Clinical Dysmorphic Syndromes with Tumorigenesis

Czech version

Authors: D. Ilenčíková; M. Čižmárová; A. Krajčiová; S. Požgayová; A. Rybárová; L. Kovács
Authors‘ workplace: II. detská klinika, LF UK a DFNsP Bratislava, Slovenská republika
Published in: Klin Onkol 2012; 25(Supplementum): 39-48

Overview

Genetic alterations cause predisposition to malignancy by increased cancer risk related to constitutional mutations in growth-regulating or DNA repair genes. Some pediatric malignancies are associated with dysmorphic features in several body areas. Through physical examination, we recognise characteristic signs of genetic dysmorphic disorders, such as somatic overgrowth, undergrowth, macrocephaly, microcephaly and dysmorphic changes of the face, eyes, mouth and lips, heart, gastrointestinal tract, urinary tract, genitalia and skeleton. Recognition of a cancer-associated dysmorphic syndrome allows intensive cancer screening and genetic counseling. Therefore, it is recommended that every child with cancer should be examined by a clinical geneticist. Molecular diagnostics of germinal mutations may very effectively detect families at high risk of malignancy and help provide primary prevention. This work presents clinical syndromes with genetic backround and cancer screening recommendations for 18 syndromes with increased cancer risk.

Key words:
genetic dysmorphic syndromes – RAS-MAPK signaling pathway – malignance in childhood

Molecular diagnostics of Rasopathies was supported by The League against Cancer of the sR.

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

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

Submitted:
24. 4. 2012

Accepted:
25. 6. 2012

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