RESUMO
Clinical oncology is currently undergoing a period of unprecedented change. Targeted therapy, and subsequently immunotherapy, has revolutionized the clinical course and outcome of many patients with solid cancer. Clinical oncology is inseparable from molecular oncology, the development of which is interconnected. Molecular tumor research proposes the most precise, effective and lesser toxic antitumor therapy regimen is an extremely urgent clinical task, especially in life-threatening and resistant to other types of treatment cases of cancer. Modern technologies of genomic and postgenomic studies, as well as molecular imaging methods (positron and single photon emission computed tomography, PET and SPECT, respectively) make it possible not only to assess the metabolic and receptor status of tumor foci, but also to select the optimal therapeutic tactics as a key to the lock. In the clinical practice of oncology, there is an increasing need for molecular tumor board (MTB). Published real clinical experience with MTB-recommended treatment regimens based on the molecular geno-transcriptomic profile of the tumor indicates better relapse-free and overall patient survival compared to treatment prescribed by a physician without taking into account the molecular profile of the tumor. More experience is needed and randomized controlled clinical trials are needed for more solid and evidence-based conclusions. However, there is no doubt that the MTB is a powerful tool for the development of precision personalized oncology.
Assuntos
Neoplasias , Medicina de Precisão , Humanos , Medicina de Precisão/métodos , Neoplasias/tratamento farmacológico , Neoplasias/patologia , Oncologia , Genômica , Tomografia Computadorizada de Emissão de Fóton ÚnicoRESUMO
In recent years, the understanding of the epidemiology, symptoms and strategies for managing patients with hyperparathyroidism has changed significantly. The most common cases in clinical practice are of sporadic primary hyperparathyroidism, which today ranks third in prevalence among endocrine diseases (the frequency of occurrence in the adult population is, on average, 12%). In primary hyperparathyroidism, solitary parathyroid adenoma is detected in up to 85% of all cases. The only treatment is radical surgical removal of pathologically altered parathyroid tissue. Early diagnosis and treatment of hyperparathyroidism makes it possible to avoid severe lesions of the skeletal bones and visceral organs. A diagnostically challenging clinical case of a combined onco-endocrine pathology in a 70-year-old patient is presented. The main difficulties in the initial diagnosis were associated with the absence of pathognomonic symptoms of the disease, which was often completely asymptomatic. The most urgent problem appears to be the topical diagnosis of pathologically altered parathyroid glands. Therefore, there is a need to develop an algorithm for the combining and sequential use of existing medical imaging methods.
Assuntos
Hiperparatireoidismo Primário , Neoplasias da Glândula Tireoide , Adenoma/complicações , Idoso , Diagnóstico Diferencial , Humanos , Hiperparatireoidismo Primário/diagnóstico , Neoplasias das Paratireoides/complicaçõesRESUMO
The somatic mutation in BRAFT1799A (BRAFV600E), the data on the prognostic role of which are contradictory, is one of the most common molecular genetic abnormalities in the cells of papillary thyroid carcinoma (PTC). OBJECTIVE: To investigate the association of the immunoexpression of mutant BRAF in PTC with different morphological characteristics and long-term treatment results in patients. MATERIAL AND METHODS: Information on inpatients with PTC was obtained from the database of the Pathology Department, A.F. Tsyb Medical Radiology Research Center (a branch of the National Medical Radiology Research Center, Ministry of Health of the Russia). The paraffin-embedded blocks of surgically removed primary, metastatic, and recurrent PTC tissues were cut and stained with hematoxylin and eosin and anti-mutant BRAF monoclonal antibodies. The results of immunohistochemical tests were assessed and the frequency of BRAF immunoexpression was analyzed in relation to various clinical and morphological parameters of tumor growth, the pattern and volume of treatment in the patients, by taking into account its long-term results (the presence or absence of tumor recurrence and metastases in the postoperative period). RESULTS: The expression of mutant BRAF (BRAF+) was noted in 29 (39.3%) of the 74 cases of PTC. The BRAF+ group differed from the BRAF group by a higher proportion of male patients, older age, advanced clinical stage of carcinoma, a predominance of papillary structure of tumors, and a higher frequency of their recurrence and/or metastases in the postoperative period. CONCLUSION: The immunohistochemical assessment of BRAF status opens up a possibility to predict local recurrence and metastases in the postoperative period in patients treated for PTC.
Assuntos
Proteínas Proto-Oncogênicas B-raf , Câncer Papilífero da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Imuno-Histoquímica , Masculino , Mutação , Recidiva Local de Neoplasia , Prognóstico , Proteínas Proto-Oncogênicas B-raf/genética , Federação Russa , Câncer Papilífero da Tireoide/genética , Câncer Papilífero da Tireoide/patologia , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/patologiaRESUMO
Statistical analysis is an integral component of any clinical study. The objective of the present work was to assist clinicians in understanding various methods of statistical treatment of medical findings without going into details of mathematical computation. The most strongly sought for and popular analytical procedures are considered in application to clinical and experimental medical research. Part 1 of this communication is focused on descriptive statistics and methods of univariate statistical analysis. Part II will be concerned with the analysis of survivorship and multivariate statistics.
RESUMO
Statistical analysis is an integral component of clinical studies. The objective of the present paper is to assist clinicians in getting deeper insight into basic principles underlying different methods available for the statistical treatment of medical data without a detailed description of relevant mathematical calculations. The most popular and widely used methods of statistical analysis are considered with special reference to their practical application in clinical and experimental medicine. Part I of the review was devoted to foundations of descriptive statistics and univariate analysis. Part II is focused on the principles of survival analysis and multivariate methods.
RESUMO
Thirty-two cases of hereditary medullary thyroid carcinoma (HMTC) and 95 sporadic HMTC (SHMTC), 44 familial papillary TC (FPTC), and 172 sporadic cases were comparatively analyzed to improve the diagnosis and treatment of familial thyroid cancer. A hundred and one DNA samples from patients with MTC and their relatives were examined. BRAF and RET/PTC gene mutations were investigated in 6 patients with FPTC. The frequencies of familial TC, HNTC, and FPTC were 6 6, 26.5, and 4.3%, respectively. The mean age of patients with HMTC and SHMTC was 30.J±13.6 and 46.3±J3.1 years, respectively (p < 0.0001); tumor multicentricity was 87.5 and 36.8% (p < 0 0001) and bilaterality was 87.5 and 0%, respectively (p < 0.001). Inheritable RET mutations were detected in 16 families. Eight asymptomatic carriers of RET mutations were revealed; 3 of them underwent preventive thyroidectomy. There was the commonest (63.6%) codon 634 mutation in which the earliest manifestation and aggressive course of the disease were observed. The efficiency of screening for type 2 multiple endocrine neoplasia syndrome Increased by 1.8 times (from 31.2 to 51.2%). In the mother and daughter with FPTC, silent mutation was found in codon 891 of RET gene exon 15. Genetic examination of the relatives of patients with HMTC made it possible to diagnose the disease at its early stage and to perform preventive surgical treatment. The aggressiveness of HMTC makes it necessary to make total thyroidectomy. The absence of differences in the clinical course of familial and sporadic PTC predetermines uniform treatment policy.
RESUMO
Medullary thyroid cancer (MTC) is a fairly rare disease, accounting for 5-7% of all cases of thyroid cancer. The sporadic form of thyroid cancer is observed in 70-80% of cases, family (inherited - autosomal dominant type of inheritance) - in 20-30%. Familial forms of MTCG are caused by point mutations in the RET proto-oncogen (Rearranged during Transfection). To date, about 25 germinal (inherited) mutations are described in the world literature in 19 codons of the RET gene, which are found in 97% of patients with MEN 2A, in 95% with MEN 2B and in 86% of patients with SMR.
RESUMO
The guidelines presented do not pretend to be a systematic presentation of all aspects of the diagnosis and treatment of nodular goiter and are not intended to replace guidelines for various medical disciplines. In real clinical practice, situations may arise that are beyond the scope of the recommendations presented, in connection with which the final decision regarding a specific patient and responsibility for him lies with the attending physician.The recommendations presented are mainly devoted to the diagnosis and treatment of nodular (multinodular) euthyroid colloid, differently proliferating goiter in adults (over 18 years of age) and are the agreed opinion of the RAE experts who developed them. Nodular (multinodular) toxic goiter, tumors (malignant and benign), as well as other diseases that can manifest themselves by nodular formations of the thyroid gland (thyroid gland), are discussed mainly in the context of differential diagnosis. The recommendations also do not affect the features of diagnosis and treatment of nodular goiter in children and adolescents.