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

BMC Research Notes

Stefan J White²  Leendert HJ Looijenga¹  Hans Stoop¹  Ad M Gillis¹  Ronak Eini¹  Carmela M de Boer² 

[1] Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Josephine Nefkens Institute, Rotterdam, The Netherlands;Center for Reproduction and Development, Monash Institute of Medical Research, Monash University, Clayton, Australia

关键词: Mutation detection;    Testicular germ cell tumours;    Cancer;    DICER1;    miRNA;   

Others  :  1165457
DOI  :  10.1186/1756-0500-5-569

 received in 2012-07-11, accepted in 2012-10-08,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 de Boer et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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