Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
Barbouti, Aikaterini ; Ahlgren, Tomas ; Johansson, Bertil LU ; Höglund, Mattias LU ; Lassen, Carin LU ; Turesson, Ingemar LU ; Mitelman, Felix LU
and Fioretos, Thoas
LU
(2003)
In British Journal of Haematology
122(1).
p.85-93
- Abstract
- Most chronic myeloid leukaemia (CML) patients are genetically characterized by the t(9;22)(q34;q11), generating the BCR/ABL1 fusion gene. However, a few CML patients with rearrangements of 9q34 and 12p13, leading to ETV6/ABL1 chimaeras, have also been reported. Here we describe the clinical and genetic response to imatinib mesylate treatment of an ETV6/ABL1-positive CML patient diagnosed in blast crisis (BC). A chronic phase was achieved after acute myeloid leukaemia induction therapy. Then, treatment with imatinib mesylate (600 mg/d) was initiated and the effect was assessed clinically as well as genetically, including by repeated interphase fluorescence in situ hybridization studies. Until d 71 of imatinib mesylate therapy, stable... (More)
- Most chronic myeloid leukaemia (CML) patients are genetically characterized by the t(9;22)(q34;q11), generating the BCR/ABL1 fusion gene. However, a few CML patients with rearrangements of 9q34 and 12p13, leading to ETV6/ABL1 chimaeras, have also been reported. Here we describe the clinical and genetic response to imatinib mesylate treatment of an ETV6/ABL1-positive CML patient diagnosed in blast crisis (BC). A chronic phase was achieved after acute myeloid leukaemia induction therapy. Then, treatment with imatinib mesylate (600 mg/d) was initiated and the effect was assessed clinically as well as genetically, including by repeated interphase fluorescence in situ hybridization studies. Until d 71 of imatinib mesylate therapy, stable improvements in the clinical and laboratory features were noted, and the frequency of ABL1-rearranged peripheral blood cells decreased from 56% to 11%. At d 92, an additional t(12;13)(p12;q13), with the 12p breakpoint proximal to ETV6, was found. The patient relapsed into BC 126 d after the start of the imatinib mesylate treatment and succumbed to the disease shortly afterwards. No mutations in the tyrosine kinase domain of ABL1 of the ETV6/ABL1 fusion were identified in the second BC. However, whereas the ETV6/ABL1 expression was seemingly the same at diagnosis and at second BC, the expression of ETV6 was markedly lower at the second BC. This decreased expression of wild-type ETV6 may have been a contributory factor for the relapse. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/115729
- author
- Barbouti, Aikaterini
; Ahlgren, Tomas
; Johansson, Bertil
LU
; Höglund, Mattias
LU
; Lassen, Carin
LU
; Turesson, Ingemar
LU
; Mitelman, Felix
LU
and Fioretos, Thoas
LU
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- British Journal of Haematology
- volume
- 122
- issue
- 1
- pages
- 85 - 93
- publisher
- Wiley-Blackwell
- external identifiers
-
- pmid:12823349
- wos:000183689800010
- scopus:0038683894
- ISSN
- 0007-1048
- DOI
- 10.1046/j.1365-2141.2003.04391.x
- language
- English
- LU publication?
- yes
- id
- 15c4342c-7f2b-4094-9c42-ce0fb0cce7ba (old id 115729)
- date added to LUP
- 2016-04-01 12:22:50
- date last changed
- 2022-05-26 06:02:45
@article{15c4342c-7f2b-4094-9c42-ce0fb0cce7ba,
abstract = {{Most chronic myeloid leukaemia (CML) patients are genetically characterized by the t(9;22)(q34;q11), generating the BCR/ABL1 fusion gene. However, a few CML patients with rearrangements of 9q34 and 12p13, leading to ETV6/ABL1 chimaeras, have also been reported. Here we describe the clinical and genetic response to imatinib mesylate treatment of an ETV6/ABL1-positive CML patient diagnosed in blast crisis (BC). A chronic phase was achieved after acute myeloid leukaemia induction therapy. Then, treatment with imatinib mesylate (600 mg/d) was initiated and the effect was assessed clinically as well as genetically, including by repeated interphase fluorescence in situ hybridization studies. Until d 71 of imatinib mesylate therapy, stable improvements in the clinical and laboratory features were noted, and the frequency of ABL1-rearranged peripheral blood cells decreased from 56% to 11%. At d 92, an additional t(12;13)(p12;q13), with the 12p breakpoint proximal to ETV6, was found. The patient relapsed into BC 126 d after the start of the imatinib mesylate treatment and succumbed to the disease shortly afterwards. No mutations in the tyrosine kinase domain of ABL1 of the ETV6/ABL1 fusion were identified in the second BC. However, whereas the ETV6/ABL1 expression was seemingly the same at diagnosis and at second BC, the expression of ETV6 was markedly lower at the second BC. This decreased expression of wild-type ETV6 may have been a contributory factor for the relapse.}},
author = {{Barbouti, Aikaterini and Ahlgren, Tomas and Johansson, Bertil and Höglund, Mattias and Lassen, Carin and Turesson, Ingemar and Mitelman, Felix and Fioretos, Thoas}},
issn = {{0007-1048}},
language = {{eng}},
number = {{1}},
pages = {{85--93}},
publisher = {{Wiley-Blackwell}},
series = {{British Journal of Haematology}},
title = {{Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.}},
url = {{https://lup.lub.lu.se/search/files/2899739/623810.pdf}},
doi = {{10.1046/j.1365-2141.2003.04391.x}},
volume = {{122}},
year = {{2003}},
}