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dc.contributor.author
Bausch, Birke
dc.contributor.author
Wellner, Ulrich
dc.contributor.author
Bausch, Dirk
dc.contributor.author
Schiavi, Francesca
dc.contributor.author
Barontini, Marta Beatriz
dc.contributor.author
Sanso, Elsa Gabriela
dc.contributor.author
Walz, Martin K.
dc.contributor.author
Peczkowska, Mariola
dc.contributor.author
Weryha, Georges
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Dall’Igna, Patrizia
dc.contributor.author
Cecchetto, Giovanni
dc.contributor.author
Bisogno, Gianni
dc.contributor.author
Moeller, Lars C.
dc.contributor.author
Bockenhauer, Detlef
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Patocs, Attila
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Rácz, Karoly
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Zabolotnyi, Dmitry
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Yaremchuk, Svetlana
dc.contributor.author
Dzivite Krisane, Iveta
dc.contributor.author
Castinetti, Frederic
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Taieb, David
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Malinoc, Angelica
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von Dobschuetz, Ernst
dc.contributor.author
Roessler, Jochen
dc.contributor.author
Schmid, Kurt W.
dc.contributor.author
Opocher, Giuseppe
dc.contributor.author
Eng, Charis
dc.contributor.author
Neumann, Hartmut P. H.
dc.date.available
2017-01-10T18:02:11Z
dc.date.issued
2014-01
dc.identifier.citation
Bausch, Birke; Wellner, Ulrich; Bausch, Dirk; Schiavi, Francesca; Barontini, Marta Beatriz; et al.; Long-term prognosis of patients with pediatric pheochromocytoma; Bioscientifica; Endocrine - Related Cancer; 21; 1-2014; 17-25
dc.identifier.issn
1351-0088
dc.identifier.uri
http://hdl.handle.net/11336/11030
dc.description.abstract
A third of patients with paraganglial tumors, pheochromocytoma, and paraganglioma, carry germline mutations in one of the susceptibility genes, RET, VHL, NF1, SDHAF2, SDHA, SDHB, SDHC, SDHD, TMEM127, and MAX. Despite increasing importance, data for long-term prognosis are scarce in pediatric presentations. The European-American-Pheochromocytoma–Paraganglioma-Registry, with a total of 2001 patients with confirmed paraganglial tumors, was the platform for this study. Molecular genetic and phenotypic classification and assessment of gene-specific long-term outcome with second and/or malignant paraganglial tumors and life expectancy were performed in patients diagnosed at <18 years. Of 177 eligible registrants, 80% had mutations, 49% VHL, 15% SDHB, 10% SDHD, 4% NF1, and one patient each in RET, SDHA, and SDHC. A second primary paraganglial tumor developed in 38% with increasing frequency over time, reaching 50% at 30 years after initial diagnosis. Their prevalence was associated with hereditary disease (P=0.001), particularly in VHL and SDHD mutation carriers (VHL vs others, P=0.001 and SDHD vs others, P=0.042). A total of 16 (9%) patients with hereditary disease had malignant tumors, ten at initial diagnosis and another six during follow-up. The highest prevalence was associated with SDHB (SDHB vs others, P<0.001). Eight patients died (5%), all of whom had germline mutations. Mean life expectancy was 62 years with hereditary disease. Hereditary disease and the underlying germline mutation define the long-term prognosis of pediatric patients in terms of prevalence and time of second primaries, malignant transformation, and survival. Based on these data, gene-adjusted, specific surveillance guidelines can help effective preventive medicine.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Bioscientifica
dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Pheochromocytoma
dc.subject
Relapse
dc.subject
Long-Term Follow-Up
dc.subject
Germline Mutation
dc.subject.classification
Endocrinología y Metabolismo
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Medicina Clínica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Long-term prognosis of patients with pediatric pheochromocytoma
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2016-11-10T13:52:57Z
dc.journal.volume
21
dc.journal.pagination
17-25
dc.journal.pais
Reino Unido
dc.journal.ciudad
Bristol
dc.description.fil
Fil: Bausch, Birke. University of Freiburg; Alemania
dc.description.fil
Fil: Wellner, Ulrich. University Hospital Schleswig-Holstein; Alemania
dc.description.fil
Fil: Bausch, Dirk. University Hospital Schleswig-Holstein; Alemania
dc.description.fil
Fil: Schiavi, Francesca. Universita Di Padova; Italia
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Fil: Barontini, Marta Beatriz. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Sanso, Elsa Gabriela. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
dc.description.fil
Fil: Walz, Martin K.. Center of Minimally Invasive Surgery; Alemania
dc.description.fil
Fil: Peczkowska, Mariola. Institute of Cardiology; Polonia
dc.description.fil
Fil: Weryha, Georges. University of Lorraine; Francia
dc.description.fil
Fil: Dall’Igna, Patrizia. University Hospital of Padova; Italia
dc.description.fil
Fil: Cecchetto, Giovanni. University Hospital of Padova; Italia
dc.description.fil
Fil: Bisogno, Gianni. University Hospital of Padova; Italia
dc.description.fil
Fil: Moeller, Lars C.. University of Duisburg and Essen; Alemania
dc.description.fil
Fil: Bockenhauer, Detlef. Hospital Great Ormond Street; Reino Unido
dc.description.fil
Fil: Patocs, Attila. Semmelweis University; Hungría
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Fil: Rácz, Karoly. Semmelweis University; Hungría
dc.description.fil
Fil: Zabolotnyi, Dmitry. NAMS of Ukraine; Ucrania
dc.description.fil
Fil: Yaremchuk, Svetlana. NAMS of Ukraine; Ucrania
dc.description.fil
Fil: Dzivite Krisane, Iveta. University of Riga; Letonia
dc.description.fil
Fil: Castinetti, Frederic. Aix-Marseille University; Francia
dc.description.fil
Fil: Taieb, David. University Hospital Timone; Francia
dc.description.fil
Fil: Malinoc, Angelica. University of Freiburg; Alemania
dc.description.fil
Fil: von Dobschuetz, Ernst. University of Freiburg; Alemania
dc.description.fil
Fil: Roessler, Jochen. University of Freiburg; Alemania
dc.description.fil
Fil: Schmid, Kurt W.. University of Duisburg and Essen; Alemania
dc.description.fil
Fil: Opocher, Giuseppe. Universita Di Padova; Italia
dc.description.fil
Fil: Eng, Charis. Cleveland Clinic; Estados Unidos
dc.description.fil
Fil: Neumann, Hartmut P. H.. University of Freiburg; Alemania
dc.journal.title
Endocrine - Related Cancer
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://erc.endocrinology-journals.org/content/21/1/17.full
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1530/ERC-13-0415


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