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Article: Genetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population

TitleGenetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population
Authors
Keywordsparaganglioma
multiple endocrine neoplasia
succinate dehydrogenase
pheochromocytoma
Issue Date2015
PublisherGeorg Thieme Verlag. The Journal's web site is located at http://www.thieme.de/hmr
Citation
Hormone and Metabolic Research, 2015, v. 47 n. 11, p. 833-838 How to Cite?
Abstract© Georg Thieme Verlag KG Stuttgart New York.Identification of germline mutation in patients with apparently sporadic pheochromocytomas and paragangliomas is crucial. Clinical indicators, which include young age, bilateral or multifocal, extra-adrenal, malignant, or recurrent tumors, predict the likelihood of harboring germline mutation in Caucasian subjects. However, data on the prevalence of germline mutation, as well as the applicability of these clinical indicators in Chinese, are lacking. We conducted a cross-sectional study at a single endocrine tertiary referral center in Hong Kong. Subjects with pheochromocytomas and paragangliomas were evaluated for the presence of germline mutations involving 10 susceptibility genes, which included NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, TMEM 127, MAX, and FH genes. Clinical indicators were assessed for their association with the presence of germline mutations. Germline mutations, 2 being novel, were found in 24.4% of the 41 Chinese subjects recruited and 11.4% among those with apparently sporadic presentation. The increasing number of the afore-mentioned clinical indicators significantly correlated with the likelihood of harboring germline mutation in one of the 10 susceptibility genes. (r=0.757, p=0.026). The presence of 2 or more clinical indicators should prompt genetic testing for germline mutations in Chinese subjects. In conclusion, our study confirmed that a significant proportion of Chinese subjects with apparently sporadic pheochromocytoma and paraganglioma harbored germline mutations and these clinical indicators identified from Caucasians series were also applicable in Chinese subjects. This information will be of clinical relevance in the design of appropriate genetic screening strategies in Chinese populations.
Persistent Identifierhttp://hdl.handle.net/10722/217151
ISSN
2015 Impact Factor: 2.029
2015 SCImago Journal Rankings: 0.846

 

DC FieldValueLanguage
dc.contributor.authorLee, CHP-
dc.contributor.authorCheung, CYY-
dc.contributor.authorChow, WS-
dc.contributor.authorWoo, YC-
dc.contributor.authorYeung, CY-
dc.contributor.authorLang, BHH-
dc.contributor.authorFong, CHY-
dc.contributor.authorKwok, KHM-
dc.contributor.authorChen, SPL-
dc.contributor.authorMak, CM-
dc.contributor.authorTan, KCB-
dc.contributor.authorLam, KSL-
dc.date.accessioned2015-09-18T05:49:45Z-
dc.date.available2015-09-18T05:49:45Z-
dc.date.issued2015-
dc.identifier.citationHormone and Metabolic Research, 2015, v. 47 n. 11, p. 833-838-
dc.identifier.issn0018-5043-
dc.identifier.urihttp://hdl.handle.net/10722/217151-
dc.description.abstract© Georg Thieme Verlag KG Stuttgart New York.Identification of germline mutation in patients with apparently sporadic pheochromocytomas and paragangliomas is crucial. Clinical indicators, which include young age, bilateral or multifocal, extra-adrenal, malignant, or recurrent tumors, predict the likelihood of harboring germline mutation in Caucasian subjects. However, data on the prevalence of germline mutation, as well as the applicability of these clinical indicators in Chinese, are lacking. We conducted a cross-sectional study at a single endocrine tertiary referral center in Hong Kong. Subjects with pheochromocytomas and paragangliomas were evaluated for the presence of germline mutations involving 10 susceptibility genes, which included NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, TMEM 127, MAX, and FH genes. Clinical indicators were assessed for their association with the presence of germline mutations. Germline mutations, 2 being novel, were found in 24.4% of the 41 Chinese subjects recruited and 11.4% among those with apparently sporadic presentation. The increasing number of the afore-mentioned clinical indicators significantly correlated with the likelihood of harboring germline mutation in one of the 10 susceptibility genes. (r=0.757, p=0.026). The presence of 2 or more clinical indicators should prompt genetic testing for germline mutations in Chinese subjects. In conclusion, our study confirmed that a significant proportion of Chinese subjects with apparently sporadic pheochromocytoma and paraganglioma harbored germline mutations and these clinical indicators identified from Caucasians series were also applicable in Chinese subjects. This information will be of clinical relevance in the design of appropriate genetic screening strategies in Chinese populations.-
dc.languageeng-
dc.publisherGeorg Thieme Verlag. The Journal's web site is located at http://www.thieme.de/hmr-
dc.relation.ispartofHormone and Metabolic Research-
dc.rightsHormone and Metabolic Research. Copyright © Georg Thieme Verlag.-
dc.rightsThis work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.-
dc.subjectparaganglioma-
dc.subjectmultiple endocrine neoplasia-
dc.subjectsuccinate dehydrogenase-
dc.subjectpheochromocytoma-
dc.titleGenetics of Apparently Sporadic Pheochromocytoma and Paraganglioma in a Chinese Population-
dc.typeArticle-
dc.identifier.emailLee, CHP: pchlee@hku.hk-
dc.identifier.emailChow, WS: chowws01@hkucc.hku.hk-
dc.identifier.emailWoo, YC: wooyucho@hku.hk-
dc.identifier.emailYeung, CY: ycy167@hku.hk-
dc.identifier.emailLang, BHH: blang@hkucc.hku.hk-
dc.identifier.emailTan, KCB: kcbtan@hku.hk-
dc.identifier.emailLam, KSL: ksllam@hku.hk-
dc.identifier.authorityLee, CHP=rp02043-
dc.identifier.authorityLang, BHH=rp01828-
dc.identifier.authorityTan, KCB=rp00402-
dc.identifier.authorityLam, KSL=rp00343-
dc.description.naturepostprint-
dc.identifier.doi10.1055/s-0035-1555955-
dc.identifier.pmid26267327-
dc.identifier.scopuseid_2-s2.0-84942982385-
dc.identifier.hkuros251447-
dc.identifier.volume47-
dc.identifier.issue11-
dc.identifier.spage833-
dc.identifier.epage838-
dc.publisher.placeGermany-

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