Clinical Characteristics Of Neurofibromatosis: Analysis Of16Cases

Objective: Neurofibromatosis, also named multiple neumfibroma, is an extensive andserious disease with multi-system injured, such as nerve, muscle, bone, and skin. Though theincreasing recognition of neurofibromatosis in recent years, the analysis of this disease withclinical, diagnosis, treatment and prognosis is few. Malignant peripheral nerve sheath tumors(MPNSTs) undergo malignant change in NF1, which had poor prognosis. The recurrenceand progression of tumor lesion are very frequent after surgical resection. It is difficult tomake a diagnosis in the early stage, so the treatment was often delayed. We aimed to discussthe pathogenesis, pathological diagnosis and treatment of neumfibroma, to discuss about therelationship of Neurofibromatosis and MPNSTs, and to improve the diagnostic level andtherapeutic efficacy.Methods: A search of our department between2006and2012revealed16neurofibromatosis, which were reviewed for clinical characteristics, pathology results, andoutcome. The related literature was also reviewed.Results: All patients are NF1,9were male, while7were female. The age range is from13to70. The average age of patients with primary was35.1year-old,3patients withpositive family history,2patients with NF1-associated MPNSTs,1patient with malignantneurofibromatosis. Surgery treatment was operated on15patients. Surgical intervention wasabandoned in1patient because of lung metastases. In all patients with operation, at the neckin2, at the trunk in3, at the limbs in10.1patient had a25kilogram tumor removed from hiship.6patients were recurrence and operated again. None were treated with radiotherapy orchemotherapy.Conclusion: Neurofibromatosis is an autosomal dominant genetic disease, it is acongenital disease which can involve skin, muscle, nerve, internal organs and so on.Neurofibromatosis has a tendency, albeit rare, to undergo malignant change. Active andreasonable treatment should be done according to age, location, degree and type of disease.Treatment is aimed at controlling symptoms and the operation is the major therapy. Acombination of radiotherapy and chemotherapy can also be offered when surgery is notconsidered appropriate. Malignant peripheral nerve sheath tumors (MPNSTs) are a rare formof soft tissue sarcoma. Neurofibromatosis type-1(NF1) is associated with the growth of benign and malignant tumors. Approximately10%of NF1patients develop malignantperipheral nerve sheath tumors (MPNSTs). It is difficult to diagnosis and treat for its lowincidence and nonspecific symptoms. A combination of clinical, pathological, andimmunohistochemistry helps in diagnosing this tumor, especially S-100. Whereaschemotherapy and/or radiotherapy had no promising effect on overall survival rates,complete resection seems to be the most effective treatment for MPNSTs. BecauseNF1-associated MPNSTs are difficult to diagnose clinically, and because surgery is the onlymode of therapy that offers a complete cure, a lifetime follow-up is important, as this wouldenable diagnosis of early lesions amenable to surgical extirpation.