Long-term prognosis of patients with pediatric pheochromocytoma

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dc.contributor.authorBausch, Birke
dc.contributor.authorWellner, Ulrich
dc.contributor.authorBausch, Dirk
dc.contributor.authorSchiavi, Francesca
dc.contributor.authorBarontini, Marta
dc.contributor.authorSanso, Gabriela
dc.contributor.authorWalz, Martin K.
dc.contributor.authorPeczkowska, Mariola
dc.contributor.authorWeryha, Georges
dc.contributor.authorDall'Igna, Patrizia
dc.contributor.authorCecchetto, Giovanni
dc.contributor.authorBisogno, Gianni
dc.contributor.authorMoeller, Lars C.
dc.contributor.authorBockenhauer, Detlef
dc.contributor.authorPatocs, Attila
dc.contributor.authorRácz, Karoly
dc.contributor.authorZabolotnyi, Dmitry
dc.contributor.authorYaremchuk, Svetlana
dc.contributor.authorDzīvīte-Krišāne, Iveta
dc.contributor.authorCastinetti, Frederic
dc.contributor.authorTaieb, David
dc.contributor.authorMalinoc, Angelica
dc.contributor.authorVon Dobschuetz, Ernst
dc.contributor.authorRoessler, Jochen
dc.contributor.authorSchmid, Kurt W.
dc.contributor.authorOpocher, Giuseppe
dc.contributor.authorEng, Charis
dc.contributor.authorNeumann, Hartmut P.H.
dc.date.accessioned2021-06-10T07:20:01Z
dc.date.available2021-06-10T07:20:01Z
dc.date.issued2014-02
dc.description.abstractA 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.en
dc.description.statusPeer reviewed
dc.format.extent9
dc.format.extent217512
dc.identifier.citationBausch, B, Wellner, U, Bausch, D, Schiavi, F, Barontini, M, Sanso, G, Walz, M K, Peczkowska, M, Weryha, G, Dall'Igna, P, Cecchetto, G, Bisogno, G, Moeller, L C, Bockenhauer, D, Patocs, A, Rácz, K, Zabolotnyi, D, Yaremchuk, S, Dzīvīte-Krišāne, I, Castinetti, F, Taieb, D, Malinoc, A, Von Dobschuetz, E, Roessler, J, Schmid, K W, Opocher, G, Eng, C & Neumann, H P H 2014, 'Long-term prognosis of patients with pediatric pheochromocytoma', Endocrine-Related Cancer, vol. 21, no. 1, pp. 17-25. https://doi.org/10.1530/ERC-13-0415
dc.identifier.doi10.1530/ERC-13-0415
dc.identifier.issn1351-0088
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/4873
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=84893617173&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofEndocrine-Related Cancer
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGermline mutations
dc.subjectLong-term follow-up
dc.subjectPheochromocytoma
dc.subjectRelapse
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectEndocrinology, Diabetes and Metabolism
dc.subjectOncology
dc.subjectEndocrinology
dc.subjectCancer Research
dc.subjectSDG 3 - Good Health and Well-being
dc.titleLong-term prognosis of patients with pediatric pheochromocytomaen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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