Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report

Chronic myeloid leukemia (CML) is one of the most common hematological malignancies and accounts for 15-20% of all leukemia cases. The cytogenetic marker of CML is the presence of Philadelphia chromosome (Ph) in >95% of patients. The current case reports a 83-year old woman who was directed to th...

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Bibliographic Details
Published in:Molecular and clinical oncology 2019-12, Vol.11 (6), p.607-611
Main Authors: Nikolova, Dragomira, Damyanova, Vera, Hrischev, Vasil, Markova, Maria, Mitev, Lubomir, Asenova, Aselina, Radinov, Atanas, Toncheva, Draga
Format: Article
Language:English
Subjects:
Analysis
Anemia
Blood tests
Bone marrow
Case reports
Chromosome abnormalities
Chromosomes
Chronic myeloid leukemia
Deoxyribonucleic acid
DNA
Genetic aspects
Granulocytes
Hemoglobin
Iron
Laboratories
Leukemia
Lymphocytes
Morphology
Mutation
Myeloid leukemia
Neutrophils
Nilotinib
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Summary:Chronic myeloid leukemia (CML) is one of the most common hematological malignancies and accounts for 15-20% of all leukemia cases. The cytogenetic marker of CML is the presence of Philadelphia chromosome (Ph) in >95% of patients. The current case reports a 83-year old woman who was directed to the genetic laboratory for a cytogenetic and molecular-genetic analysis suspected to be Ph positive [(+)]. Karyotype analysis of a bone marrow sample revealed a hyperdiploid karyotype in a part of Ph (+) cells with additional chromosomes 8, 10 and 12. Restriction analysis for V617F JAK2 mutation was negative, while the quantitative RT-qPCR assay indicated BCR-ABL/ABL transcript at the level of 120% International Scale (IS). Generally cytogenetic complexities are important in the prognostic evaluation of CML. Besides the Ph chromosome, a variet of chromosomal aberrations may be associated with CML. A total of 5-10% of these cases show complex translocations involving another chromosome. The current case is Ph(+) demonstrating an additional hyperdiploid karyotype clone with three additional autosomes (8, 10 and 12). This case highlights the significance of cytogenetic abnormalities on the prognosis of CML. Key words: chronic myeloid leukaemia, Philadelphia chromosome, hyperdiploid karyotype
ISSN:2049-9450
2049-9469
DOI:10.3892/mco.2019.1933