Primary hyperparathyroidism is a disease characterized by excessive production of parathyroid hormone (PTH), which is due to a parathyroid adenoma in 85% of cases. An atypical parathyroid adenoma, with some histopathological features of parathyroid carcinoma, may be found in some of the cases, although it may not fulfill all the criteria for this diagnosis. Neurofibromatosis type 1 (NF1) is an autosomal dominant systemic disease that may be associated with hyperparathyroidism. We report here the rare combination of a patient with NF1 and clinical manifestations of hyperparathyroidism due to an atypical parathyroid adenoma.

A neoplasia endócrina múltipla tipo 1 (NEM1) é uma doença hereditária autossômica dominante, caracterizada principalmente por tumores de paratireoide, enteropancreáticos e adeno-hipofisários. Apresentamos o caso de um menino com 8 anos encaminhado por crises de hipoglicemia. Seu diagnóstico foi insulinoma pancreático. Sua avó paterna faleceu por úlceras gastroduodenais de repetição e a tia paterna tinha as mesmas manifestações. Na primeira avaliação, o pai apresentou apenas úlcera gástrica, porém com a evolução desenvolveu hiperparatireoidismo e tumor carcinoide pulmonar. Durante cerca de 15 anos de seguimento, os três irmãos e o caso índice desenvolveram hiperparatireoidismo e hiperprolactinemia. O estudo molecular mostrou a substituição G por A no intron 4, a nove nucleotídeos do sítio aceptor de splicing, criando um novo sítio de splicing. Todos os membros da família afetados e estudados tinham a mesma mutação. A NEM1 é uma condição rara que requer assistência médica permanente. As identificações clínicas e genéticas precoces são essenciais para o tratamento e aconselhamento genético.

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.

OBJETIVO: A tuberculose tiroidiana ocorre raramente. O hipotireoidismo decorrente da destruição tiroidiana é um relato raríssimo. Nosso objetivo foi descrever o caso de paciente com tuberculose tiroidiana primária e ressaltar a raridade e a importância da doença. RELATO DO CASO: Mulher, 62 anos, apresentando massa cervical extensa há quatro meses, associada à inapetência, à perda de peso, à disfonia e à disfagia. A investigação laboratorial mostrou hipotireoidismo primário. Ultrassonografia: lesão expansiva em lobo esquerdo, envolvendo musculatura subjacente. Tomografia computadorizada: massa heterogênea com centro necrótico, 13 cm de diâmetro. Biópsia por agulha fina: material serossanguinolento. Cirurgia: tireoidectomia, dissecção radical à esquerda e traqueostomia protetora. Exame anatomopatológico: processo inflamatório crônico granulomatoso com áreas de necrose caseosa e comprometimento linfonodal. Baciloscopia tiroidiana positiva. Ausência de comprometimento pulmonar. A paciente foi tratada com drogas antituberculosas. CONCLUSÕES: Tuberculose tireoidiana não é frequente, mas deve ser considerada como diagnóstico diferencial de hipotireoidismo e massa cervical anterior.

OBJECTIVE: The involvement of the thyroid by tuberculosis (TB) is rare. Hypothyroidism caused by tissue destruction is an extremely rare report. Our aim was to report a patient with primary thyroid TB emphasizing the importance of diagnosis, despite the rarity of the occurrence. CASE REPORT: Women, 62 years old, showing extensive cervical mass since four months, referring lack of appetite, weight loss, dysphagia and dysphonia. Laboratorial investigation revealed primary hypothyroidism. Cervical ultrasound: expansive lesion in left thyroid lobe, involving adjacent muscle. Computed tomography scan: 13 cm diameter cervical mass with central necrosis. Fine needle biopsy: hemorrhagic material. Surgery: total thyroidectomy, left radical neck dissection and protective tracheotomy. The pathological examination showed chronic granulomatous inflammatory process with areas of caseous necrosis and lymph node involvement. The thyroid baciloscopy was positive. Pulmonary disease was absent. The patient was treated with antituberculosis drugs. CONCLUSIONS: Thyroid TB is not frequent, and should be considered as differential diagnosis of hypothyroidism and anterior cervical mass.

O uso cada vez mais freqüente de métodos diagnósticos simples e efetivos tem contribuído significativamente para um aumento no diagnóstico de câncer da tiróide nos últimos anos. Entretanto, existem importantes evidências de que muitos dos microcarcinomas papilíferos têm um comportamento indolente e podem nunca evoluir para cânceres clínicos. Existe, portanto, uma necessidade urgente de desenvolver novas ferramentas capazes de predizer quais os tumores tiroidianos que permanecerão silenciosos e quais desenvolverão comportamento agressivo. Há uma série de marcadores clínicos de evolução bem estabelecidos e alguns estudos recentes sugerem que dados laboratoriais e métodos de imagem podem ser úteis. Marcadores moleculares também vêm sendo ativamente investigados e alguns, como BRAF, os genes GST e polimorfismos de p53, parecem promissores. Além disso, marcadores imunocitoquímicos e a medida da natureza fractal da cromatina podem aumentar a especificidade do diagnóstico anatomopatológico e ajudar a predizer o prognóstico. Existe uma necessidade imperiosa de elaborarmos diretrizes destinadas a selecionar os nódulos que merecem prosseguimento em sua avaliação, assim como novos métodos capazes de identificar lesões mais agressivas entre os geralmente indolentes tumores tiroidianos.

The large use of simple and effective diagnostic tools has significantly contributed to the increase in diagnosis of thyroid cancer over the past years. However, there is compelling evidence that most micropapillary carcinomas have an indolent behavior and may never evolve into clinical cancers. Therefore, there is an urgent need for new tools able to predict which thyroid cancers will remain silent, and which thyroid cancers will present an aggressive behavior. There are a number of well-established clinical predictors of malignancy and recent studies have suggested that some of the patient’s laboratory data and image methods may be useful. Molecular markers have also been increasingly tested and some of them appear to be very promising, such as BRAF, a few GST genes and p53 polymorphisms. In addition, modern tools, such as immunocytochemical markers, and the measure of the fractal nature of chromatin organization may increase the specificity of the pathological diagnosis of malignancy and help ascertain the prognosis. Guidelines designed to select nodules for further evaluation, as well as new methods aimed at distinguishing carcinomas of higher aggressiveness among the usually indolent thyroid tumors are an utmost necessity.

CONTEXTO: O diagnóstico de struma ovarii pode ser a fonte de muitos problemas diagnósticos. Pode ser cístico e o exame microscópico revelar somente poucos folículos típicos da tireóide, tendo por resultado a confusão com outros tumores ovarianos císticos. Uma amostragem extensiva deve ser realizada e imunohistoquímica pode ser decisiva para estabelecer a natureza do epitélio de revestimento. RELATO DE CASO: Os autores relatam dois casos do struma ovarii cístico e discutem critérios diagnósticos e limitações das biópsias de congelação nesses tumores.

CONTEXT: Struma ovarii, a rare neoplasm, is a monophyletic teratoma composed of thyroid tissue. It is generally considered to account for less than 5% of mature teratomas. CASE REPORT: A diagnosis of struma ovarii may be the source of many diagnostic problems. It may be cystic and microscopic examination may only reveal a few typical thyroid follicles, resulting in confusion with other cystic ovarian tumors. Extensive sampling should be undertaken and immunohistochemistry may be decisive in establishing the thyroid nature of the epithelial lining. The authors report two cases of cystic struma ovarii, and discuss diagnostic criteria and the limitations of frozen biopsies in these tumors.

CONTEXTO: Cisto de ducto tireoglosso é a anormalidade cervical congênita mais comum da infância. As lesões malignas de cisto de ducto tireoglosso são raras (cerca de 1%). OBJETIVO: Apresentar um relato de caso de um carcinoma papilífero originado em um cisto do ducto tireoglosso. TIPO DE ESTUDO: Relato de caso. RELATO DE CASO: Relatamos o caso de uma paciente de 21 anos com cisto de ducto tireoglosso, operada pelo método de Sistrunk, com punção aspirativa por agulha negativa para neoplasia. A histologia firmou o diagnóstico de carcinoma papilífero, com margens livres. Optou-se por não realizar tireoidectomia total ou parcial complementar, devido a não invasão da cápsula do cisto pelo tumor e pela ausência de lesões no parênquima tireoideano. No seguimento de dois anos a paciente não mostrou evidência de doença. São discutidas opiniões da literatura quanto à conduta referente à glândula tireóide.

CONTEXT: Thyroglossal duct cysts are the most common congenital cervical abnormality in childhood. Malignant lesions are rare in thyroglossal duct cysts (about 1%). OBJECTIVE: To report a case of papillary carcinoma in thyroglossal duct cysts. DESIGN: Case report. CASE REPORT: The patient was a 21-year-old female with a four-month history of an anterior midline neck mass but without other symptoms. The physical examination revealed a 4.0 cm diameter, smooth, painless, cystic nodule at the level of the hyoid bone. The thyroid gland was normal by palpation and no neck lymph nodes were found. Indirect laryngoscopy, fine-needle biopsy aspiration and cervical ultrasound were normal and compatible with the physical findings of a thyroglossal duct cyst. The patient underwent surgery with this diagnosis, under general anesthesia, and the mass was resected by the usual Sistrunk procedure. There were no local signs of invasion of the tissue surrounding the cyst or duct at surgery. The patient was discharged within 24 hours. Histopathological examination of the specimen showed a 3.5 x 3.0 x 3.0 cm thyroglossal cyst, partially filled by a solid 1.0 x 0.5 cm brownish tissue. Histological sections showed a papillary carcinoma in the thyroid tissue of a thyroglossal cyst, with normal thyroid tissue at the boundary of the carcinoma. There was no capsule invasion and the margins were negative. The follow-up of the patient consisted of head and neck examinations, ultrasonography of the surgical region and thyroid, and total body scintigraphy. The patient has been followed up for two years with no further evidence of disease.