eMedicine Specialties > Pediatrics: General Medicine > Oncology

Li-Fraumeni Syndrome: Treatment & Medication

Author: Kavita Patel, MD, Clinical Postdoctoral Fellow in Pediatric Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine
Coauthor(s): Kathleen M Sakamoto, MD, PhD, Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Department of Pathology and Laboratory Medicine, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology, UCLA; Gary R Jones, MD, Associate Medical Director, Clinical Development, Berlex Laboratories
Contributor Information and Disclosures

Updated: Dec 1, 2008

Treatment

Medical Care

No clear evidence suggests that individuals with Li-Fraumeni syndrome (LFS) diagnosed with cancers should be treated differently than other patients with cancer through the modalities of chemotherapy, radiation, or surgery. However, many studies are being conducted regarding specific mutations, in regards to prognosis and response to therapy. Specifics of therapy are related to the type of cancer.

Based on expert opinions and limited evidence, the National Comprehensive Cancer Network has provided an algorithm for the testing and management of Li-Fraumeni syndrome in adults.

Surgical Care

Prophylactic mastectomy is controversial in the Li-Fraumeni syndrome population, although it may be considered on a case-by-case basis depending on the degree of risk and reconstructive options available.

Consultations

Strongly consider genetic counseling for families with Li-Fraumeni syndrome to ensure appropriate understanding of potential risk and possible evaluation of genetic predisposition markers.

More on Li-Fraumeni Syndrome

Overview: Li-Fraumeni Syndrome
Differential Diagnoses & Workup: Li-Fraumeni Syndrome
Treatment & Medication: Li-Fraumeni Syndrome
Follow-up: Li-Fraumeni Syndrome
References

References

  1. Malkin D, Li FP, Strong LC, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. Nov 30 1990;250(4985):1233-8. [Medline].

  2. Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ. Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families. Cancer Res. Aug 1 1997;57(15):3245-52. [Medline].

  3. Tabori U, Nanda S, Druker H, Lees J, Malkin D. Younger age of cancer initiation is associated with shorter telomere length in Li-Fraumeni syndrome. Cancer Res. Feb 15 2007;67(4):1415-8. [Medline].

  4. Shlien A, Tabori U, Marshall CR, et al. Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A. Aug 12 2008;105(32):11264-9. [Medline].

  5. Le Bihan C, Moutou C, Brugieres L, Feunteun J, Bonaiti-Pellie C. ARCAD: a method for estimating age-dependent disease risk associated with mutation carrier status from family data. Genet Epidemiol. 1995;12(1):13-25. [Medline].

  6. Allain DC. Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn. Sep 2008;10(5):383-95. [Medline].

  7. Birch JM, Blair V, Kelsey AM, et al. Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome. Oncogene. Sep 3 1998;17(9):1061-8. [Medline].

  8. Birch JM, Hartley AL, Marsden HB, et al. Excess risk of breast cancer in the mothers of children with soft tissue sarcomas. Br J Cancer. Mar 1984;49(3):325-31. [Medline].

  9. Boyle JM, Mitchell EL, Greaves MJ, et al. Chromosome instability is a predominant trait of fibroblasts from Li-Fraumeni families. Br J Cancer. Jun 1998;77(12):2181-92. [Medline].

  10. Cohen RJ, Curtis RE, Inskip PD, Fraumeni JF Jr. The risk of developing second cancers among survivors of childhood soft tissue sarcoma. Cancer. Jun 1 2005;103(11):2391-6. [Medline].

  11. Culler D, Grimes SJ, Acheson LS, Wiesner GL. Cancer genetics in primary care. Prim Care. Sep 2004;31(3):649-83, xi. [Medline].

  12. Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol. Jan 10 2005;23(2):276-92. [Medline].

  13. Hartley AL, Birch JM, Marsden HB, Harris M. Breast cancer risk in mothers of children with osteosarcoma and chondrosarcoma. Br J Cancer. Nov 1986;54(5):819-23. [Medline].

  14. Heyn R, Haeberlen V, Newton WA, et al. Second malignant neoplasms in children treated for rhabdomyosarcoma. Intergroup Rhabdomyosarcoma Study Committee. J Clin Oncol. Feb 1993;11(2):262-70. [Medline].

  15. Hisada M, Garber JE, Fung CY, et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. Apr 15 1998;90(8):606-11. [Medline].

  16. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?. Ann Intern Med. Oct 1969;71(4):747-52. [Medline].

  17. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. Sep 15 1988;48(18):5358-62. [Medline].

  18. Li FP, Garber JE, Friend SH, et al. Recommendations on predictive testing for germ line p53 mutations among cancer-prone individuals. J Natl Cancer Inst. Aug 5 1992;84(15):1156-60. [Medline].

  19. Olivier M, Goldgar DE, Sodha N, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. Oct 15 2003;63(20):6643-50. [Medline].

  20. Peterson SK, Pentz RD, Blanco AM, et al. Evaluation of a decision aid for families considering p53 genetic counseling and testing. Genet Med. Apr 2006;8(4):226-33. [Medline].

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Further Reading

Keywords

Li-Fraumeni syndrome, LFS, LFL kindred, p53 mutation, Li-Fraumeni–like kindred, germline mutation, p53 tumor suppressor gene mutation, TP53, TP53 tumor suppressor gene mutation, breast cancer, brain tumor, acute leukemia, soft tissue sarcoma, osteosarcoma, adrenal cortical carcinoma, sarcoma, Ewing sarcoma

Contributor Information and Disclosures

Author

Kavita Patel, MD, Clinical Postdoctoral Fellow in Pediatric Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine
Kavita Patel, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, Phi Beta Kappa, and Texas Medical Association
Disclosure: Nothing to disclose.

Coauthor(s)

Kathleen M Sakamoto, MD, PhD, Professor and Chief, Division of Hematology-Oncology, Vice-Chair of Research, Mattel Children's Hospital at UCLA; Department of Pathology and Laboratory Medicine, Jonsson Comprehensive Cancer Center, David Geffen School of Medicine at UCLA and California Nanosystems Institute and Molecular Biology, UCLA
Kathleen M Sakamoto, MD, PhD is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Gary R Jones, MD, Associate Medical Director, Clinical Development, Berlex Laboratories
Gary R Jones, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Pediatric Hematology/Oncology, and Western Society for Pediatric Research
Disclosure: Nothing to disclose.

Medical Editor

Stephan A Grupp, MD, PhD, Director, Stem Cell Biology Program, Department of Pediatrics, Division of Oncology, Children's Hospital of Philadelphia; Associate Professor of Pediatrics, University of Pennsylvania
Stephan A Grupp, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Timothy P Cripe, MD, PhD, Professor of Pediatric Hematology/Oncology, University of Cincinnati; Director, Translational Research Trials Office, Department of Pediatrics, Cincinnati Children's Hospital Medical Center
Timothy P Cripe, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Samuel Gross, MD, Professor Emeritus, Department of Pediatrics, University of Florida, Clinical Professor, Department of Pediatrics, UNC, Adjunct Professor, Department of Pediatrics, Duke University
Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA, Executive Director, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University
Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

 
 
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