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Avulsion Fracture of the Anterior Atlas
Joseph Junewick, MD FACR
over 10 years ago
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ARSt Case Repository

Hepatoblastoma - Li Fraumini Syndrome

Case Detail

Anatomy: Gastrointestinal
Joseph Junewick, MD FACR
Diagnostic Category: Neoplasia Malignant
Created: over 9 years ago
Updated: over 9 years ago
Tags: PEDS
Modality/Study Types: US CT
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3 year old male with Li Fraumini syndrome.

Case Images




US – Mildly hyperemic ovoid right hepatic mass.

CT – Poorly defined mass in the inferior right hepatic lobe with bizarre vascularity.


Li Fraumeni syndrome is a rare autosomal dominant syndrome resulting in germline mutations of the tumor suppressor gene p53 and increased incidence of cancer. Li Fraumeni syndrome is characterized by a variety of cancers (most often breast cancer, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, melanoma and adrenal cortical carcinoma), a young age at onset of malignancies, and the potential for multiple primary sites of cancer during the lifetime of affected individuals. Individuals with Li Fraumeni syndrome have a lifetime cancer risk as high as 85%, with more than half of all tumors occurring before age 30 years. Since there is potential increased cancer risk due to ionizing radiation on Li Fraumeni syndrome cells with p53 defects, US and MR should be used for surveillance whenever feasible.


Monsalve J, Kapur J, Malkin D, et al. Imaging of Cancer Predisposition Syndromes in Children. RadioGraphics (2011); 31: 263-280.

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