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@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 a 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, roč.~16, č.~3, s.~163-166. ISSN~1177-1062. Dostupné z: https://dx.doi.org/10.2165/11632420-000000000-00000.
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