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

Nikolova,Dragomira; Damyanova,Vera; Hrischev,Vasil; Markova,Maria; Mitev,Lubomir; Asenova,Aselina; Radinov,Atanas; Toncheva,Draga

doi:10.3892/mco.2019.1933

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

Authors:
- Dragomira Nikolova
- Vera Damyanova
- Vasil Hrischev
- Maria Markova
- Lubomir Mitev
- Aselina Asenova
- Atanas Radinov
- Draga Toncheva
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Affiliations: Department of Medical Genetics, Medical Faculty, Medical University Sofia, 1431 Sofia, Bulgaria, Clinic of Hematology, University Hospital ‘St. Ivan Rilski’, 1431 Sofia, Bulgaria, Department of Clinical Laboratory and Immunology, Military Medical Academy, 1606 Sofia, Bulgaria
Published online on: October 4, 2019 https://doi.org/10.3892/mco.2019.1933
Pages: 607-611

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Abstract

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.

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