Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report.
10.5292/jkbjts.2014.20.2.99
- Author:
Chang Seon OH
1
;
Jin Ho LEE
;
Sung Taek JUNG
;
Bo Ram NA
Author Information
1. Department of Orthopedic Surgery, Chonnam National University Hospital, Gwangju, Korea. stjung@jnu.ac.kr
- Publication Type:Case Report
- Keywords:
Li-Fraumeni syndrome;
hereditary tumor;
osteosarcoma;
family history
- MeSH:
Adenocarcinoma*;
Child;
Genes, p53;
Genes, Tumor Suppressor;
Germ-Line Mutation;
Humans;
Li-Fraumeni Syndrome*;
Lung*;
Osteosarcoma*;
Young Adult
- From:The Journal of the Korean Bone and Joint Tumor Society
2014;20(2):99-103
- CountryRepublic of Korea
- Language:English
-
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.
