Table 1 Description of different criteria for Li-Fraumeni Syndrome (LFS) or Li-Fraumeni-like (LFL) Syndrome
Criteria | Description | |
|---|---|---|
LFS classic | Li-Fraumeni [4] | Proband diagnosed with sarcoma before 45 years, AND |
· a first-degree relative with cancer before 45 years, AND | ||
· another first- or second-degree relative with any cancer diagnosed under the age of 45 years or with sarcoma at any age | ||
LFL | Chompret original [9] | 1. Proband with a ”core cancer” before 36 years, AND at least one first- or second-degree relative with |
· cancer (other than breast cancer if the proband has breast cancer) under the age of 46 years OR | ||
· multiple primaries at any age | ||
2. Proband with multiple primary tumours, two of which are “core cancers”, with the initial cancer occurring before 36 years, regardless of the family history | ||
3. Proband with adrenocortical carcinoma at any age of onset, regardless of the family history | ||
LFL | Chompret 2009 update [10] | 1. Proband with a tumour belonging to the LFS tumour spectrum before 46 years, AND |
· at least one first- or second-degree relative with cancer (other than breast cancer if the proband has breast cancer) under the age of 56 years OR | ||
· a relative with multiple primaries at any age | ||
2. Proband with multiple primary tumours (except multiple breast tumours), two of which belong to the LFS spectrum, with the initial cancer occurring before the age of 46 years, regardless of the family history | ||
3. Proband with adrenocortical carcinoma or plexus tumour at any age of onset, regardless of the family history | ||
LFL | Birch [6] | Proband with any childhood cancer or sarcoma, brain tumour, or adrenocortical carcinoma diagnosed under 45 years of age, AND |
· a first- or second-degree relative with a typical LFS-related cancer (“core cancers” and leukaemia) diagnosed at any age, AND | ||
· a first- or second-degree relative in the same genetic lineage with any cancer diagnosed under the age of 60 years | ||
LFL | Eeles [7] | Two different tumours that are “core cancers” or leukaemia in first- or second-degree relatives at any age |
Li-Fraumeni Syndrome | NCCN-Guidelines since 2010 | Classic LFS-Criteria OR LFL according to Chompret 2001/2009 OR |
Early onset breast cancer: Individual with breast cancer <30 years of age with a negative BRCA1/BRCA2 test, especially if there is a family history of sarcoma, brain tumour, adrenocortical carcinoma or chorid plexus carcinoma |