol
                Journal ID (publisher-id): JKSC
                Title: Journal of the Korean Society of Coloproctology
                Publisher: The Korean Society of Coloproctology
                ISSN (Print): 2093-7822
                ISSN (Electronic): 2093-7830
                Publication date (Print): June 2012
                Publication date (Electronic): 30 June 2012
                Volume: 28
                Issue: 3
                Pages: 170-173
                Affiliations
                Department of Surgery, Dankook University College of Medicine, Cheonan, Korea.
                [1 ]Department of Nuclear Medicine, Dankook University College of Medicine, Cheonan, Korea.
                Author notes
                Correspondence to: Hwan Namgung, M.D. Department of Surgery, Dankook University College of Medicine, San-29 Anseo-dong, Dongnam-gu, Cheonan 330-715, Korea. Tel: +82-41-550-3929, Fax: +82-41-556-3878, gsnamgung@ 123456dankook.ac.kr
                Article
                DOI: 10.3393/jksc.2012.28.3.170
                PMC ID: 3398114
                PubMed ID: 22816062
                SO-VID: 14a012b5-37f2-48d7-a1e0-cb9f05aa89e0
                Copyright © © 2012 The Korean Society of Coloproctology
                License:

                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
                Date received : 13 June 2011
                Date accepted : 04 August 2011
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Internal medicine
                Keywords: inflammatory myofibroblastic tumor,neurofibromatosis 1,colorectal cancer
                Data availability:
                ScienceOpen disciplines: Internal medicine
                Keywords: inflammatory myofibroblastic tumor, neurofibromatosis 1, colorectal cancer

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