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Li-Fraumeni Syndrome
Gilbert Vézina, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

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

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

              • Autosomal dominant familial cancer syndrome
                • Lifelong ↑ risk of osteosarcoma, soft tissue sarcoma, leukemia, breast cancer, brain tumors, melanoma, adrenal cortical tumors
                • 75% of LFS have loss of function mutations in TP53 tumor suppressor gene

            IMAGING

            • General Features

              • Imaging Recommendations

                DIFFERENTIAL DIAGNOSIS

                  PATHOLOGY

                  • General Features

                    • Staging, Grading, & Classification

                      • Gross Pathologic & Surgical Features

                        • Microscopic Features

                          CLINICAL ISSUES

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  Selected References

                                  1. 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. ePub, 2015
                                  2. 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
                                  3. Monsalve J et al: Imaging of cancer predisposition syndromes in children. Radiographics. 31(1):263-80, 2011
                                  4. Gonzalez KD et al: Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 27(8):1250-6, 2009
                                  5. 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

                                            TERMINOLOGY

                                            • Abbreviations

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

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

                                              • Autosomal dominant familial cancer syndrome
                                                • Lifelong ↑ risk of osteosarcoma, soft tissue sarcoma, leukemia, breast cancer, brain tumors, melanoma, adrenal cortical tumors
                                                • 75% of LFS have loss of function mutations in TP53 tumor suppressor gene

                                            IMAGING

                                            • General Features

                                              • Imaging Recommendations

                                                DIFFERENTIAL DIAGNOSIS

                                                  PATHOLOGY

                                                  • General Features

                                                    • Staging, Grading, & Classification

                                                      • Gross Pathologic & Surgical Features

                                                        • Microscopic Features

                                                          CLINICAL ISSUES

                                                          • Demographics

                                                            • Natural History & Prognosis

                                                              • Treatment

                                                                DIAGNOSTIC CHECKLIST

                                                                • Consider

                                                                  Selected References

                                                                  1. 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. ePub, 2015
                                                                  2. 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
                                                                  3. Monsalve J et al: Imaging of cancer predisposition syndromes in children. Radiographics. 31(1):263-80, 2011
                                                                  4. Gonzalez KD et al: Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations. J Clin Oncol. 27(8):1250-6, 2009
                                                                  5. 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