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Article: Multiple endocrine neoplasia type 2B in a Chinese patient

TitleMultiple endocrine neoplasia type 2B in a Chinese patient
Authors
KeywordsMultiple endocrine neoplasia type 2b
Mutation
Oncogene proteins
Thyroidectomy
Issue Date2004
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2004, v. 10 n. 3, p. 206-209 How to Cite?
AbstractMultiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 918 in exon 16 of the RET proto-oncogene. The mutation was arising de novo as there was no corresponding mutation found in both this parents or younger sister. Data published to date suggest there is no difference in the genetic and pathophysiologic basis, nor clinical characteristics of multiple endocrine neoplasia type 2B in Chinese patients. As the disease can be lethal, early diagnosis by prompt recognition of the characteristic phenotypic features followed by surgical treatment should improve the outcome. Family screening is essential to identify at-risk family members for prophylactic treatment.
Persistent Identifierhttp://hdl.handle.net/10722/45152
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorChang, Aen_HK
dc.contributor.authorChan, WFen_HK
dc.contributor.authorLo, CYen_HK
dc.contributor.authorLam, KSLen_HK
dc.date.accessioned2007-10-30T06:18:27Z-
dc.date.available2007-10-30T06:18:27Z-
dc.date.issued2004en_HK
dc.identifier.citationHong Kong Medical Journal, 2004, v. 10 n. 3, p. 206-209en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45152-
dc.description.abstractMultiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 918 in exon 16 of the RET proto-oncogene. The mutation was arising de novo as there was no corresponding mutation found in both this parents or younger sister. Data published to date suggest there is no difference in the genetic and pathophysiologic basis, nor clinical characteristics of multiple endocrine neoplasia type 2B in Chinese patients. As the disease can be lethal, early diagnosis by prompt recognition of the characteristic phenotypic features followed by surgical treatment should improve the outcome. Family screening is essential to identify at-risk family members for prophylactic treatment.en_HK
dc.format.extent276720 bytes-
dc.format.extent531490 bytes-
dc.format.extent4677 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.-
dc.subjectMultiple endocrine neoplasia type 2ben_HK
dc.subjectMutationen_HK
dc.subjectOncogene proteinsen_HK
dc.subjectThyroidectomyen_HK
dc.subject.meshMultiple Endocrine Neoplasia Type 2b - diagnosis - genetics - surgeryen_HK
dc.subject.meshAsian Continental Ancestry Groupen_HK
dc.subject.meshLymphatic Metastasisen_HK
dc.subject.meshProto-Oncogene Proteins - geneticsen_HK
dc.subject.meshReceptor Protein-Tyrosine Kinases - geneticsen_HK
dc.titleMultiple endocrine neoplasia type 2B in a Chinese patienten_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=10&issue=3&spage=206&epage=209&date=2004&atitle=Multiple+endocrine+neoplasia+type+2B+in+a+Chinese+patienten_HK
dc.identifier.emailLam, KSL:ksllam@hku.hken_HK
dc.identifier.authorityLam, KSL=rp00343en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid15181227-
dc.identifier.scopuseid_2-s2.0-2942752111en_HK
dc.identifier.hkuros88429-
dc.identifier.hkuros98221-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-2942752111&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume10en_HK
dc.identifier.issue3en_HK
dc.identifier.spage206en_HK
dc.identifier.epage209en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridChang, A=7402539614en_HK
dc.identifier.scopusauthoridChan, WF=7403918455en_HK
dc.identifier.scopusauthoridLo, CY=16417392800en_HK
dc.identifier.scopusauthoridLam, KSL=8082870600en_HK

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