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Article: Prophylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing

TitleProphylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing
Authors
KeywordsGenetic screening
Multiple endocrine neoplasia type 2a
Proto-oncogene proteins c-ret
Thyroid neoplasms
Thyroidectomy
Issue Date2009
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 2009, v. 15 n. 5, p. 326-331 How to Cite?
AbstractObjective: To evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients. Design: Retrospective study. Setting: University teaching hospital, Hong Kong. Patients: Twenty-two patients from eight multiple endocrine neoplasia 2A families underwent prophylactic total thyroidectomy based on a positive RET mutation genetic testing. All mutations were located at codon 634 of exon 11. Nineteen patients had preoperative basal serum calcitonin measured, and the 12 with normal levels had pentagastrin stimulation tests. Preoperative thyroid ultrasound examination was performed for 17 patients. Results: There were 13 females and 9 males with a median age of 25.1 (range, 6.1-71.9) years. Histopathology revealed medullary thyroid carcinoma in 17 (77%), C-cell hyperplasia in four (18%), and normal pathology in one (5%) of the patients. Five patients with either C-cell hyperplasia or normal pathology were among the youngest (age range, 6-9 years). The youngest patient with medullary thyroid carcinoma was nearly 9 years old. The median size of medullary thyroid carcinomas was 8.3 (range, 0.1-18) mm, but there were no lymph node metastases. Of 15 patients with normal basal calcitonin levels, 10 had medullary thyroid carcinoma, though two tested negative with the pentagastrinstimulated calcitonin assay. Five of six patients with normal preoperative ultrasonographic examinations had medullary thyroid carcinoma. Three (14%) of the patients were prescribed long-term calcium and vitamin D supplementation. After a median follow-up of 49 (range, 13-128) months, no patient had recurrence of medullary thyroid carcinoma. Conclusions: Genetic testing has replaced conventional biochemical and radiological modalities to identifying multiple endocrine neoplasia 2A carriers, in order to offer them prophylactic thyroidectomy. Chinese multiple endocrine neoplasia 2A patients with codon 634 mutation seem to have less aggressive forms of medullary thyroid carcinoma, for whom prophylactic thyroidectomy can be considered at the age of 8 years.
Persistent Identifierhttp://hdl.handle.net/10722/77074
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279
References

 

DC FieldValueLanguage
dc.contributor.authorLau, GSKen_HK
dc.contributor.authorLang, BHHen_HK
dc.contributor.authorLo, CYen_HK
dc.contributor.authorTso, Aen_HK
dc.contributor.authorGarciaBarcelo, MMen_HK
dc.contributor.authorTam, PKen_HK
dc.contributor.authorLam, KSLen_HK
dc.date.accessioned2010-09-06T07:27:59Z-
dc.date.available2010-09-06T07:27:59Z-
dc.date.issued2009en_HK
dc.identifier.citationHong Kong Medical Journal, 2009, v. 15 n. 5, p. 326-331en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77074-
dc.description.abstractObjective: To evaluate the impact of genetic testing in the management of familial multiple endocrine neoplasia 2A patients. Design: Retrospective study. Setting: University teaching hospital, Hong Kong. Patients: Twenty-two patients from eight multiple endocrine neoplasia 2A families underwent prophylactic total thyroidectomy based on a positive RET mutation genetic testing. All mutations were located at codon 634 of exon 11. Nineteen patients had preoperative basal serum calcitonin measured, and the 12 with normal levels had pentagastrin stimulation tests. Preoperative thyroid ultrasound examination was performed for 17 patients. Results: There were 13 females and 9 males with a median age of 25.1 (range, 6.1-71.9) years. Histopathology revealed medullary thyroid carcinoma in 17 (77%), C-cell hyperplasia in four (18%), and normal pathology in one (5%) of the patients. Five patients with either C-cell hyperplasia or normal pathology were among the youngest (age range, 6-9 years). The youngest patient with medullary thyroid carcinoma was nearly 9 years old. The median size of medullary thyroid carcinomas was 8.3 (range, 0.1-18) mm, but there were no lymph node metastases. Of 15 patients with normal basal calcitonin levels, 10 had medullary thyroid carcinoma, though two tested negative with the pentagastrinstimulated calcitonin assay. Five of six patients with normal preoperative ultrasonographic examinations had medullary thyroid carcinoma. Three (14%) of the patients were prescribed long-term calcium and vitamin D supplementation. After a median follow-up of 49 (range, 13-128) months, no patient had recurrence of medullary thyroid carcinoma. Conclusions: Genetic testing has replaced conventional biochemical and radiological modalities to identifying multiple endocrine neoplasia 2A carriers, in order to offer them prophylactic thyroidectomy. Chinese multiple endocrine neoplasia 2A patients with codon 634 mutation seem to have less aggressive forms of medullary thyroid carcinoma, for whom prophylactic thyroidectomy can be considered at the age of 8 years.en_HK
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.rightsHong Kong Medical Journal. Copyright © Hong Kong Medical Association.en_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectGenetic screeningen_HK
dc.subjectMultiple endocrine neoplasia type 2aen_HK
dc.subjectProto-oncogene proteins c-reten_HK
dc.subjectThyroid neoplasmsen_HK
dc.subjectThyroidectomyen_HK
dc.subject.meshCalcitonin - blood-
dc.subject.meshGenetic Testing-
dc.subject.meshMultiple Endocrine Neoplasia Type 2a - genetics - surgery-
dc.subject.meshThyroid Neoplasms - genetics - prevention and control - surgery-
dc.subject.meshThyroidectomy - methods-
dc.titleProphylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testingen_HK
dc.typeArticleen_HK
dc.identifier.emailTso, A: awk.tso@gmail.comen_HK
dc.identifier.emailGarciaBarcelo, MM: mmgarcia@hku.hken_HK
dc.identifier.emailTam, PK: paultam@hku.hken_HK
dc.identifier.emailLam, KSL: ksllam@hku.hken_HK
dc.identifier.authorityTso, A=rp00535en_HK
dc.identifier.authorityGarciaBarcelo, MM=rp00445en_HK
dc.identifier.authorityTam, PK=rp00060en_HK
dc.identifier.authorityLam, KSL=rp00343en_HK
dc.description.naturepublished_or_final_version-
dc.identifier.pmid19801688-
dc.identifier.scopuseid_2-s2.0-70350236903en_HK
dc.identifier.hkuros167942en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-70350236903&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume15en_HK
dc.identifier.issue5en_HK
dc.identifier.spage326en_HK
dc.identifier.epage331en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridLau, GSK=35316055900en_HK
dc.identifier.scopusauthoridLang, BHH=7201907327en_HK
dc.identifier.scopusauthoridLo, CY=16417392800en_HK
dc.identifier.scopusauthoridTso, A=6701371436en_HK
dc.identifier.scopusauthoridGarciaBarcelo, MM=6701767303en_HK
dc.identifier.scopusauthoridTam, PK=7202539421en_HK
dc.identifier.scopusauthoridLam, KSL=8082870600en_HK

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