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Volumn 11, Issue 3, 2012, Pages 361-367

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation

Author keywords

Frasier syndrome; Gonadoblastoma; Sertoli cell tumor; WT1 gene

Indexed keywords

BLEOMYCIN; CISPLATIN; CYTOSINE; ETOPOSIDE; THYMINE;

EID: 84864860130     PISSN: 11093099     EISSN: None     Source Type: Journal    
DOI: 10.14310/horm.2002.1366     Document Type: Article
Times cited : (8)

References (28)
  • 1
    • 0000786264 scopus 로고
    • Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins
    • Frasier SD, Bashore RA, Mosier HD, 1964 Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr 64: 740-745.
    • (1964) J Pediatr , vol.64 , pp. 740-745
    • Frasier, S.D.1    Bashore, R.A.2    Mosier, H.D.3
  • 2
    • 0023477994 scopus 로고
    • Chronic renal failure and XY gonadal dysgenesis: Frasier syndrome-a commentary on reported cases
    • Moorthy AV, Chesney RW, Lubinsky M, 1987 Chronic renal failure and XY gonadal dysgenesis: Frasier syndrome-a commentary on reported cases. Am J Med Genet 3: 297-302.
    • (1987) Am J Med Genet , vol.3 , pp. 297-302
    • Moorthy, A.V.1    Chesney, R.W.2    Lubinsky, M.3
  • 3
    • 17344364993 scopus 로고    scopus 로고
    • Identification of constitutional WT1 mutations in patients with isolated diffuse mesangial sclerosis and analysis of genotype/phenotype correlations by use of a computerized mutation database
    • Jeanpierre C, Denamur E, Henry I, et al, 1998 Identification of constitutional WT1 mutations in patients with isolated diffuse mesangial sclerosis and analysis of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62: 824-833.
    • (1998) Am J Hum Genet , vol.62 , pp. 824-833
    • Jeanpierre, C.1    Denamur, E.2    Henry, I.3
  • 4
    • 2542462400 scopus 로고    scopus 로고
    • Twenty-four new cases of WT1 germline mutations and review of the literature: Genotype/phenotype correlations for Wilms' tumor development
    • Royer-Pokora B, Beier M, Henzler M, 2004 Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms' tumor development. Am J Med Genet 127A: 249-257.
    • (2004) Am J Med Genet , vol.127 A , pp. 249-257
    • Royer-Pokora, B.1    Beier, M.2    Henzler, M.3
  • 5
    • 0042928409 scopus 로고    scopus 로고
    • WT1 gene mutation responsible for male sex reversal and renal failure: The Frasier syndrome
    • Saylam K, Simon P, 2003 WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome. Eur J Obstet Gynecol Reprod Biol 110: 111-113.
    • (2003) Eur J Obstet Gynecol Reprod Biol , vol.110 , pp. 111-113
    • Saylam, K.1    Simon, P.2
  • 6
    • 0035827923 scopus 로고    scopus 로고
    • WT1 proteins: Functions in growth and differentiation
    • Scharnhorst V, van der Eb AJ, Jochemsen AG, 2001 WT1 proteins: functions in growth and differentiation. Gene 273: 141-161.
    • (2001) Gene , vol.273 , pp. 141-161
    • Scharnhorst, V.1    van der Eb, A.J.2    Jochemsen, A.G.3
  • 7
    • 0025605969 scopus 로고
    • Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence
    • Rauscher FJ 3rd, Morris JF, Tournay OE, et al, 1990 Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence. Science 250: 1259-1262.
    • (1990) Science , vol.250 , pp. 1259-1262
    • Rauscher III, F.J.1    Morris, J.F.2    Tournay, O.E.3
  • 8
    • 0027286309 scopus 로고
    • The Wilms' tumor gene product WT1 activates or suppresses transcription through separate functional domains
    • Wang ZY, Qiu QQ, Deuel TF, 1993 The Wilms' tumor gene product WT1 activates or suppresses transcription through separate functional domains. J Biol Chem 268: 9172-9175.
    • (1993) J Biol Chem , vol.268 , pp. 9172-9175
    • Wang, Z.Y.1    Qiu, Q.Q.2    Deuel, T.F.3
  • 9
    • 0025992044 scopus 로고
    • Alternative splicing and genomic structure of the Wilms' tumor gene WT1
    • Haber DA, Sohn RL, Buckler AJ, et al, 1991 Alternative splicing and genomic structure of the Wilms' tumor gene WT1. Proc Nat Acad Sciences USA 88: 9618-9622.
    • (1991) Proc Nat Acad Sciences USA , vol.88 , pp. 9618-9622
    • Haber, D.A.1    Sohn, R.L.2    Buckler, A.J.3
  • 10
    • 16944365351 scopus 로고    scopus 로고
    • Donor splice site mutations in WT1 are responsible for Frasier syndrome
    • Barbaux S, Niaudet P, Gubler MC, et al, 1997 Donor splice site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 17: 467-470.
    • (1997) Nat Genet , vol.17 , pp. 467-470
    • Barbaux, S.1    Niaudet, P.2    Gubler, M.C.3
  • 11
    • 33744779918 scopus 로고    scopus 로고
    • Intersex genetic anomalies with malignant potential
    • Fallat ME & Donahoe PK, 2006 Intersex genetic anomalies with malignant potential Curr Opin Pediatr 18: 305-311.
    • (2006) Curr Opin Pediatr , vol.18 , pp. 305-311
    • Fallat, M.E.1    Donahoe, P.K.2
  • 12
    • 82655182068 scopus 로고    scopus 로고
    • Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene
    • Epub ahead of print, Apr 16
    • Megremis S, Mitsioni A, Fylaktou I, et al, 2011 Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene. Eur J Pediatr 170:1529-34. Epub ahead of print, Apr 16
    • (2011) Eur J Pediatr , vol.170 , pp. 1529-1534
    • Megremis, S.1    Mitsioni, A.2    Fylaktou, I.3
  • 13
    • 0031922880 scopus 로고    scopus 로고
    • Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1_/_KTS splice isoforms
    • Klamt B, Koziell A, Poulat F, et al, 1998 Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1_/_KTS splice isoforms. Hum Molec Genet 7: 709-714.
    • (1998) Hum Molec Genet , vol.7 , pp. 709-714
    • Klamt, B.1    Koziell, A.2    Poulat, F.3
  • 14
    • 33745241855 scopus 로고    scopus 로고
    • Frasier syndrome: A rare cause of delayed puberty
    • Chan WK, To KF, But WM, et al, 2006 Frasier syndrome: a rare cause of delayed puberty. Hong Kong Med J 12: 225-227.
    • (2006) Hong Kong Med J , vol.12 , pp. 225-227
    • Chan, W.K.1    To, K.F.2    But, W.M.3
  • 15
    • 0036086228 scopus 로고    scopus 로고
    • An unusual phenotype of Frasier syndrome due to IVS9+4C>T mutation in the WT1 gene: Predominantly male ambiguous genitalia and absence of gonadal dysgenesis
    • Melo KF, Martin RM, Costa EM, 2002 An unusual phenotype of Frasier syndrome due to IVS9+4C>T mutation in the WT1 gene: Predominantly male ambiguous genitalia and absence of gonadal dysgenesis. J Clin Endocrinol & Metabol 87: 2500-2505.
    • (2002) J Clin Endocrinol & Metabol , vol.87 , pp. 2500-2505
    • Melo, K.F.1    Martin, R.M.2    Costa, E.M.3
  • 16
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • Cooper DN and Youssoufian H, 1988 The CpG dinucleotide and human genetic disease. Hum Genet: 78: 151-155.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 17
    • 47749134148 scopus 로고    scopus 로고
    • Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome
    • Schumacher V, Gueler B, Looijenga LH, et al, 2008 Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome. Molec Reprod Devel 75: 1484-1494.
    • (2008) Molec Reprod Devel , vol.75 , pp. 1484-1494
    • Schumacher, V.1    Gueler, B.2    Looijenga, L.H.3
  • 18
    • 0033624770 scopus 로고    scopus 로고
    • WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis
    • Denamur E, Bocquet N, Baudouin V, et al, 2000 WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis. Nat Kidney Int 57: 1868-1872.
    • (2000) Nat Kidney Int , vol.57 , pp. 1868-1872
    • Denamur, E.1    Bocquet, N.2    Baudouin, V.3
  • 19
    • 58149394124 scopus 로고    scopus 로고
    • Manage ment of Wilms tumors in Drash and Frasier syndromes
    • Auber F, Jeanpierre C, Denamur E, et al, 2009 Manage ment of Wilms tumors in Drash and Frasier syndromes. Pediatr Blood & Cancer 52: 55-59.
    • (2009) Pediatr Blood & Cancer , vol.52 , pp. 55-59
    • Auber, F.1    Jeanpierre, C.2    Denamur, E.3
  • 20
    • 0032763264 scopus 로고    scopus 로고
    • Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
    • Kohsaka T, Tagawa M, Takekoshi Y, et al, 1999 Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. Hum Mut 14: 466-470.
    • (1999) Hum Mut , vol.14 , pp. 466-470
    • Kohsaka, T.1    Tagawa, M.2    Takekoshi, Y.3
  • 21
    • 0344629381 scopus 로고    scopus 로고
    • 46, XY phenotypic male with focal segmental glomerulosclerosis caused by theWT1 splice site mutation
    • Tajima T, Sasaki S, Tanaka Y, et al, 2003 46, XY phenotypic male with focal segmental glomerulosclerosis caused by theWT1 splice site mutation. Horm Res Pediatr 60: 302-305.
    • (2003) Horm Res Pediatr , vol.60 , pp. 302-305
    • Tajima, T.1    Sasaki, S.2    Tanaka, Y.3
  • 22
    • 68549094429 scopus 로고    scopus 로고
    • Management of the contralateral testicle in patients with unilateral testicular cancer
    • Lee EK, Holzbeierlein JM, 2009 Management of the contralateral testicle in patients with unilateral testicular cancer. World J Urol 27: 421-426.
    • (2009) World J Urol , vol.27 , pp. 421-426
    • Lee, E.K.1    Holzbeierlein, J.M.2
  • 24
    • 0034062236 scopus 로고    scopus 로고
    • Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
    • Koziel A, Charmandari E, Hindmarsh PC, et al, 2000 Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy? Clin Endocrinol 52: 519-524.
    • (2000) Clin Endocrinol , vol.52 , pp. 519-524
    • Koziel, A.1    Charmandari, E.2    Hindmarsh, P.C.3
  • 25
    • 77957835977 scopus 로고    scopus 로고
    • Sertoli cell tumor, a rare testicular tumor, our experience and review of the literature
    • Gomez-García I, Romero Molina M, López-García Moreno A, et al, 2010 Sertoli cell tumor, a rare testicular tumor, our experience and review of the literature. Arch Espanol Urol 63: 392-395.
    • (2010) Arch Espanol Urol , vol.63 , pp. 392-395
    • Gomez-García, I.1    Romero Molina, M.2    López-García Moreno, A.3
  • 26
    • 0032835981 scopus 로고    scopus 로고
    • Frasier and Denys-Drash syndromes: Different disorders or part of a spectrum
    • Koziell AB & Grundy R, 1999 Frasier and Denys-Drash syndromes: different disorders or part of a spectrum. Arch Dis Childhood 81: 365-369.
    • (1999) Arch Dis Childhood , vol.81 , pp. 365-369
    • Koziell, A.B.1    Grundy, R.2
  • 27
    • 0032913826 scopus 로고    scopus 로고
    • The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor
    • Barbosa AS, Hadjiathanasiou CG, Theodoridis C, et al, 1999 The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. Hum Mut 13: 146-153.
    • (1999) Hum Mut , vol.13 , pp. 146-153
    • Barbosa, A.S.1    Hadjiathanasiou, C.G.2    Theodoridis, C.3
  • 28
    • 77957315050 scopus 로고    scopus 로고
    • Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations
    • Members of the GPN Study Group
    • Chernin G, Vega-Warner V, Schoeb DS, et al, Members of the GPN Study Group, 2010 Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations. Clin J Am Soc Nephrol 5: 1655-1662.
    • (2010) Clin J Am Soc Nephrol , vol.5 , pp. 1655-1662
    • Chernin, G.1    Vega-Warner, V.2    Schoeb, D.S.3


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