Genetics and biology of adult human male germ cell tumors

Cancer Research

Volumn 60, Issue 6, 2000, Pages 1475-1482

  Chaganti, R S K ^a   Houldsworth, Jane ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CISPLATIN;

CANCER CHEMOTHERAPY; CARCINOGENESIS; EMBRYO DEVELOPMENT; GENOME IMPRINTING; GERM CELL TUMOR; HUMAN; PRIORITY JOURNAL; REVIEW;

ADULT; ANTINEOPLASTIC AGENTS; CISPLATIN; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GERMINOMA; HUMANS; MALE; TESTICULAR NEOPLASMS; TESTIS;

EID: 0034653701     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (92)

1. Schottenfeld, D., and Warshuer, M. E. Testis. In: D. Schottenfeld and J. F. Fraumeni (eds.), Cancer Epidemiology and Prevention, pp. 947-957. London: W. B. Saunders Co., 1982.
2. Bergstrom, R., Adami, H. O., Mohner, M., Zatonski, W., Storm, H., Ekbom, A., Tretli, S., Teppo, L., Akre, O., and Hakulinen, T. Increase in testicular cancer in six European countries: a birth cohort phenomenon. J. Natl. Cancer Inst., 88: 727-733, 1996.
3. Zheng, T., Holford, T. R., Ma, Z., Ward, B. A., Flannery, J., and Boyle, P. Continuing increase in incidence in germ-cell testis cancer in young adults: experience from Connecticut, USA, 1935-1992. Int. J. Cancer, 65: 723-729, 1996.
4. United Kingdom Testicular Cancer Study Group. Aetiology of testicular cancer: association with congenital abnormalities, age of puberty, infertility, and exercise. Br. Med. J., 308: 1393-1399, 1994.
5. Forman, D., Oliver, D. T., Brett, A. R., Marsh, S. G., Moses, J. H., Bodmer, J. G., Chilvers, C. E., and Pike, M. C. Familial testicular cancer: a report of the UK family register, estimation of risk and an HLA class 1 sib-pair analysis. Br. J. Cancer, 65: 255-262, 1992.
6. Heimdal, K., Lothe, L. A., Lystad, S., Holm, R., Fossa, S. D., and Borresen, A. L. No germline TP53 mutations detected in familial and bilateral testicular cancer. Genes Chromosomes Cancer, 6: 92-97, 1993.
7. International Testicular Cancer Linkage Consortium. Candidate regions for testicular cancer susceptibility genes. Acta Pathol. Microbiol. Immunol. Scand., 106: 64-72, 1998.
8. Heimdal, K., Olsson, H., Tretli, S., Fossa, S. D., Borresen, A. L., and Bishop, D. T. A segregation analysis of testicular cancer based on Norwegian and Swedish families. Br. J. Cancer, 75: 1084-1087, 1997.
9. Ulbright, T. M. Germ cell neoplasms of the testis. Am. J. Surg. Pathol., 17: 1075-1091, 1993.
10. Bosl, G. J., and Motzer, R. J. Testicular germ-cell cancer. N. Engl. J. Med., 337: 242-253, 1997.
11. Motzer, R. J., Amsterdam, A., Prieto, V., Murty, V. V. V. S., Mazumdar, M., Sheinfeld, J., Bosl, G. J., Bajorin, D. F., Chaganti, R. S. K., and Reuter, V. E. Teratoma with malignant transformation: diverse malignant histologies arising in men with germ cell tumors. J. Urol., 159: 133-138, 1998.
12. Stevens, L. C., and Little, C. C. Spontaneous testicular teratomas in an inbred strain of mice. Proc. Natl. Acad. Sci. USA, 40: 1080-1087, 1954.
13. Stevens, L. C. Origin of testicular teratomas from primordial germ cells in mice. J. Natl. Cancer Inst., 38: 549-552, 1967.
14. Stevens, L. C. Experimental production of testicular teratomas in mice of strain 129, A/He, and their Fl hybrids. J. Natl. Cancer Inst., 44: 923-929, 1970.
15. Matin, A., Collin, G. B., Varnum, D. S., and Nadeau, J. H. Testicular teratocarcinogenesis in mice-a review. Acta Pathol. Microbiol. Immunol. Scand., 106: 174-182, 1998.
16. Asada, Y., Varnum, D. S., Frankel, W. N., and Nadeau, J. H. A mutation in the Ter gene causing increased susceptibility to testicular teratomas maps to mouse chromosome 18. Nat. Genet., 6: 363-368, 1994.
17. Donehower, L. A. The p53-deficient mouse: a model for basic and applied cancer studies. Semin. Cancer Biol., 7: 269-278, 1996.
18. Lutzker, S. G., and Levine, A. J. A functionally inactive p53 protein in teratocarcinoma cells is activated by either DNA damage or cellular differentiation. Nat. Med., 2: 804-810, 1996.
19. Setchell, B. P. The Mammalian Testis. Ithaca, NY: Cornell University, 1978.
20. Gilbert, S. F. Development Biology, Ed. 3, p. 790. Sunderland: Mass Sinauer Associates, 1991.
21. Skakkebaek, N. E., Rajpert-de Meyts, E., Jorgensen, N., Carlsen, E., Meidahl Petersen, P., Giwercman, A., Andersen. A-G., Kold Jensen, T., Andersson, A-M., and Müller, J. Germ cell cancer and disorders of spermatogenesis: an environmental connection? Acta Pathol. Microbiol. Immunol. Scand., 106: 3-12, 1998.
22. Matsui, Y. Regulation of germ cell death in mammalian gonads. Acta Pathol. Microbiol. Immunol. Scand., 106: 142-148, 1998.
23. Conlon, I., and Raff, M. Size control in animal development. Cell, 96: 235-244, 1999.
24. Packer, A. I., Besmer, P., and Bachvarova, R. F. Kit ligand mediates survival of type A spermatogonia and dividing spermatocytes in postnatal mouse testes. Mol. Reprod. Dev., 42: 303-310, 1995.
25. Gavrieli, Y., Sherman, Y., and Ben-Sasson, S. A. Identification of programmed cell death in situ via specific labeling of nuclear DNA fragmentation. J. Cell Biol., 119: 493-501, 1992.
26. Chaganti, R. S. K., Murty, V. V. V. S., and Bosl, G. J. Molecular genetics of male germ cell tumors. In: N. J. Vogelzang, W. U. Shipley, P. T. Scardino, and D. S. Coffey (eds.), Comprehensive Textbook of Genitourinary Oncology, pp. 932-940. Baltimore, MD: Williams and Wilkins, 1996.
27. Chaganti, R. S. K., Rodriguez, E., and Bosl, G. J. Cytogenetics of male germ-cell tumors. Urol. Clin. North Am., 20: 55-66, 1993.
28. Vos, A. M., Oosterhuis, J. W., de Jong, B., Buist, J., and Koops, H. S. Cytogenetics of carcinoma in situ of the testis. Cancer Genet. Cytogenet., 46: 75-81, 1990.
29. Suijkerbuijk, R. F., Sinke, R. J., Weghuis, D. E., Roque, L., Forus, A., Stellink, F., Siepman, A., van de Kaa, C., Soares, J., and Geurts van Kessel, A. Amplification of chromosome subregion 12p11.2-p12.1 in a metastasis of an i(12p)-negative seminoma: relationship to tumor progression? Cancer Genet. Cytogenet., 78: 145-152, 1994.
30. Mostert, M. C., Verkerk, A. J., van de Pol, M., Heighway, J., Marynen, P., Rosenberg, C., van Kessel, A. G., van Echten, J., de Jong, B., Oosterhuis, J. W., and Looijenga, L. H. Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults. Oncogene, 16: 2617-2627, 1998.
31. Rao, P. H., Houldsworth, J., Palanisamy, N., Murty, V. V. V. S., Reuter, V. E., Motzer, R. J., Bosl, G. J., and Chaganti, R. S. K. Chromosomal amplification is associated with cisplatin resistance of human male germ cell tumors. Cancer Res., 58: 4260-4263, 1998.
32. Houldsworth, J., Reuter, V., Bosl, G. J., and Chaganti, R. S. K. Aberrant expression of cyclin D2 is an early event in human male germ cell tumorigenesis. Cell Growth Differ., 8: 293-299, 1997.
33. Weinberg, R. A. The retinoblastoma protein and cell cycle control. Cell, 81: 323-330, 1995.
34. Nakayama, H., Nishiyama, H., Higuchi, T., Kaneko, Y., Fukumoto, M., and Fujita, J. Change in cyclin D2 mRNA expression during murine testis development detected by fragmented cDNA subtraction method. Dev. Growth Differ., 38: 141-151, 1996.
35. Skakkebaek, N. E., Berthelsen, J. G., Giwercman, A., and Müller, J. Carcinoma in situ of the testis: possible origin from gonocytes and precursors of all types of germ cell tumors except spermatocytoma. Int. J. Androl., 10: 19-28, 1987.
36. Loveland, K. L., and Schlatt, S. Stem cell factor and c-kit in the mammalian testis: lessons originating from Mother Nature's gene knockouts. J. Endocrinol., 153: 337-344, 1997.
37. Chaganti, R. S. K., and Houldsworth, J. The cytogenetic theory of the pathogenesis of human adult male germ cell tumors. Acta Pathol. Microbiol. Immunol. Scand., 706: 80-84, 1998.
38. Schwartz, D., Goldfinger, N., Kam, Z., and Rotter, V. p53 controls low DNA damage-dependent premeiotic checkpoint and facilitates DNA repair during spermatogenesis. Cell Growth Differ., 10: 665-675, 1999.
39. Sicinski, P., Donaher, J. L., Geneg, Y., Parker, S. B., Gardner, H., Park, M. Y., Robker, R. L., Richards, J. S., McGinnis, L. K., Biggers, J. D., Eppig, J. J., Bronson, R. T., Elledge, S. J., and Weinberg, R. A. Cyclin D2 is an FSH-responsive gene involved in gonadal cell proliferation and oncogenesis. Nature (Lond.), 384: 470-474, 1996.
40. Murty, V. V. V. S., and Chaganti, R. S. K. A genetic perspective of male germ cell tumors. Semin. Oncol., 25: 133-144, 1998.
41. Prym, P. Spontanheilung lines bosartigen, wahrscheinlich chorionepitheliomatosen gewachs in haden. Virchows Arch., 265: 239-245, 1927.
42. Cohnheim, J. Vorlesuingen veber allgemeine. Pathologie, 2 vols. Berlin: 1887-80.
43. Beard, J. The morphological continuity of the germ cells. Raja batis. Anat. Anz., 18: 465-485, 1890.
44. Witschi, E. Migration of the germ cells of human embryos from the yolk sac to the primitive gonadal folds. Contr. Embryol. Carnegie Inst., 32: 67-80, 1948.
45. Chiquoine, A. D. The identification, origin, and migration of the primordial germ cells in the mouse embryo. Anat. Rec., 118: 135-146, 1954.
46. Pesce, M., Farrace, M. G., Piacentini, M., Dolci, S., and De Felici, M. Stem cell factor and leukemia inhibitory factor promote primordial germ cell survival by suppressing programmed cell death (apoptosis). Development (Camb.), 118: 1089-1094, 1993.
47. Wylie, C. Germ cells. Cell, 96: 165-174, 1999.
48. Chaganti, R. S. K., Rodriguez, E., and Mathew, S. Origin of adult male mediastinal germ-cell tumours. Lancet, 343: 1130-1132, 1994.
49. Matsui, Y., Zsebo, K., and Hogan, B. L. Derivation of pluripotential embryonic stem cells from murine primordial germ cells in culture. Cell, 70: 841-847, 1992.
50. Donovan, P. J., Miguel, M. D., Chang, L., and Resnick, J. L. Primordial germ cells, stem cells, and testicular cancer. Acta Pathol. Microbiol. Immunol. Scand., 106: 134-141, 1998.
51. Yoshida, K., Taga, T., Saito, M., Suematsu, S., Kumanogoh, A., Tanaka, T., Fujiwara, H., Hirata, M., Yamagami, T., Nakahata, T., Hirabayashi, T., Yoneda, Y., Tanaka, K., Wang, W. Z., Mori, C., Shiota, K., Yoshida, N., and Kishimoto, T. Targeted disruption of gp130, a common signal transducer for the interleukin 6 family of cytokines, leads to myocardial and hematological disorders. Proc. Natl. Acad. Sci. USA, 93: 407-411, 1996.
52. Nichols, J., Zevnik, B., Anastassiadis, K., Niwa, H., Klewe-Nebenius, D., Chambers, I., Scholer, H., and Smith, A. Formation of pluripotent stem cells in the mammalian embryo depends on the POU transcription factor Oct4. Cell, 95: 379-391, 1998.
53. Shamblott, M. J., Axelman, J., Wang, S., Bugg, E. M., Littlefield, J. W., Donovan, P. J., Blumenthal, P. D., Muggins, G. R., and Gearhart, J. D. Derivation of pluripotent stem cells from cultured human primordial germ cells. Proc. Natl. Acad. Sci. USA, 95: 13726-13731, 1998.
54. Rajpert-de Meyts, E., and Skakkebaek, N. E. Expression of the c-kit protein product in carcinoma in situ and invasive testicular germ cell tumours. Int. J. Androl., 17: 85-92, 1994.
55. Edlund, T., and Jessell, T. M. Progression from extrinsic to intrinsic signaling in cell fate specification: a view from the nervous system. Cell, 96: 211-224, 1999.
56. Murty, V. V. V. S., Bosl, G., Houldsworth, J., Reuter, V., and Chaganti, R. S. K. Allelic loss and somatic differentiation in human male germ cell tumors. Oncogene, 9: 2245-2251, 1994.
57. Postel, E. H., Berberich, S. J., Flint, S. J., and Ferrone, C. A. Human c-myc transcription factor PuF identified as nm23 H2 nucleoside diphosphate kinase, a candidate suppressor of tumor metastasis. Science (Washington DC), 261: 478-480, 1993.
58. Backer, J. M., Murty, V. V. V. S., Potla, L., Mendola, C. E., Rodriguez, E., Reuter, V., Bosl, G. J., and Chaganti, R. S. K. Loss of heterozygosity and decreased expression of NME genes correlate with teratomatous differentiation in human male germ cell tumors. Biochem. Biophys. Res. Commun., 202: 1096-1103, 1994.
59. Andrews, P. W. Teratocarcinomas and human embryology: pluirpotent human EC cell lines. A review. Acta Pathol. Microbiol. Immunol. Scand., 106: 158-168, 1998.
60. Andrews, P. W., Nudelman, E., Hakomori, S-I., and Fenderson, B. A. Different patterns of glycolipid antigens are expressed following differentiation of TERA-2 human embryonal carcinoma cells induced by retinoic acid, hexamethylene bisacetamide (HMBA) or bromodeoxyuridine (BudR). Differentiation, 43: 131-138, 1990.
61. Roach, S., Schmid, W., and Pera, M. F. Hepatocyte transcription factor expression in human embryonal carcinoma and yolk sac carcinoma cell lines: expression of HNF-3α in models of early endodermal cell differentiation. Exp. Cell Res., 215: 189-198, 1994.
62. Damjanov, I., Horvat, B., and Gibas, Z. Retinoic acid-induced differentiation of the developmentally pluripotent human germ cell tumor-derived cell line. NCCIT. Lab. Investig., 68: 220-232, 1993.
63. Suzuki, N., Yamada, T., Matsuoka, K., Hiraoka, N., Iwamaru, Y., and Hata, J. Functional expressions of fms and M-CSF during trophoectodermal differentiation of human embryonal carcinoma cells. Placenta, 20: 203-211, 1999.
64. Andrews, P. W. Human teratocarcinomas. Biochim. Biophys. Acta, 948: 17-36, 1988.
65. Moasser, M. M., Reuter, V. E., and Dmitrovsky, E. Overexpression of the retinoic acid receptor γ directly induces terminal differentiation of human embryonal carcinoma cells. Oncogene, 10: 1537-1543, 1995.
66. Spinella, M. J., Kitareewan, S., Mellado, B., Sekula, D., Khoo, K. S., and Dmitrovsky, E. Specific retinoid receptors cooperate to signal growth suppression and maturation of human embryonal carcinoma cells. Oncogene, 16: 3471-3480, 1998.
67. Hong, C. S., Caromile, L., Nomata, Y., Mori, H., Bredesen, D. E., and Koo, E. H. Contrasting role of presenilin-1 and presenilin-2 in neuronal differentiation in vitro. J. Neurosci., 19: 637-643, 1999.
68. Surani, M. A. Reprogramming a somatic nucleus by trans-modification activity in germ cells. Semin. Cell Dev. Biol., 10: 273-277, 1999.
69. Barlow, D. P. Gametic imprinting in mammals. Science (Washington DC), 270: 1610-1613, 1995.
70. Van Gurp, R. J. H. L. M., Oosterhuis, J. W., Kalscheuer, V., Marimas, E. C. M., and Looijenga, L. H. J. Biallelic expression of the H19 and IGF2 genes in human testicular germ cell tumors. J. Natl. Cancer Inst., 86: 1070-1075, 1994.
71. Looijenga, L. H. J., Verkerk, A. J. M. H., Dekker, M. C., van Gurp, R. J. H. L. M., Gillis, A. J. M., and Oosterhuis, J. W. Genomic imprinting in testicular germ cell tumours. Acta Pathol. Microbiol. Immunol. Scand., 106: 187-197, 1998.
72. Chaganti, R. S. K., Ladanyi, M., Samaniego, F., Offit, K., Reuter, V., Jhanwar, S. C., and Bosl, G. J. Leukemic differentiation of a mediastinal germ cell tumor. Genes Chromosomes Cancer, 1: 83-87, 1989.
73. Ladanyi, M., Samaniego, F., Reuter, V. E., Jhanwar, S. C., Bosl, G. J., and Chaganti, R. S. K. Cytogenetic and immunohistochemical evidence for the germ cell origin of acute leukemias associated with mediastinal germ cell tumors. J. Natl. Cancer. Inst., 82: 221-227, 1990.
74. Chaganti, R. S. K., and Klein, E. A. Cytogenetic basis for molecular analysis of leukemia, lymphoma, and solid tumors. In: J. Cosman (ed.). Molecular Genetics in Clinical Diagnosis, pp. 73-104. New York: Elsevier Publishing, 1991.
75. Cordon-Cardo, C., Lateres, E., Drobnjak, M., Oliva, M. R., Pollack, D., Woodruff, J. M., Marechal, V., Chen, L., Brennam M. F., and Levine, A. J. Molecular abnormalities of mdm2 and p53 genes in adult soft tissue sarcomas. Cancer Res., 54: 794-799, 1994.
76. Houldsworth, J., Xiao, H., Murty V. V. V. S., Chen, W., Ray, B., Reuter, V. E., Bosl, G. J., and Chaganti, R. S. K. Human male germ cell tumor resistance to cisplatin is linked to TP53 gene mutation. Oncogene, 16: 2345-2349, 1998.
77. Peng, H-Q., Hogg, D., Malkin, D., Bailey, D., Gallie, B., Bulbul, M., Jewett, M., Buchanan, J., and Goss, P. E. Mutations of the p53 gene do not occur in testis cancer. Cancer Res., 53: 3574-3578, 1993.
78. Bartkova, J., Bartek, J., Lukas, J., Voijesek, B., Staskova, Z., Rejthar, A., Kovarik, J., Midgley, C. A., and Lane, D. P. p53 protein alterations in human testicular cancer including pre-invasive intratubular germ-cell neoplasia. Int. J. Cancer, 49: 196-202, 1991.
79. Schenkman, N. S., Sesterhenn, I. A., Washington, L., Tong, Y. A., Weghorst, C. M., Buzard, G. S., Srivastava, S., and Moul, J. W. Increased p53 protein does not correlate to p53 gene mutations in microdissected testicular germ cell tumors. J. Urol., 154: 617-621, 1995.
80. Heidenreich, A., Schenkman, N. S., Sesterhenn, I. A., Mostofi, K. F., Moul, J. W., Srivastava, S., and Engelmann, U. H. Immunohistochemical and mutational analysis of the p53 tumour suppressor gene and the bcl-2 oncogene in primary testicular germ cell tumours. Acta Pathol. Microbiol. Immunol. Scand., 106: 90-100, 1998.
81. Schwab, M., and Amler, L. C. Amplification of cellular oncogenes: a predictor of clinical outcome in human cancer. Genes Chromosomes Cancer, 1: 181-193, 1990.
82. Koberle, B., Grimaldi, K. A., Sunters, A., Hartley, J. A., Kelland, L. R., and Masters, J. R. W. DNA repair capacity and cisplatin sensitivity of human testis tumour cells. Int. J. Cancer, 70: 551-555, 1997.
83. De Laat, W. L., Jaspers, N. G. J., and Hoeijmakers, J. H. J. Molecular mechanism of nucleotide excision repair. Genes Dev., 13: 768-785, 1999.
84. Trimmer, E. E., Zamble, D. J., Lippard, S. J., and Essigmann, J. M. Human testis-determining factor SRY binds to the major DNA adduct of cisplatin and a putative target sequence with comparable affinities. Biochemistry, 37: 352-362, 1998.
85. Koberle, B., Masters, J. R. W., Hartley, J. A., and Wood, R. D. Defective repair of cisplatin-induced DNA damage caused by reduced XPA protein in testicular germ cell tumors. Curr. Biol., 9: 273-276, 1999.
86. Levine, A. J. p53, the cellular gatekeeper for growth and division. Cell, 88: 323-331, 1997.
87. Haupt, Y., Rowan, S., Shaulian, E., Vousden, K., and Oren, M. Induction of apoptosis in HeLa cells by transactivation-deficient p53. Genes Dev., 9: 2170-2183, 1995.
88. Chresta, C. M., Masters, J. R. W., and Hickman, J. A. Hypersensitivity of human testicular tumors to etoposide-induced apoptosis is associated with functional p53 and a high bax:bcl-2 ratio. Cancer Res., 56: 1834-1841, 1996.
89. Timmer-Bosscha, H., de Vries, E. G., Meijer, C., Oosterhuis, J. W., and Mulder, N. H. Differential effects of all-trans-retinoic acid, docosahexaenoic acid, and hexadecylphosphocholine on cisplatin-induced cytotoxicity and apoptosis in a cisplatin sensitive and resistant human embryonal carcinoma cell line. Cancer Chemother. Pharmacol., 41: 469-476, 1998.
90. Giaccia, A. J., and Kastan, M. B. The complexity of p53 modulation: emerging patterns from divergent signals. Genes Dev., 12: 2973-2983, 1998.
91. Prives, C. Signaling to p53: breaking the MDM2-p53 circuit. Cell, 95: 5-8, 1998.
92. Arriola, E. L., Rodriguez-Lopez, A. M., Hickman, J. A., and Chresta, C. M. Bcl-2 overexpression results in reciprocal downregulation of Bcl-X(L) and sensitizes human testicular germ cell tumors to chemotherapy-induced apoptosis. Oncogene, 18: 1457-1464, 1999.