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dc.contributor.authorFussey, JM
dc.contributor.authorVaidya, B
dc.contributor.authorKim, D
dc.contributor.authorClark, J
dc.contributor.authorEllard, S
dc.contributor.authorSmith, JA
dc.date.accessioned2020-09-08T12:48:34Z
dc.date.issued2019-07-13
dc.description.abstractBackground: The significant variation in the clinical behaviour of sporadic medullary thyroid carcinoma (sMTC) causes uncertainty when planning the management of these patients. Several tumour genetic and epigenetic markers have been described, but their clinical usefulness remains unclear. The aim of this review was to evaluate the evidence for the use of molecular genetic and epigenetic profiles in the risk stratification and management of sMTC. Methods: MEDLINE and Embase databases were searched using the MeSH terms “medullary carcinoma”, “epigenetics”, “molecular genetics”, “microRNAs”; and free text terms “medullary carcinoma”, “sporadic medullary thyroid cancer”, “sMTC”, “RET”, “RAS” and “miR”. Articles containing less than ten subjects, not focussing on sMTC, or not reporting clinical outcomes were excluded. Risk of bias was assessed using a modified version of the Newcastle-Ottawa Scale. Results: Twenty-three studies met the inclusion criteria, and key findings were summarized in themes according to the genetic and epigenetic markers studied. There is good evidence that somatic RET mutations predict higher rates of lymph node metastasis and persistent disease, and worse survival. There are also several good quality studies demonstrating associations between certain epigenetic markers such as tumour miR-183 and miR-375 expression and higher rates of lymph node and distant metastasis, and worse survival. Conclusions: There is a growing body of evidence that tumour genetic and epigenetic profiles can be used to risk stratify patients with sMTC. Further research should focus on the clinical applicability of these findings by investigating the possibility of tailoring management to an individual's tumour mutation profile.en_GB
dc.identifier.citationVol. 91 (6), pp. 697 - 707en_GB
dc.identifier.doi10.1111/cen.14060
dc.identifier.urihttp://hdl.handle.net/10871/122767
dc.language.isoenen_GB
dc.publisherWiley / Society for Endocrinologyen_GB
dc.rights© 2019 John Wiley & Sons Ltden_GB
dc.subjectcarcinomaen_GB
dc.subjectc‐reten_GB
dc.subjectepigenomicsen_GB
dc.subjectgenesen_GB
dc.subjectgeneticsen_GB
dc.subjectmedullaryen_GB
dc.subjectprognosisen_GB
dc.subjectproto‐oncogene proteinsen_GB
dc.subjectrasen_GB
dc.subjectthyroid neoplasmsen_GB
dc.titleThe role of molecular genetics in the clinical management of sporadic medullary thyroid carcinoma: A systematic reviewen_GB
dc.typeArticleen_GB
dc.date.available2020-09-08T12:48:34Z
dc.identifier.issn0300-0664
dc.descriptionThis is the author accepted manuscript. The final version is available from Wiley via the DOI in this recorden_GB
dc.identifier.journalClinical Endocrinologyen_GB
dc.rights.urihttp://www.rioxx.net/licenses/all-rights-reserveden_GB
dcterms.dateAccepted2019-07-10
rioxxterms.versionAMen_GB
rioxxterms.licenseref.startdate2019-07-10
rioxxterms.typeJournal Article/Reviewen_GB
refterms.dateFCD2020-09-08T12:47:07Z
refterms.versionFCDAM
refterms.dateFOA2020-09-08T12:49:34Z
refterms.panelAen_GB


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