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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.
References
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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.
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