The clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891A

Simple item page
dc.contributor.authorSchulte, Klaus-Martin
dc.contributor.authorMachens, Andreas
dc.contributor.authorFugazzola, Laura
dc.contributor.authorMcGregor, Alan
dc.contributor.authorDiaz-Cano, Salvador J.
dc.contributor.authorIzatt, Louise
dc.contributor.authorAylwin, Simon
dc.contributor.authorTalat, N.
dc.contributor.authorBeck-Peccoz, Paolo
dc.contributor.authorDralle, Henning
dc.date.accessioned2022-02-09T23:29:41Z
dc.date.issued2010
dc.date.updated2020-12-13T07:22:31Z
dc.description.abstractBackground: Germline missense mutations of the RET protooncogene cause a clinical spectrum called multiple endocrine neoplasia (MEN) type 2. A strong genotype-phenotype correlation results in major implications for the clinical approach. More information on less common mutations is needed to advance specific guidance. Patients and Methods: We report individualized patient information on 36 carriers of the intracellular RET gene mutation S891A from three centers and clustered data of 38 former patients reported in the literature in nine additional studies. Results: S891A mutation accounts for up to 5% of all patients to date reported with RET mutations and 16% of those hitherto reported with intracellular mutations. S891A mutation caused medullary thyroid cancer (MTC) in 69.4%, pheochromocytoma in 2.8%, and parathyroid hyperplasia in 8.3% of the 36 patients of this case series and in 63.5, 4.1, and 4.1%, respectively, for the entire groups of 74 patients. The youngest age of onset for MTC in this group was 17 yr (median, 46 yr; range, 17-80 yr), for pheochromocytoma 46 yr (median, 46 yr), and for parathyroid hyperplasia 17 yr (median, 20 yr, range, 17-46 yr). Persistence of MTC was described in 14.3% of patients with available follow-up. Additional findings included corneal nerve thickening in three of 74 patients (4.1%). Conclusion: This intracellular mutation can initiate the full spectrum of MEN2a, initiates MTC at an early age, and causes recurrence and death if undertreated. We recommend stringent adherence to established guidance in MEN2a in this rare mutation.en_AU
dc.format.mimetypeapplication/pdfen_AU
dc.identifier.issn0021-972xen_AU
dc.identifier.urihttp://hdl.handle.net/1885/260159
dc.language.isoen_AUen_AU
dc.publisherEndocrine Societyen_AU
dc.rights© 2010 by The Endocrine Societyen_AU
dc.sourceJournal of Clinical Endocrinology and Metabolismen_AU
dc.subjectprotein Reten_AU
dc.subjectalanineen_AU
dc.subjectprotein Reten_AU
dc.subjectRET proteinen_AU
dc.subjecthumanen_AU
dc.subjectserineen_AU
dc.subjectcornea thicknessen_AU
dc.subjectgene mutationen_AU
dc.subjectheterozygoteen_AU
dc.subjectmajor clinical studyen_AU
dc.subjectmaleen_AU
dc.subjectonset ageen_AU
dc.subjectparathyroid hyperplasiaen_AU
dc.titleThe clinical spectrum of multiple endocrine neoplasia type 2a caused by the rare intracellular RET mutation S891Aen_AU
dc.typeJournal articleen_AU
local.bibliographicCitation.issue9en_AU
local.bibliographicCitation.lastpageE97en_AU
local.bibliographicCitation.startpageE92en_AU
local.contributor.affiliationSchulte, Klaus-Martin, College of Health and Medicine, ANUen_AU
local.contributor.affiliationMachens, Andreas, King's Health Partnersen_AU
local.contributor.affiliationFugazzola, Laura, Fondazione Istituto di Rocvero e Cura a Carattere Scientifico Ca' Grandaen_AU
local.contributor.affiliationMcGregor, Alan, Martin-Luther-University of Halleen_AU
local.contributor.affiliationDiaz-Cano, Salvador J., Department of Histopathologyen_AU
local.contributor.affiliationIzatt, Louise, King's Health Partnersen_AU
local.contributor.affiliationAylwin, Simon, Department of Endocrinologyen_AU
local.contributor.affiliationTalat, N., Department of Endocrine Surgery, King’s College Hospital, King’s Health Partnersen_AU
local.contributor.affiliationBeck-Peccoz, Paolo, Fondazione Istituto di Rocvero e Cura a Carattere Scientifico Ca' Grandaen_AU
local.contributor.affiliationDralle, Henning, Martin-Luther-University of Halleen_AU
local.contributor.authoremailu5512280@anu.edu.auen_AU
local.contributor.authoruidSchulte, Klaus-Martin, u5512280en_AU
local.description.embargo2099-12-31
local.description.notesImported from ARIESen_AU
local.identifier.absfor110709 - Tumour Immunologyen_AU
local.identifier.absfor110708 - Transplantation Immunologyen_AU
local.identifier.absfor110323 - Surgeryen_AU
local.identifier.ariespublicationU3488905xPUB8260en_AU
local.identifier.citationvolume95en_AU
local.identifier.doi10.1210/jc.2010-0375en_AU
local.identifier.scopusID2-s2.0-77956571207
local.identifier.thomsonID000281640300016
local.identifier.uidSubmittedByU3488905en_AU
local.publisher.urlhttps://academic.oup.com/jcemen_AU
local.type.statusPublished Versionen_AU

Downloads

Original bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
01_Schulte_The_clinical_spectrum_of_2010.pdf
Size:
133.52 KB
Format:
Adobe Portable Document Format
Download

Collections

ANU Research Publications

DSpace software copyright © 2002-2024 LYRASIS