Diagnosis
Clinical criteria
- A proband diagnosed with sarcoma before age 45 years
- A first-degree relative with any cancer diagnosed before age 45 years
- Another first-degree or second-degree relative of the same genetic lineage with any cancer diagnosed before age 45 years or sarcoma at any age.
Lab diagnosis
DNA analysis: Evaluation for constitutional p53 mutation in cancer patients with family history or presentation suggestive of potential LFS cancer predisposition is warranted to aid in predicting future risk of other primary malignancies for the patient and other family members.
Although the majority of reported LFS-related p53 mutations occur in exons 5-8, optimal DNA analysis should include evaluation of the entire coding and noncoding portions of the gene (exons 1-11) by automated sequencing methods.
Since p53 mutations are constitutional (i.e. germline), DNA derived from any clinical source can potentially be evaluated. Peripheral blood leukocytes are the most easily obtained source, typically collected in citrate or heparin anticoagulant tubes.
