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dc.contributor.authorPillai, Suja
dc.contributor.authorGopalan, Vinod
dc.contributor.authorSmith, Robert A
dc.contributor.authorLam, Alfred K-Y
dc.date.accessioned2017-06-19T00:47:10Z
dc.date.available2017-06-19T00:47:10Z
dc.date.issued2016
dc.identifier.issn1040-8428
dc.identifier.doi10.1016/j.critrevonc.2016.01.022
dc.identifier.urihttp://hdl.handle.net/10072/123704
dc.description.abstractGenetic mutations of phaeochromocytoma (PCC) and paraganglioma (PGL) are mainly classified into two major clusters. Cluster 1 mutations are involved with the pseudo hypoxic pathway and comprised of PHD2, VHL, SDHx, IDH, HIF2A, MDH2 and FH mutated PCC/PGL. Cluster 2 mutations are associated with abnormal activation of kinase signalling pathways and included mutations of RET, NF1, KIF1Bβ, MAX and TMEM127. In addition, VHL, SDHx (cluster 1 genes) and RET, NF1 (cluster 2 genes) germline mutations are involved in the neuronal precursor cell pathway in the pathogeneses of PCC/PGL. Also, GDNF, H-ras, K-ras, GNAS, CDKN2A (p16), p53, BAP1, BRCA1&2, ATRX and KMT2D mutations have roles in the development of PCC/PGLs. Overall, known genetic mutations account for the pathogenesis of approximately 60% of PCC/PGLs. Genetic mutations, pathological parameters and biochemical markers are used for better prediction of the outcome of patients with this group of tumours. Immunohistochemistry and gene sequencing can ensure a more effective detection, prediction of malignant potential and treatment of PCC/PCLs.
dc.description.peerreviewedYes
dc.languageEnglish
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofpagefrom190
dc.relation.ispartofpageto208
dc.relation.ispartofjournalCritical Reviews in Oncology/Hematology
dc.relation.ispartofvolume100
dc.subject.fieldofresearchCardiovascular medicine and haematology
dc.subject.fieldofresearchOncology and carcinogenesis not elsewhere classified
dc.subject.fieldofresearchcode3201
dc.subject.fieldofresearchcode321199
dc.titleUpdates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era
dc.typeJournal article
dc.type.descriptionC1 - Articles
dc.type.codeC - Journal Articles
dcterms.licensehttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.description.versionAccepted Manuscript (AM)
gro.facultyGriffith Health, School of Medicine
gro.rights.copyright© 2016 Elsevier. Licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (http://creativecommons.org/licenses/by-nc-nd/4.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, providing that the work is properly cited.
gro.hasfulltextFull Text
gro.griffith.authorLam, Alfred K.
gro.griffith.authorGopalan, Vinod


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