Molecular testing for the clinical diagnosis of fibrolamellar carcinoma

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dc.contributor.authorGraham, Rondell P.
dc.contributor.authorYeh, Matthew M.
dc.contributor.authorLam-Himlin, Dora
dc.contributor.authorRoberts, Lewis R.
dc.contributor.authorTerracciano, Luigi
dc.contributor.authorCruise, Michael W.
dc.contributor.authorGreipp, Patricia T.
dc.contributor.authorZreik, Riyam T.
dc.contributor.authorJain, Dhanpat
dc.contributor.authorZaid, Nida
dc.contributor.authorSalaria, Safia N.
dc.contributor.authorJin, Long
dc.contributor.authorWang, Xiaoke
dc.contributor.authorRustin, Jeanette G.
dc.contributor.authorKerr, Sarah E.
dc.contributor.authorSukov, William R.
dc.contributor.authorSolomon, David A.
dc.contributor.authorKakar, Sanjay
dc.contributor.authorWaterhouse, Emily
dc.contributor.authorGill, Ryan M.
dc.contributor.authorFerrell, Linda
dc.contributor.authorAlves, Venancio A. F.
dc.contributor.authorNart, Deniz
dc.contributor.authorYilmaz, Funda
dc.contributor.authorRoessler, Stephanie
dc.contributor.authorLongerich, Thomas
dc.contributor.authorSchirmacher, Peter
dc.contributor.authorTorbenson, Michael S.
dc.date.accessioned2019-10-27T10:46:50Z
dc.date.available2019-10-27T10:46:50Z
dc.date.issued2018
dc.departmentEge Üniversitesien_US
dc.description.abstractFibrolamellar carcinoma has a distinctive morphology and immunophenotype, including cytokeratin 7 and CD68 co-expression. Despite the distinct findings, accurate diagnosis of fibrolamellar carcinoma continues to be a challenge. Recently, fibrolamellar carcinomas were found to harbor a characteristic somatic gene fusion, DNAJB1-PRKACA. A break-apart fluorescence in situ hybridization (FISH) assay was designed to detect this fusion event and to examine its diagnostic performance in a large, multicenter, multinational study. Cases initially classified as fibrolamellar carcinoma based on histological features were reviewed from 124 patients. Upon central review, 104 of the 124 cases were classified histologically as typical of fibrolamellar carcinoma, 12 cases as 'possible fibrolamellar carcinoma' and 8 cases as 'unlikely to be fibrolamellar carcinoma'. PRKACA FISH was positive for rearrangement in 102 of 103 (99%) typical fibrolamellar carcinomas, 9 of 12 'possible fibrolamellar carcinomas' and 0 of 8 cases 'unlikely to be fibrolamellar carcinomas'. Within the morphologically typical group of fibrolamellar carcinomas, two tumors with unusual FISH patterns were also identified. Both cases had the fusion gene DNAJB1-PRKACA, but one also had amplification of the fusion gene and one had heterozygous deletion of the normal PRKACA locus. In addition, 88 conventional hepatocellular carcinomas were evaluated with PRKACA FISH and all were negative. These findings demonstrate that FISH for the PRKACA rearrangement is a clinically useful tool to confirm the diagnosis of fibrolamellar carcinoma, with high sensitivity and specificity. A diagnosis of fibrolamellar carcinoma is more accurate when based on morphology plus confirmatory testing than when based on morphology alone.en_US
dc.description.sponsorshipNIDDK NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Diabetes & Digestive & Kidney Diseases (NIDDK) [P30 DK026743]en_US
dc.identifier.doi10.1038/modpathol.2017.103en_US
dc.identifier.endpage149en_US
dc.identifier.issn0893-3952
dc.identifier.issn1530-0285
dc.identifier.issue1en_US
dc.identifier.pmid28862261en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage141en_US
dc.identifier.urihttps://doi.org/10.1038/modpathol.2017.103
dc.identifier.urihttps://hdl.handle.net/11454/31350
dc.identifier.volume31en_US
dc.identifier.wosWOS:000419766500013en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherNature Publishing Groupen_US
dc.relation.ispartofModern Pathologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleMolecular testing for the clinical diagnosis of fibrolamellar carcinomaen_US
dc.typeArticleen_US

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