Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction
Aim: To evaluate real-time polymerase chain reaction (PCR) assay system for detection of NOTCH1 c.7541_754delCT mutation in chronic lymphocytic leukemia (CLL) patients. Material and Methods: A total of 325 CLL patients were included in the study. Screening for NOTCH1 c.7544_7545delCT was performed u...
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| Published in: | Experimental Oncology |
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| Date: | 2016 |
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| Format: | Article |
| Language: | English |
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Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України
2016
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| Online Access: | https://nasplib.isofts.kiev.ua/handle/123456789/138001 |
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| Journal Title: | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| Cite this: | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction / N.I. Bilous, I.V. Abramenko, A.A. Chumak, I.S. Dyagil, Z.V. Martina // Experimental Oncology. — 2016 — Т. 38, № 2. — С. 112–116. — Бібліогр.: 28 назв. — англ. |
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Digital Library of Periodicals of National Academy of Sciences of Ukraine| _version_ | 1862607963334639616 |
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| author | Bilous, N.I. Abramenko, I.V. Chumak, A.A. Dyagil, I.S. Martina, Z.V. |
| author_facet | Bilous, N.I. Abramenko, I.V. Chumak, A.A. Dyagil, I.S. Martina, Z.V. |
| citation_txt | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction / N.I. Bilous, I.V. Abramenko, A.A. Chumak, I.S. Dyagil, Z.V. Martina // Experimental Oncology. — 2016 — Т. 38, № 2. — С. 112–116. — Бібліогр.: 28 назв. — англ. |
| collection | DSpace DC |
| container_title | Experimental Oncology |
| description | Aim: To evaluate real-time polymerase chain reaction (PCR) assay system for detection of NOTCH1 c.7541_754delCT mutation in chronic lymphocytic leukemia (CLL) patients. Material and Methods: A total of 325 CLL patients were included in the study. Screening for NOTCH1 c.7544_7545delCT was performed using conventional PCR-based amplification refractory mutation system (ARMS) method. All 33 samples harboring c.7544_7545delCT allele and 5 negative cases as control were submitted to real-time PCR. Results: Specificity and sensitivity of two PCR techniques were comparable. NOTCH1 c.7544_7545delCT mutation was found by ARMS in 10.1% of CLL patients, which is consistent with the data of other studies. However, the results of ARMS PCR in a minority of cases (2.15%) were doubtful and required reinvestigation. Real-time PCR, being less time-consuming, showed advantage in the assessment of the amplification’s specificity (using the melting curve analysis). It also allows the quantitative assessment of NOTCH1-mutated clone. Conclusion: NOTCH1 c.7544_7545delCT mutation resulting in removal of the C-terminal PEST domain, deregulation of NOTCH1-dependent signaling pathways, has negative influence on prognosis of CLL and efficiency of therapy with anti-CD20 monoclonal antibodies. Real-time PCR allows the fast and reliable detection of c.7544_7545delCT mutation and can be used for the screening of this molecular lesion in CLL patients.
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| first_indexed | 2025-11-28T15:56:50Z |
| format | Article |
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| id | nasplib_isofts_kiev_ua-123456789-138001 |
| institution | Digital Library of Periodicals of National Academy of Sciences of Ukraine |
| issn | 1812-9269 |
| language | English |
| last_indexed | 2025-11-28T15:56:50Z |
| publishDate | 2016 |
| publisher | Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України |
| record_format | dspace |
| spelling | Bilous, N.I. Abramenko, I.V. Chumak, A.A. Dyagil, I.S. Martina, Z.V. 2018-06-17T20:44:08Z 2018-06-17T20:44:08Z 2016 Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction / N.I. Bilous, I.V. Abramenko, A.A. Chumak, I.S. Dyagil, Z.V. Martina // Experimental Oncology. — 2016 — Т. 38, № 2. — С. 112–116. — Бібліогр.: 28 назв. — англ. 1812-9269 https://nasplib.isofts.kiev.ua/handle/123456789/138001 Aim: To evaluate real-time polymerase chain reaction (PCR) assay system for detection of NOTCH1 c.7541_754delCT mutation in chronic lymphocytic leukemia (CLL) patients. Material and Methods: A total of 325 CLL patients were included in the study. Screening for NOTCH1 c.7544_7545delCT was performed using conventional PCR-based amplification refractory mutation system (ARMS) method. All 33 samples harboring c.7544_7545delCT allele and 5 negative cases as control were submitted to real-time PCR. Results: Specificity and sensitivity of two PCR techniques were comparable. NOTCH1 c.7544_7545delCT mutation was found by ARMS in 10.1% of CLL patients, which is consistent with the data of other studies. However, the results of ARMS PCR in a minority of cases (2.15%) were doubtful and required reinvestigation. Real-time PCR, being less time-consuming, showed advantage in the assessment of the amplification’s specificity (using the melting curve analysis). It also allows the quantitative assessment of NOTCH1-mutated clone. Conclusion: NOTCH1 c.7544_7545delCT mutation resulting in removal of the C-terminal PEST domain, deregulation of NOTCH1-dependent signaling pathways, has negative influence on prognosis of CLL and efficiency of therapy with anti-CD20 monoclonal antibodies. Real-time PCR allows the fast and reliable detection of c.7544_7545delCT mutation and can be used for the screening of this molecular lesion in CLL patients. en Інститут експериментальної патології, онкології і радіобіології ім. Р.Є. Кавецького НАН України Experimental Oncology Original contributions Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction Article published earlier |
| spellingShingle | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction Bilous, N.I. Abramenko, I.V. Chumak, A.A. Dyagil, I.S. Martina, Z.V. Original contributions |
| title | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction |
| title_full | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction |
| title_fullStr | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction |
| title_full_unstemmed | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction |
| title_short | Detection of notch1 c.7544_7545deICT mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction |
| title_sort | detection of notch1 c.7544_7545deict mutation in chronic lymphocytic leukemia using conventional and real-time polymerase chain reaction |
| topic | Original contributions |
| topic_facet | Original contributions |
| url | https://nasplib.isofts.kiev.ua/handle/123456789/138001 |
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