MOLECULAR DIAGNOSTICS IN ONCOLOGY



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Abstract

Molecular diagnostics has become an indispensable part of modern clinical oncology. Most often, molecular tests are used to examine patients suffering from neoplasia of the reproductive organs, lung, colon, and skin. The detection of hereditary defects in the BRCA1 and BRCA2 genes is now a routine in examining females who have breast and ovary carcinomas. Besides discovering patient’s healthy relatives who bear BRCA 1/2 mutations, the objectives of such examination include modifying the regimens of treatment of already diagnosed tumors. The discovery of mutations in the receptor tyrosine kinases EGFR and ALK led to tremendous progress in treating lung cancer: for the first time in oncology the newly developed tests allow to personalise therapy at a virtually 100% confidence. Many publications address the issue of improving the methods of molecular genetic monitoring of tumor cell clones based on testing the physiological and pathological liquids of human body. Of interest are studies of the usability of DNA and RNA markers for the differential diagnostics of tumors whose primary sites are unknown. Molecular diagnostic is currently being revolutionized by the introduction of whole genome sequencing techniques. A significant expansion of the range of DNA and RNA tests used in clinical practice may be expected in the nearest future.

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About the authors

E N Imyanitov

N. N. Petrov Institute of Oncology

Email: evgeny@imyanitov.spb.ru
St. Petersburg, Russia

References

  1. Имянитов Е. Н., Хансон К. П. Молекулярная онкология: клинические аспекты.- СПб.: ИД СПбМАПО, 2007.- 214 с.
  2. Киселев Ф.Л., Имянитов Е. Н., Киселева Н. П., Левина Е. С. Молекулярная онкология: от вирусной теории к лечению рака.- М.: ГЕОС, 2013.- 152 с.
  3. Имянитов Е. Н. Общие представления о наследственных опухолевых синдромах // Практ. онкол.- 2014.- Т. 15, № 3.- С. 101-106.
  4. Alix-Panabieres C., Pantel K. Clinical Applications of Circulating Tumor Cells and Circulating Tumor DNA as Liquid Biopsy // Cancer Discov.- 2016 (in press).
  5. Pavlidis N., Khaled H., Gaafar R. A mini review on cancer of unknown primary site: a clinical puzzle for the oncologists // J. Adv. Res.- 2015.- Vol. 6, № 3.- P. 375-382.
  6. Greaves M. Cancer causation: the Darwinian downside of past success? // Lancet Oncol.- 2002.- Vol. 3, № 4.- P. 244-251.
  7. Имянитов Е. Н. Молекулярная диагностика в онкологии // Вопр. онкол.- 2012.- Т. 58, № 2.- С. 153-163.
  8. Kuligina E.Sh, Sokolenko A. Р., Mitiushkina N. V. et al. Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation // Fam. Cancer.- 2013.- Vol. 12, № 1.- P. 129-132.
  9. Sokolenko A. Р., Suspitsin E.N., Kuligina E.Sh. et al. Identification of novel hereditary cancer genes by whole exome sequencing // Cancer Lett.- 2015.- Vol. 369, № 2.- P. 274-288.
  10. Kurian A. W. BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications // Curr. Opin. Obstet. Gynecol.- 2010.- Vol. 22, № 1.- P. 72-78.
  11. Соколенко А. П., Иевлева А. Г., Митюшкина Н. В. и др. Синдром наследственного рака молочной железы и яичников в Российской Федерации // Acta Naturae.- 2010.- Т. 2, № 7.- С. 53-57.
  12. Imyanitov E. N., Moiseyenko V. M. Drug therapy for hereditary cancers // Hered. Cancer. Clin. Pract.- 2011.- Vol. 9, № 1.- P. 5.
  13. Chapman P.B., Hauschild A., Robert C. et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation // N. Engl. J. Med.- 2011.- Vol. 364, № 26.- P. 2507-2516.
  14. Moiseyenko V. M., Dolmatov G. D., Moiseyenko F. V. et al. High efficacy of cisplatin neoadjuvant therapy in a prospective series of patients carrying BRCA1 germ-line mutation // Med. Oncol.- 2015.- Vol. 32, № 4.- P. 514.
  15. Silver D. Р., Richardson A. L., Eklund A. C. et al. Efficacy of neoadjuvant Cisplatin in triple-negative breast cancer // J. Clin. Oncol.- 2010.- Vol. 28, № 7.- P. 1145-1153.
  16. Moiseyenko V. M., Chubenko V. A., Moiseyenko F. V. et al. Evidence for clinical efficacy of mitomycin C in heavily pretreated ovarian cancer patients carrying germ-line BRCA1 mutation // Med. Oncol.- 2014.- Vol. 31.- P. 199-205.
  17. Edwards S. L., Brough R., Lord C. J. et al. Resistance to therapy caused by intragenic deletion in BRCA2 // Nature.- 2008.- Vol. 451, № 7182.- P. 11111115.
  18. Martins F. C., De S., Almendro V. et al. Evolutionary pathways in BRCA1-associated breast tumors // Cancer Discov.- 2012.- Vol. 2, № 6. - P. 503-511.
  19. Gorodnova T. V., Sokolenko A. Р., Ivantsov A. O. et al. High response rates to neoadjuvant platinum-based therapy in ovarian cancer patients carrying germ-line BRCA mutation // Cancer Lett.- 2015.- Vol. 369, № 2.- P. 363-367.
  20. Lynch T. J., Bell D. W., Sordella R. et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib // N. Engl. J. Med.- 2004.- Vol. 350, № 21.- P. 2129-2139.
  21. Paez J. G., Janne P. A., Lee J. C., Tracy S., Greulich H, Gabriel S., Herman P., Kaye F. J., Lindeman N., Boggon T. J., Naoki K., Sasaki H., Fujii Y., Eck M. J., Sellers W. R., Johnson B. E., Meyerson M. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy // Science.- 2004.- Vol. 304, № 5676.- P. 1497-1500.
  22. Pao W., Miller V., Zakowski M. et al. EGF receptor gene mutations are common in lung cancers from «never smokers» and are associated with sensitivity of tumors to gefitinib and erlotinib // Proc. Natl. Acad. Sci. USA.- 2004.- Vol. 101, № 36.- P. 13306-13311.
  23. Lazebnik Y. Are scientists a workforce? - Or, how Dr. Frankenstein made biomedical research sick: A proposed plan to rescue US biomedical research from its current ‘malaise’ will not be effective as it misdiagnoses the root cause of the disease // EMBO Rep.- 2015.- Vol. 16, № 12.- P. 1592-1600.
  24. Moiseyenko V. M., Procenko S. A., Levchenko E. V. et al. High efficacy of first-line gefitinib in non-asian patients with EGFR-mutated lung adenocarcinoma // Onkologie.- 2010.- Vol. 33, № 5.- P. 231-238.
  25. Sullivan I., Planchard D. ALK inhibitors in non-small cell lung cancer: the latest evidence and developments // Ther. Adv. Med. Oncol.- 2016.- Vol. 8, № 1.- P. 32-47.
  26. Имянитов Е. Н. Выявление мутаций в гене BRAF для выбора терапии меланомы // Архив патол.- 2012.- Т. 74, №5.- С. 64-70.
  27. Tran N. H., Cavalcante L. L., Lubner S. J. et al. Precision medicine in colorectal cancer: the molecular profile alters treatment strategies // Ther. Adv. Med. Oncol.- 2015.- Vol. 7, № 5.- P. 252-262.
  28. Suzuki S., Ishida T., Yoshikawa K., Ueda R. Current status of immunotherapy // Jpn. J. Clin. Oncol.- 2016.- Vol. 46, № 3.- P. 191-203.
  29. Le D. T., Uram J.N., Wang H. et al. PD-1 Blockade in Tumors with Mismatch-Repair Deficiency // N. Engl. J. Med.- 2015.- Vol. 372, № 26.- P. 2509-2520.
  30. Wilt T. J., Dahm P. PSA Screening for Prostate Cancer: Why Saying No is a High-Value Health Care Choice // J. Natl. Compr. Canc. Netw.- 2015.- Vol. 13, № 12.- P. 1566-1574.
  31. Antonarakis E. S., Lu C., Wang H. et al. AR-V7 and resistance to enzalutamide and abiraterone in prostate cancer // N. Engl. J. Med.- 2014.- Vol. 371, № 11.- P 1028-1038.
  32. Imamura F., Uchida J., Kukita Y. et al. Monitoring of treatment responses and clonal evolution of tumor cells by circulating tumor DNA of heterogeneous mutant EGFR genes in lung cancer // Lung Cancer.- 2016.- Vol. 94.- P. 68-73.
  33. Имянитов Е. Н. Спорные аспекты фундаментальной онкологии // Практ. онкол.- 2014.- Т. 15, № 2.- С. 49-60.
  34. Jamuar S. S., Tan E. C. Clinical application of next-generation sequencing for Mendelian diseases // Hum. Genomics.- 2015.- Vol. 9.- P. 10.
  35. MacConaillL. E. Existing and emerging technologies for tumor genomic profiling // J. Clin. Oncol.- 2013.- Vol. 31, № 15.- P. 1815-1824.

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