Chapter 4. Genetic Dysmorphic Syndromes Leading to Tumorigenesis

  1. Prof. Dr. Heike Allgayer PhD2,
  2. Prof. Dr. Helga Rehder3 and
  3. Prof. Dr. Simone Fulda4
  1. Gabriele Gillessen-Kaesbach

Published Online: 21 AUG 2009

DOI: 10.1002/9783527627523.ch4

Hereditary Tumors: From Genes to Clinical Consequences

Hereditary Tumors: From Genes to Clinical Consequences

How to Cite

Gillessen-Kaesbach, G. (2008) Genetic Dysmorphic Syndromes Leading to Tumorigenesis, in Hereditary Tumors: From Genes to Clinical Consequences (eds H. Allgayer, H. Rehder and S. Fulda), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527627523.ch4

Editor Information

  1. 2

    University of Heidelberg and DKFZ (German Cancer Research Center) Heidelberg, Medical Faculty Mannheim, Chair of Experimental Surgery, Theodor-Kutzer-Ufer 1–3, 68167 Mannheim, Germany

  2. 3

    Medical University Vienna, Department of Medical Genetics, Währinger Strasse 10, 1090 Wien, Austria

  3. 4

    Ulm University Children's Hospital, Eythstrasse 24, 89075 Ulm, Germany

Author Information

  1. Universitätsklinikum Schleswig-Holstein, Institut für Humangenetik Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany

Publication History

  1. Published Online: 21 AUG 2009
  2. Published Print: 17 DEC 2008

ISBN Information

Print ISBN: 9783527320288

Online ISBN: 9783527627523



  • Beckwith–Wiedemann syndrome;
  • haploinsufficiency;
  • hemihyperplasia;
  • tumorigenesis;
  • Wilms tumor


In 1957, a three times higher incidence of leukemia in children with Down's syndrome was described [1]. The association of Wilms tumor in children with Beckwith–Wiedemann syndrome is now well established. Ataxia-teleangiectasia, Fanconi syndrome, Nijmegen breakage syndrome, and Bloom syndrome are further examples resulting from mutations in genes contributing to genome stability with a predisposition to develop cancer. During recent years, a growing number of dysmorphic syndromes are known to be associated with tumorigenesis (Proteus syndrome, Noonan syndrome, Costello syndrome, Sotos syndrome, etc.).

Genetic, as well as environmental factors, play a role in the development of cancer. Common pathways are suspected to be involved in tumorigenesis and the etiology of congenital anomalies. In several studies it has been shown that patients with congenital anomalies have an increased risk of malignancies, in comparison to control children. The first study establishing the incidence and spectrum of clinical genetic syndromes concurring with malignancies in children was published by Merks et al. [2]. They found 7.5% of patients with cancer had a suspected genetic syndrome. This number is considerably higher than the prevalence of syndromes in the general population. It is of note that a high number of syndromes associated with tumors were first detected in this study. This means that clinically well defined syndromes in children with cancer are often overlooked by standard pediatric care. Therefore, it is recommended that every child with cancer should be examined by a clinical geneticist or pediatrician trained in dysmorphology.