case series of nineteen patients with Neurofibromatosis type andcancer

Introduction: Neurofibromatosis type (NF1) is frequent autosomal dominant genetic disorderthat predisposes to the development of benign and malignant tumors. Mutation of the NF1 geneaffects the RAS-MAPK signaling pathway and leads to dysfunction in cell proliferation andinduces tumor development. The most frequent malignancies in patients with NF1 are leukemias,rhabdomyosarcomas, malignant peripheral nerve sheath tumors, gliomas and meningioma. Alsothese patients are at risk for breast cancer.Method: Nineteen cases with clinical diagnosis of neurofibromatosis were confirmed by clinicaldiagnosis. Diagnosis of patients was according to two or more of the following criteria: six or morecafé-au-lait spots, at least 0.5 cm in patients or 1.5 cm in adults, or more neurofibromas on orunder the skin or one plexiform (deep tissue) neurofibroma, axillary (armpit) or inguinal (groin)freckling.Results: 19 patients (11male, 8female), median age was 47±21 years old, range (27-70) wereselected. patients had sarcoma and the most common type was malignant peripheral nerve sheettumor,4 patients had adenocarcinoma of colon,2 patients had GIST, adenocarcinoma of stomach,1malignant melanoma with metastasis to cervical lymph nodes,1 with adenocarcinoma of ovary andone patients with unknown primary and metastasis to peritoneum. In years of surveillance, 7patients were died and 12 patients are still alive. 12 patients had metastasis that of them hadmetastasis at first time of referring for cancer treatment and of them developed metastasis duringcancer treatment and following.Conclusion: Patients with NF1 have higher risk for developing cancer in comparison to normalindividuals. The most common cancer in these patients are sarcomas and colon cancer. Prognosisof patients are very poor and most of them have ominous prognosis and developed distantmetastasis in short time