المؤلفون: V. D. Yakushina, V. V. Strelnikov, T. F. Avdeeva, T. P. Kazubskaya, T. T. Kondratieva, L. V. Lerner, A. V. Lavrov, В. Д. Якушина, В. В. Стрельников, Т. Ф. Авдеева, Т. П. Казубская, Т. Т. Кондратьева, Л. В. Лернер, А. В. Лавров

المساهمون: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation., Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ».

المصدر: Medical Genetics; Том 22, № 11 (2023); 47-57 ; Медицинская генетика; Том 22, № 11 (2023); 47-57 ; 2073-7998

مصطلحات موضوعية: высокопроизводительное секвенирование, gene fusions, 5’/3’ expression imbalance, gene expression markers, high throughput sequencing, химерные гены, 5’/3’ дисбаланс экспрессии, экспрессионные маркеры

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2374/1753; Pellegriti G., Frasca F., Regalbuto C., et al. Worldwide increasing incidence of thyroid cancer: update on epidemiology and risk factors. J Cancer Epidemiol. 2013;2013:965212. doi:10.1155/2013/965212.; Vigneri R., Malandrino P., Vigneri P. The changing epidemiology of thyroid cancer: why is incidence increasing? Curr Opin Oncol. 2015;27(1):1-7. doi:10.1097/CCO.0000000000000148.; Cooper D.S., Doherty G.M., Haugen B.R., et al. American Thyroid Association (ATA) Guidelines Taskforce on Thyroid Nodules and Differentiated Thyroid Cancer. Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid 2009;19:1167–214.; Pacini F., Castagna M.G., Brilli L., Pentheroudakis G., ESMO Guidelines Working Group. Thyroid cancer: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2012;23(Suppl.7):vii110–9.; Kebebew E., Greenspan F.S., Clark O.H., et al. Anaplastic thyroid carcinoma. Treatment outcome and prognostic factors. Cancer. 2005;103(7):1330-5.; Wendler J., Kroiss M., Gast K., et al. Clinical presentation, treatment and outcome of anaplastic thyroid carcinoma: results of a multicenter study in Germany. Eur J Endocrinol. 2016;175(6):521-529.; Bongiovanni M., Spitale A., Faquin W.C., et al. The Bethesda system for reporting thyroid cytopathology: A meta-analysis. Acta Cytol. 2012;56(4):333-339. doi:10.1159/000339959.; Panebianco F., Nikitski A.V., Nikiforova M.N., et al. Characterization of thyroid cancer driven by known and novel ALK fusions. Endocr Relat Cancer. 2019;26(11):803-814. doi:10.1530/ERC-190325.; Doebele R.C., Drilon A., Paz-Ares L., et al. Entrectinib in patients with advanced or metastatic NTRK fusion-positive solid tumours: integrated analysis of three phase 1-2 trials. Lancet Oncol 2020;21:271-282; National Comprehensive Cancer Network. Thyroid Carcinoma (Version 1.2023). http://www.nccn.org/professionals/physician_gls/pdf/bone.pdf.; Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014; 159(3):676690.; Zehir A., Benayed R., Shah R.H., et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nature Medicine. 2017; 23(6): 703–713.; Rivera M., Ricarte-Filho J., Knauf J., et al. Molecular genotyping of papillary thyroid carcinoma follicular variant according to its histological subtypes (encapsulated vs infiltrative) reveals distinct BRAF and RAS mutation patterns. Mod Pathol. 2010; 23(9):1191–200.; Armstrong M.J., Yang H., Yip L., Ohori N.P., et al. PAX8/PPARγ rearrangement in thyroid nodules predicts follicular-pattern carcinomas, in particular the encapsulated follicular variant of papillary carcinoma. Thyroid. 2014; 24:1369–74.; Nikiforova M.N., Biddinger P.W., Caudill C.M., et al. PAX8-PPARgamma rearrangement in thyroid tumors: RT-PCR and immunohistochemical analyses. Am J Surg Pathol. 2002; 26(8):1016-23.; Ohori N.P., Wolfe J., Hodak S.P., et al. “Colloid-rich” follicular neoplasm/suspicious for follicular neoplasm thyroid fine-needle aspiration specimens: cytologic, histologic, and molecular basis for considering an alternate view. Cancer Cytopathol. 2013; 121(12):718-28.; Landa I., Ibrahimpasic T., Boucai L., et al. Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest. 2016; 126(3):1052-66.; Michuda J., Park B.H., Cummings A.L., et al. Use of clinical RNA-sequencing in the detection of actionable fusions compared to DNA-sequencing alone. Journal of Clinical Oncology 2022; 40:16(suppl): 3077.; Marchiò C., Scaltriti M., Ladanyi M., et al. ESMO recommendations on the standard methods to detect NTRK fusions in daily practice and clinical research. Ann Oncol. 2019;30(9):1417-1427. doi:10.1093/annonc/mdz204.; https://www.medgen-journal.ru/jour/article/view/2374

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2374
https://doi.org/10.25557/2073-7998.2023.11.47-57

المؤلفون: V. D. Yakushina, T. F. Avdeeva, T. P. Kazubskaya, T. T. Kondrat’Ieva, L. V. Lerner, A. V. Lavrov, В. Д. Якушина, Т. Ф. Авдеева, Т. П. Казубская, Т. Т. Кондратьева, Л. В. Лернер, А. В. Лавров

المصدر: Medical Genetics; Том 20, № 5 (2021); 48-54 ; Медицинская генетика; Том 20, № 5 (2021); 48-54 ; 2073-7998

مصطلحات موضوعية: дифференциальная диагностика, mutations, rearrangements, targeted high-throughput sequencing, differential diagnostics, мутации, перестройки, таргетное высокопроизводительное секвенирование

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1912/1492; Sanabria A., Kowalski L.P., Shah J.P., et al. Growing incidence of thyroid carcinoma in recent years: Factors underlying overdiagnosis. Head Neck 2018;40:855-66. doi:10.1002/hed.25029; Haugen B.R., Alexander E.K., Bible K.C., et al. 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid. 2016;26(1):1-133. doi:10.1089/thy.2015.0020; Cibas E.S., Ali S.Z. The 2017 Bethesda System for Reporting Thyroid Cytopathology. Thyroid. 2017;27(11):1341-1346. doi:10.1089/thy.2017.0500; Rogers W.A., Craig W.L., Entwistle V.A. Ethical issues raised by thyroid cancer overdiagnosis: A matter for public health?. Bioethics. 2017;31(8):590-598. doi:10.1111/bioe.12383; Rahman S.T., McLeod D.S.A., Pandeya N., et al. Understanding Pathways to the Diagnosis of Thyroid Cancer: Are There Ways We Can Reduce Over-Diagnosis?. Thyroid. 2019;29(3):341-348. doi:10.1089/thy.2018.0570; Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014;159(3):676-690. doi:10.1016/j.cell.2014.09.050; Kasaian K., Wiseman S.M., Walker B.A. et al. The genomic and transcriptomic landscape of anaplastic thyroid cancer: implications for therapy. BMC Cancer. 2015;15:984. Published 2015 Dec 18. doi:10.1186/s12885-015-1955-9; Kunstman J.W., Juhlin C.C., Goh G., et al. Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Hum Mol Genet. 2015;24(8):2318-2329. doi:10.1093/hmg/ddu749; Landa I., Ibrahimpasic T., Boucai L., et al. Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest. 2016;126(3):1052-1066. doi:10.1172/JCI85271; Swierniak M., Pfeifer A., Stokowy T., et al. Somatic mutation profiling of follicular thyroid cancer by next generation sequencing. Mol Cell Endocrinol. 2016;433:130-137. doi:10.1016/j.mce.2016.06.007; Yoo S.K., Lee S., Kim S.J., et al. Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers. PLoS Genet. 2016;12(8):e1006239. Published 2016 Aug 5. doi:10.1371/journal.pgen.1006239; Pozdeyev N., Gay L.M., Sokol E.S., et al. Genetic Analysis of 779 Advanced Differentiated and Anaplastic Thyroid Cancers. Clin Cancer Res. 2018;24(13):3059-3068. doi:10.1158/1078-0432.CCR-18-0373; Li H., Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010; 26: 589-595.; Van der Auwera G.A., Carneiro M.O., Hartl C., et al. From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43(1110):11.10.1-11.10.33. doi:10.1002/0471250953.bi1110s43; Boeva V., Popova T., Lienard M., et al. Multi-factor data normalization enables the detection of copy number aberrations in amplicon sequencing data. Bioinformatics. 2014;30(24):3443-3450. doi:10.1093/bioinformatics/btu436; Li M.M., Datto M., Duncavage E.J., et al. Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists. J Mol Diagn. 2017;19(1):4-23. doi:10.1016/j.jmoldx.2016.10.002; Paschke R., Cantara S., Crescenzi A., et al. European Thyroid Association Guidelines regarding Thyroid Nodule Molecular Fine-Needle Aspiration Cytology Diagnostics. Eur Thyroid J. 2017;6(3):115-129. doi:10.1159/000468519; Melo M., da Rocha A.G., Vinagre J., et al. TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J Clin Endocrinol Metab 2014;99:E754-65. doi:10.1210/jc.2013-3734; Bournaud C., Descotes F., Decaussin-Petrucci M., et al. TERT promoter mutations identify a high-risk group in metastasis-free advanced thyroid carcinoma. Eur J Cancer. 2019;108:41-49. doi:10.1016/j.ejca.2018.12.003; Karunamurthy A., Panebianco F., Hsiao S.J., et al. Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules. Endocr Relat Cancer. 2016;23(4):295-301. doi:10.1530/ERC-16-0043; https://www.medgen-journal.ru/jour/article/view/1912

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1912
https://doi.org/10.25557/2073-7998.2021.05.48-54

المؤلفون: K N, Kazeev, V N, Demidov, A I, Bukhman, A M, Artemova, T F, Avdeeva

المصدر: Klinicheskaia meditsina. 69(3)

مصطلحات موضوعية: Diagnosis, Differential, Pregnancy, Adrenal Gland Neoplasms, Humans, Female, Pheochromocytoma, Pregnancy Complications, Neoplastic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::28be6e9a4b881ade69045e6940a5f5da
https://pubmed.ncbi.nlm.nih.gov/2067347

المؤلفون: V N, Demidov, K N, Kazeev, E N, Bazarova, L V, Kuratev, T F, Avdeeva

المصدر: Sovetskaia meditsina. (2)

مصطلحات موضوعية: Diagnosis, Differential, Adrenocortical Hyperfunction, Adrenal Hyperplasia, Congenital, Evaluation Studies as Topic, Adrenal Gland Neoplasms, Humans, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5d6fd4235bb4de46f031a98e03b45b18
https://pubmed.ncbi.nlm.nih.gov/3518076

المؤلفون: V N, Demidov, K N, Kazeev, E N, Bazarova, T F, Avdeeva

المصدر: Sovetskaia meditsina. (4)

مصطلحات موضوعية: Adult, Diagnosis, Differential, Adolescent, Child, Preschool, Adrenal Gland Neoplasms, Humans, Pheochromocytoma, Middle Aged, Child, Aldosterone, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3e2a47dad2a24e51e0ae7b8c74f55b28
https://pubmed.ncbi.nlm.nih.gov/6867828

المؤلفون: O E, Ozerova, E N, Bazarova, V N, Demidov, T F, Avdeeva, I B, Lazarevich

المصدر: Klinicheskaia meditsina. 64(2)

مصطلحات موضوعية: Adult, Diagnosis, Differential, Adolescent, Thyroid Gland, Humans, Thyroid Neoplasms, Middle Aged, Thyroid Diseases, Aged, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::78d912cbae1d8e379e136d5371384b92
https://pubmed.ncbi.nlm.nih.gov/3517476

المؤلفون: V N, Demidov, K N, Kazeev, E N, Bazarova, L V, Kuratev, T F, Avdeeva

المصدر: Terapevticheskii arkhiv. 60(7)

مصطلحات موضوعية: Adult, Diagnosis, Differential, Adolescent, Adrenal Cortex, Humans, Middle Aged, Corticosterone, Adrenal Cortex Neoplasms, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::909df58f976e6167d5adf3c1be8be060
https://pubmed.ncbi.nlm.nih.gov/3062842

المؤلفون: V N, Demidov, K N, Kazeev, L V, Kuratev, E N, Bazarova, T F, Avdeeva

المصدر: Terapevticheskii arkhiv. 57(9)

مصطلحات موضوعية: Adult, Adrenocortical Hyperfunction, Adolescent, Hyperaldosteronism, Adrenal Gland Neoplasms, Humans, Diagnostic Errors, Middle Aged, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::316daec22aea724dbced214372e500af
https://pubmed.ncbi.nlm.nih.gov/3909477

المؤلفون: V N, Demidov, K N, Kazeev, T F, Avdeeva

المصدر: Terapevticheskii arkhiv. 59(11)

مصطلحات موضوعية: Adult, Adolescent, Urinary Bladder Neoplasms, Nervous System Neoplasms, Humans, Pheochromocytoma, Middle Aged, Child, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::cb0e17c688bcc2ac548c58bd8c2e9767
https://pubmed.ncbi.nlm.nih.gov/3327184

المؤلفون: K N, Kazeev, V N, Demidov, T F, Avdeeva

المصدر: Terapevticheskii arkhiv. 55(10)

مصطلحات موضوعية: Adult, Adolescent, Adrenal Gland Neoplasms, Humans, Pheochromocytoma, Middle Aged, Child, Ultrasonography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::aa2f24409fe50b1d1e869f7971ce7a39
https://pubmed.ncbi.nlm.nih.gov/6359521