Prophylactic bilateral salpingo-oopherectomy in a 17-year-old with Frasier syndrome reveals gonadoblastoma and seminoma: a case report

Journal of Pediatric Surgery

Volumn 41, Issue 11, 2006, Pages e1-

  Love, Joseph D ^a   DeMartini, Steven D ^a   Coppola, Christopher P ^a  

^a WILFORD HALL MEDICAL CENTER   (United States)

Author keywords

Dysgenetic gonad; Dysgerminoma; Frasier syndrome; Germ cell tumor; Gonadoblastoma; Seminoma

Indexed keywords

BLEOMYCIN; CISPLATIN; ETOPOSIDE;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CHRONIC KIDNEY FAILURE; DYSGERMINOMA; FEMALE; FRASIER SYNDROME; GENE MUTATION; GENETIC DISORDER; GERM CELL TUMOR; GONADOBLASTOMA; HUMAN; HYPOPLASIA; KARYOTYPE 46,XY; KIDNEY FAILURE; KIDNEY GRAFT; LAPAROSCOPY; NEPHROBLASTOMA; NEPHROTIC SYNDROME; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SALPINGOOOPHORECTOMY; SEMINOMA;

EID: 33750739776     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2006.07.012     Document Type: Article

References (25)

1. MacLaughlin D., and Donahoe P. Sex determination and differentiation. N Engl J Med 350 (2004) 367-379
2. Frasier S., Bashore R., and Mosier H. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 64 (1964) 740-745
3. McTaggart S., Algar E., Chow C., et al. Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol 16 (2001) 335-339
4. Joki-Erkkila M., Karikoski R., Rantala I., et al. Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome. J Pediatr Adolesc Gynecol 15 (2002) 145-149
5. Bonte A., Schroder W., Denamur E., et al. Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. Nephrol Dial Transplant 15 (2000) 1688-1690
6. Hausladen J., Granahan E., and Bockenhauer D. Teenage girl with proteinuria and amenorrhea. Curr Opin Pediatr 13 (2001) 150-153
7. Wang N., Song H., Schanen C., et al. Frasier syndrome comes full circle: genetic studies performed in an original patient. J Pediatr 146 (2005) 843-844
8. Park S., and Jameson J. Minireview: transcriptional regulation of gonadal development and differentiation. Endocrinology 146 (2005) 1035-1042
9. Barbosa A., Hadjiiathanasiou C., Theodoridis C., et al. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome with or without Wilms' tumor. Hum Mutat 13 (1999) 146-153
10. Harber D., Bucker A., Glaser T., et al. An internal deletion within an 11p13 zinc finger gene contributes to the development of Wilms' tumor. Cell 61 (1990) 1257-1269
11. Kikuchi H., Takata A., Akasaka Y., et al. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?. J Med Genet 35 (1998) 45-49
12. Nactigal M., Hirokawa Y., Enyeart-VanHouten D., et al. Wilms' tumor 1 and dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression. Cell 93 (1998) 445-454
13. Wilhelm D., and Englert C. The Wilms' tumor suppressor WT1 regulates early gonad development by activation of Sf1. Genes and Development 16 (2002) 1839-1851
14. Hossain A., and Saunders G. The human sex-determining gene is a direct target of WT1. J Biol Chem 276 (2001) 16817-16823
15. Hammes A., Guo J., Lutsch G., et al. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell 106 (2001) 319-329
16. Barbaux S., Niaudet P., Gubler M., et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nature 17 (1997) 467-470
17. Klamt B., Koziell A., Poulat F., et al. Frasier syndrome is caused by defective alternative splicing of WT1 leading to altered ratio of WT1 +/- KTS splice isoforms. Hum Mol Genet 7 (1998) 709-714
18. Coppes M., Campbell C., and Williams B. The role of WT in Wilms' tumorogenesis. FASEB J 7 (1993) 886-895
19. Little M., and Wells C. A clinical overview of WT1 gene mutations. Hum Mutat 9 (1997) 209-225
20. Volkher S., van der Eb A., and Jochemsen A. WT1 proteins: functions in growth and differentiation. Gene 273 (2001) 141-161
21. Kokiell A., Charmandari E., Hindmarsh P., et al. Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy. Clin Endocrinol 52 (2000) 519-524
22. Hutson J., Hasthorpe S., and Heyns C. Anatomical and functional aspects of testicular descent and cryptorchidism. Endocr Rev 18 (1997) 259-280
23. Cullen J: A phase III study of reduced therapy in the treatment of children with low and intermediate risk extracranial germ cell tumors. Children's Oncology Group protocol # AGCT0132, Activated November 3, 2003
24. Cushing B., Giller R., Cullen J., et al. Randomized comparison of combination chemotherapy with etoposide, bleomycin, and either high-dose or standard-dose cisplatin in children and adolescents with high-risk malignant germ cell tumors: a pediatric intergroup study-Pediatric Oncology Group 9049 and Children's Cancer Group 8882. J Clin Oncol 22 (2004) 2691-2700
25. Rogers P., Olson T., Cullen J., et al. Treatment of children and adolescents with stage II testicular and stages I and II ovarian malignant germ cell tumors: A Pediatric Intergroup Study-Pediatric Oncology Group 9048 and Children's Cancer Group 8891. J Clin Oncol 22 (2004) 3563-3569