Li-Fraumeni Syndrome – a Proposal of Complex Prevention Care for Carriers of TP53 Mutation with Total-Body MRI

Česká verzia

Authors: L. Foretová ¹; J. Štěrba ⁴; P. Opletal ³; V. Mach ⁵; J. Lisý ⁸; K. Petrakova ²; M. Palacova ²; M. Navratilova ¹; R. Gaillyová ⁶; A. Puchmajerová ⁷; A. Křepelová ⁷; E. Macháčková ¹
Authors place of work: Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno ¹; Klinika komplexní onkologické péče, Masarykův onkologický ústav, Brno ²; Oddělení radiologie, Masarykův onkologický ústav, Brno ³; Klinika dětské onkologie, Masarykův onkologický ústav, Brno ⁴; Klinika dětské radiologie, Masarykův onkologický ústav, Brno ⁵; Oddělení lékařské genetiky, Fakultní nemocnice Brno ⁶; Ústav biologie a lékařské genetiky, Masarykův onkologický ústav, Brno ⁷; Klinika zobrazovacích metod, Fakultní nemocnice v Motole, Praha ⁸
Published in the journal: Klin Onkol 2012; 25(Supplementum): 49-54

Summary

Li-Fraumeni syndrome (LFS) is one of the most serious hereditary cancer syndromes with high risk of malignancy already in childhood. Adrenocortical carcinoma, brain tumor, leukemia, sarcoma are the most frequent malignancies in children. Early breast cancer, brain tumor, sarcoma, skin cancer, gastrointestinal, lung, gynecological, hematological and other malignancies can be seen in adults. Predictive testing in families with detected LFS and TP53 mutation is offered from the age of 18 for various reasons. One of the most important reasons is a very limited effectivity of prevention especially in children, also the possible risk of psychological harm to the child and his family caused by the diagnosis of this syndrome. Progress in diagnostic methods, especially total body MRI, enables to propose preventive care for early cancer diagnoses for children and adults. Biochemical tests, ultrasound, MRI may improve survival of these high risk individuals and support the possibility of predictive testing in children.

Key words:
TP53 gene – Li-Fraumeni syndrome – magnetic resonance imaging – MRI – prevention – tumors

This study was supported by grants of the European Regional Development Fund and grants of the Czech republic´s national budget.

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.

Submitted:
27. 5. 2012

Accepted:
25. 6. 2012

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