Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre.Surgery 2007;141(1):90-5.

BACKGROUND: Evidence that germline mutations in the RET proto-oncogene are the underlying cause of the familial form of medullary thyroid carcinoma (MTC) made it possible to identify gene carriers with a very high degree of accuracy. Aiming to define the mutational profile observed in our patients and to assess gene carriers' compliance with an early surgery, we reviewed results of molecular analysis of RET performed at our institution since 1994. METHODS: One hundred fifty-eight individuals were screened for germline mutations of the RET proto-oncogene. Seventy-seven patients had apparently sporadic MTC; 8 patients had both MTC and pheochromocytoma or MTC and clinical features of multiple endocrine neoplasia type 2B despite a negative family history; 8 patients were known to belong to affected kindreds; and 65 individuals were at-risk individuals to develop MTC. RESULTS: A germline mutation in RET was identified in 4% of apparently sporadic MTC patients, in 100% of patients with MTC and pheochromocytoma or MTC and clinical features of multiple endocrine neoplasia type 2B, and in 100% of probands of clinically established kindreds. The most affected codon was 634 (58%) followed by codon 804 (16%). Among at-risk individuals, 49% were identified as gene carriers. Seven individuals were submitted to prophylactic thyroidectomy (mean age, 17.7 +/- 12.5 years; range: 3-42 years), and all but 1 had MTC. CONCLUSIONS: RET mutational spectrum observed in the present population disclosed a higher frequency of codon 804 mutations than expected. Compliance with an early prophylactic surgery seemed to be influenced not only by medical advice and cultural factors but also by the aggressiveness of disease in gene carriers' families.

Expression of iodine metabolism genes in human thyroid tissues: evidence for age and BRAFV600E mutation dependency.Clinical endocrinology 2009;70(

2009: Espadinha Carla; Santos Jorge Rosa; Sobrinho Luís G; Bugalho Maria CONTEXT: Children present a higher susceptibility to developing thyroid cancer after radioiodine exposure and also a higher frequency of functional metastases than adults. OBJECTIVE: To assess the mRNA expression of the sodium/iodide (Na(+)/I(-)) symporter (NIS), the Pendred syndrome gene (PDS), thyroperoxidase (TPO), thyroglobulin (Tg) and TSH receptor (TSH-R) in normal thyroid tissues (NTTs) and papillary thyroid carcinomas (PTCs) among different age groups. METHODS: Analysis included 59 samples: 21 NTTs and 38 PTCs, of which 21 were the classic type (CPTC) and 17 the follicular variant (FVPTC). Patients were divided into three age groups: I (n = 16) 5-21 years, II (n = 13) 22-59 years, and III (n = 10) 60-91 years. The relative mRNA expression of the five target genes was determinate by quantitative reverse transcription polymerase chain reaction (QRT-PCR). RESULTS: Expression of all genes was significantly higher in NTTs than in PTCs, and it was not age dependent in the NTT group. Among PTCs, the mean expression of PDS, TPO and TSH-R was significantly lower in group II than in group I. PDS, TPO and Tg expression was significantly lower in classic PTCs than in FVPTCs. The difference was related to a higher frequency of the BRAF(V600E) mutation in the former group. CONCLUSIONS: The finding of higher PDS, TPO and TSH-R mRNA expression in paediatric vs. adult primary tumour tissues supports the hypothesis that this might contribute to the increased functional activity of metastases in the paediatric group. The finding that mRNA expression of the target genes in NTT was not age dependent does not provide an explanation for the higher susceptibility in the paediatric group.

VI CURSO TEÓRICO E PRÁTICO DE CIRURGIA DA TIROIDEIA

Realiza-se em 19 e 20 de Novembro de 2009 no IPOLFG - EPE o VI Curso Teórico e Prático de Oncologia Tiroideia, organizado pelo Serviço de Cirurgia de Cabeça Pescoço desta Instituição.
Este curso contará com a colaboração institucional dos diferentes Serviços envolvidos multidisciplinarmente no diagnóstico, tratamento e seguimento dos tumores da tiroideia.
Serão abordados o carcinomas de origem folicular e os tumores com origem parafolicular, sendo focados todas os capítulos da doença oncologica, desde a epidemiologia até ao tratamento e "follow-up".
Durante a parte da manhã serão transmitidas em directo diferentes intervenções cirúrgicas que possam constituir modelos de tratamento cirúrgico dos tumores da tiroideia.
Contamos com a presença de todos aqueles que, trabalhando na área da Saúde ou ainda em fase de formação pre-graduada, pretendam adquirir um maior conhecimento em oncologia da tiroideia, independentemente da sua formação e diferenciação.




Inscrição:
Serviço de Cirurgia de Cabeça e Pescoço do IPOLFG
Secretariado - Maria Helena Reis
Tel: 217 229 800
Fax: 217 248 747
E-mail: ccp@ipolisboa.min-saude.pt

Estudantes de Medicina - Inscrição Gratuita
Médicos - 100,00€

http://www.acs.min-saude.pt/2009/07/23/cursoactualizacaotiroideia

http://www.ipolisboa.min-saude.pt/Default.aspx?PageId=70