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Li-Fraumeni syndrome
What are the symptoms?
Many individuals with LFS are first affected in childhood and a hallmark of the syndrome is onset of cancer, particularly a cancer called a sarcoma before the age of forty-five. Less than four hundred families world-wide have been diagnosed with LFS.
The types of cancers affecting individuals with LFS include sarcomas (soft tissue tumours), osteosarcomas (bone cancer), brain tumours, breast cancer, adrenocortical carcinomas (adrenal gland cancer) and leukaemia. However, cancers of other organs can also occur.
Due to the wide range of types of cancer involved with LFS, clinics offer an "SOS" system whereby any symptom that lasts longer than three weeks should be discussed with the specialist cancer genetics clinic. This enables families to allow everyday symptoms that affect the general population to subside but at the same time, to follow up any symptoms that could be significant as part of the syndrome. In particular, any lump in a part of the body that persists for longer than three weeks should be checked. As there may be interaction with irradiation in this syndrome, it is recommended that, if possible, the investigations and treatment use modalities that avoid radiation e.g. MRI or ultrasound and surgery respectively. Sometimes, this is not possible as the best test/treatment may involve x-rays and, in this instance, it is better to make a diagnosis and give the treatment.
Background
| What are the causes? 
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