Gonadal tumours and DSD

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 24, Issue 2, 2010, Pages 291-310

  Looijenga, Leendert H J ^a   Hersmus, Remko ^a   De Leeuw, Bertie H C G M ^a   Stoop, Hans ^a   Cools, Martine ^b   Oosterhuis, J Wolter ^a   Drop, Stenvert L S ^c   Wolffenbuttel, Katja P ^c  

^a JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

carcinoma in situ (CIS); disorders of sex development (DSD); germ cell tumours (GCTs); gonadal dysgenesis; gonadoblastoma (GB); maturation delay; non seminoma; OCT3 4; seminoma; stem cell factor (SCF); testicularisation; testis specific protein on the Y chromosome (TSPY); undervirilisation

Indexed keywords

ALKALINE PHOSPHATASE; ESTROGEN; OCTAMER TRANSCRIPTION FACTOR 4; STEM CELL FACTOR; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG; SOX1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADOLESCENT; ADULT; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; BIRTH ORDER; BIRTH WEIGHT; CARCINOMA IN SITU; CHORIOCARCINOMA; CHROMOSOME ABERRATION; CLINICAL DECISION MAKING; CRYPTORCHISM; DENYS DRASH SYNDROME; DISEASE ASSOCIATION; DISORDERS OF SEX DEVELOPMENT; DYSGERMINOMA; EARLY DIAGNOSIS; EMBRYO DEVELOPMENT; EMBRYONAL CARCINOMA; EMBRYONIC STEM CELL; FAMILY HISTORY; FEMALE; FRASIER SYNDROME; GONADAL DYSGENESIS; GONADECTOMY; GONADOBLASTOMA; HERMAPHRODITISM; HUMAN; IMMUNOHISTOCHEMISTRY; KLINEFELTER SYNDROME; LEYDIG CELL; MALE; MALE INFERTILITY; PATHOGENESIS; PRENATAL DEVELOPMENT; PRIMORDIAL GERM CELL; PROTEIN EXPRESSION; RISK FACTOR; SEMINOMA; SERTOLI CELL; SPERMATOCYTE; TERATOMA; TURNER SYNDROME; VIRILIZATION; Y CHROMOSOME; YOLK SAC TUMOR; CASE REPORT; GENETICS; GERM CELL; GONAD; GROWTH, DEVELOPMENT AND AGING; NEOPLASM; PATHOLOGY; REVIEW; SEX DIFFERENTIATION DISORDER; TESTIS TUMOR;

ADOLESCENT; ADULT; DENYS-DRASH SYNDROME; GERM CELLS; GONADAL DYSGENESIS; GONADS; HUMANS; MALE; NEOPLASMS, GERM CELL AND EMBRYONAL; RISK FACTORS; SEMINOMA; SEX DIFFERENTIATION DISORDERS; SOXB1 TRANSCRIPTION FACTORS; TERATOMA; TESTICULAR NEOPLASMS;

EID: 77956635123     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2009.10.002     Document Type: Review

References (145)

1. J. Oosterhuis, and L. Looijenga Testicular germ-cell tumours in a broader perspective Nature Reviews. Cancer 5 3 2005 Mar 210 222
2. A. McLaren Primordial germ cells in the mouse Developmental Biology 262 1 2003 Oct 1 1 15
3. P.J. Donovan The germ cell-the mother of all stem cells The International Journal of Developmental Biology 42 7 1998 1043 1050
4. G.J. van de Geijn, R. Hersmus, and L.H. Looijenga Recent developments in testicular germ cell tumor research Birth Defects Research. Part C, Embryo Today: Reviews 87 1 2009 Mar 96 113
5. P.J. Donovan Growth factor regulation of mouse primordial germ cell development Current Topics in Developmental Biology 29 1994 189 225
6. I. Godin, R. Deed, and J. Cooke Effects of the steel gene product on mouse primordial germ cells in culture Nature 352 1991 807 809
7. C.C. Wylie The biology of primordial germ cells European Urology 23 1993 62 67
8. C. Runyan, K. Schaible, and K. Molyneaux Steel factor controls midline cell death of primordial germ cells and is essential for their normal proliferation and migration Development (Cambridge, England) 133 24 2006 Dec 4861 4869
9. K. Hara, M. Kanai-Azuma, and M. Uemura Evidence for crucial role of hindgut expansion in directing proper migration of primordial germ cells in mouse early embryogenesis Developmental Biology 330 2 2009 Jun 15 427 439
10. P.E. Szabo, and J.R. Mann 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
11. M.A. Surani Reprogramming of genome function through epigenetic inheritance Nature 414 6859 2001 Nov 1 122 128
12. D. Wilhelm, S. Palmer, and P. Koopman Sex determination and gonadal development in mammals Physiological Reviews 87 1 2007 Jan 1 28
13. J.C. Polanco, and P. Koopman Sry and the hesitant beginnings of male development Developmental Biology 302 1 2007 Feb 1 13 24
14. D. Wilhelm, and P. Koopman The makings of maleness: towards an integrated view of male sexual development Nature Reviews. Genetics 7 8 2006 Aug 620 631
15. C. Ottolenghi, M. Uda, and L. Crisponi Determination and stability of sex BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology 29 1 2007 Jan 15 25
16. E. Rajpert-De Meyts, N. Jorgensen, and K. Brondum-Nielsen Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia APMIS: acta pathologica, microbiologica, et immunologica Scandinavica 106 1 1998 198 204 discussion -6
17. N. Jørgensen, E. Rajpert-De Meyts, and N. Graem Expression of immunohistochemical markers for testicular carcinoma in situ by normal fetal germ cells Laboratory Investigation; a Journal of Technical Methods and Pathology 72 1995 223 231
18. F. Honecker, H. Stoop, and R. De Krijger Pathobiological implications of the expression of markers of testicular carcinoma in situ by foetal germ cells The Journal of Pathology 203 2004 849 857
19. T.L. Gaskell, A. Esnal, and L.L. Robinson Immunohistochemical profiling of germ cells within the human fetal testis: identification of three subpopulations Biology of Reproduction 71 6 2004 Dec 2012 2021
20. I. Gashaw, O. Dushaj, and R. Behr Novel germ cell markers characterize testicular seminoma and fetal testis Molecular Human Reproduction 13 10 2007 Oct 721 727
21. C.L. Kerr, C.M. Hill, and P.D. Blumenthal Expression of pluripotent stem cell markers in the human fetal testis Stem Cells 26 2 2008 Feb 412 421
22. H. Stoop, F. Honecker, and G. van de Geijn Stem cell factor as a novel diagnostic marker for early malignant germ cells The Journal of Pathology 216 2008 43 54
23. R.E. Scully Germ cell tumors R.E. Scully, Tumors of the ovary and maldeveloped gonads 1st ed. 1978 Armed Forces of Pathology Washington, DC 226 286
24. F.K. Mostofi, and I.A. Sesterhenn Pathology of germ cell tumors of testes Progress in Clinical and Biological Research 203 1985 1 34
25. F.K. Mostofi, I.A. Sesterhenn, and C.J.J. Davis Immunopathology of germ cell tumors of the testis Seminars in Diagnostic Pathology 4 1987 320 341
26. J.P. Donohue The pathology of germ cell tumors of the testis J.A. Libertino, Testis tumors (International Perspectives in Urology) 7th ed. 1990 Williams&Wilkins Baltimore\London 23 54
27. L.H. Looijenga, and J.W. Oosterhuis Pathogenesis of testicular germ cell tumours Reviews of Reproduction 4 2 1999 May 90 100
28. L.H. Looijenga, H. de Munnik, and J.W. Oosterhuis A molecular model for the development of germ cell cancer International Journal of Cancer 83 6 1999 Dec 10 809 814
29. J.W. Oosterhuis, and L.H. Looijenga Current views on the pathogenesis of testicular germ cell tumours and perspectives for future research: highlights of the 5th Copenhagen Workshop on Carcinoma in situ and Cancer of the Testis APMIS: acta pathologica, microbiologica, et immunologica Scandinavica 111 1 2003 Jan 280 289
30. R.C.B. Pugh Combined tumours R.C.B. Pugh, Pathology of the testis 1976 Blackwell Oxford 245 258
31. P.J. Woodward, A. Heidenreich, and L.H.J. Looijenga Testicular germ cell tumors J.N. Eble, G. Sauter, J.I. Epstein, I.A. Sesterhann, World Health Organization classification of tumours pathology and genetics of the urinary system and male genital organs 2004 IARC Press Lyon 217 278
32. Y. Hong, and P.J. Stambrook Restoration of an absent G1 arrest and protection from apoptosis in embryonic stem cells after ionizing radiation Proc Natl Acad Sci U S A 101 40 2004 Oct 5 14443 14448
33. J.R. Masters, and B. Koberle Curing metastatic cancer: lessons from testicular germ-cell tumours Nature Reviews. Cancer 3 7 2003 Jul 517 525
34. N.E. Skakkebæk Possible carcinoma-in-situ of the testis Lancet 1972 516 517
35. V. Loy, and K.P. Dieckmann Carcinoma in situ of the testis: intratubular germ cell neoplasia or testicular intraepithelial neoplasia? Human Pathology 21 1990 457 458
36. L.H. Looijenga, H. Stoop, and R. Hersmus Genomic and expression profiling of human spermatocytic seminomas: pathogenetic implications International Journal of Andrology 30 4 2007 Aug 328 335 discussion 35-6
37. J.W. Oosterhuis, H. Stoop, and F. Honecker Why human extragonadal germ cell tumors occur in the midline of the body; old concepts, new perspectives International Journal of Andrology 30 2007 256 263
38. R.E. Scully Gonadoblastoma/A review of 74 cases Cancer 25 1970 1340 1356
39. N. Jørgensen, J. Muller, and F. Jaubert Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells Histopathology 30 2 1997 177 186
40. A.M. Kersemaekers, F. Honecker, and M. Cools 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
41. M. Cools, H. Stoop, and A.M. Kersemaekers Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads The Journal of Clinical Endocrinology and Metabolism 91 6 2006 Jun 2404 2413
42. M. Cools, S.L. Drop, and K.P. Wolffenbuttel Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers Endocrine Reviews 27 2006 May 30 468 484
43. L.H. Looijenga, R. Hersmus, and J.W. Oosterhuis Tumor risk in disorders of sex development (DSD) Best Practice & Research. Clinical Endocrinology & Metabolism 21 3 2007 Sep 480 495
44. R. Hersmus, B.H.C.G.M. de Leeuw, and K.P. Wolffenbuttel New insights into type II Germ Cell Tumor pathogenesis based on the studies of patients with various forms of disorders of sex development (DSD) Molecular and Cellular Endocrinology 291 2008 1 10
45. R.J. Van Gurp, J.W. Oosterhuis, and V. Kalscheuer Human testicular germ cell tumors show biallelic expression of the H19 and IGF2 gene Journal of the National Cancer Institute 86 1994 1070 1075
46. J. Rachmilewitz, M. Elkin, and L.H.J. Looijenga Characterization of the imprinted IPW gene: allelic expression in normal and tumorigenic human tissues Oncogene 13 1996 1687 1692
47. A.J. Verkerk, I. Ariel, and M.C. Dekker Unique expression patterns of H19 in human testicular cancers of different etiology Oncogene 14 1 1997 95 107
48. L.H. Looijenga, A.J. Verkerk, and M.C. Dekker Genomic imprinting in testicular germ cell tumours APMIS: acta pathologica, microbiologica, et immunologica Scandinavica 106 1 1998 187 195 discussion 96-7
49. S. Sievers, K. Alemazkour, and D. Zahn 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 3 2005 256 264
50. T. Kawakami, C. Zhang, and Y. Okada Erasure of methylation imprint at the promoter and CTCF-binding site upstream of H19 in human testicular germ cell tumors of adolescents indicate their fetal germ cell origin Oncogene 25 23 2006 Jun 1 3225 3236
51. K. Almstrup, C.E. Hoei-Hansen, and J.E. Nielsen Genome-wide gene expression profiling of testicular carcinoma in situ progression into overt tumours British Journal of Cancer 92 10 2005 May 23 1934 1941
52. H. Mller Clues to the aetiology of testicular germ cell tumours from descriptive epidemiology European Urology 23 1993 8 15
53. H. Moller, and N.E. Skakkebæk Risk of testicular cancer and cryptorchidism in relation to socio-economical status and related factors: case-control studies in Denmark International Journal of Cancer 66 1996 287 293
54. C. Krausz, and L.H.J. Looijenga Genetic aspects of testicular germ cell tumors Cell Cycle 7 2008 3519 3524
55. R.S. Chaganti, and G.J. Bosl Germ cell tumors: unraveling a biological paradox Laboratory Investigation; a Journal of Technical Methods and Pathology 73 1995 593 595
56. H. Moller Clues to the aetiology of testicular germ cell tumours from descriptive epidemiology European Urology 23 1 1993 8 13 discussion 4-5
57. N.E. Skakkebaek, E. Rajpert-De Meyts, and N. Jorgensen Germ cell cancer and disorders of spermatogenesis: an environmental connection? APMIS: acta pathologica, microbiologica, et immunologica Scandinavica 106 1 1998 Jan 3 11 discussion 2
58. R. Jacobsen, E. Bostofte, and G. Engholm Risk of testicular cancer in men with abnormal semen characteristics: cohort study BMJ (Clinical Research Ed.) 321 7264 2000 789 792
59. K.A. McGlynn, S.S. Devesa, and A.J. Sigurdson Trends in the incidence of testicular germ cell tumors in the United States Cancer 97 1 2003 Jan 1 63 70
60. B. Pamenter, J.S. De Bono, and I.L. Brown Bilateral testicular cancer: a preventable problem? Experience from a large cancer centre BJU International 92 1 2003 Jul 43 46
61. J.D. Raman, C.F. Nobert, and M. Goldstein Increased incidence of testicular cancer in men presenting with infertility and abnormal semen analysis The Journal of Urology 174 5 2005 Nov 1819 1822 discussion 22
62. G.S. Sonke, S. Chang, and S.S. Strom Prenatal and perinatal risk factors and testicular cancer: a hospital-based case-control study Oncology Research 16 8 2007 383 387
63. M.B. Cook, B.I. Graubard, and M.V. Rubertone Perinatal factors and the risk of testicular germ cell tumors International Journal of Cancer 122 2008 Mar 6 2600 2606
64. T.J. Walsh, M.A. Dall'era, and M.S. Croughan Prepubertal orchiopexy for cryptorchidism may be associated with lower risk of testicular cancer The Journal of Urology 178 4 2007 Oct 1440 1446
65. A. Pettersson, L. Richiardi, and A. Nordenskjold Age at surgery for undescended testis and risk of testicular cancer The New England Journal of Medicine 356 18 2007 May 3 1835 1841
66. E.A. Rapley, G.P. Crockford, and D. Teare Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours Nature Genetics 24 2 2000 197 200
67. M.F. Holzik, E.A. Rapley, and H.J. Hoekstra Genetic predisposition to testicular germ-cell tumours The Lancet Oncology 5 6 2004 Jun 363 371
68. E.A. Rapley, C. Turnbull, and A.A. Al Olama A genome-wide association study of testicular germ cell tumor Nature Genetics 2009 May 31
69. P.A. Kanetsky, N. Mitra, and S. Vardhanabhuti Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer Nature Genetics 2009 May 31
70. K. Hemminki, X. Li, and K. Czene Cancer risks in first-generation immigrants to Sweden International Journal of Cancer 99 2 2002 May 10 218 228 (Pubitemid 34309479)
71. A. Michos, F. Xue, and K.B. Michels Birth weight and the risk of testicular cancer: a meta-analysis International Journal of Cancer 121 5 2007 Sep 1 1123 1131
72. M. Cools, F. Honecker, and H. Stoop 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
73. N.E. Skakkebæk, E. Rajpert-De Meyts, and K.M. Main Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects Human Reproduction (Oxford, England) 16 5 2001 972 978 (Pubitemid 32451837)
74. J.S. Fisher, S. Macpherson, and N. Marchetti Human 'testicular dysgenesis syndrome': a possible model using in-utero exposure of the rat to dibutyl phthalate Human Reproduction (Oxford, England) 18 7 2003 Jul 1383 1394
75. N.E. Skakkebaek Testicular dysgenesis syndrome Hormone Research 60 Suppl. 3 2003 49
76. E. Rajpert-De Meyts Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects Human Reproduction Update 12 3 2006 May-Jun 303 323
77. S.B. Sonne, D.M. Kristensen, and G.W. Novotny Testicular dysgenesis syndrome and the origin of carcinoma in situ testis International Journal of Andrology 31 2008 Jan 16 275 287
78. I.A. Hughes, C. Houk, and S.F. Ahmed Consensus statement on management of intersex disorders Archives of Disease in Childhood 2006 Apr 19
79. I.A. Hughes Disorders of sex development: a new definition and classification Best Practice & Research. Clinical Endocrinology & Metabolism 22 1 2008 Feb 119 134
80. K. Isurugi, S. Imao, and K. Hirose Seminoma in Klinefelter's syndrome with 47, XXY, 15s+ karyotype Cancer 39 5 1977 2041 2047
81. M.W. Lee, and R.L. Stephens Klinefelter's syndrome and extragonadal germ cell tumors Cancer 60 5 1987 1053 1055
82. C.R. Nichols, N.A. Heerema, and C. Palmer Klinefelter's syndrome associated with mediastinal germ cell neoplasms Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology 5 8 1987 1290 1294
83. H. Hasle, B.B. Jacobsen, and P. Asschenfeldt Mediastinal germ cell tumour associated with Klinefelter syndrome. A report of case and review of the literature European Journal of Pediatrics 151 1992 735 739
84. H. Hasle, A. Mellemgaard, and J. Nielsen Cancer incidence in men with Klinefelter syndrome British Journal of Cancer 71 1995 416 420
85. T.M. Volkl, T. Langer, and T. Aigner Klinefelter syndrome and mediastinal germ cell tumors American Journal of Medical Genetics. Part A 140 5 2006 Mar 1 471 481
86. L. Aksglaede, A.M. Wikstrom, and E. Rajpert-De Meyts Natural history of seminiferous tubule degeneration in Klinefelter syndrome Human Reproduction Update 12 1 2006 Jan-Feb 39 48
87. D.N. Modi, S. Sane, and D. Bhartiya Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads Molecular Human Reproduction 9 4 2003 Apr 219 225
88. M. Cools, K. van Aerde, and A.M. Kersemaekers Morphological and immunohistochemical differences between gonadal maturation delay and early germ cell neoplasia in patients with undervirilization syndromes The Journal of Clinical Endocrinology and Metabolism 90 9 2005 Sep 5295 5303
89. M. Cools, L.H. Looijenga, and K.P. Wolffenbuttel Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors World Journal of Pediatrics: WJP 5 2 2009 93 102
90. M.A. Batata, W.F. Whitmore Jr., and F.C.H. Chu Cryptorchidism and testicular cancer The Journal of Urology 124 1980 382 387
91. J. Muller, N.E. Skakkebaek, and O.H. Nielsen Cryptorchidism and testis cancer Cancer 54 1984 629 634
92. A. Giwercman, J. Grindsted, and B. Hansen Testicular cancer risk in boys with maldescended testis: a cohort study The Journal of Urology 138 5 1987 1214 1216
93. R.P. Abratt, V.B. Reddi, and L.A. Sarembock Testicular cancer and cryptorchidism British Journal of Urology 70 1992 656 659
94. J.O. Ogunbiyi, O.B. Shittu, and P.U. Aghadiuno Seminoma arising in cryptorchid testes in Nigerian males East African Medical Journal 73 2 1996 129 132
95. S.S. Susnerwala, S.C. Pande, and S.K. Shrivastava Dysgerminoma of the ovary: review of 27 cases Journal of Surgical Oncology 46 1 1991 Jan 43 47
96. J. Dietl, H.P. Horny, and P. Ruck Dysgerminoma of the ovary. An immunohistochemical study of tumor- infiltrating lymphoreticular cells and tumor cells Cancer 71 8 1993 2562 2568
97. S.N. Chow, J.H. Yang, and Y.H. Lin Malignant ovarian germ cell tumors International Journal of Gynecologyand Obstetrics 53 1996 151 158
98. M.T. Cusido, B. Jorda, and J. Gonzalez Ovarian germ cell tumors European Journal of Gynaecological Oncology 19 2 1998 130 134
99. K. Tewari, F. Cappuccini, and P.J. Disaia Malignant germ cell tumors of the ovary Obstetrics and Gynecology 95 1 2000 Jan 128 133
100. Y. Li, E. Vilain, and F. Conte Rajpert-De Meyts E, Lau YF. Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ Urologic Oncology 25 2 2007 Mar-Apr 141 146
101. R. Hersmus, N. Kalfa, and B. De Leeuw FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD) The Journal of Pathology 215 2008 31 38
102. D.C. Page Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads Development (Cambridge, England) 101 Suppl 1987 151 155
103. B. Bianco, M. Lipay, and A. Guedes SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome International Journal of Gynecological Pathology 2009 Jan 30
104. R. Hersmus, B.H. de Leeuw, and H. Stoop A novel SRY missense mutation affecting nuclear import in a 46, XY female patient with bilateral gonadoblastoma European Journal of Human Genetics : EJHG 2009 Jun 10
105. S.B. Ng, M.H. Yong, and L.A. Knight Gonadoblastoma-associated mixed germ cell tumour in 46, XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile Histopathology 52 5 2008 Apr 644 646
106. M. Beaulieu Bergeron, D. Bouron-Dal Soglio, and A. Maietta Co-existence of a choriocarcinoma and a gonadoblastoma in the gonad of a 46, XY female: A SNP array analysis Pediatric and Developmental Pathology 2009 May 8 1
107. U. Kini, G. Bantwal, and V. Ayyar Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype The Journal of the Association of Physicians of India 56 2008 Jul 549 551
108. R.A. Simon, T.S. Laughlin, and B. Nuccie 46 XY phenotypic female adolescent with bilateral gonadal tumors consisting of five different components International Journal of Gynecological Pathology 27 3 2008 Jul 407 411
109. M. Cools, M. Boter, and R. van Gurp Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads Clinical Endocrinology 67 2 2007 Aug 184 192
110. T. Vogel, and J. Schmidtke Structure and function of TSPY, the Y-chromosome gene coding for the "testis-specific protein" Cytogenetics and Cell Genetics 80 1-4 1998 209 213
111. Y.F. Lau Gonadoblastoma, testicular and prostate cancers, and the TSPY gene American Journal of Human Genetics 64 4 1999 921 927
112. Y. Li, Z.L. Tabatabai, and T.L. Lee The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors Human Pathology 38 10 2007 Oct 1470 1481
113. Y.F. Lau, H.W. Lau, and L.G. Komuves Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer Cytogenetic and Genome Research 101 3-4 2003 250 260
114. F. Schnieders, T. Dork, and J. Arnemann Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues Human Molecular Genetics 5 11 1996 1801 1807
115. R. Hildenbrand, W. Schroder, and E. Brude 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 4 1999 623 626
116. M.L. Delbridge, G. Longepied, and D. Depetris TSPY, the candidate gonadoblastoma gene on the human Y chromosome, has a widely expressed homologue on the X - implications for Y chromosome evolution Chromosome Research 12 4 2004 345 356
117. S.W. Oram, X.X. Liu, and T.L. Lee TSPY potentiates cell proliferation and tumorigenesis by promoting cell cycle progression in HeLa and NIH3T3 cells BMC Cancer 6 2006 154
118. L.H.J. Looijenga, G. Zafarana, and B. Grygalewicz Role of gain of 12p in germ cell tumour development APMIS: acta pathologica, microbiologica, et immunologica Scandinavica 111 2003 161 173
119. A. Hammes, J.K. Guo, and G. Lutsch Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation Cell 106 3 2001 319 329
120. V. Schumacher, B. Gueler, and L.H. Looijenga Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome Molecular Reproduction and Development 2008 Feb 12
121. J.G. Andrade, M.S. Guaragna, and F.C. Soardi Clinical and genetic findings of five patients with WT1-related disorders Arquivos brasileiros de endocrinologia e metabologia 52 8 2008 Nov 1236 1243
122. L.H.J. Looijenga, H. Stoop, and P.J.C. De Leeuw POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors Cancer Research 63 2003 2244 2250
123. J. de Jong, H. Stoop, and G.R. Dohle Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumours The Journal of Pathology 206 2 2005 Jun 242 249
124. J. De Jong, and L.H.J. Looijenga 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 3-4 2006 171 203
125. L. Cheng, M.T. Sung, and P. Cossu-Rocca OCT4: biological functions and clinical applications as a marker of germ cell neoplasia The Journal of Pathology 211 1 2007 Jan 1 9
126. N.J. van Casteren, W.P. Boellaard, and G.R. Dohle Heterogeneous distribution of ITGCNU in an adult testis: consequences for biopsy-based diagnosis International Journal of Surgical Pathology 16 1 2008 Jan 21 24
127. N.J. van Casteren, H. Stoop, and G.R. Dohle noninvasive detection of testicular carcinoma in situ in semen using OCT3/4 European Urology 54 1 2008 Jul 153 160
128. S. Lev, J.M. Blechman, and D. Givol Steel factor and c-kit protooncogene: genetic lessons in signal transduction Critical Reviews in Oncogenesis 5 2-3 1994 141 168
129. W. Yan, J. Kero, and I. Huhtaniemi Stem cell factor functions as a survival factor for mature Leydig cells and a growth factor for precursor Leydig cells after ethylene dimethane sulfonate treatment: implication of a role of the stem cell factor/c-Kit system in Leydig cell development Developmental Biology 227 1 2000 Nov 1 169 182
130. K. Biermann, D. Klingmuller, and A. Koch Diagnostic value of markers M2A, OCT3/4, AP-2gamma, PLAP and c-KIT in the detection of extragonadal seminomas Histopathology 49 3 2006 Sep 290 297
131. N.C. Goddard, A. McIntyre, and B. Summersgill KIT and RAS signalling pathways in testicular germ cell tumours: new data and a review of the literature International Journal of Andrology 30 4 2007 Aug 337 348 discussion 49
132. K.R. McIntire, B. Summersgill, and B. Grygalewicz Amplification and overexpression of the KIT gene is associated with progression in the seminoma subtype of testicular germ cell tumors of adolescents and adults Cancer Research 65 2005 8085 8089
133. L.H.J. Looijenga, P.J.C. De Leeuw, and M. Van Oorschot Stem cell factor receptor (c-KIT) codon 816 mutations predict development of bilateral testicular germ cell tumors Cancer Research 63 2003 7674 7678
134. K. Biermann, F. Goke, and D. Nettersheim c-KIT is frequently mutated in bilateral germ cell tumours and down-regulated during progression from intratubular germ cell neoplasia to seminoma The Journal of Pathology 213 3 2007 Nov 311 318
135. C.E. Hoei-Hansen, S.M. Kraggerud, and V.M. Abeler Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers Molecular Cancer 6 2007 12
136. B.E. Henderson, L. Bernstein, and R.K. Ross The early in utero oestrogen and testosterone environment of blacks and whites: potential effects on male offspring British Journal of Cancer 57 2 1988 216 218
137. H.K. Weir, L.D. Marrett, and N. Kreiger Pre-natal and peri-natal exposures and risk of testicular germ-cell cancer International Journal of Cancer 87 3 2000 438 443
138. T.J. Wilkinson, B.M. Colls, and P.J. Schluter Increased incidence of germ cell testicular cancer in New Zealand Maoris British Journal of Cancer 65 5 1992 769 771
139. J.R. Starr, C. Chen, and D.R. Doody Risk of testicular germ cell cancer in relation to variation in maternal and offspring cytochrome p450 genes involved in catechol estrogen metabolism Cancer Epidemiology, Biomarkers & Prevention 14 9 2005 Sep 2183 2190
140. J. Toppari, J.C. Larsen, and P. Christiansen Male reproductive health and environmental xenoestrogens Environmental Health Perspectives 104 Suppl. 4 1996 741 803
141. E. Rajpert-De Meyts, J. Toppari, and C.E. Hoi-Hansen Testicular neoplasia in childhood and adolescence Endocrine Development 5 2003 110 123
142. M. Welsh, P.T. Saunders, and M. Fisken Identification in rats of a programming window for reproductive tract masculinization, disruption of which leads to hypospadias and cryptorchidism The Journal of Clinical Investigation 118 4 2008 Apr 1479 1490
143. S.E. Hannema, I.S. Scott, and E. Rajpert-De Meyts Testicular development in the complete androgen insensitivity syndrome The Journal of Pathology 208 4 2006 Mar 518 527
144. A. Cheikhelard, Y. Morel, and E. Thibaud Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome The Journal of Urology 180 4 2008 Oct 1496 1501
145. S.F. Ahmed, O. Khwaja, and I.A. Hughes The role of a clinical score in the assessment of ambiguous genitalia BJU International 85 1 2000 Jan 120 124