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

Article in a journal

Field of Study

30200 3.2 Clinical medicine

Country of publisher

New Zealand

Confidentiality degree

is not subject to a state or trade secret

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

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Cite

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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