Cushing's disease due to somatic USP8 mutations: a systematic review and meta-analysis

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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.authorWANICHI, Ingrid Quevedo
dc.contributor.authorMARIANI, Beatriz Marinho de Paula
dc.contributor.authorFRASSETTO, Fernando Pereira
dc.contributor.authorSIQUEIRA, Sheila Aparecida Coelho
dc.contributor.authorMUSOLINO, Nina Rosa de Castro
dc.contributor.authorCUNHA-NETO, Malebranche Berardo Carneiro
dc.contributor.authorOCHMAN, Gilberto
dc.contributor.authorCESCATO, Valter Angelo Sperling
dc.contributor.authorMACHADO, Marcio Carlos
dc.contributor.authorTRARBACH, Ericka Barbosa
dc.contributor.authorBRONSTEIN, Marcello Delano
dc.contributor.authorFRAGOSO, Maria Candida Barisson Villares
dc.date.accessioned2019-08-20T14:53:05Z
dc.date.available2019-08-20T14:53:05Z
dc.date.issued2019
dc.description.abstractPurposeCushing's disease (CD) is a severe illness generally caused by microcorticotropinomas (MICs) and in approximately 7-20% of patients by macrocorticotropinomas (MACs). USP8-mutations have been identified as a major genetic cause of CD (50%). Few studies have reported the distribution between MICs-MACs related to USP8-mutations and their genotype-phenotype correlations. Therefore, we aimed to evaluate USP8-mutations in a cohort of MICs-MACs from a unique center and to perform a systematic review and meta-analysis.MethodsDNA-tumor-tissues from 47 corticotropinomas (16 MICs and 31 MACs) were sequenced. Clinical-biochemical data, radiological imaging data and remission/recurrence rates were evaluated. In addition, we performed a meta-analysis of nine published series (n=630).ResultsWe identified four different USP8-mutations previously described, in 11 out of 47 (23.4%) corticotropinomas; 8 out of 11 were MACs. The urinary cortisol levels of our patients with corticotrophin USP8-mutated-alleles were lower than those of patients with wild-type (WT) alleles (p <= 0.017). The frequency of USP8-mutated-alleles among the series was approximately 30% with a higher prevalence in female-patients (p<0.1x10(-4)). Among the 5 series, the remission rates were higher in patients with USP8-mutated-alleles than in those with the USP8-WT-alleles (p<0.1x10(-4)).ConclusionOur data, as well as the retrospective review of CD series associated with USP8-mutated alleles, show heterogeneous findings among the series. Several drawbacks included the lack of a systematic protocol to evaluate these patients before surgery and follow-up. Further prospective studies using a systematic protocol will provide more consistent information about the influence of the corticotropinomas with USP8-mutated alleles on the phenotype, responses to treatment and outcome of patients with CD.eng
dc.description.indexMEDLINEeng
dc.description.sponsorshipCoordenacao de Aperfeicoamento de Pessoal de Nivel Superior - Brasil (CAPES) [001]
dc.identifier.citationPITUITARY, v.22, n.4, p.435-442, 2019
dc.identifier.doi10.1007/s11102-019-00973-9
dc.identifier.eissn1573-7403
dc.identifier.issn1386-341X
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/33241
dc.language.isoeng
dc.publisherSPRINGEReng
dc.relation.ispartofPituitary
dc.rightsrestrictedAccesseng
dc.rights.holderCopyright SPRINGEReng
dc.subjectMicrocorticotropinomaseng
dc.subjectMacrocorticotropinomaseng
dc.subjectUbiquitin specific peptidase 8eng
dc.subjectMutationseng
dc.subject.otherpituitary-tumorseng
dc.subject.otheradenomaseng
dc.subject.otherproliferationeng
dc.subject.othermicroadenomaseng
dc.subject.othermortalityeng
dc.subject.othersocietyeng
dc.subject.otheralphaeng
dc.subject.wosEndocrinology & Metabolismeng
dc.titleCushing's disease due to somatic USP8 mutations: a systematic review and meta-analysiseng
dc.typearticleeng
dc.type.categoryrevieweng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.citation.scopus30
hcfmusp.contributor.author-fmusphcINGRID QUEVEDO WANICHI
hcfmusp.contributor.author-fmusphcBEATRIZ MARINHO DE PAULA MARIANI
hcfmusp.contributor.author-fmusphcFERNANDO PEREIRA FRASSETTO
hcfmusp.contributor.author-fmusphcSHEILA APARECIDA COELHO SIQUEIRA
hcfmusp.contributor.author-fmusphcNINA ROSA DE CASTRO MUSOLINO
hcfmusp.contributor.author-fmusphcMALEBRANCHE BERARDO CARNEIRO DA CUNHA NETO
hcfmusp.contributor.author-fmusphcGILBERTO OCHMAN DA SILVA
hcfmusp.contributor.author-fmusphcVALTER ANGELO SPERLING CESCATO
hcfmusp.contributor.author-fmusphcMARCIO CARLOS MACHADO
hcfmusp.contributor.author-fmusphcERICKA BARBOSA TRARBACH
hcfmusp.contributor.author-fmusphcMARCELLO DELANO BRONSTEIN
hcfmusp.contributor.author-fmusphcMARIA CANDIDA BARISSON VILLARES FRAGOSO
hcfmusp.description.beginpage435
hcfmusp.description.endpage442
hcfmusp.description.issue4
hcfmusp.description.volume22
hcfmusp.origemWOS
hcfmusp.origem.pubmed31273566
hcfmusp.origem.scopus2-s2.0-85068828710
hcfmusp.origem.wosWOS:000475566500013
hcfmusp.publisher.cityNEW YORKeng
hcfmusp.publisher.countryUSAeng
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hcfmusp.scopus.lastupdate2024-05-10
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