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Li-Fraumeni Syndrome
Surjith Vattoth, MD, FRCR
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Li-Fraumeni syndrome (LFS); Li-Fraumeni-like (LFL) syndromes
              • Synonyms

                • Sarcoma, breast, leukemia, & adrenal syndrome
              • Definitions

                • Autosomal dominant familial cancer syndrome
                  • 70% LFS have TP53 tumor suppressor gene mutations
                  • 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

                                1. 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
                                2. Orr BA et al: An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol. ePub, 2019
                                3. Kratz CP et al: Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 23(11):e38-e45, 2017
                                4. 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
                                5. 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
                                6. Monsalve J et al: Imaging of cancer predisposition syndromes in children. Radiographics. 31(1):263-80, 2011
                                7. Gonzalez KD et al: Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 27(8):1250-6, 2009
                                8. 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
                                Related Anatomy
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                                Related Differential Diagnoses
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                                References
                                Tables

                                Tables

                                KEY FACTS

                                • Terminology

                                  • Imaging

                                    • Top Differential Diagnoses

                                      • Pathology

                                        • Clinical Issues

                                          • Diagnostic Checklist

                                            TERMINOLOGY

                                            • Abbreviations

                                              • Li-Fraumeni syndrome (LFS); Li-Fraumeni-like (LFL) syndromes
                                            • Synonyms

                                              • Sarcoma, breast, leukemia, & adrenal syndrome
                                            • Definitions

                                              • Autosomal dominant familial cancer syndrome
                                                • 70% LFS have TP53 tumor suppressor gene mutations
                                                • 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

                                                              1. 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
                                                              2. Orr BA et al: An update on the central nervous system manifestations of Li-Fraumeni syndrome. Acta Neuropathol. ePub, 2019
                                                              3. Kratz CP et al: Cancer screening recommendations for individuals with Li-Fraumeni syndrome. Clin Cancer Res. 23(11):e38-e45, 2017
                                                              4. 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
                                                              5. 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
                                                              6. Monsalve J et al: Imaging of cancer predisposition syndromes in children. Radiographics. 31(1):263-80, 2011
                                                              7. Gonzalez KD et al: Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 27(8):1250-6, 2009
                                                              8. 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