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Carcinoma medular da tiroide : estudo observacional retrospetivo
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O carcinoma medular da tiroide (CMT) é um tumor neuroendócrino que se forma a partir das células parafoliculares, produtoras de calcitonina.
Atualmente, representa 2-5% de todas as neoplasias da tiroide, tratando-se de uma neoplasia rara com difícil diagnóstico tanto a nível clínico como anatomopatológico.
A maioria dos CMT (75%) é esporádica, no entanto, existem formas hereditárias (25%) que fazem parte da síndrome de neoplasia endócrina múltipla (MEN) tipo 2A e 2B, verificando-se nestes doentes uma mutação germinativa do proto-oncogene RET.
A apresentação clínica mais comum é o aparecimento de um nódulo solitário palpável na região cervical, apesar de poder ser assintomático. Podem surgir sintomas compressivos como disfagia, dor, rouquidão ou dispneia e menos frequentemente sintomas sistémicos como diarreia e rubor facial, associados à secreção aumentada de calcitonina, prostaglandinas, serotonina ou Peptídeo Intestinal Vasoativo (VIP).
O diagnóstico e tratamento precoces são essenciais. O gold standard para o diagnóstico é a biópsia aspirativa com agulha fina (BAAF) de um nódulo tiroideu suspeito, juntamente com o doseamento sérico de calcitonina. O teste genético com pesquisa de mutações do gene RET está indicado em todos os doentes.
O tratamento de eleição é a tiroidectomia total com esvaziamento dos compartimentos ganglionares cervicais necessários.
O objetivo deste trabalho é abordar as características clínicas, estratégias diagnósticas e abordagens terapêuticas do CMT, com base na literatura mais recente, assim como fazer uma análise retrospetiva de doentes diagnosticados com esta neoplasia e que foram acompanhados no Instituto Português de Oncologia de Lisboa Francisco Gentil (IPO).
Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor that arises from parafollicular cells, which produces calcitonin. Currently it accounts for 2-5% of all thyroid malignancies, being an extremely rare carcinoma, which represents a great challenge in both clinical and anatomopathological diagnosis. The majority of MTC (75%) is sporadic, however there are hereditary entities (25%), that can be part of multiple endocrine neoplasia (MEN) syndromes, specifically MEN type 2A and 2B, which are associated with RET mutations. Most commonly MTC presents as a solitary thyroid nodule in the cervical region, and it can be asymptomatic. Apart from a palpable mass in the neck, compressive symptoms may include dysphagia, dyspnea, hoarseness or chest pain, and less frequently can be associated with systemic manifestations such as diarrhea and facial flushing related to the increased secretion of calcitonin, prostaglandins, serotonin or vasoactive intestinal peptide (VIP). Early diagnosis and treatment are essential. The gold standard for diagnosis is fine needle aspiration biopsy (FNAB) of a suspicious thyroid nodule, and simultaneously measurement of serum calcitonin. Genetic testing is indicated in all patients to search for RET mutations. The treatment of choice is total thyroidectomy with resection of the necessary lymph node compartments. The objective of this work is to address the clinical characteristics, diagnostic strategies and therapeutic approaches of MTC, based on the most recent literature, as well as to make a retrospective analysis of patients diagnosed with this malignancy and who were followed up at the Portuguese Oncology Institute of Lisbon, Francisco Gentil (IPO).
Medullary thyroid carcinoma (MTC) is a neuroendocrine tumor that arises from parafollicular cells, which produces calcitonin. Currently it accounts for 2-5% of all thyroid malignancies, being an extremely rare carcinoma, which represents a great challenge in both clinical and anatomopathological diagnosis. The majority of MTC (75%) is sporadic, however there are hereditary entities (25%), that can be part of multiple endocrine neoplasia (MEN) syndromes, specifically MEN type 2A and 2B, which are associated with RET mutations. Most commonly MTC presents as a solitary thyroid nodule in the cervical region, and it can be asymptomatic. Apart from a palpable mass in the neck, compressive symptoms may include dysphagia, dyspnea, hoarseness or chest pain, and less frequently can be associated with systemic manifestations such as diarrhea and facial flushing related to the increased secretion of calcitonin, prostaglandins, serotonin or vasoactive intestinal peptide (VIP). Early diagnosis and treatment are essential. The gold standard for diagnosis is fine needle aspiration biopsy (FNAB) of a suspicious thyroid nodule, and simultaneously measurement of serum calcitonin. Genetic testing is indicated in all patients to search for RET mutations. The treatment of choice is total thyroidectomy with resection of the necessary lymph node compartments. The objective of this work is to address the clinical characteristics, diagnostic strategies and therapeutic approaches of MTC, based on the most recent literature, as well as to make a retrospective analysis of patients diagnosed with this malignancy and who were followed up at the Portuguese Oncology Institute of Lisbon, Francisco Gentil (IPO).
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2023
Palavras-chave
Carcinoma medular da tiroide Neoplasia endócrina múltipla tipo 2A Neoplasia endócrina múltipla tipo 2B Calcitonina Proto-oncogene RET