New Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutations

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorFAGUNDES, Gustavo F. C.
dc.contributor.authorPETENUCI, Janaina
dc.contributor.authorJR, Delmar M. Lourenco
dc.contributor.authorTRARBACH, Ericka B.
dc.contributor.authorPEREIRA, Maria Adelaide A.
dc.contributor.authorD'EUR, Joya Emilie Correa
dc.contributor.authorHOFF, Ana O.
dc.contributor.authorLERARIO, Antonio M.
dc.contributor.authorZERBINI, Maria Claudia N.
dc.contributor.authorSIQUEIRA, Sheila
dc.contributor.authorYAMAUCHI, Fernando
dc.contributor.authorSROUGI, Victor
dc.contributor.authorTANNO, Fabio Y.
dc.contributor.authorCHAMBO, Jose Luis
dc.contributor.authorLATRONICO, Ana Claudia
dc.contributor.authorMENDONCA, Berenice B.
dc.contributor.authorV, Maria Candida B. Fragoso
dc.contributor.authorALMEIDA, Madson Q.
dc.date.accessioned2019-11-06T18:50:11Z
dc.date.available2019-11-06T18:50:11Z
dc.date.issued2019
dc.description.abstractContext: Von Hippel-Lindau (VHL) disease is an autosomal dominant syndrome caused by germline mutations in the VHL gene. Guidelines recommend pheochromocytoma (PHEO) biochemical screening should start at age 5 years. Objective: Genotype-phenotype correlations in VHL, focusing on PHEO penetrance in children, were studied. Design: We retrospectively evaluated 31 individuals (median age at diagnosis was 26 years) with diagnosed VHL disease. Results: PHEO was diagnosed in six children with VHL. A large PHEO (5 cm) was detected in a 4-yearold boy with p.Gly114Ser mutation. PHEO penetrance was 55% starting at age 4 years. VHL missense mutations were identified in 11 of 22 families (50%), frameshift mutations in four (18.2%), stop codon in three (13.6%), splicing site in two (9.1%), and large gene deletion in two (9.1%). The codon 167 (n = 10) was a hotspot for VHL mutations and was significantly associated with PHEO (90% vs. 38%; P = 0.007). PHEOs and pancreatic neuroendocrine tumors (PNETs) were strongly associated with VHL missense mutations compared with other mutations (89.5% vs. 0% and 73.7% vs. 16.7%; P = 0.0001 and 0.002, respectively). In contrast, pancreatic cysts (91.7% vs. 26.3%; P = 0.0001), renal cysts (66.7% vs. 26.3%; P = 0.027), and central nervous system hemangioblastomas (91.7% vs. 47.3%; P = 0.012) were more frequent in VHL with nonmissense mutations. Conclusion: VHL missense mutations were highly associated with PHEO and PNETs. Our data support that in children with VHL harboring missense mutations, biochemical screening for PHEO should be initiated at diagnosis.eng
dc.description.indexPubMedeng
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao PauloFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2015/17049-8]
dc.description.sponsorshipConselho Nacional de Desenvolvimento Cientifico e TecnologicoNational Council for Scientific and Technological Development (CNPq) [403256/2016-0, 302849/2015, 303002/2016-6]
dc.identifier.citationJOURNAL OF THE ENDOCRINE SOCIETY, v.3, n.9, p.1682-1692, 2019
dc.identifier.doi10.1210/js.2019-00225
dc.identifier.eissn2472-1972
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/34094
dc.language.isoeng
dc.publisherENDOCRINE SOCeng
dc.relation.ispartofJournal of the Endocrine Society
dc.rightsopenAccesseng
dc.rights.holderCopyright ENDOCRINE SOCeng
dc.subjectvon Hippel-Lindaueng
dc.subjectpheochromocytomaeng
dc.subjectpancreatic neuroendocrine tumorseng
dc.subjectsurveillanceeng
dc.subject.othervon-hippel-lindaueng
dc.subject.othertumor-suppressor geneeng
dc.subject.othergermline mutationseng
dc.subject.otherdiseaseeng
dc.subject.otherphenotypeeng
dc.subject.othergenotypeeng
dc.subject.otheridentificationeng
dc.subject.otherparagangliomaeng
dc.subject.wosEndocrinology & Metabolismeng
dc.titleNew Insights Into Pheochromocytoma Surveillance of Young Patients With VHL Missense Mutationseng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.citation.scopus14
hcfmusp.contributor.author-fmusphcGUSTAVO FREITAS CARDOSO FAGUNDES
hcfmusp.contributor.author-fmusphcJANAINA PETENUCI
hcfmusp.contributor.author-fmusphcDELMAR MUNIZ LOURENCO JUNIOR
hcfmusp.contributor.author-fmusphcERICKA BARBOSA TRARBACH
hcfmusp.contributor.author-fmusphcMARIA ADELAIDE ALBERGARIA PEREIRA
hcfmusp.contributor.author-fmusphcJOYA EMILIE DE MENEZES CORREIA
hcfmusp.contributor.author-fmusphcANA AMELIA FIALHO DE OLIVEIRA HOFF
hcfmusp.contributor.author-fmusphcANTONIO MARCONDES LERARIO
hcfmusp.contributor.author-fmusphcMARIA CLAUDIA NOGUEIRA ZERBINI
hcfmusp.contributor.author-fmusphcSHEILA APARECIDA COELHO SIQUEIRA
hcfmusp.contributor.author-fmusphcFERNANDO IDE YAMAUCHI
hcfmusp.contributor.author-fmusphcVICTOR SROUGI
hcfmusp.contributor.author-fmusphcFABIO YOSHIAKI TANNO
hcfmusp.contributor.author-fmusphcJOSE LUIS CHAMBO
hcfmusp.contributor.author-fmusphcANA CLAUDIA LATRONICO XAVIER
hcfmusp.contributor.author-fmusphcBERENICE BILHARINHO DE MENDONCA
hcfmusp.contributor.author-fmusphcMARIA CANDIDA BARISSON VILLARES FRAGOSO
hcfmusp.contributor.author-fmusphcMADSON QUEIROZ DE ALMEIDA
hcfmusp.description.beginpage1682
hcfmusp.description.endpage1692
hcfmusp.description.issue9
hcfmusp.description.volume3
hcfmusp.origemWOS
hcfmusp.origem.pubmed31528828
hcfmusp.origem.scopus2-s2.0-85086575380
hcfmusp.origem.wosWOS:000486639700005
hcfmusp.publisher.cityWASHINGTONeng
hcfmusp.publisher.countryUSAeng
hcfmusp.relation.referenceAbbott MA, 2006, AM J MED GENET A, V140A, P685, DOI 10.1002/ajmg.a.31116eng
hcfmusp.relation.referenceAufforth RD, 2015, J CLIN ENDOCR METAB, V100, P4498, DOI 10.1210/jc.2015-3045eng
hcfmusp.relation.referenceBlansfield JA, 2007, SURGERY, V142, P814, DOI 10.1016/j.surg.2007.09.012eng
hcfmusp.relation.referenceCHEN F, 1995, HUM MUTAT, V5, P66, DOI 10.1002/humu.1380050109eng
hcfmusp.relation.referenceClifford SC, 2001, HUM MOL GENET, V10, P1029, DOI 10.1093/hmg/10.10.1029eng
hcfmusp.relation.referenceCROSSEY PA, 1994, HUM MOL GENET, V3, P1303eng
hcfmusp.relation.referenceDahia PLM, 2014, NAT REV CANCER, V14, P108, DOI 10.1038/nrc3648eng
hcfmusp.relation.referenceDalgliesh GL, 2010, NATURE, V463, P360, DOI 10.1038/nature08672eng
hcfmusp.relation.referenceDe Luca A, 2007, J MED GENET, V44, P800, DOI 10.1136/jmg.2007.053785eng
hcfmusp.relation.referencede Mestier L, 2015, ANN SURG, V262, P384, DOI 10.1097/SLA.0000000000000856eng
hcfmusp.relation.referenceErlic Z, 2010, ENDOCR-RELAT CANCER, V17, P875, DOI 10.1677/ERC-10-0037eng
hcfmusp.relation.referenceGossage L, 2015, NAT REV CANCER, V15, P55, DOI 10.1038/nrc3844eng
hcfmusp.relation.referenceIgarashi H, 2014, J GASTROENTEROL, V49, P511, DOI 10.1007/s00535-013-0794-1eng
hcfmusp.relation.referenceKaelin WG, 2008, NAT REV CANCER, V8, P865, DOI 10.1038/nrc2502eng
hcfmusp.relation.referenceKrauss T, 2018, ENDOCR-RELAT CANCER, V25, P783, DOI 10.1530/ERC-18-0100eng
hcfmusp.relation.referenceKruizinga RC, 2014, ENDOCR-RELAT CANCER, V21, P63, DOI 10.1530/ERC-13-0308eng
hcfmusp.relation.referenceLATIF F, 1993, SCIENCE, V260, P1317, DOI 10.1126/science.8493574eng
hcfmusp.relation.referenceLenders JWM, 2014, J CLIN ENDOCR METAB, V99, P1915, DOI 10.1210/jc.2014-1498eng
hcfmusp.relation.referenceLi MQ, 2011, J CELL MOL MED, V15, P187, DOI 10.1111/j.1582-4934.2010.01238.xeng
hcfmusp.relation.referenceNielsen SM, 2016, J CLIN ONCOL, V34, P2172, DOI 10.1200/JCO.2015.65.6140eng
hcfmusp.relation.referenceNordstrom-O'Brien M, 2010, HUM MUTAT, V31, P521, DOI 10.1002/humu.21219eng
hcfmusp.relation.referencePeng SH, 2017, ONCOTARGET, V8, P38456, DOI 10.18632/oncotarget.16594eng
hcfmusp.relation.referenceRednam SP, 2017, CLIN CANCER RES, V23, pE68, DOI [10.1158/1078-0432.CCR-17-0834, 10.1158/1078-0432.CCR-17-0547]eng
hcfmusp.relation.referenceSovinz P, 2010, AM J MED GENET A, V152A, P1752, DOI 10.1002/ajmg.a.33407eng
hcfmusp.relation.referenceStolle C, 1998, HUM MUTAT, V12, P417, DOI 10.1002/(SICI)1098-1004(1998)12:6<417::AID-HUMU8>3.3.CO;2-Beng
hcfmusp.relation.referenceTirosh A, 2018, JAMA ONCOL, V4, P124, DOI 10.1001/jamaoncol.2017.3428eng
hcfmusp.relation.referenceVikkath N, 2015, FAM CANCER, V14, P585, DOI 10.1007/s10689-015-9806-zeng
hcfmusp.scopus.lastupdate2024-04-12
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