Gonadoblastoma in Turner syndrome and Y-chromosome-derived material

American Journal of Medical Genetics

Volumn 135 A, Issue 2, 2005, Pages 150-154

  Mazzanti, Laura ^a   Cicognani, Alessandro ^a   Baldazzi, Lilia ^a   Bergamaschi, Rosalba ^a   Scarano, Emanuela ^a   Strocchi, Simona ^a   Nicoletti, Annalisa ^a   Mencarelli, Francesca ^a   Pittalis, Mariacarla ^a   Forabosco, Antonino ^b   Cacciari, Emanuele ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

Author keywords

Gonadal dysgenesis; Gonadectomy; Gonadoblastoma; PCR; Ullrich Turner syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CYTOGENETICS; FEMALE; GENETIC SCREENING; GONADECTOMY; GONADOBLASTOMA; HUMAN; KARYOTYPE 45,X; LAPAROSCOPY; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TERATOMA; TURNER SYNDROME; ULRICH TURNER SYNDROME; Y CHROMOSOME; YOLK SAC TUMOR;

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; CENTROMERE; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, Y; FEMALE; GENES, SRY; GENETIC MARKERS; GONADOBLASTOMA; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; LINEAR MODELS; OVARIAN NEOPLASMS; REPETITIVE SEQUENCES, NUCLEIC ACID; TURNER SYNDROME;

EID: 20044363490     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30569     Document Type: Article

References (44)

1. Affara NA, Chalmers IJ, Ferguson-Smith MA. 1993. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Hum Mol Genet 2:785-789.
2. Alvarez-Nava F, Soto M, Sanchez MA, Fernandez E, Lanes R. 2003. Molecular analysis in Turner Sindrome. J Pediatr 142:336-340.
3. Belke MA, Bogan JS, Beer-Romero P, Page DC. 1993. Evidence that the SRY protein is encoded by a single exon on the human Y chromosome. Genomica 17:736-739.
4. Binder G, Koch A, Wajs E, Ranke MB. 1995. Nested polymerase chain reaction study of 53 cases with Turner's syndrome: Is cytogenetically undetected Y mosaicism common? J Clin Endocrinol Metab 80:3532-3536.
5. Goto E, Toral JF, Menéndez MJ, Hernando I, Plasencia A, Benavides A, Lopez-Larrea C. 1995. PCR-based study of the presence of Y chromosome sequences in patients with Ullrich-Turner syndrome. Am J Med Genet 57:393-396.
6. Elsheikh M, Dunger DB, Conway GS, Wass JAH. 2002. Turner's syndrome in adulthood. Endocrine Reviews 23:120-140.
7. Fernández-García R, García-Doval S, Costoya S, Pásaro E. 2000. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: A study of 'hidden' mosaicism. Clin Genet 58:201-208.
8. Gantt PA, Byrd JR, Greenblatt RB, McDonough PG. 1980. A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis. Fertil Steril 34:216-221.
9. Gravholt CH, Juul S, Naeraa RW, Hansen J. 1998. Morbidity in Turner syndrome. J Clin Epidemiol 51:147-158.
10. Gravholt CH, Fedder J, Naeraa RW, Müller J. 2000. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: A population study. J Clin Endocrinol Metab 85:3199-3202.
11. Hasle H, Olsen JH, Nielsen J, Hansen J, Friedrich U, Tommerup N. 1996. Occurrence of cancer in women with Turner syndrome. Br J Cancer 73: 1156-1159.
12. Hook EB, Watburton D. 1983. The distribution of chromosomal genotypes associated with Turner's syndrome: Livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 64:24-27.
13. Iezzoni JC, von Kap-Herr C, Golden WL, Gaffey MJ. 1997. Gonadoblastoma in 45,X/46,XY mosaicism. Analysis of the Y chromosome distribution by Fluorescence In Situ Hybridization. Am J Clin Pathol 108:197-201.
14. Jørgensen N, Muller J, Jaubert F, Clausen OP, Skakkebæk NE. 1997. Heterogeneity of gonadoblastoma germ cells: Similarities with immature germ cells, spermatogonia and testicular carcinoma in situ cells. Histopathology 30:177-186.
15. Kokova M, Siegel SF, Wenger SL, Lee PA, Trucco M. 1993. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet 342:140-143.
16. Lahn BT, Page DC. 1997. Functional coherence of the human Y chromosome. Science 278:675-680.
17. Larsen T, Gravholt CH, Tillebeck A, Larsen H, Jensen MB, Nielsen J, Friedrich U. 1995. Parental origin of the X chromosome, X chromosome mosaicism and screening for 'hidden' Y chromosome in 45,X Turner syndrome ascertained cytogenetically. Clin Genet 48:6-11.
18. Lau YFC, Chou PM, Iezzoni JC, Alonzo JA, Komuves LG. 2001. Expression of a candidate gene for the gonadoblastoma locus in gonadoblastoma and testicular seminoma. Cytogenet Cell Genet 91:160-164.
19. Livadas S, Mavrou A, Sofocleous C, van Vliet-Costantinidou C, Dracopoulou M, Dacou-Voutetais C. 2003. Gonadoblastoma in a patients with del(9)(p22) and sex reversal: Report of a case and review of the literature. Cancer Genet Cytogenet 143:174-177.
20. Lopez M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Méndez J, Kofman-Alfaro S. 1998. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome. Am J Med Genet 76: 120-124.
21. Magenis RE, Breg WR, Clark KA, Hook EB, Palmer CG, Summitt RL, Van Dyke D. 1980. Distribution of sex chromosome complements in 651 patients with Turner's syndrome. Am J Hum Genet 32:79A.
22. Manuel M, Katayama KP, Jones HWJ. 1976. The age of occurrence of gonadal tumors in intersex patients with a Y chromosome. Am J Obstet Gynecol 124:293-300.
23. Mazzanti L, Nizzoli G, Tassinari D, Bergamaschi R, Magnani C, Chiumello G, Cacciari E. 1994. Spontaneous growth and pubertal development in Turner's syndrome with different karyotypes. Acta Paediatr 83:299-304.
24. Mazzanti L, Cacciari E, Bergamaschi R, Tassinari D, Magnani C, Perri A, Scarano E, Pluchinotta V. 1997. Pelvic ultrasonography in patients with Turner syndrome: Age-related findings in different karyotypes. J Pediatr 131:135-140.
25. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C. 1992. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome. J Clin Endocrinol Metab 75:1289-1292.
26. Mendes JRT, Strufaldi MWL, Decelo R, Moisés RCMS, Vieira JG, Kasamatsu TS, Galera MF, Andrade JAD, Verreschi ITN. 1999. Y-chromosome identification by PCR and gonadal hystopathology in Turner's syndrome without overt Y-mosaicism. Clin Endocrinol 50: 19-26.
27. Naeraa RW, Gravholt CH, Hansen J, Nielsen J, Juul S. 1995. Mortality in Turner syndrome. In: Albertsson-Wikland KA, Ranke MB, editors. Turner Syndrome in a life span perspective: Research and clinical aspects. Amsterdam: Elsevier. pp. 323.
28. Nishi MY, Domenice S, Medeiros MA, Mendonca BB, Billerbeck AEC. 2002. Detection of Y-specific sequences in 122 patients with Turner syndrome: Nested PCR is not a reliable method. Am J Med Genet 107:299-305.
29. Osipova GR, Karmanov ME, Kozlova SI, Evgrafov OV. 1998. PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: Clinical implications and limitations. Am J Med Genet 76:283-287.
30. Page DC. 1987. Hypothesis: A Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development 101(Suppl):151-155.
31. Page DC. 1994. Y chromosome sequences in Turner syndrome and risk of gonadoblastoma or virilization. Lancet 343:240.
32. Patsalis PC, Hadjimarcou MI, Velissariou V, Kitsiuo-Tzeli S, Zera C, Syrrou M, Lyberatou E, Tsezou A, Galla A, Skordis N. 1997. Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. Clin Genet 51:184-190.
33. Price WH, Clayton JF, Collyer S, De Mey R, Wilson J. 1986. Mortality ratios, life expectancy, and causes of death in patients with Turner's syndrome. J Epidemiol Commun Health 40:97-102.
34. Saenger P, Albertsson Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M. 2001. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab 86:3061-3069.
35. Scully RE. 1970. Gonadoblastoma. A review of 74 cases. Cancer 25:1340-1356.
36. Simpson JL, Photopulos G. 1976. The relationship of neoplasia to disorders of abnormal sexual differentiation. Birth defects: Original Article Series 12:15-50.
37. Skakkebæk NE, Berthelsen JG, Giwercman A, Müller J. 1987. Carcinoma in situ of the testis: Possible origin from gonocytes and precursor of all types of germ cell tumours except spermatocytoma. Int J Androl 10:19-28.
38. Sultana R, Myerson D, Disteche CM. 1995. In situ hybridisation analysis of the Y chromosome in gonadoblastoma. Genes Chromosomes Cancer 13:257-262.
39. Swerdlow AJ, Hermon C, Jacobs PA, Alberman E, Beral V, Daker M, Fordyce A, Youings S. 2001. Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: A cohort study. Ann Hum Genet 65:177-188.
40. Tanner JM. 1962. In: Growth at adolescence. 2nd edn. Oxford: Blackwell Scientific.
41. Tsuchiya K, Reijo R, Page DC, Disteche CM. 1995. Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 57:1400-1407.
42. Verp MS, Simpson JL. 1987. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 25:191-218.
43. Warburton PE, Greig GM, Haaf T, Willard HF. 1991. PCR amplification of chromosome specific alpha satellite DNA: Definition of centromeric STS markers and polymorphic analysis. Genomics 11:325-333.
44. Zhao S, Kato N, Endoh Y, Jin Z, Ajioka Y, Motoyama T. 2000. Ovarian gonadoblastoma with mixed germ cell tumor in a woman with 46,XX karyotype and successful pregnancies. Pathol Int 50:332-335.