The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors

Schrader, K. A. et al. (2009) The specificity of the FOXL2 c.402C>G somatic mutation: a survey of solid tumors. PLoS ONE, 4(11), e7988. (doi: 10.1371/journal.pone.0007988) (PMID:19956657) (PMCID:PMC2777318)

Abstract

Background: A somatic mutation in the FOXL2 gene is reported to be present in almost all (97%; 86/89) morphologically defined, adult-type, granulosa-cell tumors (A-GCTs). This FOXL2 c.402C>G mutation changes a highly conserved cysteine residue to a tryptophan (p.C134W). It was also found in a minority of other ovarian malignant stromal tumors, but not in benign ovarian stromal tumors or unrelated ovarian tumors or breast cancers. Methodology/Principal Findings: Herein we studied other cancers and cell lines for the presence of this mutation. We screened DNA from 752 tumors of epithelial and mesenchymal origin and 28 ovarian cancer cell lines and 52 other cancer cell lines of varied origin. We found the FOXL2 c.402C>G mutation in an unreported A-GCT case and the A-GCT-derived cell line KGN. All other tumors and cell lines analyzed were mutation negative. Conclusions/Significance: In addition to proving that the KGN cell line is a useful model to study A-GCTs, these data show that the c.402C>G mutation in FOXL2 is not commonly found in a wide variety of other cancers and therefore it is likely pathognomonic for A-GCTs and closely related tumors.

• Item Type: Articles
• Additional Information: This work was supported by a grant from the Canadian Institutes of Health Research MOP 97735. CIHR had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The high resolution melt assay used to screen the solid tumors was internally funded and performed at the Novartis Institutes for BioMedical Research.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Cooke, Dr Susie
• Authors: Schrader, K. A., Gorbatcheva, B., Senz, J., Heravi-Moussavi, A., Melnyk, N., Salamanca, C., Maines-Bandiera, S., Cooke, S. L., Leung, P., Brenton, J. D., Gilks, C. B., Monahan, J., and Huntsman, D. G.
• College/School: College of Medical Veterinary and Life Sciences > School of Cancer Sciences
• Journal Name: PLoS ONE
• Publisher: Public Library of Science
• ISSN: 1932-6203
• ISSN (Online): 1932-6203
• Copyright Holders: Copyright © 2009 Schrader et al.
• First Published: First published in PLoS ONE 4(11):e7988
• Publisher Policy: Reproduced under a Creative Commons License