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Li-Fraumeni syndrome

How is it diagnosed?

Diagnosis of LFS is made if three criteria are met:

  • A sarcoma is found in a person under forty-five years of age;
  • This person has a first degree relative diagnosed with any cancer when younger than forty-five years;
  • Another first or second degree relative of the person is diagnosed with any cancer when younger than forty-five years or a sarcoma diagnosed at any age.

Li-Fraumeni Like syndrome (LFL) shares some, but not all of the features listed for LFS. LFL can be diagnosed in an individual if there is a sarcoma at any age with two tumours in first/second degree relatives (or two tumours in one individual - this counts as two individuals) of the following:

  • breast cancer at under 50;
  • or sarcoma at any age;
  • or brain tumour/leukaemia/adrenocortical carcinoma/melanoma/germ cell tumour/stomach cancer/prostate cancer at under 60.

Alternatively, another definition of LFL is a childhood tumour diagnosed at less than twenty years with two other tumours in the family, (sarcoma/breast cancer/brain tumour/leukaemia/adrenocortical tumour at any age and another relative with cancer at less than sixty years).

View What are the causes? What are the causes?  |  How is it treated? View How is it treated?

Medical text written October 2004 by Contact a Family. Approved October 2004 by Dr R Eeles, Reader in Clinical Cancer Genetics and Hon. Consultant in Cancer Genetics and Clinical Oncology, Institute of Cancer Research, Royal Marsden NHS Trust, Sutton, UK.

 

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