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Table 1 LFS criteria and LFLS definitions

From: Rectal leiomyosarcoma as the initial phenotypic manifestation of Li–Fraumeni-like syndrome: a case report and review of the literature

LFS—classic criteria [8, 18, 19]

• Soft tissue sarcoma before 45 years of age

and

• First-degree relative with cancer before 45 years of age

and

• A first- or second-degree relative with any cancer before 45 years of age or a sarcoma at any age

LFS—Chompret criteria [8, 19, 20]

• Tumor of the LFS spectrum before 46 years of age

and at least one first- or second-degree relative with a typical LFS neoplasm before age 56 or with multiple tumors

or

• The presence of various tumors (other than multiple breast neoplasms) in the same individual, two of which belong to the LFS spectrum and the first of which occurs before 46 years of age

or

• The presence of ACC or choroid plexus tumor, regardless of family history

or

• Woman with a personal history of breast cancer before 36 years of age and who are negative for the pathogenic variants in BRCA1 and BRCA2

LFLS—Birch definition [21]

• An individual diagnosed with childhood cancer, sarcoma, brain tumor, or ACC before 45 years of age

and

• First- or second-degree relative with LFS spectrum cancer at any age

and

• First- or second-degree relative with any cancer before 60 years of age

LFLS—Eeles definition [23]

• At least two first- or second-degree relatives of any age, diagnosed with LFS-spectrum cancer

or

• Sarcoma at any age

and at least two other tumors diagnosed in one or more first- or second-degree relatives: breast cancer before 50 years of age, LFS-spectrum cancer before 60 years, or a sarcoma at any age

  1. LFS Li-Fraumeni syndrome, LFLS Li-Fraumeni-like syndrome, ACC Adrenocortical carcinoma