Similar Diseases
- LFS2
- 14q32 duplication syndrome
- Meier-Gorlin syndrome 6
- Chromosome 2q31.1 duplication syndrome
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
- Heimler syndrome 2
- Chromosome 15Q13-Q14 Duplication Syndrome, 40-Kb
- Waardenburg syndrome type 2A
- Setting-Sun phenomenon, familial benign
- SGMRT2
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Results for Query ‹ LFS2 screening ›
Li–Fraumeni syndrome – Management | Chompret criteria
A 2009 revision of the traditional Chompret criteria for screening has been proposed:
A proband who has:
- tumor belonging to the LFS tumor spectrum - soft tissue sarcoma, osteosarcoma, pre-menopausal breast cancer, brain tumor, adrenocortical carcinoma, leukemia or lung bronchoalveolar cancer - before age 46 years;
and at least one of the following:
- at least one first or second degree relative with an LFS tumour (except breast cancer if the proband has breast cancer) before age 56 years or with multiple tumours
- a proband with multiple tumours (except multiple breast tumours), two of which belong to the LFS tumour spectrum and the first of which occurred before age 46 years
- a proband who is diagnosed with adrenocortical carcinoma or choroid plexus tumour, irrespective of family history
Li–Fraumeni syndrome – Management
Genetic counseling and genetic testing are used to confirm that somebody has this gene mutation. Once such a person is identified, early and regular screenings for cancer are recommended for him or her as people with Li–Fraumeni are likely to develop another primary malignancy at a future time (57% within 30 years of diagnosis).