Tumor risk in disorders of sex development (DSD)

Best Practice and Research in Clinical Endocrinology and Metabolism

Volumn 21, Issue 3, 2007, Pages 480-495

  Looijenga, Leendert H J ^d   Hersmus, Remko ^d   Oosterhuis, J Wolter ^a   Cools, Martine ^b   Drop, Stenvert L S ^c   Wolffenbuttel, Katja P ^c  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^d NONE

Author keywords

cancer risk; CIS ITGCNU; delayed maturation; diagnostic markers; germ cell development; gonadoblastoma; malignant transformation; prediction model

Indexed keywords

GENE PRODUCT; OCTAMER TRANSCRIPTION FACTOR 4; TESTIS SPECIFIC PROTEIN; TESTOSTERONE 17BETA DEHYDROGENASE; UNCLASSIFIED DRUG;

CANCER RISK; CARCINOMA IN SITU; CELL MATURATION; DIAGNOSTIC PROCEDURE; EMBRYONAL CARCINOMA; GENDER IDENTITY; GERM CELL TUMOR; GONADAL DYSGENESIS; GONADECTOMY; GONADOBLASTOMA; HERMAPHRODITISM; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MALIGNANT NEOPLASTIC DISEASE; MALIGNANT TRANSFORMATION; MEDICAL DECISION MAKING; NONHUMAN; PSYCHOSOCIAL CARE; REVIEW; SEMINOMA; SEXUAL DYSFUNCTION; TESTIS CARCINOMA; VIRILIZATION; Y CHROMOSOME;

ADULT; CARCINOMA IN SITU; CELL CYCLE PROTEINS; CELL TRANSFORMATION, NEOPLASTIC; DIAGNOSIS, DIFFERENTIAL; FEMALE; GERM CELLS; GERMINOMA; GONADAL DYSGENESIS; GONADOBLASTOMA; HUMANS; MALE; OCTAMER TRANSCRIPTION FACTOR-3; RISK FACTORS; SEX DIFFERENTIATION DISORDERS; SEXUAL MATURATION; TUMOR MARKERS, BIOLOGICAL;

EID: 34548588793     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2007.05.001     Document Type: Review

References (79)

1. Hughes I.A., Houk C., Ahmed S.F., et al. Consensus statement on management of intersex disorders. Archives of Disease in Childhood 91 (2006) 554-563
2. Oosterhuis J., and Looijenga L. Testicular germ-cell tumours in a broader perspective. Nature Reviews. Cancer 5 (2005) 210-222
3. Woodward P.J., Heidenreich A., Looijenga L.H.J., et al. Testicular germ cell tumors. In: Eble J.N., Sauter G., and Epstein J.I. (Eds). World Health Organization Classification of Tumours. Pathology and Genetics of the Urinary System and Male Genital Organs (2004), IARC Press, Sesterhann IA. Lyon 217-278
4. Walsh T.J., Grady R.W., Porter M.P., et al. Incidence of testicular germ cell cancers in U.S. children: SEER program experience 1973 to 2000. Urology 68 (2006) 402-405 discussion 405
5. Bray F., Richiardi L., Ekbom A., et al. Trends in testicular cancer incidence and mortality in 22 European countries: Continuing increases in incidence and declines in mortality. International Journal of Cancer 118 (2006) 3099-3111
6. Skakkebaek N.E. Testicular dysgenesis syndrome: new epidemiological evidence. International Journal of Andrology 27 (2004) 189-191
7. Honecker F., Stoop H., Mayer F., et al. Germ cell lineage differentiation in nonseminomatous germ cell tumors. The Journal of Pathology 208 (2006) 395-400
8. Mostert M.C., Rosenberg C., Stoop H., et al. Comparative genomic and in situ hybridization of germ cell tumors of the infantile testis. Laboratory Investigation 80 (2000) 1055-1064
9. Veltman I., Van Asseldonk M., Schepens M., et al. A novel case of infantile sacral teratoma and a constitutional t(12;15) (q13;q25) pat. Cancer Genetics and Cytogenetics 136 (2002) 17-22
10. Veltman I., Schepens M.T., Looijenga L.H.J., et al. Germ cell tumours in neonates and infants: a distinct subgroup. APMIS 111 (2003) 152-160
11. Veltman I., Veltman J., Jeanssen I., et al. Identification of recurrent chromosomal aberations in germ cell tumors of neonates and infants using genome-wide array-based comparative genomic hyrbidization. Genes, Chromosomes & Cancer 43 (2005) 367-376
12. Stallock J., Molyneaux K., Schaible K., et al. The pro-apoptotic gene Bax is required for the death of ectopic primordial germ cells during their migration in the mouse embryo. Development 130 (2003) 6589-6597
13. Lawson K.A., Dunn N.R., Roelen B.A., et al. Bmp4 is required for the generation of primordial germ cells in the mouse embryo. Genes & Development 13 (1999) 424-436
14. Anderson R., Copeland T.K., Scholer H., et al. The onset of germ cell migration in the mouse embryo. Mechanisms of Development 91 (2000) 61-68
15. Wylie C. Germ cells. Cell 96 (1999) 165-174
16. Niwa H., Miyazaki J., and Smith A.G. Quantitative expression of Oct-3/4 defines differentiation, dedifferentiation or self-renewal of ES cells. Nature Genetics 24 (2000) 372-376
17. Wilhelm D., and Koopman P. The makings of maleness: towards an integrated view of male sexual development. Nature Reviews. Genetics 7 (2006) 620-631
18. Honecker F., Stoop H., de Krijger R.R., et al. Pathobiological implications of the expression of markers of testicular carcinoma in situ by fetal germ cells. The Journal of Pathology 203 (2004) 849-857
19. Gidekel S., Pizov G., Bergman Y., et al. Oct-3/4 is a dose-dependent oncogenic fate determinant. Cancer Cell 4 (2003) 361-370
20. Brennan J., and Capel B. One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nature Reviews. Genetics 5 (2004) 509-521
21. Stoop H., Honecker F., De Krijger R., et al. Differentiation and development of human female germ cells during prenatal gonadogenesis: an immunohistochemical study. Human Reproduction (Oxford, England) 20 (2005) 1466-1476
22. Rajpert-De Meyts E., Hanstein R., Jorgensen N., et al. Developmental expression of POU5F1 (OCT-3/4) in normal and dysgenetic human gonads. Human Reproduction (Oxford, England) 19 (2004) 1338-1344
23. Surani M.A. Imprinting and the initiation of gene silencing in the germ line. Cell 93 (1998) 309-312
24. Walter J., and Paulsen M. Imprinting and disease. Seminars in Cell & Developmental Biology 14 (2003) 101-110
25. Szabo P.E., and Mann J.R. Biallelic expression of imprinted genes in the mouse germ line: Implications for erasure, establishment, and mechanisms of genomic imprinting. Genes & Development 9 (1995) 1857-1868
26. Kerjean A., Dupont J.M., Vasseur C., et al. Establishment of the paternal methylation imprint of the human H19 and MEST/PEG1 genes during spermatogenesis. Human Molecular Genetics 9 (2000) 2183-2187
27. Skakkebæk N.E. Possible carcinoma-in-situ of the testis. Lancet (1972) 516-517
28. Dieckmann K.P., Kulejewski M., Pichlmeier U., et al. Diagnosis of contralateral testicular intraepithelial neoplasia (TIN) in patients with testicular germ cell cancer: systematic two-site biopsies are more sensitive than a single random biopsy. European Urology 51 (2007) 175-185
29. Almstrup K., Ottesen A.M., Sonne S.B., et al. Genomic and gene expression signature of the pre-invasive testicular carcinoma in situ. Cell and Tissue Research 322 (2005) 159-165
30. Matin M.M., Walsh J.R., Gokhale P.J., et al. Specific knockdown of Oct4 and beta2-microglobulin expression by RNA interference in human embryonic stem cells and embryonic carcinoma cells. Stem Cells 22 (2004) 659-668
31. Kehler J., Tolkunova E., Koschorz B., et al. Oct4 is required for primordial germ cell survival. EMBO Reports 5 (2004) 1078-1083
32. Cheng L., Sung M.T., Cossu-Rocca P., et al. OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. The Journal of Pathology 211 (2007) 1-9
33. De Jong J., and Looijenga L.H.J. Stem cell marker OCT3/4 in tumor biology and germ cell tumor diagnostics: history and future. OCT3/4 in oncogenesis. Critical Reviews in Oncogenesis 12 (2006) 171-203
34. De Jong J., Stoop J., Dohle G.R., et al. Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumors. The Journal of Pathology 206 (2005) 242-249
35. Looijenga L.H.J., Stoop H., De Leeuw P.J.C., et al. POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. Cancer Research 63 (2003) 2244-2250
36. Cools M., Van Aerde K., Kersemaekers A.M., et al. From gonadal maturation delay towards carcinoma in situ of the testes in patients with undervirilization syndromes. The Journal of Clinical Endocrinology and Metabolism 90 (2005) 5295-5303
37. Kersemaekers A.M., Honecker F., Cools M., et al. Identification of germ cells at risk for neoplastic transformation in gonadoblastomas: An immunohistochemical study for OCT3/4 and TSPY. Human Pathology 36 (2005) 512-521
38. Cools M., Drop S.L., Wolffenbuttel K.P., et al. Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers. Endocrine Reviews 27 (2006) 468-484
39. Scully R.E. Gonadoblastoma/A review of 74 cases. Cancer 25 (1970) 1340-1356
40. JÆrgensen N., Müller J., Jaubert F., et al. Heterogeneity of gpnadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cels. Histopathology 30 (1997) 177-186
41. Hart A.H., Hartley L., Ibrahim M., et al. Identification, cloning and expression analysis of the pluripotency promoting Nanog genes in mouse and human. Developmental Dynamics 230 (2004) 187-198
42. Hoei-Hansen C.E., Almstrup K., Nielsen J.E., et al. Stem cell pluripotency factor NANOG is expressed in human fetal gonocytes, testicular carcinoma in situ and germ cell tumours. Histopathology 47 (2005) 48-56
43. Giwercman A., Müller J., and Skakkebæk N.E. Prevalence of carcinoma-in situ and other histopathological abnormalities in testes from 399 men who died suddenly and unexpectedly. The Journal of Urology 145 (1991) 77-80
44. Giwercman A., and Skakkebæk N.E. Carcinoma in situ of the testis: Biology, screening and management. European Urology 23 (1993) 19-21
45. Cools M., Stoop H., Kersemaekers A.M., et al. Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. The Journal of Clinical Endocrinology and Metabolism 91 (2006) 2404-2413
46. Hannema S.E., Scott I.S., Rajpert-De Meyts E., et al. Testicular development in the complete androgen insensitivity syndrome. The Journal of Pathology 208 (2006) 518-527
47. Cools M., Honecker F., Stoop H., et al. Maturation delay of germ cells in trisomy 21 fetuses results in increase risk for the development of testicular germ cell tumors. Human Pathology 37 (2006) 101-111
48. Volkl T.M., Langer T., Aigner T., et al. Klinefelter syndrome and mediastinal germ cell tumors. American Journal of Medical Genetics. Part A 140 (2006) 471-481
49. Aksglaede L., Wikstrom A.M., Rajpert-De Meyts E., et al. Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Human Reproduction Update 12 (2006) 39-48
50. Page D.C. Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101 supplement (1987) 151-155
51. Salo P., Kaariainen H., Petrovic V., et al. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Genes Chromosomes & Cancer 14 (1995) 210-214
52. Muroya K., Ishii T., Nakahori Y., et al. Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: molecular analysis in four patients. Genes Chromosomes & Cancer 25 (1999) 40-45
53. Schnieders F., Dork T., Arnemann J., et al. Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Human Molecular Genetics 5 (1996) 1801-1807
54. Hildenbrand R., Schroder W., Brude E., et al. Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome. The Journal of Pathology 189 (1999) 623-626
55. Lau Y.F. Gonadoblastoma, Testicular and Prostate Cancers, and the TSPY Gene. American Journal of Human Genetics 64 (1999) 921-927
56. Lau Y., Chou P., Iezzoni J., et al. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Cytogenetics and Cell Genetics 91 (2000) 160-164
57. Arnemann J., Jakubiczka S., Thuring S., et al. Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY. Genomics 11 (1991) 108-114
58. Zhang J.S., Yang-Feng T.L., Muller U., et al. Molecular isolation and characterization of an expressed gene from the human Y chromosome. Human Molecular Genetics 1 (1992) 717-726
59. Manz E., Schnieders F., Brechlin A.M., et al. TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome. Genomics 17 (1993) 726-731
60. Schubert S., Skawran B., Dechend F., et al. Generation and characterization of a transgenic mouse with a functional human TSPY. Biology of Reproduction 69 (2003) 968-975
61. Lau Y.F., Lau H.W., and Komuves L.G. Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenetic and Genome Research 101 (2003) 250-260
62. Hahn W.C., Counter C.M., Lundberg A.S., et al. Creation of human tumour cells with defined genetic elements. Nature 400 (1999) 464-468
63. Wright W.E., Piatyszek M.A., Rainey W.E., et al. Telomerase activity in human germline and embryonic tissues and cells. Developmental Genetics 18 (1996) 173-179
64. Albanell J., Bosl G.J., Reuter V.E., et al. Telomerase activity in germ cell cancers and mature teratomas. Journal of the National Cancer Institute 91 (1999) 1321-1326
65. Nowak R., Sikora K., Pietas A., et al. Germ cell-like telomeric length homeostasis in nonseminomatous testicular germ cell tumors. Oncogene 19 (2000) 4075-4078
66. Schrader M., Heicappell R., Muller M., et al. Molecular markers in testicular germ cell tumors-objects of clinical research or close to becoming clinical tools?. Onkologie 24 (2001) 144-148
67. Schrader M., Burger A.M., Muller M., et al. Quantification of human telomerase reverse transcriptase mRNA in testicular germ cell tumors by quantitative fluorescence real-time RT-PCR. Oncology Reports 9 (2002) 1097-1105
68. Van Gurp R.J.L.M., Oosterhuis J.W., Kalscheuer V., et al. Human testicular germ cell tumors show biallelic expression of the H19 and IGF2 gene. Journal of the National Cancer Institute 86 (1994) 1070-1075
69. Looijenga L.H., Gillis A.J., van Gurp R.J., et al. X inactivation in human testicular tumors. XIST expression and androgen receptor methylation status. The American Journal of Pathology 151 (1997) 581-590
70. Looijenga L.H.J., Verkerk A.J.M.H., de Groot N., et al. H19 in normal development and neoplasia. Molecular Reproduction and Development 46 (1997) 419-439
71. Looijenga L.H.J., Verkerk A.J.M.H., Dekker M.C., et al. Genomic imprinting in testicular germ cell tumours. APMIS 106 (1998) 187-197
72. Sievers S., Alemazkour K., Zahn S., et al. IGF2/H19 imprinting analysis of human germ cell tumors (GCTs) using the methylation-sensitive single-nucleotide primer extension method reflects the origin of GCTs in different stages of primordial germ cell development. Genes Chromosomes Cancer 44 (2005) 256-264
73. Holm T.M., Jackson-Grusby L., Brambrink T., et al. Global loss of imprinting leads to widespread tumorigenesis in adult mice. Cancer Cell 8 (2005) 275-285
74. Kersemaekers A.M.F., Mayer F., Molier M., et al. Role of P53 and MDM2 in treatment response of human germ cell tumors. Journal of Clinical Oncology 20 (2002) 1551-1561
75. Mayer F., Kersemaekers A.M., Oosterhuis J.W., et al. p53 and MDM2 in germ cell cancer treatment response. Journal of Clinical Oncology 20 (2002) 3928-3929
76. Masters J.R., and Koberle B. Curing metastatic cancer: lessons from testicular germ-cell tumours. Nature Reviews. Cancer 3 (2003) 517-525
77. Woods D.B., and Vousden K.H. Regulation of p53 function. Experimental Cell Research 264 (2001) 56-66
78. Braig M., and Schmitt C.A. Oncogene-induced senescence: putting the brakes on tumor development. Cancer Research 66 (2006) 2881-2884
79. Voorhoeve P.M., le Sage C., Schrier M., et al. A genetic screen implicates miRNA-372 and miRNA-373 as oncogenes in testicular germ cell tumors. Cell 124 (2006) 1169-1181