Li-Fraumeni syndrome
Synchronous choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome. Radiological studies. Panel a Intravenous contrast-enhanced abdominal CT, coronal view: a solid, heterogeneous tumor in the upper pole of the left kidney is identified (upper, thin arrow), with an adjacent subcapsular perirenal hematoma (lower, thick arrow). The actual diameters were 36 mm × 28 mm × 27 mm in anteroposterior, transverse, and craniocaudal planes. Panel b Cerebral MRI, T2-weighted sequence, axial view. A solid supratentorial intraventricular tumor with left parietal lobe extension is shown. Cystic areas in the basal peripheral and medial aspects are identified .The tumor causes localized ventriculomegaly, vasogenic edema and midline shift. The actual diameters (tumor and cysts) were 81 × 59 × 75 mm in the anteroposterior, transverse, and craniocaudal planes. Panel c Non-enhanced Brain CT scan after shunt insertion. Axial reconstruction. A left parietal tumor with extensive calcification is shown. Ventricular catheter tip is in the right frontal ventricular horn
Synchronous
choroid plexus papilloma and Wilms tumor in a girl, disclosing a Li-Fraumeni syndrome. Radiological studies. Panel a Intravenous contrast-enhanced abdominal CT, coronal view: a solid, heterogeneous tumor in the upper pole of the left kidney is identified (upper, thin arrow), with an adjacent subcapsular perirenal hematoma (lower, thick arrow). The actual diameters were 36 mm × 28 mm × 27 mm in anteroposterior, transverse, and craniocaudal planes. Panel b Cerebral MRI, T2-weighted sequence, axial view. A solid supratentorial intraventricular tumor with left parietal lobe extension is shown. Cystic areas in the basal peripheral and medial aspects are identified .The tumor causes localized ventriculomegaly, vasogenic edema and midline shift. The actual diameters (tumor and cysts) were 81 × 59 × 75 mm in the anteroposterior, transverse, and craniocaudal planes. Panel c Non-enhanced Brain CT scan after shunt insertion. Axial reconstruction. A left parietal tumor with extensive calcification is shown. Ventricular catheter tip is in the right frontal ventricular horn
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siehe auchLi-Fraumeni syndrome is a hereditary cancer syndrome due to mutations in the tumor suppressor gene TP53. Approximately half of affected individuals are thought to develop invasive cancer by 30 years of age .
Associated malignancies
- sarcomas
- CNS tumors
- gliomas
- choroid plexus carcinoma
- medulloblastoma
- neuroectodermal tumors
- leukemia
- breast cancer
- adrenal cortical carcinoma
History and etymology
The disorder was described in 1969 by the cancer geneticists Frederick Li and Joseph Fraumeni, Jr, who were then working at the National Cancer Institute in Maryland, USA .
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