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.

Základní údaje

Originální název

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

Autoři

RÁZGA, Filip (703 Slovensko, garant, domácí), Tomáš JURČEK (203 Česká republika, domácí), Ivana JEZISKOVA (203 Česká republika), Daniela ŽÁČKOVÁ (203 Česká republika, domácí), Dana DVOŘÁKOVÁ (203 Česká republika, domácí), Marek BORSKÝ (203 Česká republika, domácí), Jiří MAYER (203 Česká republika, domácí) a Zdeněk RÁČIL (203 Česká republika, domácí)

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Nový Zéland

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 1.692

Kód RIV

RIV/00216224:14740/12:00060675

Organizační jednotka

Středoevropský technologický institut

DOI

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

UT WoS

000305442900004

Klíčová slova anglicky

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

Štítky

ok, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 4. 2013 07:49, Olga Křížová

Anotace

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.

Návaznosti

MSM0021622430, záměr

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

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Přiložené soubory

Mutation_BCR-ABL1_Razga_Racil.pdf

Požádat o autorskou verzi souboru

Citovat

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. 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.

@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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