At least 1 LFS-associated cancer develops in 50% TP53-mutant carriers by 30 years age
General population has only 1% chance of cancer during this period
15-35% of LFS cancer survivors develop multiple primary cancers over lifetime
First suggested in 1969 by Frederick Li & Joseph F. Fraumeni, Jr. in National Cancer Institute
In families with pediatric rhabdomyosarcoma, 2nd soft tissue sarcomas, & breast tumors in mothers
Designated "familial cancer syndrome" in 1982 by researchers in UK
IMAGING
General Features
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Batalini F et al: Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. Breast Cancer Res. 21(1):107, 2019
Orr BA et al: An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol. ePub, 2019
Kratz CP et al: Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 23(11):e38-e45, 2017
Schlegelberger B et al: A child with Li-Fraumeni syndrome: modes to inactivate the second allele of TP53 in three different malignancies. Pediatr Blood Cancer. 62(8):1481-4, 2015
Agarwal R et al: Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. Discov Med. 18(101):331-9, 2014
Monsalve J et al: Imaging of cancer predisposition syndromes in children. Radiographics. 31(1):263-80, 2011
Gonzalez KD et al: Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 27(8):1250-6, 2009
Melean G et al: Genetic insights into familial tumors of the nervous system. Am J Med Genet C Semin Med Genet. 129C(1):74-84, 2004
At least 1 LFS-associated cancer develops in 50% TP53-mutant carriers by 30 years age
General population has only 1% chance of cancer during this period
15-35% of LFS cancer survivors develop multiple primary cancers over lifetime
First suggested in 1969 by Frederick Li & Joseph F. Fraumeni, Jr. in National Cancer Institute
In families with pediatric rhabdomyosarcoma, 2nd soft tissue sarcomas, & breast tumors in mothers
Designated "familial cancer syndrome" in 1982 by researchers in UK
IMAGING
General Features
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
CLINICAL ISSUES
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
Batalini F et al: Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis. Breast Cancer Res. 21(1):107, 2019
Orr BA et al: An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol. ePub, 2019
Kratz CP et al: Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 23(11):e38-e45, 2017
Schlegelberger B et al: A child with Li-Fraumeni syndrome: modes to inactivate the second allele of TP53 in three different malignancies. Pediatr Blood Cancer. 62(8):1481-4, 2015
Agarwal R et al: Targeted therapy for hereditary cancer syndromes: hereditary breast and ovarian cancer syndrome, Lynch syndrome, familial adenomatous polyposis, and Li-Fraumeni syndrome. Discov Med. 18(101):331-9, 2014
Monsalve J et al: Imaging of cancer predisposition syndromes in children. Radiographics. 31(1):263-80, 2011
Gonzalez KD et al: Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 27(8):1250-6, 2009
Melean G et al: Genetic insights into familial tumors of the nervous system. Am J Med Genet C Semin Med Genet. 129C(1):74-84, 2004
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