Barriers to thyroid cancer screening with ultrasound in patients with familial adenomatous polyposis.

OBJECTIVES/HYPOTHESIS: To identify barriers to care in patients with familial adenomatous polyposis (FAP) that have not undergone ultrasound for thyroid cancer (TC) screening. STUDY DESIGN: Case series and survey. METHODS: A study was conducted examining referral patterns for thyroid ultrasound (TUS) in FAP patients for TC screening. Patients with FAP seen at our institution were identified using International Classification of Diseases, Ninth Revision and Tenth Revision codes. Chart review was performed for TUS and the results were recorded. Patients and healthcare providers were surveyed to determine barriers to TUS and opportunities for improvement. RESULTS: Thirteen out of 35 patients surveyed (37%) were told by a healthcare provider that TUS was recommended for TC screening. The incidence for TC in FAP patients ranges from 15 to 12%, whereas the general population risk is 0.02% to 1%. In our series, one patient of 12 (8%) had TC. Barriers to care included poor patient education about the risk of TC in FAP and miscommunication among specialties for referral for TUS. Also, patients enrolled in a FAP registry have improved care, as they are more likely to undergo TUS than those not enrolled. CONCLUSIONS: FAP patients are at a higher risk of developing TC. Therefore, it is important for these patients to be informed and follow the recommended guideline to get a baseline TUS for screening as well as receive better patient education about the risk of TC and improved communication among specialties. Additionally, patients enrolled in a FAP registry are more likely to undergo ultrasound for TC screening, so there needs to be more centralized coordination for the multidisciplinary care of this disease. LEVEL OF EVIDENCE: NA Laryngoscope, 129:2436-2441, 2019.

Management of hereditary medullary thyroid carcinoma.

Hereditary medullary thyroid carcinoma (MTC) represents up to one-third of MTC cases and includes multiple endocrine neoplasia syndrome type 2A (and its variant familial MTC) and 2B. The aim of this paper is to provide an overview of the disease focusing on the management of hereditary MTC patients, who have already developed tumor, as well as discuss the recommended approach for asymptomatic family members carrying the same mutation. A PubMed search was performed to review recent literature on diagnosis, genetic testing, and surgical and medical management of hereditary MTC. The wide use of genetic testing for RET mutations has markedly influenced the course of hereditary MTC. Prophylactic thyroidectomy of RET carriers at an early age eliminates the risk of developing MTC later in life. Pre-operative staging is a strong prognostic factor in patients, who have developed MTC. The use of recently approved tyrosine kinase inhibitors (vandetanib, cabozantinib) holds promising results for the treatment of unresectable, locally advanced, and progressive metastatic MTC. Genetic testing of the RET gene is a powerful tool in the diagnosis and prognosis of MTC. Ongoing research is expected to add novel treatment options for patients with advanced, progressive disease.

Tiroidectomía total profiláctica en un niño de 5 años, asintomático, con neoplasia endocrina múltiple tipo 2 / Prophylactic total thyroidectomy in asymptomatic five-year-old child with multiple endocrine neoplasia type 2A

La neoplasia endocrina múltiple tipo 2A se caracteriza por la presencia de cáncer medular de tiroides, feocromocitoma e hiperparatiroidismo. Se debe a una mutación germinal del protooncogén RET situado en el cromosoma 10. Presentamos el caso de un niño de 5 años de edad, asintomático, con antecedentes familiares de cáncer medular de tiroides y mutación en el codón 634 del protooncogén RET, en el que se realizó un estudio genético que confirmó la misma mutación. Se encontraba asintomático, con niveles normales de calcio, paratohormona, calcitonina, función tiroidea, ecografía tiroidea y catecolaminas. Se realizó una tiroidectomía total profiláctica, sin que el paciente presentara complicaciones durante ni después de la cirugía, y sin otras manifestaciones del síndrome hasta ahora. Todos los casos de mutación en el gen RET precisan la realización de una tiroidectomía total profiláctica, para evitar el desarrollo del cáncer medular de tiroides. Se recomienda efectuar un seguimiento posquirúrgico de los pacientes por las posibles complicaciones derivadas de la cirugía, así como de la función tiroidea por el riesgo de aparición de hiperparatiroidismo y feocromocitoma (AU)

The multiple endocrine neoplasia type 2A is characterized by the presence of medullary thyroid cancer, pheochromocytoma and hyperparathyroidism. Is due to a germline mutation in the RET proto-oncogene located on chromosome 10. We report the case of an asymptomatic 5 year old, with family history of medullary thyroid cancer and mutation at codon 634 of the RET proto-oncogene. In his genetic study was confirmed the same mutation. He was asymptomatic, with levels of calcium, parathyroid hormone, calcitonin, catecholamines, thyroid function and thyroid ultrasound all of them normal. Prophylactic total thyroidectomy was made without complications during or after surgery and without other manifestations of the syndrome until now. All cases of mutation in the RET gene need prophylactic total thyroidectomy to prevent the development of medullary thyroid cancer. Monitoring of post-surgical complications, thyroid function and risk of hyperparathyroidism and pheochromocytoma is recommended (AU)

Mini-invasive videoassisted thyroid lobectomy for neonatal hyperfunctioning adenoma related to a somatic TSHr gene mutation.

We report here a case of a paediatric hyperthyroidism due to a micro-macro-follicular thyroid adenoma in the presence of heterozygous point mutation of TSH receptor (TSHr). We describe the case from the initial diagnosis, through laboratoristic examinations and imaging techniques, until the radical surgical treatment made by a mini-cervicotomic videoassisted technique. We also explained the genetic work-up from peripheral blood and thyroid adenoma tissue.

Differentiation between benign and malignant solid thyroid nodules using an US classification system.

OBJECTIVE: To evaluate the diagnostic accuracy of a new ultrasound (US) classification system for differentiating between benign and malignant solid thyroid nodules. MATERIALS AND METHODS: In this study, we enrolled 191 consecutive patients who received real-time US and subsequent US diagnoses for solid thyroid nodules, and underwent US-guided fine-needle aspiration. Each thyroid nodule was prospectively classified into 1 of 5 diagnostic categories by real-time US: "malignant," "suspicious for malignancy," "borderline," "probably benign," and "benign". We evaluated the diagnostic accuracy of thyroid US and the cut-off US criteria by comparing the US diagnoses of thyroid nodules with cytopathologic results. RESULTS: Of the 191 solid nodules, 103 were subjected to thyroid surgery. US categories for these 191 nodules were malignant (n = 52), suspicious for malignancy (n = 16), borderline (n = 23), probably benign (n = 18), and benign (n = 82). A receiver-operating characteristic curve analysis revealed that the US diagnosis for solid thyroid nodules using the 5-category US classification system was very good. The sensitivity, specificity, positive and negative predictive values, and accuracy of US diagnosis were 86%, 95%, 91%, 92%, and 92%, respectively, when benign, probably benign, and borderline categories were collectively classified as benign (negative). CONCLUSION: The diagnostic accuracy of thyroid US for solid thyroid nodules is high when the above-mentioned US classification system is applied.

Obstrucción súbita de la vía aérea superior secundaria a carcinoma tiroideo. presentación de un caso / Sudden obstruction of the upper airway secondary to thyroid carcinoma. presentation of a case

La obstrucci ón s úbita de la v ía aérea superior puede ser manifestaci ón de factores o condiciones tanto intr ínsecas como extr ínsecas. Como causa extr ínseca raramente asociada se encuentra el Carci - noma Papilar de Tiroides CPT, siendo este el subtipo m ás frecuente de Carcinoma de Tiroides que representa el 75 - 80% de los casos 1 . Se revisa un caso interesante de un paciente masculino de 13 a ños que se recibe en la emergencia del Hospital Mario Catarino Rivas con cuadro de dificultad respiratoria importante y estridor audible a distancia, que amerit ó intubaci ón inmediata y traslado a Unidad de Cuidados Intensivos Pedi átricos (UCIP). Con antecedentes de cuadro similar pero de menor intensidad 2 meses atr ás; tratado en su momento como sospecha fundada de Tuberculosis Pulmo- nar dado los hallazgos cl ínicos, antece dentes epidemiol ógicos de contacto con adulto en tratamiento antif ímico y hallazgos radiol ógicos de infiltrados miliares carac ter ísticos, en UCI P se complementan estu dios con TAC de Cuello que muestra cre cimiento Tiroideo con compresi ón de Tr áquea por lo que se programa para cirugí a ( Tiroidectom ía ) con estudio anato -mopatol ógico trans y postoperatorio el cual reporta Carcinoma Papilar de Tiroi des. Actualmente paciente en control con servi cio de Endocrinologí a y Hematoncologí a, en plan de recibir lodo Radioactivo...(AU)

Cáncer medular de tiroides familiar: importancia del estudio molecular en el diagnóstico / Familial medullary thyroid carcinoma: Importance of the molecular analysis in the diagnosis

El cáncer medular de tiroides familiar, neoplasia del tejido tiroideo poco prevalente, tiene su origen en una mutación del protoncogén RET. A continuación describimos un caso de presentación atípica y mutación poco frecuente (V804L), en el que la punción aspiración aguja fina y las técnicas de imagen no resultaron concluyentes y fueron las pruebas bioquímicas y el análisis molecular del gen RET las que permitieron llegar al diagnóstico y establecer el pronóstico del caso índice y sus familiares (AU)

Familial medullary thyroid cancer (FMTC) is a non-predominant thyroid neoplasia originating from a proto-oncogene RET mutation. The case presented is atypical in its form of presentation, a fairly uncommon mutation (V804L) and does not have conclusive fine-needle aspiration biopsy (FNAB) and image studies. Biochemical and RET molecular analysis has a high diagnostic and predictive value in the index and familial cases (AU)

Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.

A 5-week-old male patient was seen for symptoms suggestive of Hirschsprung disease (abdominal distension, failure to thrive, and explosive defecation). Rectum biopsies revealed an intestinal ganglioneuromatosis, which is usually associated with multiple endocrine neoplasia (MEN) syndrome type 2B. The ensuing molecular genetic analysis revealed a M918T mutation of the RET protooncogene, which is associated with early-onset medullary thyroid carcinoma (MTC). Therefore, total thyroidectomy and central lymphadenectomy were performed at the age of 9 weeks. Histology showed a medullary microcarcinoma. This report of MTC occurrence within the first weeks of life underlines the importance of early diagnosis and thyroidectomy in patients with MEN 2B syndrome. Because many patients with MEN 2A and B show gastrointestinal symptoms before the development of MTC, the possibility of MEN 2 should be recognized, and genetic testing for the presence of RET mutations should be included in the explorative diagnosis for megacolon.

Utilidad clínica de los estudios moleculares en el carcinoma medular de tiroides familiar / Clinical use of molecular studies in familiar medullary thyroid carcinoma

El carcinoma medular de tiroides es un tumor maligno secretor de calcitonina, derivado de las células parafoliculares tiroideas. Representa del 5 al 10 por ciento de todos los carcinomas de tiroides, de los cuales el 20 por ciento se originan por mutaciones de la línea germinal. El carcinoma medular de tiroides y el feocromocitoma son los tumores malignos que forman parte de la entidad conocida como neoplasia endocrina múltiple tipo 2A (MEN 2A) y presentan una mutación en el protooncogén RET. Todos los pacientes con MEN 2A desarrollarán en el 100 por ciento un carcinoma medular de tiroides. Sólo es necesaria la mutación de un solo gen para que se desarrolle el tumor; de ahí, la herencia dominante con una penetrancia prácticamente completa en este tipo de tumores. Se han identificado varias mutaciones en el oncogén RET en casos de carcinoma medular de tiroides familiar, la mayoría en los exones 10 y 11. Los resultados comunicados en el International RET Mutation Consortium han demostrado que el 85 por ciento de las familias con síndrome MEN 2A tienen una mutación en el codón 634. El tratamiento de elección en los casos de MEN 2A con la detección de la mutación para desarrollar carcinoma medular de tiroides familiar es la tirodectomía total antes de los 5 años de edad, en prevención a la aparición de un carcinoma. En los casos en que la tirodectomía se realice de forma inadecuada o incompleta todos los pacientes desarrollarán cáncer (AU)

Hypothyroldism in a neonate following excision of a cervical teratoma.

Hypothyroidism developed in a neonate following the excision of a large cervical teratoma. This finding supports the observation that cervical teratomas commonly arise from thyroid tissue. Thyroid function tests should be performed routinely in all patients in whom identifiable residual thyroid tissue is not demonstrated at the conclusion of the operation.

Congenital thyroid teratoma: a case with persistent neuroglial involvement of cervical lymph nodes.

A case of congenital thyroid teratoma with nodal spread is reported. Primary surgery was performed on a female infant on the 6th day of life. The thyroid mass was removed in toto, and an adjacent 1.2 cm lymph node was also removed. Histology showed solid and cystic teratoma with a variety of elements including prominent neurological tissue that was neuroblastoma-like in places. Residual compressed non-neoplastic thyroid tissue was identified in the subcapsular plane. The lymph node was largely replaced by neuroglial tissue that was cellular in some areas and showed intrasinusoidal growth and some mitotic activity. Recurrent cervical lymphadenopathy gradually developed, commencing a few months after surgery. Excision of cervical nodes was undertaken at 9 months of age. About 13 nodes up to 2 cm in diameter were excised. Most of the specimens consisted of reactive lymph nodes, but in three of the smaller nodes, there were subcapsular and sinusoidal masses of focally cellular neuroglial tissue, again with occasional mitoses. This tissue stained strongly for glial fibrillary acidic protein, in addition to expressing neural markers. The lymph node "deposits" were interpreted as "displaced" lesional tissue rather than metastases in the usual, aggressive sense. The girl remains well at 5 years of age.

[Teratoma of the thyroid gland in an infant]. / Teratom stitaste zlezde kod odojceta.

Stridor is the major clinical sign of upper airways obstruction in children and is usually caused by various inflammatory and structural lesions of the pharynx, larynx and subglottic trachea. Rarely, this obstruction can be produced by growth of a tumour. We present a three-month-old infant with upper airways obstruction caused by thyroid teratoma. Teratomas represent 3-5% of all tumours in childhood. The main sites of these tumours are the gonads, the sacrococcygeal region and the anterior mediastinum. The neck is one of the least common sites, accounting for only about 5% of all teratomas. As opposed to adults in whom prognosis depends primarily on histologic type of the tumour, the most important prognostic factors in children are the age of the patient, localization and histologic type of the tumour. In about 30% of cases neck teratomas are associated with polyhydramnios which can be easily detected by routine ultrasound examination in pregnancy. Surgery is the treatment of choice in young children and usually no further radio- or chemotherapy is needed. Clinical diagnosis, histologic features, prognosis, management, follow-up and prenatal detection of thyroid teratoma in children are discussed in the paper.

[Ultrasound diagnosis of benign teratoma of the thyroid gland]. / Ultraschalldiagnostik eines benignen Teratoms der Schilddrüse.

We report about a six-year old girl who underwent a hemithyroidectomy because of a teratoma in the right thyroid gland. In ultrasonography, the teratoma shows a rather well limited tumor in the right thyroid gland. It shows no signs of infiltration or compression of adjacent structures. The inner structure of the teratoma is characterized by an inhomogeneous and mixtured picture of high density echos, low density echos and areas without echos. Although the localisation of the tumor was possible by ultrasonography, the specific diagnosis of a teratoma remains difficult.

Congenital occult papillary carcinoma of the thyroid gland.

A male infant born at 34 weeks of gestation had a 3-mm occult papillary thyroid carcinoma of the follicular variant type that was discovered fortuitously at autopsy. Although clinically overt papillary thyroid carcinoma has been described in neonates in whom nodules were present at birth, this is apparently the first description of an occult congenital thyroid carcinoma. The reasons for this discrepancy and the potential value of further documentation of occult thyroid carcinoma in neonates are briefly discussed.

Dysontogenetic neoplasms of the thyroid gland in infancy: two case reports.

Two rare cases of benign dysontogenetic neoplasms of the thyroid gland in pediatric age are presented, which were observed at the E.N.T. department of the Bambino Gesù Hospital of Rome, and successfully operated. The first case turned out to be a dysembryoma, classified as monodermic because of its origin from derivatives of only one germinal layer, the entoderm. The second case, a teratoma, presented a high seric concentration of AFP as the consequence of the synthetic activity of the share of embryonal epatic tissue present in the neoformation. Criteria to distinguish thyroid from cervical teratomata and to classify the different types of dysontogenetic neoplasms are discussed. The usual clinical and pathological manifestations of teratomas of the neck in infancy are mentioned. The necessity of a prompt surgical removal and of pre- and postoperative thyroid function studies is mentioned.

[Teratoma of the thyroid gland in the newborn]. / Teratom der Schilddrüse beim Neugeborenen.

Teratoma of the thyroid gland is extremely rare. A single case is reported in the newborn and the symptomatology, operative problems and histology are discussed.