J Korean Bone Joint Tumor Soc.  2014 Dec;20(2):99-103. 10.5292/jkbjts.2014.20.2.99.

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

Affiliations
  • 1Department of Orthopedic Surgery, Chonnam National University Hospital, Gwangju, Korea. stjung@jnu.ac.kr
  • 2Department of Orthopedic Surgery, Dong-A Hospital, Gwangju, Korea.

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.

Keyword

Li-Fraumeni syndrome; hereditary tumor; osteosarcoma; family history

MeSH Terms

Adenocarcinoma*
Child
Genes, p53
Genes, Tumor Suppressor
Germ-Line Mutation
Humans
Li-Fraumeni Syndrome*
Lung*
Osteosarcoma*
Young Adult

Figure

  • Figure 1. Plain radiographs showed the 4 cm sized eccentric bone-destructive lesion with permiative pattern on right proximal tibia and the Codman's triangle on lateral cortex.

  • Figure 2. On magnetic resonance imaging, there was 6×3 cm sized mass that have heterogenous signal intensity on T2-weighted (A) and T1-weighted image (B) GD (C) on lateral metaphysis of the proximal tibia. The periosteal reaction and the extraosseous formation was observed around the lateral cortex.

  • Figure 3. There are several small peripheral uncharacterized nodules in left lower lobe and right lower lobe of lung on enhanced chest CT.

  • Figure 4. On PET-CT imaging, there are multiple nodules in both lobe of lung.

  • Figure 5. Pedigree of family revealed multiple early onset cancer, including colon cancer, gastric cancer, neuroendocrine cancer and breast cancer.

  • Figure 6. Wide marginal excision and tumor prosthesis reconstruction was performed. Post-operative 2 years, there is no radiologic abnormality change of the implant.


Reference

References

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