Universität zu Köln

Coco, Simona ORCID: 0000-0002-5296-4325, De Mariano, Marilena, Valdora, Francesca, Servidei, Tiziana ORCID: 0000-0003-0529-7686, Ridola, Vita, Andolfo, Immacolata ORCID: 0000-0003-0493-812X, Oberthuer, Andre, Tonini, Gian Paolo and Longo, Luca ORCID: 0000-0002-5153-4243 (2012). Identification of ALK germline mutation (3605delG) in pediatric anaplastic medulloblastoma. J. Hum. Genet., 57 (10). S. 682 - 685. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1435-232X

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Abstract

The anaplastic lymphoma kinase (ALK) gene has been found either rearranged or mutated in several neoplasms such as anaplastic large-cell lymphoma, non-small-cell lung cancer, neuroblastoma and anaplastic thyroid cancer. Medulloblastoma (MB) is an embryonic pediatric cancer arising from nervous system, a tissue in which ALK is expressed during embryonic development. We performed an ALK mutation screening in 52 MBs and we found a novel heterozygous germline deletion of a single base in exon 23 (3605delG) in a case with marked anaplasia. This G deletion results in a frameshift mutation producing a premature stop codon in exon 25 of ALK tyrosine kinase domain. We also screened three human MB cell lines without finding any mutation of ALK gene. Quantitative expression analysis of 16 out of 52 samples showed overexpression of ALK mRNA in three MBs. In the present study, we report the first mutation of ALK found in MB. Moreover, a deletion of ALK gene producing a stop codon has not been detected in human tumors up to now. Further investigations are now required to elucidate whether the truncated form of ALK may have a role in signal transduction. Journal of Human Genetics (2012) 57, 682-684; doi:10.1038/jhg.2012.87; published online 19 July 2012

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Coco, Simona UNSPECIFIED orcid.org/0000-0002-5296-4325 UNSPECIFIED De Mariano, Marilena UNSPECIFIED UNSPECIFIED UNSPECIFIED Valdora, Francesca UNSPECIFIED UNSPECIFIED UNSPECIFIED Servidei, Tiziana UNSPECIFIED orcid.org/0000-0003-0529-7686 UNSPECIFIED Ridola, Vita UNSPECIFIED UNSPECIFIED UNSPECIFIED Andolfo, Immacolata UNSPECIFIED orcid.org/0000-0003-0493-812X UNSPECIFIED Oberthuer, Andre UNSPECIFIED UNSPECIFIED UNSPECIFIED Tonini, Gian Paolo UNSPECIFIED UNSPECIFIED UNSPECIFIED Longo, Luca UNSPECIFIED orcid.org/0000-0002-5153-4243 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-481426
DOI:	10.1038/jhg.2012.87
Journal or Publication Title:	J. Hum. Genet.
Volume:	57
Number:	10
Page Range:	S. 682 - 685
Date:	2012
Publisher:	NATURE PUBLISHING GROUP
Place of Publication:	NEW YORK
ISSN:	1435-232X
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language LYMPHOMA KINASE; GENE; FUSION; TWINS Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/48142