المؤلفون: V. I. Loginov, M. S. Gubenko, A. M. Burdennyy, I. V. Pronina, P. V. Postnikov, Yu. A. Efimova, F. V. Radus, E. S. Mochalova, T. P. Kazubskaya, В. И. Логинов, М. С. Губенко, А. М. Бурденный, И. В. Пронина, П. В. Постников, Ю. А. Ефимова, Ф. В. Радус, Е. С. Мочалова, Т. П. Казубская

المساهمون: The work was supported by the Scientific Research Program for 2023–2025 No. FGFU-2023-0001., Работа выполнена при поддержке Программы научных исследований 2023–2025 № FGFU-2023-0001.

المصدر: Fine Chemical Technologies; Vol 19, No 3 (2024); 232-239 ; Тонкие химические технологии; Vol 19, No 3 (2024); 232-239 ; 2686-7575 ; 2410-6593

مصطلحات موضوعية: немелкоклеточный рак легкого, methylation, panel of markers, non-small cell lung cancer, метилирование, панель маркеров

وصف الملف: application/pdf

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الاتاحة: https://www.finechem-mirea.ru/jour/article/view/2087
https://doi.org/10.32362/2410-6593-2024-19-3-232-239

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: T. S. Belysheva, T. V. Nasedkina, T. T. Valiev, N. V. Matinyan, O. A. Malikhova, V. V. Semenova, V. M. Kozlova, T. P. Kazubskaya, Y. V. Vishnevskaya, S. N. Mikhailova, S. R. Varfolomeeva, Т. С. Белышева, Т. В. Наседкина, Т. Т. Валиев, Н. В. Матинян, О. А. Малихова, В. В. Семенова, В. М. Козлова, Т. П. Казубская, Я. В. Вишневская, С. Н. Михайлова, С. Р. Варфоломеева

المصدر: Russian Journal of Pediatric Hematology and Oncology; Том 8, № 4 (2021); 95-102 ; Российский журнал детской гематологии и онкологии (РЖДГиО); Том 8, № 4 (2021); 95-102 ; 2413-5496 ; 2311-1267

مصطلحات موضوعية: диагностика, polyposis, hyperpigmentation, diagnostics, полипы, гиперпигментация

وصف الملف: application/pdf

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The Management of Peutz–Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline. J Clin Med. 2021;10(3):473. doi:10.3390/jcm10030473. PMID:33513864.; Tomlinson I.P., Houlston R.S. Peutz–Jeghers syndrome. J Med Genet. 1997;34(12):1007–11. doi:10.1136/jmg.34.12.1007. PMID:9429144.; Aaltonen L.A., Jarvinen H., Gruber S.B., Billaud M., Jass J.R. Tumours of the small intestine: Peutz–Jeghers syndrome. In World Health Organization Classification of Tumours: Pathology and Genetics. Tumours of the Digestive System. IARC Press: Lyon, France, 2000.; Beggs A.D., Latchford A.R., Vasen H.F., Moslein G., Alonso A., Aretz S., Bertario L., Blanco I., Bülow S., Burn J., Capella G., Colas C., Friedl W., Møller P., Hes F.J., Järvinen H., Mecklin J.P., Nagengast F.M., Parc Y., Phillips R.K., Hyer W., Ponz de Leon M., Renkonen-Sinisalo L., Sampson J.R., Stormorken A., Tejpar S., Thomas H.J., Wijnen J.T., Clark S.K., Hodgson S.V. Peutz–Jeghers syndrome: a systematic review and recommendations for management. Gut. 2010;59(7):975–86. doi:10.1136/gut.2009.198499. PMID:20581245.; McGarrity T.J., Amos C. Peutz–Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci. 2006;63(18):2135–44. doi:10.1007/s00018-006-6080-0. PMID:16952058.; Traboulsi E.I., Maumenee I.H. Periocular pigmentation in the Peutz–Jeghers syndrome. Am J Ophthalmol. 1986;102(1):126–7. doi:10.1016/0002-9394(86)90229-1. PMID:3728618.; Jeghers H., McKusick V.A., Katz K.H. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic signifi cance. N Engl J Med. 1949;241(26):1031–6. doi:10.1056/NEJM194912292412601. PMID:15398245.; Цветкова Г.М., Мордовцева В.В., Вавилов А.М., Мордовцев В.Н. Патоморфология болезней кожи: Руководство для врачей. М.: Медицина, 2003. С. 320.; Sarkozy A., Conti E., Digilio M.C., Marino B., Morini E., Pacileo G., Wilson M., Calabrò R., Pizzuti A., Dallapiccola B. Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet. 2004;41(5):e68. doi:10.1136/jmg.2003.013466. PMID:15121796.; Lampe A.K., Hampton P.J., Woodford-Richens K., Tomlinson I., Lawrence C.M., Douglas F.S. Laugier–Hunziker syndrome: an important differential diagnosis for Peutz–Jeghers syndrome. J Med Genet. 2003;40(6):e77. doi:10.1136/jmg.40.6.e77. PMID:12807976.; Kopacova M., Tacheci I., Rejchrt S., Bures J. Peutz–Jeghers syndrome: diagnostic and therapeutic approach. World J Gastroenterol. 2009;15(43):5397–408. doi:10.3748/wjg.15.5397. PMID:19916169.; Goldstein S.A., Hoffenberg E.J. Peutz–Jeghers syndrome in childhood: need for updated recommendations? J Pediatr Gastroenterol Nutr. 2013;56(2):191–5. doi:10.1097/MPG.0b013e318271643c. PMID:23325439.; Hinds R., Philp C., Hyer W., Fell J.M. Complications of childhood Peutz–Jeghers syndrome: implications for pediatric screening. J Pediatr Gastroenterol Nutr. 2004;39(2):219–20. doi:10.1097/00005176-200408000-00027. PMID:15269641.; van Lier M.G., Mathus-Vliegen E.M., Wagner A., van Leerdam M.E., Kuipers E.J. High cumulative risk of intussusception in patients with Peutz–Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol. 2011;106(5):940–5. doi:10.1038/ajg.2010.473.; Hearle N., Schumacher V., Menko F.H., Olschwang S., Boardman L.A., Gille J.J., Keller J.J., Westerman A.M., Scott R.J., Lim W., Trimbath J.D., Giardiello F.M., Gruber S.B., Offerhaus G.J., de Rooij F.W., Wilson J.H., Hansmann A., Möslein G., Royer-Pokora B., Vogel T., Phillips R.K., Spigelman A.D., Houlston R.S. Frequency and spectrum of cancers in the Peutz–Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209–15. doi:10.1158/1078-0432.CCR-06-0083. 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PMID:11039077.; Zheng Z., Xu R., Yin J., Cai J., Chen G.Y., Zhang J., Zhang Z.T. Malignant tumors associated with Peutz–Jeghers syndrome: Five cases from a single surgical unit. World J Clin Cases. 2020;8(2):264–75. doi:10.12998/wjcc.v8.i2.264. PMID:32047774.; Ylikorkala A., Avizienyte E., Tomlinson I.P., Tiainen M., Roth S., Loukola A., Hemminki A., Johansson M., Sistonen P., Markie D., Neale K., Phillips R., Zauber P., Twama T., Sampson J., Järvinen H., Mäkelä T.P., Aaltonen L.A. Mutations and impaired function of LKB1 in familial and non-familial Peutz–Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet. 1999;8(1):45–51. doi:10.1093/hmg/8.1.45. PMID:9887330.; Amos C.I., Keitheri-Cheteri M.B., Sabripour M., Wei C., McGarrity T.J., Seldin M.F., Nations L., Lynch P.M., Fidder H.H., Friedman E., Frazier M.L. Genotype-phenotype correlations in Peutz–Jeghers syndrome. J Med Genet. 2004;41(5):327–33. doi:10.1136/jmg.2003.010900. 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الاتاحة: https://journal.nodgo.org/jour/article/view/777
https://doi.org/10.21682/2311-1267-2021-8-4-95-102

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

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

المؤلفون: D. A. Ryabchicov, I. A. Dudina, I. K. Vorotnikov, O. A. Talipov, K. S. Titov, D. A. Denchik, T. P. Kazubskaya, A. M. Burdennyy, V. I. Loginov, Д. А. Рябчиков, И. А. Дудина, И. К. Воротников, О. А. Талипов, К. С. Титов, Д. А. Денчик, Т. П. Казубская, А. М. Бурденный, В. И. Логинов

المساهمون: Работа выполнена при поддержке Российского Научного Фонда – Проект №14 15 00654.

المصدر: Malignant tumours; Том 8, № 1 (2018); 5-11 ; Злокачественные опухоли; Том 8, № 1 (2018); 5-11 ; 2587-6813 ; 2224-5057

مصطلحات موضوعية: канцерогенез, breast cancer, methylation, oncogenesis, рак молочной железы, метилирование

وصف الملف: application/pdf

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الاتاحة: https://www.malignanttumors.org/jour/article/view/490
https://doi.org/10.18027/2224-5057-2018-8-1-5-11

المؤلفون: V. I. Loginov, E. V. Beresneva, T. R. Kazubskaya, E. A. Braga, A. V. Karpukhin, В. И. Логинов, Е. В. Береснева, Т. П. Казубская, Э. А. Брага, А. В. Карпухин

المصدر: Cancer Urology; Том 13, № 3 (2017); 27-33 ; Онкоурология; Том 13, № 3 (2017); 27-33 ; 1996-1812 ; 1726-9776 ; 10.17650/1726-9776-2017-13-3

مصطلحات موضوعية: система маркеров, methylation, microRNA gene, metastasis, marker system, метилирование, ген микроРНК, метастазирование

وصف الملف: application/pdf

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MicroRNA epigenetic signatures in human disease. Arch Toxicol 2016;90(10):2405–19. DOI:10.1007/s00204-016-1815-7. PMID: 27557899.; Baylin S. B., Jones P. A. Epigenetic determinants of cancer. Cold Spring Harb Perspect Biol 2016;8(9):a019505. DOI:10.1101/cshperspect.a019505. PMID: 27194046.; Рыков С. В., Ходырев Д. С., Пронина И. В. и др. Новые гены микроРНК, подверженные метилированию в опухолях легкого. Генетика 2013;49(7):896–901. [Rykov S. V., Khodyrev D. S., Pronina I. V. et al. Novel miRNA genes methylated in lung tumors. Genetika = Genetics 2013;49(7):896–901. (In Russ.)]. DOI:10.7868/S0016675813070114.; Логинов В. И., Бурденный А. М., Пронина И. В. и др. Идентификация новых генов микроРНК, гиперметилированных при раке молочной железы. Молекулярная биология 2016;50(5): 797–802. [Loginov V. I., Burdennyy A. M., Pronina I. V. et al. Novel miRNA genes hypermethylated in breast cancer. Molekulyarnaya biologiya = Molecular Biology 2016;50(5):797–802. (In Russ.)]. 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الاتاحة: https://oncourology.abvpress.ru/oncur/article/view/696
https://doi.org/10.17650/1726-9776-2017-13-3-27-33