Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using
Direct Sequencing Detection of the T315I Mutation in Bone
Marrow CD34+Cells of a Patient with Chronic Myelogenous
Leukemia 6 Months Prior to its Emergence in Peripheral Blood

J 2012

Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using Direct Sequencing Detection of the T315I Mutation in Bone Marrow CD34+Cells of a Patient with Chronic Myelogenous Leukemia 6 Months Prior to its Emergence in Peripheral Blood

RÁZGA, Filip, Tomáš JURČEK, Ivana JEZISKOVA, Daniela ŽÁČKOVÁ, Dana DVOŘÁKOVÁ et. al.

Basic information

Original name

Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using Direct Sequencing Detection of the T315I Mutation in Bone Marrow CD34+Cells of a Patient with Chronic Myelogenous Leukemia 6 Months Prior to its Emergence in Peripheral Blood

Authors

RÁZGA, Filip (703 Slovakia, guarantor, belonging to the institution), Tomáš JURČEK (203 Czech Republic, belonging to the institution), Ivana JEZISKOVA (203 Czech Republic), Daniela ŽÁČKOVÁ (203 Czech Republic, belonging to the institution), Dana DVOŘÁKOVÁ (203 Czech Republic, belonging to the institution), Marek BORSKÝ (203 Czech Republic, belonging to the institution), Jiří MAYER (203 Czech Republic, belonging to the institution) and Zdeněk RÁČIL (203 Czech Republic, belonging to the institution)

Edition

Molecular Diagnosis & Therapy, AUCKLAND, ADIS INT LTD, 2012, 1177-1062

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30200 3.2 Clinical medicine

Country of publisher

New Zealand

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 1.692

RIV identification code

RIV/00216224:14740/12:00060675

Organization unit

Central European Institute of Technology

DOI

http://dx.doi.org/10.2165/11632420-000000000-00000.

UT WoS

000305442900004

Keywords in English

CHRONIC MYELOID-LEUKEMIA; IMATINIB RESISTANCE; ABL MUTATIONS; TRANSCRIPTS; PROGENITORS; INHIBITOR; ASSAY

Abstract

V originále

Background and Objective: It has been shown that the occurrence of the BCR-ABL1 T315I mutation leads to a very poor therapeutic outcome in chronic myelogenous leukemia (CM L) patients treated with tyrosine kinase inhibitors. Therefore, early detection of this mutation could potentially lead to early therapeutic intervention and a better prognosis with the ongoing treatment regimen. Methods: The detection of BCR-ABL1 kinase domain (KID) mutations was performed by direct sequencing of peripheral blood (PB), total bone marrow (BM), and BM CD34+ cells from a reported CML patient. Results: In this patient, the T315I mutation was detected in BM CD34+ cells 6 months prior to its emergence in PB, suggesting evolution and expansion of the T315I mutation clone, which most likely originated from more primitive CML cells. Conclusion: Our finding reflects the natural development of a T315I mutation within the hematopoietic system of the reported patient and indicates the importance of BCR-ABL1 mutation monitoring in more primitive cell populations. Considering the natural history of T315I development in this reported CM L case, we hypothesize that BCR-ABL1 KD mutations may be pre-concentrated in more primitive CM L cells, which subsequently expand into the PB. These findings may have future implications for the strategy used for detecting BCR-ABL1 mutations.

Links

MSM0021622430, plan (intention)

Name: Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Investor: Ministry of Education, Youth and Sports of the CR, Functional and molecular characteristics of cancer and normal stem cells - identification of targets for novel therapeutics and therapeutic strategies

Files attached

Mutation_BCR-ABL1_Razga_Racil.pdf

Request the author's version of the file

Citovat

RÁZGA, Filip, Tomáš JURČEK, Ivana JEZISKOVA, Daniela ŽÁČKOVÁ, Dana DVOŘÁKOVÁ, Marek BORSKÝ, Jiří MAYER and Zdeněk RÁČIL. Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using Direct Sequencing Detection of the T315I Mutation in Bone Marrow CD34+Cells of a Patient with Chronic Myelogenous Leukemia 6 Months Prior to its Emergence in Peripheral Blood. Molecular Diagnosis & Therapy. AUCKLAND: ADIS INT LTD, 2012, vol. 16, No 3, p. 163-166. ISSN 1177-1062. Available from: https://dx.doi.org/10.2165/11632420-000000000-00000.

@article{990339,
   author = {Rázga, Filip and Jurček, Tomáš and Jeziskova, Ivana and Žáčková, Daniela and Dvořáková, Dana and Borský, Marek and Mayer, Jiří and Ráčil, Zdeněk},
   article_location = {AUCKLAND},
   article_number = {3},
   doi = {http://dx.doi.org/10.2165/11632420-000000000-00000.},
   keywords = {CHRONIC MYELOID-LEUKEMIA; IMATINIB RESISTANCE; ABL MUTATIONS; TRANSCRIPTS; PROGENITORS; INHIBITOR; ASSAY},
   language = {eng},
   issn = {1177-1062},
   journal = {Molecular Diagnosis & Therapy},
   title = {Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using Direct Sequencing Detection of the T315I Mutation in Bone Marrow CD34+Cells of a Patient with Chronic Myelogenous Leukemia 6 Months Prior to its Emergence in Peripheral Blood},
   url = {http://www.ncbi.nlm.nih.gov/pubmed/22489663},
   volume = {16},
   year = {2012}
}

TY  - JOUR
ID  - 990339
AU  - Rázga, Filip - Jurček, Tomáš - Jeziskova, Ivana - Žáčková, Daniela - Dvořáková, Dana - Borský, Marek - Mayer, Jiří - Ráčil, Zdeněk
PY  - 2012
TI  - Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using Direct Sequencing Detection of the T315I Mutation in Bone Marrow CD34+Cells of a Patient with Chronic Myelogenous Leukemia 6 Months Prior to its Emergence in Peripheral Blood
JF  - Molecular Diagnosis & Therapy
VL  - 16
IS  - 3
SP  - 163-166
EP  - 163-166
PB  - ADIS INT LTD
SN  - 11771062
KW  - CHRONIC MYELOID-LEUKEMIA
KW  - IMATINIB RESISTANCE
KW  - ABL MUTATIONS
KW  - TRANSCRIPTS
KW  - PROGENITORS
KW  - INHIBITOR
KW  - ASSAY
UR  - http://www.ncbi.nlm.nih.gov/pubmed/22489663
L2  - http://www.ncbi.nlm.nih.gov/pubmed/22489663
N2  - Background and Objective: It has been shown that the occurrence of the BCR-ABL1 T315I mutation leads to a very poor therapeutic outcome in chronic myelogenous leukemia (CM L) patients treated with tyrosine kinase inhibitors. Therefore, early detection of this mutation could potentially lead to early therapeutic intervention and a better prognosis with the ongoing treatment regimen. Methods: The detection of BCR-ABL1 kinase domain (KID) mutations was performed by direct sequencing of peripheral blood (PB), total bone marrow (BM), and BM CD34+ cells from a reported CML patient. Results: In this patient, the T315I mutation was detected in BM CD34+ cells 6 months prior to its emergence in PB, suggesting evolution and expansion of the T315I mutation clone, which most likely originated from more primitive CML cells. Conclusion: Our finding reflects the natural development of a T315I mutation within the hematopoietic system of the reported patient and indicates the importance of BCR-ABL1 mutation monitoring in more primitive cell populations. Considering the natural history of T315I development in this reported CM L case, we hypothesize that BCR-ABL1 KD mutations may be pre-concentrated in more primitive CM L cells, which subsequently expand into the PB. These findings may have future implications for the strategy used for detecting BCR-ABL1 mutations.
ER  -

RÁZGA, Filip, Tomáš JURČEK, Ivana JEZISKOVA, Daniela ŽÁČKOVÁ, Dana DVOŘÁKOVÁ, Marek BORSKÝ, Jiří MAYER and Zdeněk RÁČIL. Analysis of Mutations in the BCR-ABL1 Kinase Domain, Using Direct Sequencing Detection of the T315I Mutation in Bone Marrow CD34+Cells of a Patient with Chronic Myelogenous Leukemia 6 Months Prior to its Emergence in Peripheral Blood. \textit{Molecular Diagnosis \&{} Therapy}. AUCKLAND: ADIS INT LTD, 2012, vol.~16, No~3, p.~163-166. ISSN~1177-1062. Available from: https://dx.doi.org/10.2165/11632420-000000000-00000.

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