Lack of evidence for frequent MED12 p.L1224F mutation in prostate tumours from Caucasian patients. Issue 4 (9th July 2013)

• Record Type: Journal Article
• Authors: Stoehr, Robert; Taubert, Helge; Gaisa, Nadine T; Smeets, Daniela; Kneitz, Burkhard; Giedl, Johannes; Ruemmele, Petra; Wieland, Wolf F; Rau, Tilman T; Hartmann, Arndt
• Is Part Of: Journal of pathology. Volume 230:Issue 4(2013)
• Page Start: 453
• Page End: 456
• Publication Date: 2013-07-09
• Subjects: Pathology -- Periodicals; 616.07
• DOI: 10.1002/path.4208
• Languages: English
• ISSNs: 0022-3417

Abstract

<abstract abstract-type="main" id="path4208-abs-0001"> <title>Abstract</title> <p id="path4208-para-0001"> <bold>Recently mutations in the <italic>MED12</italic> gene have been reported in 5.4% of prostate tumours from Caucasian patients analysed by exome sequencing (Barbieri CE, Baca SC, Lawrence MS, <italic>et al</italic>. Exome sequencing identifies recurrent <italic>SPOP</italic>, <italic>FOXA1</italic> and <italic>MED12</italic> mutations in prostate cancer. <italic>Nature Genet</italic> 2012; 44: 685–689). In more than 70% of prostate tumours with <italic>MED12</italic> mutation, a recurrent p.L1224F mutation in exon 26 was found. In order to validate this <italic>MED12</italic> p.L1224F mutation, an unselected cohort of prostate tumours from Caucasian patients was analysed by Sanger sequencing. Overall, 223 prostate tumours and three lymph node metastases were analysed. The <italic>MED12</italic> p.L1224F mutation could not be detected in any of the cases. So far, the recently reported <italic>MED12</italic> p.L1224F mutation could not be validated in our unselected cohort of prostate tumours. Contrary to the findings of Barbieri <italic>et al</italic>, our data indicate either that the p.L1224F mutation in the <italic>MED12</italic> gene plays no role in prostate carcinogenesis or that this alteration is only relevant in a small subgroup of tumours. Copyright © 2013 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.</bold> </p> </abstract>