ArticleMolecular cytogenetics2015
Masked inv dup(22)(q11.23), tetrasomy 8 and trisomy 19 in a blast crisis-chronic myeloid leukemia after interrupted Imatinib-treatment.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Philadelphia chromosome-negative but BCR::ABL1-positive acute lymphoblastic leukemia: a real-world multicenter cohort study.International journal of hematology · 2026Article
- The Impact of Cytogenetic Aberrations in the Clonal Evolution of Chronic Myeloid Leukemia: A Single-Center Experience Among 450 Turkish Patients (Cohort Study)Turkish journal of haematology : official journal of Turkish Society of Haematology · 2022Article
- Molecular, Cytogenetic, and Hematological Analysis of Chronic Myeloid Leukemia Patients and Discovery of Two Novel Translocations.Analytical cellular pathology (Amsterdam) · 2021Article
- Effects and Mechanism of Imatinib in Inhibiting Colon Cancer Cell Proliferation.Medical science monitor : international medical journal of experimental and clinical research · 2016Article
- Philadelphia chromosome duplication as a ring-shaped chromosome.Molecular cytogenetics · 2016Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Philadelphia (Ph) chromosome, or derivative chromosome 22 [der(22)], is a product of the reciprocal translocation t(9;22). It is the hallmark of chronic myelogenous leukemia (CML). It results in juxtaposition of the 5' part of the BCR gene on chromosome 22 to the 3' part of the ABL1 gene on chromosome 9. During CML progression 60-80 % of the cases acquire additional genetic changes. Blast crisis (BC) is characterized by the rapid expansion of a population of differentiation arrested blast cells (myeloid or lymphoid cells population), often presenting with secondary chromosomal abnormalities. Here we report an unusual CML-BC case with acquired secondary chromosomal aberrations observed after the patient had to interrupt a successful Imatinib treatment for overall 16 months. CASE PRESENTATION: A complete cytogenetic and molecular cytogenetic analysis were performed and application of molecular genetic methods such as reverse transcription polymerase chain reaction (RT-PCR) finally characterized a complex karyotype including an inv dup(22)(q11.23), tetrasomy 8 and trisomy 19.
conclusionsHere we report the first case of a BC after successfully initiated and suddenly interrupted Imatinib treatment. Changes present after such an instant indicate for a rapid progression after Imatinib is no longer suppressing the disease.
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