Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy
- Autores
- Chemes, Hector Edgardo; Venara, Marcela Cristina; del Rey, Graciela Monica; Arcari, A. J.; Musse, Mariana Paula; Papazian, R.; Forclaz, V.; Gottlieb, Silvia Elisa
- Año de publicación
- 2014
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. Theadult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germcells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90%ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS andinvasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients:bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations(OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS,bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12?17 and the other at 23 years. Histological dysgenesiswas significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05),which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy(p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive.Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (FisherExact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetaltesticular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression,quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high riskof malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential.
Fil: Chemes, Hector Edgardo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Venara, Marcela Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: del Rey, Graciela Monica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Arcari, A. J.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina
Fil: Musse, Mariana Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina
Fil: Papazian, R.. Hospital Nacional “Prof. Dr. Alejandro Posadas”; Argentina
Fil: Forclaz, V.. Hospital Nacional “Prof. Dr. Alejandro Posadas”; Argentina
Fil: Gottlieb, Silvia Elisa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina - Materia
-
Cis Markers
Disorders of Sex Development
Dsd
Oct 3/4
Ploidy
Prognostic Factors
Testicular Carcinoma in Situ (Cis)
Testicular Dysgenesis
Testicular Germ Cell Tumor (Tgct) - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/8187
Ver los metadatos del registro completo
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Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancyChemes, Hector EdgardoVenara, Marcela Cristinadel Rey, Graciela MonicaArcari, A. J.Musse, Mariana PaulaPapazian, R.Forclaz, V.Gottlieb, Silvia ElisaCis MarkersDisorders of Sex DevelopmentDsdOct 3/4PloidyPrognostic FactorsTesticular Carcinoma in Situ (Cis)Testicular DysgenesisTesticular Germ Cell Tumor (Tgct)https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. Theadult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germcells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90%ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS andinvasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients:bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations(OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS,bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12?17 and the other at 23 years. Histological dysgenesiswas significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05),which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy(p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive.Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (FisherExact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetaltesticular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression,quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high riskof malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential.Fil: Chemes, Hector Edgardo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Venara, Marcela Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: del Rey, Graciela Monica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Arcari, A. J.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; ArgentinaFil: Musse, Mariana Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaFil: Papazian, R.. Hospital Nacional “Prof. Dr. Alejandro Posadas”; ArgentinaFil: Forclaz, V.. Hospital Nacional “Prof. Dr. Alejandro Posadas”; ArgentinaFil: Gottlieb, Silvia Elisa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; ArgentinaWiley2014-09info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/8187Chemes, Hector Edgardo; Venara, Marcela Cristina; del Rey, Graciela Monica; Arcari, A. J.; Musse, Mariana Paula; et al.; Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy; Wiley; Andrology; 3; 1; 9-2014; 59-692047-2919enginfo:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/andr.301/abstractinfo:eu-repo/semantics/altIdentifier/doi/10.1111/andr.301info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:43:40Zoai:ri.conicet.gov.ar:11336/8187instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 09:43:40.786CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
title |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
spellingShingle |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy Chemes, Hector Edgardo Cis Markers Disorders of Sex Development Dsd Oct 3/4 Ploidy Prognostic Factors Testicular Carcinoma in Situ (Cis) Testicular Dysgenesis Testicular Germ Cell Tumor (Tgct) |
title_short |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
title_full |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
title_fullStr |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
title_full_unstemmed |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
title_sort |
Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy |
dc.creator.none.fl_str_mv |
Chemes, Hector Edgardo Venara, Marcela Cristina del Rey, Graciela Monica Arcari, A. J. Musse, Mariana Paula Papazian, R. Forclaz, V. Gottlieb, Silvia Elisa |
author |
Chemes, Hector Edgardo |
author_facet |
Chemes, Hector Edgardo Venara, Marcela Cristina del Rey, Graciela Monica Arcari, A. J. Musse, Mariana Paula Papazian, R. Forclaz, V. Gottlieb, Silvia Elisa |
author_role |
author |
author2 |
Venara, Marcela Cristina del Rey, Graciela Monica Arcari, A. J. Musse, Mariana Paula Papazian, R. Forclaz, V. Gottlieb, Silvia Elisa |
author2_role |
author author author author author author author |
dc.subject.none.fl_str_mv |
Cis Markers Disorders of Sex Development Dsd Oct 3/4 Ploidy Prognostic Factors Testicular Carcinoma in Situ (Cis) Testicular Dysgenesis Testicular Germ Cell Tumor (Tgct) |
topic |
Cis Markers Disorders of Sex Development Dsd Oct 3/4 Ploidy Prognostic Factors Testicular Carcinoma in Situ (Cis) Testicular Dysgenesis Testicular Germ Cell Tumor (Tgct) |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. Theadult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germcells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90%ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS andinvasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients:bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations(OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS,bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12?17 and the other at 23 years. Histological dysgenesiswas significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05),which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy(p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive.Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (FisherExact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetaltesticular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression,quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high riskof malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential. Fil: Chemes, Hector Edgardo. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina Fil: Venara, Marcela Cristina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina Fil: del Rey, Graciela Monica. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina Fil: Arcari, A. J.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina Fil: Musse, Mariana Paula. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina Fil: Papazian, R.. Hospital Nacional “Prof. Dr. Alejandro Posadas”; Argentina Fil: Forclaz, V.. Hospital Nacional “Prof. Dr. Alejandro Posadas”; Argentina Fil: Gottlieb, Silvia Elisa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina |
description |
All malignant testicular germ cell tumors (TGCT) of adult men are preceded by an in situ stage (CIS) of protracted evolution. Theadult CIS is well characterized, but there is debate on the phenotype of infantile CIS, its distinction from delayed maturation of germcells and prognostic potential. A large series of 43 patients with Disorders of Sex Development (DSD) and dysgenetic testes (90%ranging from neonates to 12 years, mean age 4.7 years), was studied by quantifying dysgenetic features, degree of germ cell abnormalities/atypia (GCA), expression of OCT 3/4 (a pluripotency-undifferentiation marker), germ cell ploidy and evolution to CIS andinvasive TGCT. Findings were compared with those of normal testes. The type of gonads present defined three groups of patients:bilateral testes (BT-DSD, n = 21), one testis and one streak gonad (CT-DSD, C for combined, n = 13), and ovarian-testicular combinations(OT-DSD, n = 9). There were 5 boys with infantile CIS, bilateral in 3 (total of 8 infantile CIS) and two patients with adult CIS,bilateral in one (total of 3 adult CIS). Two patients had bilateral seminomas one at 12?17 and the other at 23 years. Histological dysgenesiswas significantly higher in CT-DSD (p < 0.05), that had only 1 CIS. The highest frequency of GCA was in BT-DSD (p < 0.05),which coincided with a total of 11CIS + Seminomas. In all patients, aneuploidy was significantly higher (63%) than diploidy(p < 0.02), and GCA were more frequent in aneuploid than in diploid samples (p < 0.02). All CIS and TGCT were OCT 3/4 positive.Finally, there was a significant association between the triad Aneuploidy + GCA + OCT 3/4 positivity and the incidence of CIS (FisherExact test p < 0.002, relative risk 7.0). The degree of testicular dysgenesis (derived from abnormal organization of Sertoli cells in fetaltesticular cords) is inversely related to the incidence of CIS. Our data demonstrate that the combined use of OCT 3/4 expression,quantification of germ cell abnormalities-atypia and ploidy in dysgenetic testes can satisfactorily identify infantile CIS with high riskof malignant evolution and set it aside from delayed germ cell maturation with lower or nil neoplastic potential. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-09 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/8187 Chemes, Hector Edgardo; Venara, Marcela Cristina; del Rey, Graciela Monica; Arcari, A. J.; Musse, Mariana Paula; et al.; Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy; Wiley; Andrology; 3; 1; 9-2014; 59-69 2047-2919 |
url |
http://hdl.handle.net/11336/8187 |
identifier_str_mv |
Chemes, Hector Edgardo; Venara, Marcela Cristina; del Rey, Graciela Monica; Arcari, A. J.; Musse, Mariana Paula; et al.; Is a CIS phenotype apparent in children with Disorders of Sex Development? Milder testicular dysgenesis is associated with a higher risk of malignancy; Wiley; Andrology; 3; 1; 9-2014; 59-69 2047-2919 |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/http://onlinelibrary.wiley.com/doi/10.1111/andr.301/abstract info:eu-repo/semantics/altIdentifier/doi/10.1111/andr.301 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Wiley |
publisher.none.fl_str_mv |
Wiley |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844613374451646464 |
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13.070432 |