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Philadelphia-positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report
- Publication Year :
- 2019
- Publisher :
- D.A. Spandidos, 2019.
-
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.
- Subjects :
- Cancer Research
ABL
Autosome
Myeloid leukemia
Chromosome
Karyotype
Chromosomal translocation
Articles
Biology
medicine.disease
Philadelphia chromosome
03 medical and health sciences
Leukemia
0302 clinical medicine
Oncology
030220 oncology & carcinogenesis
hemic and lymphatic diseases
Cancer research
medicine
030211 gastroenterology & hepatology
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....083524429f3f87a85135698d86a52fe3