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http://dx.doi.org/10.5292/jkbjts.2014.20.2.99

Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report  

Oh, Chang-Seon (Department of Orthopedic Surgery, Chonnam National University Hospital)
Lee, Jin-Ho (Department of Orthopedic Surgery, Dong-A Hospital)
Jung, Sung-Taek (Department of Orthopedic Surgery, Chonnam National University Hospital)
Na, Bo-Ram (Department of Orthopedic Surgery, Chonnam National University Hospital)
Publication Information
The Journal of the Korean bone and joint tumor society / v.20, no.2, 2014 , pp. 99-103 More about this Journal
Abstract
Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary disorder characterised by a variety of different tumor types in children and young adults. That contains with a germline mutation in the tumor suppressor gene Tumor Protein p53 (TP53). That is extremely rare. Furthermore, this is sometimes overlooked. Here, we report a case of LFS which was confirmed by mutational analysis of the p53 gene. Also, literature review is intended to improve understanding of this disease entity.
Keywords
Li-Fraumeni syndrome; hereditary tumor; osteosarcoma; family history;
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