The Journal of the Korean bone and joint tumor society (대한골관절종양학회지)

The Korean Musculoskeletal Tumor Society (대한근골격종양학회)
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Osteosarcoma with Adenocarcinoma of Lung in Li-Fraumeni Syndrome: A Case Report

골육종과 폐선암을 동반한 리-프라우메니 증후군: 증례 보고

  • 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)
  • 오창선 (전남대학교병원 정형외과) ;
  • 이진호 (동아병원 정형외과) ;
  • 정성택 (전남대학교병원 정형외과) ;
  • 나보람 (전남대학교병원 정형외과)
  • Received : 2014.10.28
  • Accepted : 2014.11.23
  • Published : 2014.12.30
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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.

Li-Fraumeni syndrome은 소아나 청장년층에서 다양한 형태의 종양을 유발할 수 있는 상염색체 우성 유전 질병이다. 이는 종양억제 유전자인 TP53 의 변형에 의해 발생하게 된다. 이 질환은 매우 드물며, 진단되지 못하고 간과되는 경향이 많다. 이에 저자들은 17세, 폐선암을 동반한 근위 경골 골육종 환자에서 가족력을 통해 이 질환을 의심하고, 유전자 검사를 통하여 확진한 증례를 보고하고자 한다.

Keywords

References

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Cited by

  1. Germline TP53 Mutation and Clinical Characteristics of Korean Patients With Li-Fraumeni Syndrome vol.36, pp.5, 2014, https://doi.org/10.3343/alm.2016.36.5.463