MEDULAR THYROID CARCINOMA EXPRESSED BY RARE MUTATION OF RET PROTO-ONCOGENE: CASE REPORT

• Autor(a) principal: Zulchner, Marina Araujo
• Data de Publicação: 2020
• Outros Autores: Teixeira, Thais Baptista, Silva, Isabella Martins, de Oliveira, Ana Letícia Fernandes Coelho, Duarte, Ianne Montes, Flores, Eduardo
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Revista Científica da Faculdade de Medicina de Campos
• Texto Completo: https://www.fmc.br/ojs/index.php/RCFMC/article/view/440
• topic: Tireoide; Carcinoma Medular da Tireoide; Mutação Genética; RET; Thyroid; Medullary Thyroid Carcinoma; Genetic Mutation; RET

INTRODUCTION: Medullary thyroid carcinoma (CMT) is a neoplasia of parafolicular cells. The sporadic form is present in most patients, who manifest somatic mutations in the RET proto-oncogene. The remaining patients may have a germline mutation in this same gene, resulting in 3 types: familial medullary thyroid carcinoma, multiple endocrine neoplasia (MEN), subdivided into subtypes 2A and 2B. The diagnosis is made by Fine Needle Aspiration Puncture and histopathological. OBJECTIVES: To report the case of CMT with a rare mutation in the RET gene and atypical clinical evolution. CASE REPORT: a 71-year-old woman seeks care in 2001, complaining of malaise when swallowing, pain in the neck compression and intestinal constipation. Physical examination shows a palpable, painful thyroid nodule in the left lobe. Mother who died of thyroid tumor without investigation. Ultrasonography was performed, showing a solid 2.1 cm image. Submitted to PAAF, negative for malignancy. CMT was indicated for exploratory cervicotomy to elucidate diagnosis, complete thyroidectomy and lymphatic emptying of the central chain. Negative screening for pathologies associated with MEN 2A and 2B. A positive genetic test was performed for mutation in the RET gene. In 2010, it presents high levels of calcitonin, and cervical re-exploration is indicated, showing lymph node sites of CMT after their excision. Currently being followed up, clinically well. CONCLUSION: As it is a rare pathology, with a reserved prognosis, it is necessary to thoroughly investigate the mutation in the RET protoncogene in the suspicion of CMT, even if there are no other manifestations that may include the patient in the diagnosis of MEN.