The use of ultrasound elastography in the assessment of malignancy risk in thyroid nodules and multinodular goitres.

OBJECTIVE: The objective of our work is to use a surgical series to analyse the validity of elastography in evaluating the malignancy of thyroid nodules and multinodular goitres. PATIENTS AND METHODS: The study examined 156 patients, 134 women (85·9%) and 22 men (14·1%), who underwent surgery for nodular thyroid disease between October 2008, and November 2010. The average age of the patients was 52 years (±14·42). Thirty-six patients (23·1%) presented with a single nodule, and 120 (76·9%) exhibited multinodular goitres. Prior to surgical intervention, all patients underwent colour eco-elastography using a qualitative five-point ordinal scale for nodule classifications. Test results were analysed using a receiver operating characteristic (ROC) curve, and an anatomical pathologic examination of surgical specimens was used as a gold standard diagnostic tool for comparison. RESULTS: Of the 192 nodules analysed, 28 (14·6%) were malignant. Using elastography data, an ROC curve was obtained with an area under the curve of 0·662 (±0·060) and a 95% confidence interval (CI 95%) between 0·545 and 0·779 (P = 0·006). By establishing a cut-off point that classified thyroid nodules with an elastographic value greater than or equal to 3 as malignant, we achieved a sensitivity of 75%, specificity of 45·73%, positive predictive value of 19·1% and negative predictive value of 91%. The positive and negative likelihood ratios were 1·38 and 0·55, respectively. CONCLUSIONS: Ultrasound elastography can provide information regarding malignancy risk in thyroid nodules and multinodular goitres. However, the sensitivity and specificity values obtained in our study are below those reported by other groups, a finding that calls into question the current clinical utility of ultrasound elastography.

[Phenotype of the C634Y mutation in the RET proto-oncogene in MEN2A: report of a family]. / Fenotipo de la mutación C634Y del protooncogén RET en el MEN2A: a propósito de una familia.

BACKGROUND AND OBJECTIVES: Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of an early diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus a later diagnosis with serum calcitonin. PATIENTS AND METHOD: Retrospective descriptive study of 8 members of a MEN 2A family by C634Y mutation. We performed serum calcitonin screening until 1999 and subsequently RET genetic testing was obtained. Carriers underwent total thyroidectomy and periodic determination of calcitonin, urinary metanephrines, calcium, phosphorus and neck and abdominal imaging techniques. RESULTS: Five patients were diagnosed by calcitonin familial screening and all of them have high calcitonin by now. Three patients were diagnosed by genetic testing (an adult and two children) and they are free of disease. Calcitonin was closely monitored in children and they underwent surgery when it started to raise, at 6 and 10 years old respectively, finding nodular C-cell hyperplasia in both. Of 8 carriers 3 developed pheochromocytomas, bilateral and asynchronous, one-half had normal urinary metanephrines and two of them were simultaneous with MTC. No patient had biochemical data suggesting hyperparathyroidism although in one patient multiple parathyroid adenomas were found at thyroidectomy. CONCLUSIONS: RET genetic analysis has achieved an early diagnosis and treatment with no development of MTC in our patients, adjusting the time and type of surgery and allowing a genotype-phenotype correlation. It demonstrates how a genetic alteration is associated with a pathology that we can prevent and manage improving the prognosis of our patients.

Fenotipo de la mutación C634Y del protooncogén RET en el MEN2A: a propósito de una familia / Phenotype of the C634Y Mutation in the RET Proto-oncogene in MEN2A: Report of a Family

Antecedentes y objetivos: El estudio genético del protooncogén RET permite un diagnóstico precoz del síndrome de neoplasia endocrina múltiple tipo 2 y establece una correlación entre el genotipo y las manifestaciones clínicas. El objetivo del presente trabajo es demostrar los beneficios del diagnóstico precoz por estudio genético seguido de tratamiento temprano en la curación del carcinoma medular de tiroides (CMT) frente al diagnóstico más tardío con la calcitonina sérica. Pacientes y método: Estudio descriptivo retrospectivo de 8 miembros de una familia con MEN2A por mutación C634Y. Se realizó despistaje con calcitonina sérica hasta 1999 y estudio genético de RET posteriormente. A los portadores se les realizó tiroidectomía total y determinaciones periódicas de calcitonina, metanefrinas urinarias, calcio, fósforo y pruebas de imagen a nivelcervical y abdominal. Resultados: Los 5 pacientes diagnosticados por despistaje familiar con calcitonina presentan en la actualidad cifras de calcitonina elevadas. Los 3 diagnosticados por estudio genético (un adulto y dos niños) se encuentran libres de enfermedad. En los niños se monitorizó la calcitonina y se les intervino cuando esta comenzó a elevarse, a los 6 y 10 años respectivamente, hallándose hiperplasia nodular de células C en ambos. De los 8 afectos 3 presentaron feocromocitomas, bilaterales y asincrónicos, la mitad con metanefrinas urinarias (..) (AU)

Background and objectives: Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of a nearly diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus alater diagnosis with serum calcitonin. Patients and method: Retrospective descriptive study of 8 members of a MEN 2A family byC634Y mutation. We performed serum calcitonin screening until 1999 and subsequently RET genetic testing was obtained. Carriers underwent total thyroidectomy and periodic determination of calcitonin, urinary metanephrines, calcium, phosphorus and neck and abdominal imagingte chniques. Results: Five patients were diagnosed by calcitonin familial screening and all of them have highcalcitonin by now. Three patients were diagnosed by genetic testing (an adult and two children)and they are free of disease. Calcitonin was closely monitored in children and they underwentsurgery when it started to raise, at 6 and 10 years old respectively, finding nodular C-cellhyperplasia in both. Of 8 carriers 3 developed pheochromocytomas, bilateral and asynchronous,one-half had normal urinary metanephrines and two of them were simultaneous with MTC. Nopatient had biochemical data suggesting hyperparathyroidism although in one patient multipleparathyroid adenomas were found at thyroidectomy. Conclusions: RET genetic analysis has achieved an early diagnosis and treatment with nodevelopment of MTC in our patients, adjusting the time and type of surgery and allowing agenotype-phenotype correlation. It demonstrates how a genetic alteration is associated with apathology that we can prevent and manage improving the prognosis of our patients (AU)

Hiperparatiroidismo, bocio y carcinoma tiroideo bien diferenciado: una relación frecuente con implicaciones diagnósticas / Hyperparathyroidism, goiter and well-differentiated thyroid carcinoma. A common association with diagnostic implications

Objetivo. Estudiar la enfermedad tiroidea encontrada en pacientes intervenidos por hiperparatiroidismo (HPT) comparando la frecuencia de carcinomas tiroideos bien diferenciados entre los distintos tipos de HPT. Pacientes y método. Revisión retrospectiva de las historias clínicas de 124 pacientes intervenidos de HPT de manera consecutiva en nuestro servicio por un mismo cirujano entre enero de 1998 y junio de 2006. Resultados. Se trata de 105 (84,7%) mujeres y 19 (15,3%) varones, con una media de edad de 59,7 ± 15,66 años. De ellos, 115 (92,7%) presentan HPT primario (HPTP) y 9 (7,3%), HPT renal (HPTR). En 3 (2,6%) HPTP y en ninguno de los HPTR hay antecedente de radioterapia cervical. En 43 (34,7%) pacientes se realizó simultáneamente algún tipo de cirugía del tiroides, 40 (34,8%) de los HPTP y 3 (33,3%) de los HPTR (p = 1,00). Entre los 115 pacientes intervenidos por HPTP, encontramos 6 (5,2%) carcinomas papilares y entre los 9 afectos de HPTR, 2 (22,2%), sin diferencias estadísticamente significativas entre ambos grupos (p = 0,105). Conclusiones. La afección tiroidea es frecuente en pacientes intervenidos por HPT, pero no más que en series de autopsias. No se encuentran diferencias significativas en la prevalencia de carcinoma papilar de tiroides entre los HPT primario y renal. La radioterapia cervical no parece ser en la actualidad un factor clínicamente relevante en el desarrollo de carcinoma papilar de tiroides en los pacientes afectos de HPTP. La prevalencia de enfermedad tiroidea en la población general justifica la realización de una ecografía preoperatoria de forma sistemática (AU)

Objective. To analyze thyroid gland disease incidentally found in patients undergoing surgery for hyperparathyroidism and to compare the frequency of nonmedullary thyroid carcinoma among different hyperparathyroidism varieties. Patients and method. We retrospectively reviewed 124 clinical records of patients who underwent surgery for hyperparathyroidism by a single surgeon from January 1998 to June 2006. Results. There were 105 women (84.7%) and 19 men (15.3%). The mean age was 59.7 ± 15.66 years old. Of these, 115 (92.7%) were diagnosed with primary hyperparathyroidism and 9 (7.3%) with renal hyperparathyroidism. In the primary hyperparathyroidism group, 3 patients (2.6%) had received neck irradiation compared with none in the renal hyperparathyroidism group. Thyroid gland surgery was performed simultaneously in 43 patients (34.7%), 40 (34.8%) of them belonging to the first group and three (33.3%) to the second group (p = 1.00). Among the 115 patients operated on for primary hyperparathyroidism, 6 papillary thyroid carcinomas (5.2%) were found and 2 (22.2%) were found among the 9 patients with renal hyperparathyroidism, but this difference was not statistically significant (p = 0.105). Conclusions. An incidental finding of thyroid disease in patients undergoing surgery for hyperparathyroidism is fairly frequent but no more so than that found in autopsy series. No statistically significant differences were found between primary and renal hyperparathyroidism in the prevalence of papillary thyroid carcinoma. Currently, neck irradiation does not seem to be a clinically significant factor in this issue. The high prevalence of thyroid disease in the general population warrants systematic neck ultrasound before hyperparathyroidism surgery (AU)

[Hyperparathyroidism, goiter and well-differentiated thyroid carcinoma. A common association with diagnostic implications]. / Hiperparatiroidismo, bocio y carcinoma tiroideo bien diferenciado: una relación frecuente con implicaciones diagnósticas.

OBJECTIVE: To analyze thyroid gland disease incidentally found in patients undergoing surgery for hyperparathyroidism and to compare the frequency of nonmedullary thyroid carcinoma among different hyperparathyroidism varieties. PATIENTS AND METHOD: We retrospectively reviewed 124 clinical records of patients who underwent surgery for hyperparathyroidism by a single surgeon from January 1998 to June 2006. RESULTS: There were 105 women (84.7%) and 19 men (15.3%). The mean age was 59.7 +/- 15.66 years old. Of these, 115 (92.7%) were diagnosed with primary hyperparathyroidism and 9 (7.3%) with renal hyperparathyroidism. In the primary hyperparathyroidism group, 3 patients (2.6%) had received neck irradiation compared with none in the renal hyperparathyroidism group. Thyroid gland surgery was performed simultaneously in 43 patients (34.7%), 40 (34.8%) of them belonging to the first group and three (33.3%) to the second group (p = 1.00). Among the 115 patients operated on for primary hyperparathyroidism, 6 papillary thyroid carcinomas (5.2%) were found and 2 (22.2%) were found among the 9 patients with renal hyperparathyroidism, but this difference was not statistically significant (p = 0.105). CONCLUSIONS: An incidental finding of thyroid disease in patients undergoing surgery for hyperparathyroidism is fairly frequent but no more so than that found in autopsy series. No statistically significant differences were found between primary and renal hyperparathyroidism in the prevalence of papillary thyroid carcinoma. Currently, neck irradiation does not seem to be a clinically significant factor in this issue. The high prevalence of thyroid disease in the general population warrants systematic neck ultrasound before hyperparathyroidism surgery.

Tratamiento quirúrgico del bocio endotorácico que produce síndrome compresivo en ancianos con múltiples enfermedades concomitantes / Surgical treatment of endothoracic goiter producing compressive syndromes in elderly patients with multiple comorbidities

El bocio endotorácico produce una potencial morbimortalidad derivada tanto de la compresión de estructuras que atraviesan el estrecho cervicotorácico como de su posible malignización. El tratamiento quirúrgico en el anciano, con enfermedad asociada en la mayoría de los casos, se cuestiona por el alto riesgo anestésico y quirúrgico que conlleva. Se presentan 3 casos intervenidos de bocio endotorácico que producía síndrome compresivo en el mediastino, todos con enfermedades importantes asociadas. Tras la exéresis quirúrgica, realizada sin complicaciones, los pacientes mostraron remisión total de la clínica compresiva y mejoría de su calidad de vida. El desarrollo de las técnicas anestésicas y la habilidad y la experiencia de algunos cirujanos hace que la edad no figure como factor limitante en la indicación de tratamiento quirúrgico de estos pacientes ancianos

Endothoracic goiter produces potential morbidity and mortality due to possible compression of surrounding structures and its potential for malignant transformation. Surgical treatment of this entity in the elderly, who usually have associated diseases, has been questioned due to the high surgical and anesthetic risk it carries. We present three cases of endothoracic goiter that produced mediastinal compression syndrome in patients with significant associated diseases. Surgical excision was performed without complications and the patients showed complete remission of compressive symptoms and improved quality of life. Because of the development of anesthetic techniques and the skill and experience of some surgeons, age is not a limiting factor in the indication for surgical treatment in these elderly patients