RESUMO
BACKGROUND: Familial non-medullary thyroid carcinoma (FNMTC) is defined as cancer developing in two or more first-degree relatives if predisposing factors, for example, radiation, are absent. The disease can be either syndromic, when it is a component of complex genetic syndromes, or non-syndromic (95% cases). The genetic basis of non-syndromic FNMTC is unknown; the clinical behavior of tumorsis unclear and, at times, contradictory. AIM: To analyze clinical manifestations of FNMTC and compare them with the data for sporadic papillary thyroid carcinomas in patients of the same age groups. MATERIALS AND METHODS: We examined 22 patients (a "parents" group and a "children" group) suffering from the non-syndromic FNMTC. For comparison, two groups of sporadic papillary carcinomas patients of the same age were drawn up("adult" and "young"). We analyzed tumor size and frequency of the distributionby the categoryof TNM system, invasiveness, multifocality, metastases to lymph nodes, type and extent of surgical and radioiodine treatment, and prognosis according to the MACIS criterion. RESULTS: Whether sporadic or familial, the tumor size, metastatic potential, and invasive potential are higher in young people, asalready known. There was no significant difference between the "parents" and "adult" groups of patients in terms of tumor parameters. One exception was the higher frequency of multifocal tumors in the FNMTC patients. Meanwhile, compared to the "young" sporadic papillary carcinomas patients, the FNMTC "children" had a higher frequency of T2 tumors, metastasizing (N1a-N1ab), and multifocal tumors, but a lower frequency of carcinomas with intrathyroidal invasions.In the FNMTC "children" compared to FNMTC "parents" was a higher frequency of T2 tumors, metastasizing carcinomas, and tumors with capsular invasion. CONCLUSION: FNMTC carcinomas are more aggressive than sporadic ones, especially in patients who are first-degree relatives in a family with parents already diagnosed with the disease.
Assuntos
Carcinoma Papilar , Carcinoma , Neoplasias da Glândula Tireoide , Humanos , Adolescente , Carcinoma Papilar/genética , Carcinoma Papilar/patologia , Radioisótopos do Iodo , Tireoidectomia , Neoplasias da Glândula Tireoide/patologia , Predisposição Genética para DoençaRESUMO
We studied the expression and activation of the main effector protein kinase of phosphatidylinositol-3-kinase cascade (PI3K) Akt in conventionally normal tissues, benign and highly differentiated (with and without metastases) human thyroid tumors. There was a difference in the Akt1 amount in tumor tissue compared with normal tissue in papillary carcinomas and tissue of multinodular goiter. Akt expression both in tumor and conventionally normal tissues of follicular adenoma was significantly lower than in follicular carcinoma. The lowest level of Akt expression was observed in tissues of multinodular goiter. Total activity of all three isoforms of Akt1/2/3 was lower in tumors compared to conventionally normal tissue. Thus, Akt activity (according to Thr308 phosphorylation) is not associated with proliferative processes in the tumor tissue of the thyroid. Apoptosis level detected in these tissues was not associated with the protein kinase activity either. Possible mechanisms of signaling cascade PI3K/Akt inhibition in thyroid tumors are discussed.
Assuntos
Adenocarcinoma Folicular/genética , Adenoma/genética , Carcinoma Papilar/genética , Bócio Nodular/genética , Fosfatidilinositol 3-Quinases/genética , Proteínas Proto-Oncogênicas c-akt/genética , Neoplasias da Glândula Tireoide/genética , Adenocarcinoma Folicular/enzimologia , Adenocarcinoma Folicular/patologia , Adenocarcinoma Folicular/cirurgia , Adenoma/enzimologia , Adenoma/patologia , Adenoma/cirurgia , Apoptose , Carcinoma Papilar/enzimologia , Carcinoma Papilar/patologia , Carcinoma Papilar/cirurgia , Regulação Neoplásica da Expressão Gênica , Bócio Nodular/enzimologia , Bócio Nodular/patologia , Bócio Nodular/cirurgia , Humanos , Fosfatidilinositol 3-Quinases/metabolismo , Fosforilação , Poli(ADP-Ribose) Polimerase-1/genética , Poli(ADP-Ribose) Polimerase-1/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais , Glândula Tireoide/enzimologia , Glândula Tireoide/patologia , Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/enzimologia , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgiaRESUMO
Analyzed the presence of BRAF V600E mutation in the focal thyroid gland in the preoperative diagnosis of papillary carcinoma (PC). Molecular genetic testing conducted on puncture aspirates from 26 patients before surgery. The diagnosis was verified according to the morphological investigations. Mutations in BRAF V600E detected only in patients with the thyroid PC. Thus, the definition of BRAF V600E mutation may be a marker in the preoperative diagnosis of thyroid PC. Analyzed the presence of BRAF V600E mutation in the focal thyroid gland in the preoperative diagnosis of papillary carcinoma (PC). Molecular genetic testing conducted on puncture aspirates from 26 patients before surgery. The diagnosis was verified according to the morphological investigations. Mutations in BRAF V600E detected only in patients with the thyroid PC. Thus, the definition of BRAF V600E mutation may be a marker in the preoperative diagnosis of thyroid PC.
