Fragment analysis represents a suitable approach for the detection of hotspot c.7541_7542delCT NOTCH1 mutation in chronic lymphocytic leukemia.

Autor: Vavrova E; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic., Kantorova B; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Vonkova B; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic., Kabathova J; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Skuhrova-Francova H; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Diviskova E; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Letocha O; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Kotaskova J; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Brychtova Y; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Doubek M; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Mayer J; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic., Pospisilova S; Central European Institute of Technology (CEITEC) and Faculty of Medicine, Masaryk University, Kamenice 5, CZ-625 00 Brno, Czech Republic; Department of Internal Medicine - Hematology and Oncology, University Hospital Brno, Cernopolni 9, CZ-613 00 Brno, Czech Republic. Electronic address: sarka.pospisilova@ceitec.muni.cz.
Jazyk: angličtina
Zdroj: Leukemia research [Leuk Res] 2017 Sep; Vol. 60, pp. 145-150. Date of Electronic Publication: 2017 Aug 07.
DOI: 10.1016/j.leukres.2017.08.001
Abstrakt: The hotspot c.7541_7542delCT NOTCH1 mutation has been proven to have a negative clinical impact in chronic lymphocytic leukemia (CLL). However, an optimal method for its detection has not yet been specified. The aim of our study was to examine the presence of the NOTCH1 mutation in CLL using three commonly used molecular methods. Sanger sequencing, fragment analysis and allele-specific PCR were compared in the detection of the c.7541_7542delCT NOTCH1 mutation in 201 CLL patients. In 7 patients with inconclusive mutational analysis results, the presence of the NOTCH1 mutation was also confirmed using ultra-deep next generation sequencing. The NOTCH1 mutation was detected in 15% (30/201) of examined patients. Only fragment analysis was able to identify all 30 NOTCH1-mutated patients. Sanger sequencing and allele-specific PCR showed a lower detection efficiency, determining 93% (28/30) and 80% (24/30) of the present NOTCH1 mutations, respectively. Considering these three most commonly used methodologies for c.7541_7542delCT NOTCH1 mutation screening in CLL, we defined fragment analysis as the most suitable approach for detecting the hotspot NOTCH1 mutation.
(Copyright © 2017 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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