Li-Fraumeni sendromu

Kalıtsal - AD

Güçlü kanser eğilimi

Riskler: 45 yaş öncesi sarkom gelişen hastalar; yakınları arasında 45 yaş öncesi herhangi bir kanser hastasının varlığı (30 yaş öncesi %50; 60 yaş sonrası %90)

Sarkomlar: Yumuşak doku sarkomları, osteosarkom, beyin tümörleri
Karsinomlar: Menapoz öncesi meme kanseri, adrenal korteks karsinomu, seyrek rastlanan karsinomlar (akciğer ca, prostat ca, kolon ca, pankreas ca)
Lösemiler

Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Human Mutation, 21: 313-320, 2003
Cohen MM Jr. The new bone biology: Pathologic, molecular, and clinical correlates. American Journal of Medical Genetics, 140A:2646–2706, 2006
Tinat J, Bougeard G, Baert-Desurmont S, et al. 2009 Version of the Chompret criteria for Li Fraumeni syndrome. Journal of Clinical Oncology, 27:e108–109, 2009
Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li-Fraumeni syndrome: Clinical characteristics of families with p53 germline mutations. Journal of Clinical Oncology, 27:1250–1256, 2009
Waldmann J, Patsalis N, Fendrich V, et al. Clinical impact of TP53 alterations in adrenocortical carcinomas. Langenbeck’s Archives of Surgery, 397:209–216, 2012
Melhem-Bertrandt A, Bojadzieva J, Ready KJ, et al. Early onset HER2-positive breast cancer is associated with germline TP53 mutations. Cancer, 118:908–913, 2012
Kratz CP, Achatz MI, Brugières L, et al. Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. Clinical Cancer Research, 23(11):e38-e45, 2017

AnaSayfa

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