Herztumor als Manifestation eines Li-Fraumeni-Syndroms

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• 作者：Stefan Rudolf Bertram Schneider (1) (2)
  J. R. Sindermann (1)
  H. Welp (1)
  T. D. T. Tjan (1)
  T. Spieker (1)
  A. Hoffmeier (1)
  H. H. Scheld (1)
  G. Drees (1)
  
• 关键词：Li ; Fraumeni ; Syndrom ; Herztumor ; p53 ; rechtsventrikul盲rer Ausflusstrakt ; Rekonstruktion ; Li ; Fraumeni syndrome ; cardiac tumor ; p53 ; RVOT ; reconstruction
• 刊名：Zeitschrift f篓鹿r Herz-,Thorax- und Gef??chirurgie
• 出版年：2009
• 出版时间：February 2009
• 年：2009
• 卷：23
• 期：1
• 页码：23-26
• 全文大小：552KB
• 参考文献：1. Bachinski LL, Olufemi SE, Zhou X, Wu CC, Yip L, Shete S, Lozano G, Amos CI, Strong LC and Krahe R (2005) Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23. Cancer Res 2:427鈥?31
  2. Bell DW, Varley JM, Szydlo TE, Kang DH, Wahrer DC, Shannon KE, Lubratovich M, Verselis SJ, Isselbacher KJ, Fraumeni JF, Birch JM, Li FP, Garber JE and Haber DA (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 5449:2528鈥?531 CrossRef
  3. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A and Crowther D (1994) Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res 5:1298鈥?304
  4. Boyle JM, Spreadborough AR, Greaves MJ, Birch JM, Varley JM and Scott D (2002) Delayed chromosome changes in gamma-irradiated normal and Li-Fraumeni fibroblasts. Radiat Res 2:158鈥?65 CrossRef
  5. Chompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J and Bonaiti-Pellie C (2001) Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet 1:43鈥?7 jmg.38.1.43">CrossRef
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  12. Senzer N, Nemunaitis J, Nemunaitis M, Lamont J, Gore M, Gabra H, Eeles R, Sodha N, Lynch FJ, Zumstein LA, Menander KB, Sobol RE, and Chada S (2007) p53 therapy in a patient with Li-Fraumeni syndrome. Mol Cancer Ther 5:1478鈥?482 CrossRef
  
• 作者单位：Stefan Rudolf Bertram Schneider (1) (2)
  J. R. Sindermann (1)
  H. Welp (1)
  T. D. T. Tjan (1)
  T. Spieker (1)
  A. Hoffmeier (1)
  H. H. Scheld (1)
  G. Drees (1)
  
  1. Klinik und Poliklinik f眉r Thorax-, Herz- und Gef盲脽chirurgie, Universit盲tsklinikum M眉nster, M眉nster, BRD
  2. Universit盲tsklinikum M眉nster, Herz-Thorax-Gef盲脽chirurgie, Albert Schweitzer Stra脽e 33, 48149, M眉nster, BRD
  

文摘

Li-Fraumeni syndrome is a disease with autosominal dominant heredity, characterized by the appearance of multiple tumors in young patients, first described in 1969 by Frederick P. Li and Joseph F Fraumeni. The cause for the disease is generally a mutation in the p53 gene on chromosome 17. We report a 46-year-old female patient. In February 2008 she presented at our clinic with a cardiac tumor. CT imaging showed a tumor obstructing the right ventricular outflow tract (RVOT) and infiltrated the pulmonary artery. Intraoperatively, the tumor reached the bifurcation of the pulmonary artery with infiltration of the pericardium. To remove the tumor, the pulmonary artery had to be resected. The RVOT was reconstructed with a Contegra漏 graft. Due to the medical history we performed a genetic analysis, which confirmed Li-Fraumeni syndrome. Histology showed a low differentiated pleomorphic sarcoma. After 9 months of follow-up the patient has fully recovered with no tumor recurrence of the heart.