OPTIMIZATION OF THE METHOD OF THE MULTI-TARGET SINGLE-BASE ELONGATION FOR THE DETECTION OF SOMATIC MUTATIONS IN MALIGNANCIES
- Authors: Musaelyan A.A1, Chistyakov I.V1, Nazarov V.D1, Lapin S.V1, Sogoyan M.V1, Khalchitsky S.E2, Emanuel W.L1, Lobachevskaya T.W1, Akopov A.L1
-
Affiliations:
- I.P. Pavlov First Saint-Petersburg State Medical University
- Turner Scientific Research Institute for Children’s Orthopedics
- Issue: Vol 17, No 2 (2019)
- Pages: 44-49
- Section: Articles
- URL: https://journals.eco-vector.com/1728-2918/article/view/113064
- DOI: https://doi.org/10.29296/24999490-2019-01-06
- ID: 113064
Cite item
Abstract
Full Text
About the authors
A. A Musaelyan
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
I. V Chistyakov
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
V. D Nazarov
I.P. Pavlov First Saint-Petersburg State Medical University
Email: nazarov19932@mail.ru
Saint Petersburg, Russian Federation
S. V Lapin
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
M. V Sogoyan
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
S. E Khalchitsky
Turner Scientific Research Institute for Children’s OrthopedicsSaint Petersburg, Russian Federation
W. L Emanuel
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
T. W Lobachevskaya
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
A. L Akopov
I.P. Pavlov First Saint-Petersburg State Medical UniversitySaint Petersburg, Russian Federation
References
- Srinivasan M., Sedmak D., Jewell S. Effect of fixatives and tissue processing on the content and integrity of nucleic acids. Am. J. Pathol. 2002. https://doi.org/10.1016/ S0002-9440(10)64472-0.
- Gerlinger M., Rowan A.J., Horswell S., Larkin J., Endesfelder D., Gronroos E. et al. Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing. N. Engl. J. Med. 2012. https:// doi.org/10.1056/NEJMoa1113205.
- Dias-Santagata D., Akhavanfard S., David S.S., Vernovsky K., Kuhlmann G., Boisvert S.L. et al. Rapid targeted mutational analysis of human tumours: A clinical platform to guide personalized cancer medicine. EmBo Mol. Med. 2010. https://doi. org/10.1002/emmm.201000070.
- Lovly C.M., Dahlman K.B., Fohn L.E., Su Z., Dias-Santagata D., Hicks D.J. et al. Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. PLoS One. 2012. https:// doi.org/10.1371/journal.pone.0035309.
- Sequist L.V, Heist R.S., Shaw A.T., Fidias P., Rosovsky R., Temel J.S. et al. Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. Ann Oncol. 2011. https://doi.org/10.1093/ annonc/mdr489.
- Cernomaz A.T., Macovei I.I., Pavel I., Grigoriu C., Marinca M., Baty F et al. Comparison of next generation sequencing, SNaPshot assay and real-time polymerase chain reaction for lung adenocarcinoma EGFR mutation assessment. BMC Pulm Med. 2016; 16. https:// doi.org/10.1186/s12890-016-0250-0.
- Zhao Y., Zhang X.-Y., Guo J.-J., Zeng A.-Z., Hu J.-L., Huang W-X. et al. Simultaneous Genotyping and Quantification of Hepatitis B Virus for Genotypes B and C by Real-Time PCR Assay J. Clin. Microbiol. 2010; 48: 3690 LP-3697.
- Jakobsen M.R., Tolstrup M., Søgaard O.S., Jørgensen L.B., Gorry P.R., Laursen A. et al. Transmission of HIV-1 Drug-Resistant Variants: Prevalence and Effect on Treatment Outcome. Clin Infect Dis. 2010. https://doi. org/10.1086/650001.
- Li Q., Yang F, Liu R., Luo L., Yang Y, Zhang L. et al. Prevalence and molecular characterization of glucose-6-phosphate dehydrogenase deficiency at the China-Myanmar border. PLoS One. 2015. https:// doi.org/10.1371/journal.pone.0134593.
- Chen Y, Liu Y, Wang B., Mao J., Wang T., Ye K. et al. Development and validation of a fetal genotyping assay with potential for noninvasive prenatal diagnosis of hereditary hearing loss. Prenat Diagn. 2016. https://doi.org/10.1002/pd.4962.
- Palacajornsuk P., Halter C., Isakova V., Tarnawski M., Farmar J., Reid M.E. et al. Detection of blood group genes using multiplex SNaPshot method. Transfusion. 2009. https:// doi.org/10.1111/j.1537-2995.2008.02053.x.
- Mehta B., Daniel R., Phillips C., McNevin D. Forensically relevant SNaPshot® assays for human DNA SNP analysis: a review. Int J. Legal Med. 2017. https://doi.org/10.1007/ s00414-016-1490-5.
- van Oers J.M.M., Lurkin I., van Exsel A.J.A., Nijsen Y, van Rhijn B.W.G., van der Aa M.N.M. et al. A simple and fast method for the simultaneous detection of nine fibroblast growth factor receptor 3 mutations in bladder cancer and voided urine. Clin. Cancer Res. 2005. https://doi. org/10.1158/1078-0432.CCR-05-1045.
- Smith D.L., Lamy A., Beaudenon-Huibregtse S., Sesboüé R., Laosinchai-Wolf W., Sabourin J.C. et al. A multiplex technology platform for the rapid analysis of clinically actionable genetic alterations and validation for BRAF p.V600E detection in 1549 cytologic and histologic specimens. Arch Pathol Lab Med. 2014. https://doi.org/10.5858/ arpa.2013-0002-OA.
- Кушлинский Н.Е., Герштейн Е.С., Овчинникова Л.К., Дигаева М.А., Воротников И.К., Давыдов М.И. Биологические маркеры опухолей в клинике - достижения, проблемы, перспективы. Российский био-терапевтический журнал. 2009; 3.
- Su Z., Dias-Santagata D., Duke M., Hutchinson K., Lin Y.L., Borger D.R. et al. A platform for rapid detection of multiple oncogenic mutations with relevance to targeted therapy in non-small-cell lung cancer. J. Mol. Diagnostics. 2011; 13: 74-84. https:// doi.org/10.1016/j.jmoldx.2010.11.010.
- Kawamura T., Kenmotsu H., Omori S., Nakashima K., Wakuda K., Ono A. et al. Clinical Factors Predicting Detection of T790M Mutation in Rebiopsy for EGFR-Mutant Non-small-cell Lung Cancer. Clin. Lung Cancer. 2018; 19: 247-52. https://doi. org/10.1016/j.cllc.2017.07.002.
- Lavdovskaia E.D., Iyevleva A.G., Sokolenko A.P., Mitiushkina N.V, Preobrazhenskaya E.V., Tiurin VI. et al. EGFR T790M Mutation in TKI-Naive Clinical Samples: Frequency, Tissue Mosaicism, Predictive Value and Awareness on Artifacts. Oncol Res Treat. 2018; 41. ht-tps://doi.org/10.1159/000491441.
- Perizzolo M., Winkfein B., Hui S., Krulicki W., Chan J.A., Demetrick D.J. IDH mutation detection in formalin-fixed paraffin-embedded gliomas using multiplex PCR and singlebase extension. Brain Pathol. 2012. https:// doi.org/10.1111/j.1750-3639.2012.00579.x.