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Mutational analysis of proto-oncogene Dbl on Xq27 in testicular germ cell tumors reveals a rare SNP in a patient with bilateral undescended testis

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Abstract

Objectives

An abundance of X chromosomes in testicular germ cell tumors (TGCTs), and a candidate TGCTs susceptibility gene (TGCT1) on Xq27 highlight the potential involvement of X chromosomes in TGCT pathogenesis. However, the TGCT1 on Xq27 has so far not been identified. We hypothesized that a somatic mutation of dbl oncogene on Xq27 may play a role for the development of TGCTs.

Methods

We have screened 41 TGCT tissues for dbl mutations using single-strand conformation polymorphism (SSCP) analysis. These tissues are composed of 25 seminomatous TGCTs tissues and 16 non-seminomatous TGCTs tissues, including two cases with a rhabdomyosarcoma component.

Results

Somatic mutations were not detected in the 25 exons of dbl in these TGCTs. However, we found a rare single nucleotide polymorphism (SNP) (T to C nucleotide change) within intron 22 in one out of the 41 TGCTs cases (2%). Furthermore, the sample with the rare SNP was identified as the sole TGCTs case associated with bilateral undescended testis in our series.

Conclusions

Our results indicate that proto-oncogene dbl is not a major target for sporadic TGCTs. However, the rare SNP in dbl may affect the susceptibility to undescended testis. Determining the frequency of this SNP in patients with various types of undescended testis in different ethnic groups is a warranted study.

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Acknowledgments

This study was supported by Natural Science Foundation of Heilongjiang Province China (Grand number: LC06C34) and Post- doctor Science Foundation of China (Grand number: 20060390239).

Conflict of interest statement

There is no other actual or potential conflict of interest in relation to this article.

Author information

Authors and Affiliations

  1. Department of Urology, First and Fourth Affiliated Hospital, Harbin Medical University, 150001, Harbin, Heilongjiang, China

    Wan-Hai Xu

  2. Department of Urology, First Affiliated Hospital, Harbin Medical University, 150001, Harbin, Heilongjiang, China

    Cheng Zhang, Wei-Ming Zhao, Chun-Mei Li, You-Cheng Xiu, Shao-Bin Ni & Ming-Hua Ren

  3. CDC, Harbin Medical University, 150001, Harbin, Heilongjiang, China

    Dian-Jun Sun

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  1. Wan-Hai Xu
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  2. Cheng Zhang
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Correspondence to Cheng Zhang.

Additional information

W.-H. Xu and C. Zhang have equally contributed to this work.

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Xu, WH., Zhang, C., Zhao, WM. et al. Mutational analysis of proto-oncogene Dbl on Xq27 in testicular germ cell tumors reveals a rare SNP in a patient with bilateral undescended testis. World J Urol 27, 811–815 (2009). https://doi.org/10.1007/s00345-009-0408-y

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  • DOI: https://doi.org/10.1007/s00345-009-0408-y

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