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Sökning: id:"swepub:oai:DiVA.org:uu-208673" > Somatic Mutations i...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003788naa a2200373 4500
001oai:DiVA.org:uu-208673
003SwePub
008131007s2013 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:127347485
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2086732 URI
0247 a https://doi.org/10.1210/jc.2012-42572 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1273474852 URI
040 a (SwePub)uud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Crona, Joakimu Uppsala universitet,Experimentell kirurgi4 aut0 (Swepub:uu)joacr310
2451 0a Somatic Mutations in H-RAS in Sporadic Pheochromocytoma and Paraganglioma Identified by Exome Sequencing
264 1b The Endocrine Society,c 2013
338 a print2 rdacarrier
520 a Context: Up to 60% of pheochromocytoma (PCC) and paraganglioma (PGL) are associated with either somatic or germline mutations in established PCC and PGL susceptibility loci. Most unexplained cases are characterized by an increased activity of the RAS/RAF/ERK signaling pathway. Mutations in RAS subtypes H, K, and N are common in human cancers; however, previous studies have been inconsistent regarding the mutational status of RAS in PCC and PGL. Objectives: The aim of this study was to identify novel disease causing genes in PCC and PGL tumors. Design, setting, and participants: Four benign and sporadic PCC and PGL tumors were subjected to whole exome sequencing using the Illumina HiSeq Platform. Sequences were processed by CLC genomics 4.9 bioinformatics software and the acquired list of genetic variants was filtered against the Catalogue of Somatic Mutations in Cancer database. Findings were validated in an additional 78 PCC and PGL tumor lesions. Results: Exome sequencing identified 2 cases with somatic mutations in the H-RAS. In total, 6.9% (n = 4/58) of tumors negative for mutations in major PCC and PGL loci had mutations in H-RAS: G13R, Q61K, and Q61R. There were 3 PCC and 1 PGL; all had sporadic presentation with benign tumor characteristics and substantial increases in norepinephrine and/or epinephrine. H-RAS tumors were exclusively found in male patients (P = .007). Conclusions: We identified recurrent somatic H-RAS mutations in pheochromocytoma and paraganglioma. Tumors with H-RAS mutations had activation of the RAS/RAF/ERK signaling pathway and were associated with male PCC patients having benign and sporadic disease characteristics. H-RAS could serve as a prognostic and predictive marker as well as a novel therapeutic target.
7001 a Verdugo, Alberto Delgadou Uppsala universitet,Experimentell kirurgi4 aut0 (Swepub:uu)aldel839
7001 a Maharjan, Rajaniu Uppsala universitet,Experimentell kirurgi4 aut0 (Swepub:uu)mahra921
7001 a Stalberg, Peteru Uppsala universitet,Endokrinkirurgi4 aut0 (Swepub:uu)petestah
7001 a Granberg, Danu Karolinska Institutet,Uppsala universitet,Onkologisk endokrinologi4 aut0 (Swepub:uu)dangb
7001 a Hellman, Peru Uppsala universitet,Endokrinkirurgi4 aut0 (Swepub:uu)perhellm
7001 a Björklund, Peymanu Uppsala universitet,Endokrinkirurgi4 aut0 (Swepub:uu)pebjo957
7102 a Uppsala universitetb Experimentell kirurgi4 org
7730 t Journal of Clinical Endocrinology and Metabolismd : The Endocrine Societyg 98:7, s. E1266-E1271q 98:7<E1266-E1271x 0021-972Xx 1945-7197
8564 u https://academic.oup.com/jcem/article-pdf/98/7/E1266/9045574/jcem1266.pdf
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208673
8564 8u https://doi.org/10.1210/jc.2012-4257
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:127347485

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