PEComa in a Young Patient with Known Li-Fraumeni Syndrome

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PEComa in a Young Patient with Known Li-Fraumeni Syndrome

Perivascular epithelioid cells neoplasms (PEComas) constitute a family of rare tumours which have been reported virtually in all anatomic sites. The histological clarification of the malignant potential of these tumours is still problematic despite the proposed risk stratification systems. Li-Fraumeni syndrome (LFS) is caused by a germline mutation in the TP53 tumour suppressor gene. It is a ra...

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p53 therapy in a patient with Li-Fraumeni syndrome.

Li-Fraumeni syndrome is an autosomal dominant disorder that greatly increases the risk of developing multiple types of cancer. The majority of Li-Fraumeni syndrome families contain germ-line mutations in the p53 tumor suppressor gene. We describe treatment of a refractory, progressive Li-Fraumeni syndrome embryonal carcinoma with a p53 therapy (Advexin) targeted to the underlying molecular defe...

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Li-fraumeni syndrome.

Li-Fraumeni syndrome (LFS) is a classic cancer predisposition disorder that is commonly associated with germline mutations of the p53 tumor suppressor gene. Examination of the wide spectrum of adult-onset and childhood cancers and the distribution of p53 mutations has led to a greater understanding of cancer genotype-phenotype correlations. However, the complex LFS phenotype is not readily expl...

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Paraneoplastic autoimmune multiorgan syndrome in a patient with Li Fraumeni syndrome.

patientwith Becker nevus of the lower limb. Subsequently, 11 more cases of Becker nevus of the leg have been reported.4 In 2 patients, the reports explicitly noted the absence of hypertrichosis. In 2 female patients, Becker nevus was associated with localized lipoatrophy: a 14-year-old girl with a softtissue defect on the ventral aspect of her thigh and a 45-yearoldwomanwith lipoatrophyon the r...

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Li-Fraumeni syndrome: a case report.

INTRODUCTION Li-Fraumeni syndrome (LFS) is a very rare familial disease with the predisposition to the development of malignant tumors, such as osteosarcoma, breast cancer, brain neoplasm, leukemia, and adrenal tumors. Inheritance is autosomal dominant and is caused by heterozygous mutations in the p53 gene. The diagnosis is based on clinical criteria: a person under the age of 45 years sufferi...

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ژورنال

عنوان ژورنال: Case Reports in Medicine

سال: 2015

ISSN: 1687-9627,1687-9635

DOI: 10.1155/2015/906981