RESUMO
BACKGROUND: Once familial medullary thyroid carcinoma gene carrier status is established, thyroidectomy must be performed in infancy for mutations in exon 10, but in familial medullary thyroid carcinoma with non-cysteine RET mutations, which is characterized by a late onset of C-cell disease, the appropriate timing of thyroidectomy is unclear. METHODS: We analyzed the cases of 76 patients who underwent thyroidectomy (mean age, 35.2 years); 66 patients underwent concomitant lymphadenectomy. RESULTS: Before the operation, 35 patients had abnormal basal calcitonin levels. Nine and 30 patients had negative or positive pentagastrin test results, respectively. We found normal thyroid in 4% of the patients, C-cell hyperplasia in 29% of the patients, medullary thyroid carcinoma in 67% of the patients (microscopic in 82.4%), and nodal metastases in 19.6% of the patients. The aggressiveness of the disease varied significantly between those patients with preoperative positive pentagastrin test results and those patients with high basal calcitonin levels, with a surgical cure rate of 60% and 34.3%, respectively. All patient who did not achieve cure had high basal preoperative calcitonin levels, which were related to macroscopic medullary thyroid carcinoma and nodal metastases in 5 of 9 patients. CONCLUSION: Thyroidectomy should not be delayed until basal calcitonin level becomes abnormal, at which time advanced disease may be present. As soon as the pentagastrin stimulation test becomes abnormal, operation should be undertaken on early staged disease to achieve cure for the patient. When performed while pentagastrin stimulation test is still negative, thyroidectomy may be truly prophylactic and should be recommended at 5 to 6 years.
Assuntos
Carcinoma Medular/genética , Carcinoma Medular/cirurgia , Mutação/genética , Proteínas Oncogênicas/genética , Receptores Proteína Tirosina Quinases/genética , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/cirurgia , Tireoidectomia/métodos , Adolescente , Adulto , Fatores Etários , Idoso , Calcitonina/sangue , Criança , Cisteína/genética , Hormônios Gastrointestinais , Heterozigoto , Humanos , Pessoa de Meia-Idade , Pentagastrina , Proteínas Proto-Oncogênicas c-ret , Resultado do TratamentoRESUMO
OBJECTIVE: To describe a patient with a large endometrial cyst of the liver and review the literature concerning these rare lesions. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 42-year-old nulligravid woman with a 22 x 24 x 30 cm cyst in the right lobe of the liver. INTERVENTION(S): Thorough exploration of the abdominal cavity revealed no evidence of endometrial implants elsewhere. A complete excision of the cyst was performed. MAIN OUTCOME MEASURE(S): Surgical specimen. RESULT(S): Histologic examination of the surgical specimen confirmed the diagnosis of endometriosis. CONCLUSION(S): Endometriosis should be included in the differential diagnosis list of a peripherally located cystic liver mass in women.