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A rare complex variant translocation t(9;22;6;17;1) in chronic myeloid leukemia: case report
Affiliations- Cytogenetics Laboratory, Maria Sklodowska-Curie National Research Institute of Oncology – National research Institute, Warsaw, Poland
- Day Care Haematology Centre, Clinic of Haematology and Bone Marrow Transplantation, Świętokrzyskie Oncology Centre, Kielce, Poland
- Department of Molecular Diagnostics, Świętokrzyskie Oncology Centre, Kielce, Poland
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Abstract
The presence of the Philadelphia chromosome (Ph) in chronic myelogenous leukaemia (CML) is a specific cytogenetic change resulting from a reciprocal translocation between chromosomes 9 and 22. In 5–10% of newly diagnosed cases there are variant translocations (vPh) involving more chromosomes. This paper presents the case of a CML patient with a complex variant translocation involving chromosomes 1, 6, 9, 17 and 22. A molecular analysis did not reveal any mutation in the kinase domain of BCR-ABL1 gene or the mutation of TP53 gene. After the first-line treatment with imatinib no cytogenetic or molecular response was obtained. The change of treatment to dasatinib resulted in a minimal cytogenetic response (minCyR) followed by a minor cytogenetic response (mCyR). The application of nilotinib in the third-line treatment resulted in a complete molecular response (CMolR) and therapy success. The likely reason for the failure of the first- and second-line treatment was the loss of a fragment of the 17p13 region as a result of a variant translocation. The change can be a functional equivalent of the loss of one copy of TP53. The analysis of presented case confirms the significance of the detailed evaluation of the composition of vPh complex variant translocations as well as importance of combination cytogenetic and molecular diagnostics in CML treatment monitoring. It makes possible to adequate diagnose higher-risk patients and apply effective treatment strategies if an aberration is identified.
Abstract
The presence of the Philadelphia chromosome (Ph) in chronic myelogenous leukaemia (CML) is a specific cytogenetic change resulting from a reciprocal translocation between chromosomes 9 and 22. In 5–10% of newly diagnosed cases there are variant translocations (vPh) involving more chromosomes. This paper presents the case of a CML patient with a complex variant translocation involving chromosomes 1, 6, 9, 17 and 22. A molecular analysis did not reveal any mutation in the kinase domain of BCR-ABL1 gene or the mutation of TP53 gene. After the first-line treatment with imatinib no cytogenetic or molecular response was obtained. The change of treatment to dasatinib resulted in a minimal cytogenetic response (minCyR) followed by a minor cytogenetic response (mCyR). The application of nilotinib in the third-line treatment resulted in a complete molecular response (CMolR) and therapy success. The likely reason for the failure of the first- and second-line treatment was the loss of a fragment of the 17p13 region as a result of a variant translocation. The change can be a functional equivalent of the loss of one copy of TP53. The analysis of presented case confirms the significance of the detailed evaluation of the composition of vPh complex variant translocations as well as importance of combination cytogenetic and molecular diagnostics in CML treatment monitoring. It makes possible to adequate diagnose higher-risk patients and apply effective treatment strategies if an aberration is identified.
Keywords
chronic myelogenous leukaemia; complex variant translocation of the Philadelphia chromosome; treatment of chronic myelogenous leukaemia
About this articleTitle
A rare complex variant translocation t(9;22;6;17;1) in chronic myeloid leukemia: case report
Journal
Nowotwory. Journal of Oncology
Issue
Article type
Case report
Pages
206-210
Published online
2020-10-05
Page views
605
Article views/downloads
843
DOI
Bibliographic record
Nowotwory. Journal of Oncology 2020;70(5):206-210.
Keywords
chronic myelogenous leukaemia
complex variant translocation of the Philadelphia chromosome
treatment of chronic myelogenous leukaemia
Authors
Agnieszka Chudy
Barbara Pieńkowska-Grela
Aleksandra Kotyl
Renata Woroniecka
Jolanta Rygier
Katarzyna Wojtkowska
Ewa Wasińska
Karolina Wąsowska
Renata Chodurska
Artur Kowalik
Beata Grygalewicz
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