, Tableau7.Aspectscliniques,histologiques,d'IHCetmoléculairesdes14CCC
, Surlignagevertclair/rouge:concordance/discordancediagnostique,respectivement Surlignageorange:diagnosticinitialindéterminé Pointillés:diagnosticinitialdelésionbénigne RésultatsdelaFISHetdelaLD-RT-PCR-NGSsurlignésenvertfoncéetorangequandpositifsou négatifs gras:particularitésmorphologiquesetsignesd'agressivitéhistologiques +ou++:proportiondecellulesclairesouéosinophilesfaibleouforte VIII)Référencesbibliographiques
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, Les carcinomes des glandes salivaires (GS) sont des tumeurs rares, de diagnostic difficile, souvent associées à des transcrits de fusion (TdF) dont la détection oriente le diagnostic
, parLD-RT-PCR(polymérisationenchaînepartranscriptioninverse,dépendantedelaligation)
, couplée au NGS (séquençage de nouvelle génération) pour détecter les TdF et l'intégrer dans unestratégiediagnostiqueglobaledecescarcinomes. Méthode: EtudierparLD-RT-PCR-NGS53carcinomesdesGSassociésàdesTdFetcomparerlediagnostic
, Hybridation In Situ en Fluorescence) et au diagnostic histologiquedepathologistesexpertsetnonexpertsafind'étudierlesapportsdiagnostiquesde la BM, de l'expertise du REFCORpath (versant anatomopathologique du Réseau d'Expertise Français sur les Cancers ORL Rares) et les critères morphologiques et immunohistochimiques discriminants
Les6casdiscordants(12,5%) correspondaientàuneFISHEWSR1positiveetàuneLD-RT-PCR-NGSnégative.Laconcordance diagnostique entre les pathologistes initiaux et les experts avant BM était de 39,6% pour le diagnostichistologiqueexactetde71,7%pourladistinctionducaractèrebénin/malin,reflétant lechallengediagnostiquequereprésententcestumeurs.Suiteàleuranalysemorphologiqueet immunohistochimique,nousproposonsunpaneldiagnostiquede10anticorps. Conclusion: LaBMestcrucialepourlediagnosticdecarcinomesdesGS,mêmeréaliséparunexpert.LaLD-RT-PCR-NGSpermetungaindetempsetdemoyenparrapportàlaFISHvial'analysesimultanée d'un large panel de gènes, TdF dans 44 cas (83%) et reclassait 6 diagnostics (11,3%). La FISH,ininterprétabledans9,4%descas,reclassait2diagnostics(4,2%) ,
,