Abstract：
INTRODUCTION:MEN2A is an autossomal dominant cancer syndrome characterised by the presence of medullary thyroid cancer, pheochromocytoma and primary hyperparathyroidism. Germline mutations of the RET protooncogene constitute the molecular defect and can be identified in affected individuals. Genetic screening of family members at risk allows early diagnosis and preventive measures before the appearance of the disease. We present a family with several members affected with MEN2A, their molecular characterisation and the clinical implications of genetic testing. POPULATION AND METHODS:We studied 18 members distributed among three generations of a family of which four members were clinically affected with MEN2A and cutaneous lichen amyloidosis. RET gene mutations were screened for in affected individuals and their offspring by PCR-RFLP techniques. RESULTS:Genetic testing revealed a point mutation at codon 634 (TGC>TGG), in the heterozygous state, in all affected individuals. The same mutation was also found in a five years old asymptomatic child which after total thyroidectomy showed to have multifocal medullary thyroid carcinoma. DISCUSSION:Genetic screening is the most suitable method for pre-symptomatic diagnosis of MEN2A allowing an efficient and early identification of individuals who will later develop the disease. These can be monitored more closely and be submitted to a prophylactic thyroidectomy before the appearance of medullary thyroid carcinoma. The ideal moment for this intervention is still under discussion although the results of this study suggest that it should be undertaken before the age of five.
journal_name
Acta Med Portjournal_title
Acta medica portuguesaauthors
Lemos MC,Carrilho F,Rodrigues FJ,Cavalheiro M,Regateiro FJ,Ruas MMsubject
Has Abstractpub_date
2003-07-01 00:00:00pages
245-50issue
4eissn
0870-399Xissn
1646-0758journal_volume
16pub_type
杂志文章abstract：:In this review of cochlear otosclerosis 14 cases were studied by CT scan aiming to establish a densitometric pattern of the capsular foci and relating it to the hearing and vestibule dysfunctions. Severe demineralization with characteristics of probable activity (increased lucency of 30-40%) was demonstrated in the ca...
journal_title：Acta medica portuguesa
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更新日期：1994-09-01 00:00:00
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doi：
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doi：
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