High incidence of malformation syndromes in a series of 1,073 children with cancer

Johannes Hans M Merks, Huib N Caron, Raoul C M Hennekam

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

136 Citaten (Scopus)


Constitutional molecular defects are known to play a role in oncogenesis, as shown by the increased incidence of embryonic cancers in children with Beckwith-Wiedemann syndrome (BWS) or of leukemia in children with Down syndrome. To establish the incidence and spectrum of malformation syndromes associated with childhood cancer we performed a clinical morphological examination on a series of 1,073 children with cancer. We diagnosed a syndrome in 42 patients (3.9%) and suspected the presence of a syndrome in another 35 patients (3.3%), for a total of 7.2%. This incidence of patients with a proven or suspected syndrome is high, and points to a possible association. We describe new syndrome-tumor associations in several entities: cleidocranial dysostosis (Wilms tumor), Bardet-Biedl syndrome (BBS) (acute lymphoblastic leukemia), Kabuki syndrome (neuroblastoma), LEOPARD syndrome (neuroblastoma), Poland anomaly (osteosarcoma; Hodgkin disease), and blepharophimosis epicanthus inversus syndrome (Burkitt lymphoma). Twenty of the 42 syndrome diagnoses were not recognized in the patients prior to this study, indicating that these diagnoses are commonly missed. We propose that all children with a malignancy should be examined by a clinical geneticist or a pediatrician skilled in clinical morphology to determine if the patients have a malformation syndrome.

Originele taal-2Engels
Pagina's (van-tot)132-43
Aantal pagina's12
TijdschriftAmerican journal of medical genetics. Part A
Nummer van het tijdschrift2
StatusGepubliceerd - feb. 2005
Extern gepubliceerdJa


Duik in de onderzoeksthema's van 'High incidence of malformation syndromes in a series of 1,073 children with cancer'. Samen vormen ze een unieke vingerafdruk.

Citeer dit