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Chromosome translocations, gene fusions, and their molecular consequences in pleomorphic salivary gland adenomas

2022Journal article Open access
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dc.contributor.authorStenman, Göran
dc.contributor.authorFehr, Andre
dc.contributor.authorSkálová, Alena
dc.contributor.authorVander Poorten, Vincent
dc.contributor.authorHellquist, Henrik
dc.contributor.authorMikkelsen, Lauge Hjorth
dc.contributor.authorSaba, Nabil F.
dc.contributor.authorGuntinas-Lichius, Orlando
dc.contributor.authorChiesa-Estomba, Carlos Miguel
dc.contributor.authorAndersson, Mattias K.
dc.contributor.authorFerlito, Alfio
dc.date.accessioned2023-01-04T14:59:12Z
dc.date.available2023-01-04T14:59:12Z
dc.date.issued2022
dc.description.abstractSalivary gland tumors are a heterogeneous group of tumors originating from the major and minor salivary glands. The pleomorphic adenoma (PA), which is the most common subtype, is a benign lesion showing a remarkable morphologic diversity and that, upon recurrence or malignant transformation, can cause significant clinical problems. Cytogenetic studies of >500 PAs have revealed a complex and recurrent pattern of chromosome rearrangements. In this review, we discuss the specificity and frequency of these rearrangements and their molecular/clinical consequences. The genomic hallmark of PA is translocations with breakpoints in 8q12 and 12q13-15 resulting in gene fusions involving the transcription factor genes PLAG1 and HMGA2. Until recently, the association between these two oncogenic drivers was obscure. Studies of the Silver-Russel syndrome, a growth retardation condition infrequently caused by mutations in IGF2/HMGA2/PLAG1, have provided new clues to the understanding of the molecular pathogenesis of PA. These studies have demonstrated that HMGA2 is an upstream regulator of PLAG1 and that HMGA2 regulates the expression of IGF2 via PLAG1. This provides a novel explanation for the 8q12/12q13-15 aberrations in PA and identifies IGF2 as a major oncogenic driver and therapeutic target in PA. These studies have important diagnostic and therapeutic implications for patients with PA.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.doi10.3390/biomedicines10081970pt_PT
dc.identifier.eissn2227-9059
dc.identifier.urihttp://hdl.handle.net/10400.1/18732
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectPleomorphic adenomapt_PT
dc.subjectChromosome translocationpt_PT
dc.subjectChromosome 8q12pt_PT
dc.subjectChromosome 12q13-15pt_PT
dc.subjectGene fusionpt_PT
dc.subjectPLAG1pt_PT
dc.subjectHMGA2pt_PT
dc.subjectIGF2pt_PT
dc.subjectDiagnostic biomarkerpt_PT
dc.subjectTherapeutic targetpt_PT
dc.titleChromosome translocations, gene fusions, and their molecular consequences in pleomorphic salivary gland adenomaspt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue8pt_PT
oaire.citation.startPage1970pt_PT
oaire.citation.titleBiomedicinespt_PT
oaire.citation.volume10pt_PT
person.familyNameHellquist
person.givenNameHenrik
person.identifier.ciencia-id9C11-221B-93BF
person.identifier.orcid0000-0003-3044-6065
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublicatione632b82a-cf09-4f9a-b445-9d9a9de47438
relation.isAuthorOfPublication.latestForDiscoverye632b82a-cf09-4f9a-b445-9d9a9de47438

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