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Statements

Subject Item
n2:RIV%2F65269705%3A_____%2F12%3A%230001664%21RIV13-MZ0-65269705
rdf:type
n12:Vysledek skos:Concept
dcterms:description
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 (CML) 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 (KD) 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 CML case, we hypothesize that BCR-ABL1 KD mutations may be pre-concentrated in more primitive CML cells, which subsequently expand into the PB. These findings may have future implications for the strategy used for detecting BCR-ABL1 mutations. 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 (CML) 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 (KD) 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 CML case, we hypothesize that BCR-ABL1 KD mutations may be pre-concentrated in more primitive CML cells, which subsequently expand into the PB. These findings may have future implications for the strategy used for detecting BCR-ABL1 mutations.
dcterms: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 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
skos:prefLabel
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 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
skos:notation
RIV/65269705:_____/12:#0001664!RIV13-MZ0-65269705
n12:predkladatel
n14:ico%3A65269705
n3:aktivita
n15:V n15:Z
n3:aktivity
V, Z(MSM0021622430)
n3:cisloPeriodika
3
n3:dodaniDat
n5:2013
n3:domaciTvurceVysledku
n4:3715434 n4:4500970 n4:4376285 n4:2605562 n4:5378605 n4:3004880 n4:4585623 n4:1344153
n3:druhVysledku
n11:J
n3:duvernostUdaju
n16:S
n3:entitaPredkladatele
n18:predkladatel
n3:idSjednocenehoVysledku
122180
n3:idVysledku
RIV/65269705:_____/12:#0001664
n3:jazykVysledku
n7:eng
n3:klicovaSlova
Chronic Myeloid Leukemia
n3:klicoveSlovo
n17:Chronic%20Myeloid%20Leukemia
n3:kodStatuVydavatele
NZ - Nový Zéland
n3:kontrolniKodProRIV
[DDF6A4D34781]
n3:nazevZdroje
Molecular Diagnosis & Therapy
n3:obor
n8:FD
n3:pocetDomacichTvurcuVysledku
8
n3:pocetTvurcuVysledku
8
n3:rokUplatneniVysledku
n5:2012
n3:svazekPeriodika
16
n3:tvurceVysledku
Mayer, Jiří Jurček, Tomáš Ježíšková, Ivana Ráčil, Zdeněk Žáčková, Daniela Dvořáková, Dana Borský, Marek Rázga, Filip
n3:wos
000305442900004
n3:zamer
n10:MSM0021622430
s:issn
1177-1062
s:numberOfPages
4