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1.
Mol Clin Oncol ; 10(5): 524-530, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31007912

RESUMO

Recurrent differentiated thyroid carcinoma can easily be detected by means of ultrasound (US) and thyroglobulin, and often requires further surgical intervention. Revision surgery is often a technical challenge with significant risk of complications, considering the altered anatomy, with a possibility of leaving behind residual neoplasm. Preoperative US-guided tattooing localization has been introduced to reduce and prevent these potential problems during revision surgery. Encouraging results have been reported in the literature. Under US guidance, the lesion is identified and 0.5-2 ml of colloidal charcoal is injected in its proximity using a 23 gauge needle. The extraction is accompanied by injection at constant pressure of charcoal in order to leave a trace of pigment along the path of the needle till the skin. From April 2008 to January 2016 we performed revision surgery in 27 patients for lymph-nodes metastasis in differentiated thyroid cancer, using the technique of preoperative charcoal tattoo localization. Our previous study on the first group of 13 patients published in 2012, reported the preliminary results in terms of success rate and complications. The tolerance of charcoal injection was good for all patients and the procedure was demonstrated to be useful, contributing to the removal of metastatic lesion in 93% of procedures. We have registered minor surgical complications during revision in the central compartment of the neck: Transitory hypoparathyroidism in 2 cases (11%) and transitory vocal cord paresis in 3 cases (16%). Based on these results, preoperative charcoal tattoo localization in revision surgery of the neck for differentiated thyroid cancer recurrence can be considered a safe technique, easy to perform, with low-costs and useful during surgical procedures, providing a significant reduction of iatrogenic damage and risks.

2.
Eur J Endocrinol ; 163(2): 301-8, 2010 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-20516206

RESUMO

OBJECTIVE: Multiple endocrine neoplasia type 2 (MEN 2) is a genetic disease characterized by medullary thyroid carcinoma (MTC) associated (MEN 2A and 2B) or not familial MTC (FMTC) with other endocrine neoplasia due to germline RET gene mutations. The prevalence of these rare genetic diseases and their corresponding RET mutations are unknown due to the small size of the study population. METHODS: We collected data on germline RET mutations of 250 families with hereditary MTC followed in 20 different Italian centres. RESULTS AND CONCLUSIONS: The most frequent RET amino acid substitution was Val804Met (19.6%) followed by Cys634Arg (13.6%). A total of 40 different germline RET mutations were present. Six families (2.4%) were negative for germline RET mutations. The comparison of the prevalence of RET germline mutations in the present study with those published by other European studies showed a higher prevalence of Val804Met and Ser891Ala mutations and a lower prevalence of Leu790Phe and Tyr791Phe (P<0.0001). A statistically significant higher prevalence of mutations affecting non-cysteine codons was also found (P<0.0001). Furthermore, the phenotype data collection showed an unexpected higher prevalence of FMTC (57.6%) with respect to other MEN 2 syndromes (34% MEN 2A and 6.8% of MEN 2B). In conclusion, we observed a statistically significant different pattern of RET mutations in Italian MEN 2 families with respect to other European studies and a higher prevalence of FMTC phenotype. The different ethnic origins of the patients and the particular attention given to analysing apparently sporadic MTC for RET germline mutations may explain these findings.


Assuntos
Mutação em Linhagem Germinativa/genética , Neoplasia Endócrina Múltipla Tipo 2a/genética , Neoplasia Endócrina Múltipla Tipo 2b/genética , Proteínas Proto-Oncogênicas c-ret/genética , Distribuição de Qui-Quadrado , Feminino , Estudos de Associação Genética , Testes Genéticos , Genótipo , Humanos , Itália , Masculino , Linhagem , Fenótipo
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