ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-03

AUTHORS

Franck Bourdeaut, Sandrine Ferrand, Laurence Brugières, Marjorie Hilbert, Agnès Ribeiro, Ludovic Lacroix, Jean Bénard, Valérie Combaret, Jean Michon, Dominique Valteau-Couanet, Bertrand Isidor, Xavier Rialland, Maryline Poirée, Anne-Sophie Defachelles, Michel Peuchmaur, Gudrun Schleiermacher, Gaëlle Pierron, Marion Gauthier-Villars, Isabelle Janoueix-Lerosey, Olivier Delattre

ABSTRACT

Neuroblastic tumours may occur in a predisposition context. Two main genes are involved: PHOX2B, observed in familial cases and frequently associated with other neurocristopathies (Ondine's and Hirschsprung's disease); and ALK, mostly in familial tumours. We have assessed the frequency of mutations of these two genes in patients with a presumable higher risk of predisposition. We sequenced both genes in 26 perinatal cases (prebirth and <1 month of age, among which 10 were multifocal), 16 multifocal postnatal (>1 month) cases, 3 pairs of affected relatives and 8 patients with multiple malignancies. The whole coding sequences of the two genes were analysed in tumour and/or constitutional DNAs. We found three ALK germline mutations, all in a context of multifocal tumours. Two mutations (T1151R and R1192P) were inherited and shared by several unaffected patients, thus illustrating an incomplete penetrance. Younger age at tumour onset did not seem to offer a relevant selection criterion for ALK analyses. Conversely, multifocal tumours might be the most to benefit from the genetic screening. Finally, no PHOX2B germline mutation was found in this series. In conclusion, ALK deleterious mutations are rare events in patients with a high probability of predisposition. Other predisposing genes remain to be discovered. More... »

PAGES

ejhg2011195

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2011.195

DOI

http://dx.doi.org/10.1038/ejhg.2011.195

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022362882

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22071890


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