J 2022

Impact of BCR::ABL1 transcript type on RT-qPCR amplification performance and molecular response to therapy

SALMON, M., H. E. WHITE, Hana ZIZKOVA, A. GOTTSCHALK, Eliska MOTLOVA et. al.

Basic information

Original name

Impact of BCR::ABL1 transcript type on RT-qPCR amplification performance and molecular response to therapy

Authors

SALMON, M., H. E. WHITE, Hana ZIZKOVA (203 Czech Republic), A. GOTTSCHALK, Eliska MOTLOVA (203 Czech Republic), N. CERVEIRA, D. COLOMER, D. CORIU, G. N. FRANKE, E. GOTTARDI, B. IZZO, Tomáš JURČEK (203 Czech Republic, belonging to the institution), T. LION, V. SCHAFER, C. VENTURI, P. VIGNERI, M. ZAWADA, Jan ZUNA (203 Czech Republic), Lenka HOVORKOVA (203 Czech Republic), Jitka KOBLIHOVA (203 Czech Republic), Hana KLAMOVA (203 Czech Republic), Marketa MARKOVA STASTNA (203 Czech Republic), Dana SRBOVA (203 Czech Republic), Adela BENESOVA (203 Czech Republic), Vaclava POLIVKOVA, Daniela ŽÁČKOVÁ (203 Czech Republic, belonging to the institution), Jiří MAYER (203 Czech Republic, belonging to the institution), I. ROEDER, I. GLAUCHE, T. ERNST, A. HOCHHAUS, K. M. POLAKOVA and N. C. P. CROSS (guarantor)

Edition

Leukemia, LONDON, Springer, 2022, 0887-6924

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

Impact factor

Impact factor: 11.400

RIV identification code

RIV/00216224:14110/22:00126254

Organization unit

Faculty of Medicine

UT WoS

000807908400001

Keywords in English

Cancer genetics; Myeloproliferative disease

Tags

Tags

International impact, Reviewed
Změněno: 14/7/2022 09:25, Mgr. Tereza Miškechová

Abstract

V originále

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.