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Impact of BCR::ABL1 transcript type on RT-qPCR amplification performance and molecular response to therapy.
Salmon, Matthew; White, Helen E; Zizkova, Hana; Gottschalk, Andrea; Motlova, Eliska; Cerveira, Nuno; Colomer, Dolors; Coriu, Daniel; Franke, Georg N; Gottardi, Enrico; Izzo, Barbara; Jurcek, Tomas; Lion, Thomas; Schäfer, Vivien; Venturi, Claudia; Vigneri, Paolo; Zawada, Magdalena; Zuna, Jan; Hovorkova, Lenka; Koblihova, Jitka; Klamova, Hana; Markova, Marketa Stastna; Srbova, Dana; Benesova, Adela; Polivkova, Vaclava; Zackova, Daniela; Mayer, Jiri; Roeder, Ingo; Glauche, Ingmar; Ernst, Thomas; Hochhaus, Andreas; Polakova, Katerina Machova; Cross, Nicholas C P.
Afiliación
  • Salmon M; Faculty of Medicine, University of Southampton, Southampton, UK.
  • White HE; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Zizkova H; Faculty of Medicine, University of Southampton, Southampton, UK.
  • Gottschalk A; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury, UK.
  • Motlova E; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Cerveira N; Institute for Medical Informatics and Biometry (IMB), Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany.
  • Colomer D; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Coriu D; Portuguese Oncology Institute of Porto, Porto, Portugal.
  • Franke GN; Pathology Department, Hospital Clinic, Institut d' Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), CIBERONC, Barcelona, Spain.
  • Gottardi E; Fundeni Clinical Institute, Hematology Department, Bucharest, Romania.
  • Izzo B; Hematology Department, Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", Bucharest, Romania.
  • Jurcek T; University of Leipzig Medical Center, Department for Hematology, Cellular Therapies and Hemostaseology, Leipzig, Germany.
  • Lion T; Laboratory of Chemical and Clinical Analysis "Area 3" A.O.U San Luigi Gonzaga-Orbassano, Turin, Italy.
  • Schäfer V; Department of Molecular Medicine and Medical Biotechnology University 'Federico II' and CEINGE - Advanced Biotechnologies, Naples, Italy.
  • Venturi C; Center of Molecular Biology and Gene Therapy, Internal Hematology and Oncology Clinic, Faculty Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Vigneri P; Labdia Labordiagnostik / St. Anna Children´s Cancer Research Institute (CCRI), Vienna, Austria.
  • Zawada M; Abteilung Hämatologie/Onkologie, Klinik für Innere Medizin II, University of Jena, Jena, Germany.
  • Zuna J; IRCSS Azienda Ospedaliero-Universitaria di Bologna, Istituto di Ematologia "Seràgnoli", Bologna, Italy.
  • Hovorkova L; University of Catania, Department of Clinical and Experimental Medicine, Center of Experimental Oncology and Hematology, Catania, Italy.
  • Koblihova J; The University Hospital in Krakow, Krakow, Poland.
  • Klamova H; CLIP, Dept. of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Markova MS; CLIP, Dept. of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic.
  • Srbova D; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Benesova A; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Polivkova V; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Zackova D; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Mayer J; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Roeder I; Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
  • Glauche I; Internal Hematology and Oncology Clinic, Faculty Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Ernst T; Internal Hematology and Oncology Clinic, Faculty Hospital Brno and Faculty of Medicine, Masaryk University, Brno, Czech Republic.
  • Hochhaus A; Institute for Medical Informatics and Biometry (IMB), Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany.
  • Polakova KM; National Center for Tumor Diseases (NCT), Dresden, Germany: German Cancer Research Center (DKFZ), Heidelberg, Germany; Faculty of Medicine and University Hospital Carl Gustav Carus, TU Dresden, Dresden, Germany. Helmholtz-Zentrum Dresden-Rossendorf (HZDR), Dresden, Germany.
  • Cross NCP; Institute for Medical Informatics and Biometry (IMB), Carl Gustav Carus Faculty of Medicine, TU Dresden, Dresden, Germany.
Leukemia ; 36(7): 1879-1886, 2022 07.
Article en En | MEDLINE | ID: mdl-35676453
Several studies have reported that chronic myeloid leukaemia (CML) patients expressing e14a2 BCR::ABL1 have a faster molecular response to therapy compared to patients expressing e13a2. To explore the reason for this difference we undertook a detailed technical comparison of the commonly used Europe Against Cancer (EAC) BCR::ABL1 reverse transcriptase quantitative polymerase chain reaction (RT-qPCR) assay in European Treatment and Outcome Study (EUTOS) reference laboratories (n = 10). We found the amplification ratio of the e13a2 amplicon was 38% greater than e14a2 (p = 0.015), and the amplification efficiency was 2% greater (P = 0.17). This subtle difference led to measurable transcript-type dependent variation in estimates of residual disease which could be corrected by (i) taking the qPCR amplification efficiency into account, (ii) using alternative RT-qPCR approaches or (iii) droplet digital PCR (ddPCR), a technique which is relatively insensitive to differences in amplification kinetics. In CML patients, higher levels of BCR::ABL1/GUSB were identified at diagnosis for patients expressing e13a2 (n = 67) compared to e14a2 (n = 78) when analysed by RT-qPCR (P = 0.0005) but not ddPCR (P = 0.5). These data indicate that widely used RT-qPCR assays result in subtly different estimates of disease depending on BCR::ABL1 transcript type; these differences are small but may need to be considered for optimal patient management.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia Mielógena Crónica BCR-ABL Positiva / Proteínas de Fusión bcr-abl Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Leukemia Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucemia Mielógena Crónica BCR-ABL Positiva / Proteínas de Fusión bcr-abl Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: Leukemia Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2022 Tipo del documento: Article Pais de publicación: Reino Unido