Detection of Y-chromosome in gonadal tumours using fluorescence in situ hybridization: Diagnostic value in intersex conditions including older patients with clinically unsuspected androgen insensitivity syndrome

Histopathology

Volumn 52, Issue 2, 2008, Pages 175-182

  Stewart, C J R ^a   Baker, E ^a,b   Beaton, C ^c   Crook, M ^a   Peverall, J ^a   Wallace, S ^c  

^a KING EDWARD MEMORIAL HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c ST JOHN OF GOD HOSPITAL   (Australia)

Author keywords

Androgen insensitivity syndrome; Fluorescence in situ hybridization; Intersex; Pathology; Tumour

Indexed keywords

ABDOMINAL PAIN; ABDOMINAL SWELLING; ADENOMA; ADULT; AGED; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; CENTROMERE; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DYSGERMINOMA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GONAD TUMOR; HERMAPHRODITISM; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LAPAROTOMY; LEYDIG CELL TUMOR; OVARY TUMOR; PHENOTYPE; PRIORITY JOURNAL; SERTOLI CELL TUMOR; SIGNAL DETECTION; SRY GENE; TUMOR BIOPSY; Y CHROMOSOME;

ADENOMA; ADOLESCENT; ADULT; AGED; ANDROGEN-INSENSITIVITY SYNDROME; BIOPSY; CHROMOSOMES, HUMAN, Y; DYSGERMINOMA; FEMALE; GENES, SRY; GONADOBLASTOMA; HERMAPHRODITISM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; OVARIAN NEOPLASMS; PHENOTYPE; SENSITIVITY AND SPECIFICITY; SERTOLI CELL TUMOR;

EID: 37549067745     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/j.1365-2559.2007.02927.x     Document Type: Article

References (28)

1. Robboy SJ, Jaubert F. Neoplasms and pathology of sexual development disorders (intersex). Pathology 2007 39 147 163.
2. Levin HS. Tumors of the testis in intersex syndromes. Urol. Clin. North Am. 2000 27 543 551.
3. Rutgers JL, Scully RE. The androgen insensitivity syndrome (testicular feminization): a clinicopathologic study of 43 cases. Int. J. Gynecol. Pathol. 1991 10 126 144.
4. Gottlieb B, Pinsky L, Beitel LK, Trifiro M. Androgen insensitivity. Am. J. Med. Genet. 1999 89 210 217.
5. McPhaul MJ, Griffin JE. Male pseudohermaphroditism caused by mutations of the human androgen receptor. J. Clin. Endocrinol. Metab. 1999 84 3435 3441.
6. Hughes I, Deeb A. Androgen resistance. Best Pract. Res. Clin. Endocrinol. Metab. 2006 20 577 598.
7. Lentz SS, Cappellari JO. Postmenopausal diagnosis of testicular feminization. Am. J. Obstet. Gynecol. 1998 179 268 269.
8. Hiort O, Naber SP, Lehners A et al. The role of androgen receptor gene mutations in male breast carcinoma. J. Clin. Endocrinol. Metab. 1996 81 3404 3407.
9. Lobaccaro JM, Lumbroso S, Belon C et al. Male breast cancer and the androgen receptor gene. Nat. Genet. 1993 5 109 110.
10. Wooster R, Mangion J, Eeles R et al. A germline mutation in the androgen receptor in two brothers with breast cancer and Reifenstein syndrome. Nat. Genet. 1992 2 132 134.
11. Berg JS, French SL, McCulloch LB et al. Ethical and legal implications of genetic testing in androgen insensitivity syndrome. J. Pediatr. 2007 150 434 438.
12. Conn J, Gillam L, Conway GS. Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ 2005 331 628 630.
13. Hannema SE, Scott IS, Rajpert-De Meyts E et al. Testicular development in the complete androgen insensitivity syndrome. J. Pathol. 2006 208 518 527.
14. Wysocka B, Serkies K, Debniak J et al. Sertoli cell tumor in androgen insensitivity syndrome - a case report. Gynecol. Oncol. 1999 75 480 483.
15. Fleckenstein GH, Gunawan B, Brinck U et al. Simultaneous Sertoli cell tumor and adenocarcinoma of the tunica vaginalis testis in a patient with testicular feminization. Gynecol. Oncol. 2002 84 460 463.
16. McNeill SA, O'Donnell M, Donat R et al. Estrogen secretion from a malignant sex cord stromal tumor in a patient with complete androgen insensitivity. Am. J. Obstet. Gynecol. 1997 177 1541 1542.
17. O'Dowd J, Gaffney EF, Young RH. Malignant sex cord-stromal tumour in a patient with the androgen insensitivity syndrome. Histopathology 1990 16 279 282.
18. Ramaswamy G, Jagadha V, Tchertkoff V. A testicular tumor resembling the sex cord with annular tubules in a case of the androgen insensitivity syndrome. Cancer 1985 55 1607 1611.
19. Canto P, Kofman-Alfaro S, Jimenez AL et al. Gonadoblastoma in Turner syndrome patients with nonmosaic 45,X karyotype and Y chromosome sequences. Cancer Genet. Cytogenet. 2004 150 70 72.
20. Chemes HE, Muzulin PM, Venara MC et al. Early manifestations of testicular dysgenesis in children: pathological phenotypes, karyotype correlations and precursor stages of tumour development. APMIS 2003 111 12 24.
21. Patsalis PC, Sismani C, Hadjimarcou MI et al. Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients. Clin. Genet. 1998 53 249 257.
22. Queipo G, Zenteno JC, Pena R et al. Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases. Hum. Genet. 2002 111 278 283.
23. 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. J. Pathol. 1999 189 623 626.
24. Iezzoni JC, von Kap-Herr C, Golden WL et al. Gonadoblastomas in 45,X/46,XY mosaicism. Analysis of Y chromosome distribution by fluorescence in situ hybridization. Am. J. Clin. Pathol. 1997 108 197 201.
25. Pena-Alonso R, Nieto K, Alvarez R et al. Distribution of Y-chromosome-bearing cells in gonadoblastoma and dysgenetic testis in 45,X/46,XY infants. Mod. Pathol. 2005 18 439 445.
26. Sultana R, Myerson D, Disteche CM. In situ hybridisation analysis of the Y chromosome in gonadoblastoma. Genes Chromosomes Cancer 1995 13 257 262.
27. Kersemaekers AM, Hoecker F, Stoop H et al. Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum. Pathol. 2006 36 512 521.
28. 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 1999 25 40 45.