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Best Practice & Research Clinical Endocrinology & Metabolism
Volume 24, Issue 2
, Pages 291-310
, April 2010
Gonadal tumours and DSD
References
- . Testicular germ-cell tumours in a broader perspective. Nature Reviews. Cancer. 2005 Mar;5(3):210–222
- . Primordial germ cells in the mouse. Developmental Biology. 2003 Oct 1;262(1):1–15
- . The germ cell–the mother of all stem cells. The International Journal of Developmental Biology. 1998;42(7):1043–1050
- . Recent developments in testicular germ cell tumor research. Birth Defects Research. Part C, Embryo Today: Reviews. 2009 Mar;87(1):96–113
- . Growth factor regulation of mouse primordial germ cell development. Current Topics in Developmental Biology. 1994;29:189–225
- Effects of the steel gene product on mouse primordial germ cells in culture. Nature. 1991;352:807–809
- . The biology of primordial germ cells. European Urology. 1993;23:62–67
- Steel factor controls midline cell death of primordial germ cells and is essential for their normal proliferation and migration. Development (Cambridge, England). 2006 Dec;133(24):4861–4869
- Evidence for crucial role of hindgut expansion in directing proper migration of primordial germ cells in mouse early embryogenesis. Developmental Biology. 2009 Jun 15;330(2):427–439
- . Biallelic expression of imprinted genes in the mouse germ line: implications for erasure, establishment, and mechanisms of genomic imprinting. Genes & Development. 1995;9:1857–1868
- . Reprogramming of genome function through epigenetic inheritance. Nature. 2001 Nov 1;414(6859):122–128
- . Sex determination and gonadal development in mammals. Physiological Reviews. 2007 Jan;87(1):1–28
- . Sry and the hesitant beginnings of male development. Developmental Biology. 2007 Feb 1;302(1):13–24
- . The makings of maleness: towards an integrated view of male sexual development. Nature Reviews. Genetics. 2006 Aug;7(8):620–631
- Determination and stability of sex. BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology. 2007 Jan;29(1):15–25
- Developmental arrest of germ cells in the pathogenesis of germ cell neoplasia. APMIS: acta pathologica, microbiologica, et immunologica Scandinavica. 1998;106(1):198–204discussion -6
- Expression of immunohistochemical markers for testicular carcinoma in situ by normal fetal germ cells. Laboratory Investigation; a Journal of Technical Methods and Pathology. 1995;72:223–231
- Pathobiological implications of the expression of markers of testicular carcinoma in situ by foetal germ cells. The Journal of Pathology. 2004;203:849–857
- Immunohistochemical profiling of germ cells within the human fetal testis: identification of three subpopulations. Biology of Reproduction. 2004 Dec;71(6):2012–2021
- Novel germ cell markers characterize testicular seminoma and fetal testis. Molecular Human Reproduction. 2007 Oct;13(10):721–727
- Expression of pluripotent stem cell markers in the human fetal testis. Stem Cells. 2008 Feb;26(2):412–421
- Stem cell factor as a novel diagnostic marker for early malignant germ cells. The Journal of Pathology. 2008;216:43–54
- . Germ cell tumors. In: Scully RE editors. Tumors of the ovary and maldeveloped gonads. 1st ed.. Washington, DC: Armed Forces of Pathology; 1978;p. 226–286
- . Pathology of germ cell tumors of testes. Progress in Clinical and Biological Research. 1985;203:1–34
- . Immunopathology of germ cell tumors of the testis. Seminars in Diagnostic Pathology. 1987;4:320–341
- . The pathology of germ cell tumors of the testis. In: Libertino JA editors. Testis tumors (International Perspectives in Urology). 7th ed.. Baltimore\London: Williams&Wilkins; 1990;p. 23–54
- . Pathogenesis of testicular germ cell tumours. Reviews of Reproduction. 1999 May;4(2):90–100
- . A molecular model for the development of germ cell cancer. International Journal of Cancer. 1999 Dec 10;83(6):809–814
- . 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. 2003 Jan;111(1):280–289
- . Combined tumours. In: Pugh RCB editors. Pathology of the testis. Oxford: Blackwell; 1976;p. 245–258
- Testicular germ cell tumors. In: Eble JN, Sauter G, Epstein JI, Sesterhann IA editor. World Health Organization classification of tumours pathology and genetics of the urinary system and male genital organs. Lyon: IARC Press; 2004;p. 217–278
- . Restoration of an absent G1 arrest and protection from apoptosis in embryonic stem cells after ionizing radiation. Proc Natl Acad Sci U S A. 2004 Oct 5;101(40):14443–14448
- . Curing metastatic cancer: lessons from testicular germ-cell tumours. Nature Reviews. Cancer. 2003 Jul;3(7):517–525
- . Possible carcinoma-in-situ of the testis. Lancet. 1972;516–517
- . Carcinoma in situ of the testis: intratubular germ cell neoplasia or testicular intraepithelial neoplasia?. Human Pathology. 1990;21:457–458
- Genomic and expression profiling of human spermatocytic seminomas: pathogenetic implications. International Journal of Andrology. 2007 Aug;30(4):328–335discussion 35–6
- Why human extragonadal germ cell tumors occur in the midline of the body; old concepts, new perspectives. International Journal of Andrology. 2007;30:256–263
- . Gonadoblastoma/A review of 74 cases. Cancer. 1970;25:1340–1356
- Heterogeneity of gonadoblastoma germ cells: similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. Histopathology. 1997;30(2):177–186
- Identification of germ cells at risk for neoplastic transformation in gonadoblastomas: an immunohistochemical study for OCT3/4 and TSPY. Human Pathology. 2005;36:512–521
- Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads. The Journal of Clinical Endocrinology and Metabolism. 2006 Jun;91(6):2404–2413
- Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocrine Reviews. 2006 May 30;27:468–484
- Tumor risk in disorders of sex development (DSD). Best Practice & Research. Clinical Endocrinology & Metabolism. 2007 Sep;21(3):480–495
- 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. 2008;291:1–10
- Human testicular germ cell tumors show biallelic expression of the H19 and IGF2 gene. Journal of the National Cancer Institute. 1994;86:1070–1075
- Characterization of the imprinted IPW gene: allelic expression in normal and tumorigenic human tissues. Oncogene. 1996;13:1687–1692
- Unique expression patterns of H19 in human testicular cancers of different etiology. Oncogene. 1997;14(1):95–107
- Genomic imprinting in testicular germ cell tumours. APMIS: acta pathologica, microbiologica, et immunologica Scandinavica. 1998;106(1):187–195discussion 96–7
- 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. 2005;44(3):256–264
- 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. 2006 Jun 1;25(23):3225–3236
- Genome-wide gene expression profiling of testicular carcinoma in situ progression into overt tumours. British Journal of Cancer. 2005 May 23;92(10):1934–1941
- . Clues to the aetiology of testicular germ cell tumours from descriptive epidemiology. European Urology. 1993;23:8–15
- . Risk of testicular cancer and cryptorchidism in relation to socio-economical status and related factors: case-control studies in Denmark. International Journal of Cancer. 1996;66:287–293
- . Genetic aspects of testicular germ cell tumors. Cell Cycle. 2008;7:3519–3524
- . Germ cell tumors: unraveling a biological paradox. Laboratory Investigation; a Journal of Technical Methods and Pathology. 1995;73:593–595
- . Clues to the aetiology of testicular germ cell tumours from descriptive epidemiology. European Urology. 1993;23(1):8–13discussion 4–5
- Germ cell cancer and disorders of spermatogenesis: an environmental connection?. APMIS: acta pathologica, microbiologica, et immunologica Scandinavica. 1998 Jan;106(1):3–11discussion 2
- Risk of testicular cancer in men with abnormal semen characteristics: cohort study. BMJ (Clinical Research Ed.). 2000;321(7264):789–792
- Trends in the incidence of testicular germ cell tumors in the United States. Cancer. 2003 Jan 1;97(1):63–70
- Bilateral testicular cancer: a preventable problem? Experience from a large cancer centre. BJU International. 2003 Jul;92(1):43–46
- . Increased incidence of testicular cancer in men presenting with infertility and abnormal semen analysis. The Journal of Urology. 2005 Nov;174(5):1819–1822discussion 22
- Prenatal and perinatal risk factors and testicular cancer: a hospital-based case-control study. Oncology Research. 2007;16(8):383–387
- Perinatal factors and the risk of testicular germ cell tumors. International Journal of Cancer. 2008 Mar 6;122:2600–2606
- Prepubertal orchiopexy for cryptorchidism may be associated with lower risk of testicular cancer. The Journal of Urology. 2007 Oct;178(4):1440–1446
- Age at surgery for undescended testis and risk of testicular cancer. The New England Journal of Medicine. 2007 May 3;356(18):1835–1841
- Localization to Xq27 of a susceptibility gene for testicular germ-cell tumours. Nature Genetics. 2000;24(2):197–200
- Genetic predisposition to testicular germ-cell tumours. The Lancet Oncology. 2004 Jun;5(6):363–371
- A genome-wide association study of testicular germ cell tumor. Nature Genetics. 2009 May 31;
- Common variation in KITLG and at 5q31.3 predisposes to testicular germ cell cancer. Nature Genetics. 2009 May 31;
- . Cancer risks in first-generation immigrants to Sweden. International Journal of Cancer. 2002 May 10;99(2):218–228
- . Birth weight and the risk of testicular cancer: a meta-analysis. International Journal of Cancer. 2007 Sep 1;121(5):1123–1131
- Maturation delay of germ cells in trisomy 21 fetuses results in increase risk for the development of testicular germ cell tumors. Human Pathology. 2006;37:101–111
- . Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Human Reproduction (Oxford, England). 2001;16(5):972–978
- Human ‘testicular dysgenesis syndrome’: a possible model using in-utero exposure of the rat to dibutyl phthalate. Human Reproduction (Oxford, England). 2003 Jul;18(7):1383–1394
- . Testicular dysgenesis syndrome. Hormone Research. 2003;60(Suppl. 3):49
- . Developmental model for the pathogenesis of testicular carcinoma in situ: genetic and environmental aspects. Human Reproduction Update. 2006 May–Jun;12(3):303–323
- Testicular dysgenesis syndrome and the origin of carcinoma in situ testis. International Journal of Andrology. 2008 Jan 16;31:275–287
- Consensus statement on management of intersex disorders. Archives of Disease in Childhood. 2006 Apr 19;
- . Disorders of sex development: a new definition and classification. Best Practice & Research. Clinical Endocrinology & Metabolism. 2008 Feb;22(1):119–134
- Seminoma in Klinefelter's syndrome with 47, XXY, 15s+ karyotype. Cancer. 1977;39(5):2041–2047
- . Klinefelter's syndrome and extragonadal germ cell tumors. Cancer. 1987;60(5):1053–1055
- Klinefelter's syndrome associated with mediastinal germ cell neoplasms. Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology. 1987;5(8):1290–1294
- Mediastinal germ cell tumour associated with Klinefelter syndrome. A report of case and review of the literature. European Journal of Pediatrics. 1992;151:735–739
- Cancer incidence in men with Klinefelter syndrome. British Journal of Cancer. 1995;71:416–420
- Klinefelter syndrome and mediastinal germ cell tumors. American Journal of Medical Genetics. Part A. 2006 Mar 1;140(5):471–481
- Natural history of seminiferous tubule degeneration in Klinefelter syndrome. Human Reproduction Update. 2006 Jan–Feb;12(1):39–48
- . Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads. Molecular Human Reproduction. 2003 Apr;9(4):219–225
- 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. 2005 Sep;90(9):5295–5303
- Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. World Journal of Pediatrics: WJP. 2009;5(2):93–102
- Cryptorchidism and testicular cancer. The Journal of Urology. 1980;124:382–387
- Cryptorchidism and testis cancer. Cancer. 1984;54:629–634
- Testicular cancer risk in boys with maldescended testis: a cohort study. The Journal of Urology. 1987;138(5):1214–1216
- . Testicular cancer and cryptorchidism. British Journal of Urology. 1992;70:656–659
- Seminoma arising in cryptorchid testes in Nigerian males. East African Medical Journal. 1996;73(2):129–132
- Dysgerminoma of the ovary: review of 27 cases. Journal of Surgical Oncology. 1991 Jan;46(1):43–47
- Dysgerminoma of the ovary. An immunohistochemical study of tumor- infiltrating lymphoreticular cells and tumor cells. Cancer. 1993;71(8):2562–2568
- Malignant ovarian germ cell tumors. International Journal of Gynecologyand Obstetrics. 1996;53:151–158
- Ovarian germ cell tumors. European Journal of Gynaecological Oncology. 1998;19(2):130–134
- Malignant germ cell tumors of the ovary. Obstetrics and Gynecology. 2000 Jan;95(1):128–133
- . 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. 2007 Mar-Apr;25(2):141–146
- 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. 2008;215:31–38
- . Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development (Cambridge, England). 1987;101(Suppl):151–155
- SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. International Journal of Gynecological Pathology. 2009 Jan 30;
- 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;
- 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. 2008 Apr;52(5):644–646
- 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
- 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. 2008 Jul;56:549–551
- 46 XY phenotypic female adolescent with bilateral gonadal tumors consisting of five different components. International Journal of Gynecological Pathology. 2008 Jul;27(3):407–411
- Impact of the Y-containing cell line on histological differentiation patterns in dysgenetic gonads. Clinical Endocrinology. 2007 Aug;67(2):184–192
- . Structure and function of TSPY, the Y-chromosome gene coding for the “testis-specific protein”. Cytogenetics and Cell Genetics. 1998;80(1–4):209–213
- . Gonadoblastoma, testicular and prostate cancers, and the TSPY gene. American Journal of Human Genetics. 1999;64(4):921–927
- The Y-encoded TSPY protein: a significant marker potentially plays a role in the pathogenesis of testicular germ cell tumors. Human Pathology. 2007 Oct;38(10):1470–1481
- . Expression pattern of a gonadoblastoma candidate gene suggests a role of the Y chromosome in prostate cancer. Cytogenetic and Genome Research. 2003;101(3–4):250–260
- Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues. Human Molecular Genetics. 1996;5(11):1801–1807
- Detection of TSPY protein in a unilateral microscopic gonadoblastoma of a Turner mosaic patient with a Y-derived marker chromosome. The Journal of Pathology. 1999;189(4):623–626
- 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. 2004;12(4):345–356
- TSPY potentiates cell proliferation and tumorigenesis by promoting cell cycle progression in HeLa and NIH3T3 cells. BMC Cancer. 2006;6:154
- Role of gain of 12p in germ cell tumour development. APMIS: acta pathologica, microbiologica, et immunologica Scandinavica. 2003;111:161–173
- Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell. 2001;106(3):319–329
- Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. Molecular Reproduction and Development. 2008 Feb 12;
- Clinical and genetic findings of five patients with WT1-related disorders. Arquivos brasileiros de endocrinologia e metabologia. 2008 Nov;52(8):1236–1243
- POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. Cancer Research. 2003;63:2244–2250
- Diagnostic value of OCT3/4 for pre-invasive and invasive testicular germ cell tumours. The Journal of Pathology. 2005 Jun;206(2):242–249
- . Stem cell marker OCT3/4 in tumor biology and germ cell tumor diagnostics: history and future. OCT3/4 in oncogenesis. Critical Reviews in Oncogenesis. 2006;12(3–4):171–203
- OCT4: biological functions and clinical applications as a marker of germ cell neoplasia. The Journal of Pathology. 2007 Jan;211(1):1–9
- Heterogeneous distribution of ITGCNU in an adult testis: consequences for biopsy-based diagnosis. International Journal of Surgical Pathology. 2008 Jan;16(1):21–24
- noninvasive detection of testicular carcinoma in situ in semen using OCT3/4. European Urology. 2008 Jul;54(1):153–160
- Steel factor and c-kit protooncogene: genetic lessons in signal transduction. Critical Reviews in Oncogenesis. 1994;5(2–3):141–168
- 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. 2000 Nov 1;227(1):169–182
- Diagnostic value of markers M2A, OCT3/4, AP-2gamma, PLAP and c-KIT in the detection of extragonadal seminomas. Histopathology. 2006 Sep;49(3):290–297
- KIT and RAS signalling pathways in testicular germ cell tumours: new data and a review of the literature. International Journal of Andrology. 2007 Aug;30(4):337–348discussion 49
- 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. 2005;65:8085–8089
- Stem cell factor receptor (c-KIT) codon 816 mutations predict development of bilateral testicular germ cell tumors. Cancer Research. 2003;63:7674–7678
- 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. 2007 Nov;213(3):311–318
- Ovarian dysgerminomas are characterised by frequent KIT mutations and abundant expression of pluripotency markers. Molecular Cancer. 2007;6:12
- The early in utero oestrogen and testosterone environment of blacks and whites: potential effects on male offspring. British Journal of Cancer. 1988;57(2):216–218
- Pre-natal and peri-natal exposures and risk of testicular germ-cell cancer. International Journal of Cancer. 2000;87(3):438–443
- . Increased incidence of germ cell testicular cancer in New Zealand Maoris. British Journal of Cancer. 1992;65(5):769–771
- 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. 2005 Sep;14(9):2183–2190
- Male reproductive health and environmental xenoestrogens. Environmental Health Perspectives. 1996;104(Suppl. 4):741–803
- Testicular neoplasia in childhood and adolescence. Endocrine Development. 2003;5:110–123
- Identification in rats of a programming window for reproductive tract masculinization, disruption of which leads to hypospadias and cryptorchidism. The Journal of Clinical Investigation. 2008 Apr;118(4):1479–1490
- Testicular development in the complete androgen insensitivity syndrome. The Journal of Pathology. 2006 Mar;208(4):518–527
- Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome. The Journal of Urology. 2008 Oct;180(4):1496–1501
- . The role of a clinical score in the assessment of ambiguous genitalia. BJU International. 2000 Jan;85(1):120–124
PII: S1521-690X(09)00139-0
doi: 10.1016/j.beem.2009.10.002
© 2009 Elsevier Ltd. All rights reserved.
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Best Practice & Research Clinical Endocrinology & Metabolism
Volume 24, Issue 2
, Pages 291-310
, April 2010
