Testicular Germ Cell Tumours: Predisposition Genes and the Male Germ Cell Niche

Overview

Journal Nat Rev Cancer

Specialty Oncology

Date 2011 Mar 18

PMID 21412254

Citations 42

Authors

Duncan Gilbert

Elizabeth Rapley

Janet Shipley

Affiliations

Soon will be listed here.

Abstract

Testicular germ cell tumours (TGCTs) of adults and adolescents are putatively derived from primordial germ cells or gonocytes. Recently reported genome-wide association studies implicate six gene loci that predispose to TGCT development. Remarkably, the functions of proteins encoded by genes within these regions bridge our understanding between the pathways involved in primordial germ cell physiology, male germ cell development and the molecular pathology of TGCTs. Furthermore, this improved understanding of the mechanisms underlying TGCT development and dissemination has clinical relevance for the management of patients with these tumours.

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References

Fletcher O, Houlston R . Architecture of inherited susceptibility to common cancer. Nat Rev Cancer. 2010; 10(5):353-61. DOI: 10.1038/nrc2840. View

Molyneaux K, Zinszner H, Kunwar P, Schaible K, Stebler J, Sunshine M . The chemokine SDF1/CXCL12 and its receptor CXCR4 regulate mouse germ cell migration and survival. Development. 2003; 130(18):4279-86. DOI: 10.1242/dev.00640. View

Brooks B, Fischbeck K . Spinal and bulbar muscular atrophy: a trinucleotide-repeat expansion neurodegenerative disease. Trends Neurosci. 1995; 18(10):459-61. DOI: 10.1016/0166-2236(95)94497-s. View

Mueller T, Mueller L, Luetzkendorf J, Voigt W, Simon H, Schmoll H . Loss of Oct-3/4 expression in embryonal carcinoma cells is associated with induction of cisplatin resistance. Tumour Biol. 2006; 27(2):71-83. DOI: 10.1159/000092324. View

De Felici M, Scaldaferri M, Lobascio M, Iona S, Nazzicone V, Klinger F . Experimental approaches to the study of primordial germ cell lineage and proliferation. Hum Reprod Update. 2004; 10(3):197-206. DOI: 10.1093/humupd/dmh020. View

Mosselman S, Looijenga L, Gillis A, van Rooijen M, Kraft H, van Zoelen E . Aberrant platelet-derived growth factor alpha-receptor transcript as a diagnostic marker for early human germ cell tumors of the adult testis. Proc Natl Acad Sci U S A. 1996; 93(7):2884-8. PMC: 39728. DOI: 10.1073/pnas.93.7.2884. View

Frolov A, Chahwan S, Ochs M, Arnoletti J, Pan Z, Favorova O . Response markers and the molecular mechanisms of action of Gleevec in gastrointestinal stromal tumors. Mol Cancer Ther. 2003; 2(8):699-709. View

Maldonado-Saldivia J, van den Bergen J, Krouskos M, Gilchrist M, Lee C, Li R . Dppa2 and Dppa4 are closely linked SAP motif genes restricted to pluripotent cells and the germ line. Stem Cells. 2006; 25(1):19-28. DOI: 10.1634/stemcells.2006-0269. View

Akre O, Richiardi L . Does a testicular dysgenesis syndrome exist?. Hum Reprod. 2009; 24(9):2053-60. DOI: 10.1093/humrep/dep174. View

10.

Runyan C, Schaible K, Molyneaux K, Wang Z, Levin L, Wylie C . Steel factor controls midline cell death of primordial germ cells and is essential for their normal proliferation and migration. Development. 2006; 133(24):4861-9. DOI: 10.1242/dev.02688. View

11.

Elert A, Jahn K, Heidenreich A, Hofmann R . Population-based investigation of familial undescended testis and its association with other urogenital anomalies. J Pediatr Urol. 2008; 1(6):403-7. DOI: 10.1016/j.jpurol.2005.04.005. View

12.

Downward J . Targeting RAS signalling pathways in cancer therapy. Nat Rev Cancer. 2003; 3(1):11-22. DOI: 10.1038/nrc969. View

13.

Payne C, Gallagher S, Foreman O, Dannenberg J, DePinho R, Braun R . Sin3a is required by sertoli cells to establish a niche for undifferentiated spermatogonia, germ cell tumors, and spermatid elongation. Stem Cells. 2010; 28(8):1424-34. PMC: 3174062. DOI: 10.1002/stem.464. View

14.

Marte B, Downward J . PKB/Akt: connecting phosphoinositide 3-kinase to cell survival and beyond. Trends Biochem Sci. 1997; 22(9):355-8. DOI: 10.1016/s0968-0004(97)01097-9. View

15.

Zafarana G, Grygalewicz B, Gillis A, Vissers L, van de Vliet W, van Gurp R . 12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH. Oncogene. 2003; 22(48):7695-701. DOI: 10.1038/sj.onc.1207011. View

16.

Zhang A, Maner S, Betz R, Angstrom T, Stendahl U, Bergman F . Genetic alterations in cervical carcinomas: frequent low-level amplifications of oncogenes are associated with human papillomavirus infection. Int J Cancer. 2002; 101(5):427-33. DOI: 10.1002/ijc.10627. View

17.

Costoya J, Hobbs R, Barna M, Cattoretti G, Manova K, Sukhwani M . Essential role of Plzf in maintenance of spermatogonial stem cells. Nat Genet. 2004; 36(6):653-9. DOI: 10.1038/ng1367. View

18.

Ferlin A, Garolla A, Bettella A, Bartoloni L, Vinanzi C, Roverato A . Androgen receptor gene CAG and GGC repeat lengths in cryptorchidism. Eur J Endocrinol. 2005; 152(3):419-25. DOI: 10.1530/eje.1.01860. View

19.

Choong C, Kemppainen J, Zhou Z, Wilson E . Reduced androgen receptor gene expression with first exon CAG repeat expansion. Mol Endocrinol. 1996; 10(12):1527-35. DOI: 10.1210/mend.10.12.8961263. View

20.

Krentz A, Murphy M, Kim S, Cook M, Capel B, Zhu R . The DM domain protein DMRT1 is a dose-sensitive regulator of fetal germ cell proliferation and pluripotency. Proc Natl Acad Sci U S A. 2009; 106(52):22323-8. PMC: 2799724. DOI: 10.1073/pnas.0905431106. View