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Open Access Short Report

DICER1 RNase IIIb domain mutations are infrequent in testicular germ cell tumours

Carmela M de Boer1, Ronak Eini2, Ad M Gillis2, Hans Stoop2, Leendert HJ Looijenga2 and Stefan J White1*

Author Affiliations

1 Center for Reproduction and Development, Monash Institute of Medical Research, Monash University, Clayton, Australia

2 Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands

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BMC Research Notes 2012, 5:569  doi:10.1186/1756-0500-5-569

Published: 15 October 2012

Abstract

Background

Testicular Germ Cell Tumours (TGCT) are the most frequently occurring malignancy in males from 15–45 years of age. They are derived from germ cells unable to undergo physiological maturation, although the genetic basis for this is poorly understood. A recent report showed that mutations in the RNase IIIb domain of DICER1, a micro-RNA (miRNA) processing enzyme, are common in non-epithelial ovarian cancers. DICER1 mutations were found in 60% of Sertoli-Leydig cell tumours, clustering in four codons encoding metal-binding sites. Additional analysis of 14 TGCT DNA samples identified one case that also contained a mutation at one of these sites.

Findings

A number of previous studies have shown that DICER1 mutations are found in <1% of most cancers. To provide a more accurate estimate of the frequency of such mutations in TGCTs, we have analysed 96 TGCT samples using high resolution melting curve analysis for sequence variants in these four codons. Although we did not detect any mutations in any of these sites, we did identify a novel mutation (c.1725 R>Q) within the RNase IIIb domain in one TGCT sample, which was predicted to disturb DICER1 function.

Conclusion

Overall our findings suggest a mutation frequency in TGCTs of ~1%. We conclude therefore that hot-spot mutations, frequently seen in Sertoli-Leydig cell tumours, are not common in TGCTs.

Keywords:
miRNA; DICER1; Cancer; Testicular germ cell tumours; Mutation detection