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Malignant Peripheral Nerve Sheath Tumor: molecular pathogenesis and current management considerations.

Department of Surgery, Division of Surgical Oncology and Endocrine Surgery, University of Florida, Gainesville, Florida, USA.
Journal of Surgical Oncology (Impact Factor: 2.84). 03/2008; 97(4):340-9. DOI: 10.1002/jso.20971
Source: PubMed

ABSTRACT Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are rare tumors that often occur in patients with neurofibromatosis 1. Surgical resection represents the mainstay of treatment. Radiation and chemotherapy have a role in selected patients with MPNST. Accurate pathologic diagnosis remains a challenge in many cases of MPNST. There are many recent advances in the understanding of the molecular pathogenesis of MPNST which represent the best opportunities to develop new strategies for management of patients with MPNST.

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    • "Our patient had a tumor huge in size compared to those of previous reports with multiple pleural nodules suggesting metastasis at diagnosis, which indicates delayed diagnosis despite her NF1 stigmata. It is well known that MPNST associated with NF1 shows a poor response to chemotherapy or radiotherapy and the prognosis with residual tumor or metastasis is dismal [1] [2] [18]. Although doxorubicin/ifosfamide-(AI-) based chemotherapy is known to be somewhat effective for adult MPNST and some pediatric cases [4] [23] [24], there is no known standard chemotherapy regimen for treatment of MPNST. "
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    ABSTRACT: Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue malignancy usually found in patients with neurofibromatosis type 1 (NF1) with a poor outcome. Although MPNST can be found in any part of the body including head and neck or extremities, intrathoracic MPNST with or without NF1 is uncommon, especially in children or adolescents. Reported herein is a case of huge intrathoracic MPNST in a 16-year-old girl with NF1, and a brief review of the literature.
    05/2014; 2014:951252. DOI:10.1155/2014/951252
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    • "This effect was not borne out in multivariate analysis, possibly due to the modest sample size. This finding in favor of surgical outcomes is consistent with studies of peripheral MPNST, where complete surgical resection, when possible, remains the mainstay of treatment [2] [28] [29]. In the current study, gross total resection was associated with improved survival when compared to patients with partial resection or biopsy on Kaplan-Meier estimates. "
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    ABSTRACT: Peripheral nerve sheath tumors are uncommon neoplasms that can affect any area of the body. Spinal lesions, especially those that are malignant, pose difficult management challenges, and data regarding these lesions are limited by the disease rarity. This study provides a population-based analysis using the Surveillance, Epidemiology, and End Results (SEER) database, focusing on patient characteristics and treatments. Surgery is associated with improved survival, whereas radiation therapy is associated with decreased survival in this cohort with malignant peripheral nerve sheath tumor in the spine.
    Journal of Clinical Neuroscience 01/2014; 21(7). DOI:10.1016/j.jocn.2014.01.003 · 1.32 Impact Factor
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    • "Diagnosis of neurofibromatosis type 1 (NF1) (1) Six or more cafĂ© au lait macules >5 mm in greatest diameter in prepubertal individuals and >15 mm in greatest diameter in postpubertal individuals (2) Two or more neurofibromas of any type or one plexiform neurofibroma (3) Freckling in the axillary or inguinal regions (Crowe's sign) (4) Optic glioma (5) Two or more Lisch nodules (iris hamartomas) (6) A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudoarthrosis (7) A first-degree relative (parent, sibling, or offspring) with NF1 by the above criteria NF-1 is caused by loss of function mutations in the NF1 gene in 17q11.2. This leads to defective production of neurofibromin, a guanosine triphosphatase-activating protein that helps maintain the protooncogene Ras in its inactive form [3]. Loss of neurofibromin predisposes to increased tumorigenesis, and malignant disease can appear in either childhood or adulthood, with malignant peripheral nerve sheath tumours (MPNSTs) being most common [4]. "
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    ABSTRACT: Introduction. This is the case of a young male patient who presented to his family physician with atypical left foot pain, which was extremely resistant to analgesia and caused significant disability. Despite extensive investigations, the cause of his pain was not identified until 18 months after his initial symptoms, when the official diagnosis of malignant peripheral nerve sheath tumour (MPNST) was made. Detailed review of the patient's past history established the diagnosis of type I neurofibromatosis (NF-1), previously undetected. Discussion. NF-1 is an autosomal dominant genetic disorder caused by loss of function mutations of the NF1 gene in chromosome 17. Patients with this condition are at increased risk for developing MPNSTs which, however, are treatable only in early stages. Conclusion. Although monitoring NF-1 patients for the development of MPNSTs is common practice, the index of clinical suspicion in patients without an established NF-1 diagnosis is low. Any atypical pain in young adults should raise the possibility of this malignancy, and this case illustrates the fact that MPNSTs can be the first manifestation of NF-1 in patients previously undiagnosed with the disease.
    Case Reports in Medicine 01/2012; 2012:479632. DOI:10.1155/2012/479632
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