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Molecular and Clinical Oncology
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Print ISSN: 2049-9450 Online ISSN: 2049-9469
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December-2019 Volume 11 Issue 6

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Case Report

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
  • View Affiliations / Copyright

    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
  • Pages: 607-611
    |
    Published online on: October 4, 2019
       https://doi.org/10.3892/mco.2019.1933
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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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1 

Tamascar I and Ramanarayanan J: Targeted treatment of chronic myeloid leukemia: Role of imatinib. Onco Targets Ther. 2:63–71. 2009.PubMed/NCBI

2 

Jabbour E and Kantarjian H: Chronic myeloid leukemia: 2016 update on diagnosis, therapy, and monitoring. Am J Hematol. 91:252–265. 2016. View Article : Google Scholar : PubMed/NCBI

3 

Baxter EJ, Scott LM, Campbell PJ, East C, Fourouclas N, Swanton S, Vassiliou GS, Bench AJ, Boyd EM, Curtin N, et al: Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 365:1054–1061. 2005. View Article : Google Scholar : PubMed/NCBI

4 

Livak KJ and Schmittgen TD: Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods. 25:402–408. 2001. View Article : Google Scholar : PubMed/NCBI

5 

Safaei A, Shokripour M and Omidifar N: Bone marrow and karyotype findings of patients with pancytopenia in southern iran. Iran J Med Sci. 39:333–340. 2014.PubMed/NCBI

6 

Onodera N, McCabe NR and Rubin CM: Rubin: Formation of a hyperdiploid karyotype in childhood acute lymphoblastic leukemia. Blood. 80:203–208. 1992. View Article : Google Scholar : PubMed/NCBI

7 

Belurkar S, Manohar C and Kurien A: Chronic myeloid leukemia with hyperdiploidy: A case report with review of literature. Indian J Med Sci. 67:188–192. 2013. View Article : Google Scholar : PubMed/NCBI

8 

Roland B and Blahey WB: A case of near-triploidy in chronic myelogenous leukemia. Cancer Genet Cytogenet. 121:96–98. 2000. View Article : Google Scholar : PubMed/NCBI

9 

Yehuda O, Abeliovich D, Ben-Neriah S, Sverdlin I, Cohen R, Varadi G, Orr R, Ashkenazi YJ, Heyd J, Lugassy G and Ben Yehuda D: Clinical implications of fluorescence in situ hybridization analysis in 13 chronic myeloid leukemia cases: Ph-negative and variant Ph-positive. Cancer Genet Cytogenet. 114:100–107. 1999. View Article : Google Scholar : PubMed/NCBI

10 

Al-Achkar W, Moassass F, Ikhtiar A, Liehr T, Othman MA and Wafa A: Hyperdiploidy associated with T315I mutation in BCR-ABL kinase domain in an accelerated phase-chronic myeloid leukemia case. Mol Cytogenet. 7:892014. View Article : Google Scholar : PubMed/NCBI

11 

Paulsson K and Johansson B: High hyperdiploid childhood acute lymphoblastic leukemia. Genes Chromosomes Cancer. 48:637–660. 2009. View Article : Google Scholar : PubMed/NCBI

12 

Mrózek K, Harper DP and Aplan PD: Cytogenetics and molecular genetics of acute lymphoblastic leukemia. Hematol Oncol Clin North Am. 23991–1010. (v)2009. View Article : Google Scholar : PubMed/NCBI

13 

Smadja NV, Bastard C, Brigaudeau C, Leroux D and Fruchart C; Groupe Français de Cytogénétique Hématologique, : Hypodiploidy is a major prognostic factor in multiple myeloma. Blood. 98:2229–2238. 2001. View Article : Google Scholar : PubMed/NCBI

14 

Barlogie B, Alexanian R, Dixon D, Smith L, Smallwood L and Delasalle K: Prognostic implications of tumor cell DNA and RNA content in multiple myeloma. Blood. 66:338–341. 1985. View Article : Google Scholar : PubMed/NCBI

15 

Latreille J, Barlogie B, Dosik G, Johnston DA, Drewinko B and Alexanian R: Cellular DNA content as a marker of human multiple myeloma. Blood. 55:403–408. 1980. View Article : Google Scholar : PubMed/NCBI

16 

Morgan RJ Jr, Gonchoroff NJ, Katzmann JA, Witzig TE, Kyle RA and Greipp PR: Detection of hypodiploidy using multi-parameter flow cytometric analysis: A prognostic indicator in multiple myeloma. Am J Hematol. 30:195–200. 1989. View Article : Google Scholar : PubMed/NCBI

17 

Garcia-Sanz R, Orfão A, González M, Moro MJ, Hernández JM, Ortega F, Borrego D, Carnero M, Casanova F, Jiménez R, et al: Prognostic implications of DNA aneuploidy in 156 untreated multiple myeloma patients. Castelano-Leones (Spain) cooperative group for the study of monoclonal gammopathies. Br J Haematol. 90:106–112. 1995. View Article : Google Scholar : PubMed/NCBI

18 

Heerema NA, Raimondi SC, Anderson JR, Biegel J, Camitta BM, Cooley LD, Gaynon PS, Hirsch B, Magenis RE, McGavran L, et al: Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia. Genes Chromosomes Cancer. 46:684–693. 2007. View Article : Google Scholar : PubMed/NCBI

19 

Rojas A, Pineda L, González S, Soto M, Avila E, Urdaneta B, Prieto-Carrasquero M and González R: Chromosomal abnormalities in malignant hematologic diseases. Acta Cient Venez. 51:109–114. 2000.(In Spanish). PubMed/NCBI

20 

Werner M, Kaloutsi V, Buhr T, Delventhal S, Vykoupil KF and Georgii A: Cytogenetics of chronic myelogenous leukemia (CML) correlated to the histopathology of bone marrow biopsies. Ann Hematol. 63:201–205. 1991. View Article : Google Scholar : PubMed/NCBI

21 

Meng CY: Cytogenetics and molecular studies in chronic myeloid leukemiaClements University; 2001

22 

Stagno F, Vigneri P, Consoli ML, Cupri A, Stella S, Tambè L, Massimino M, Manzella L and Di Raimondo F: Hyperdiploidy associated with a high BCR-ABL transcript level may identify patients at risk of progression in chronic myeloid leukemia. Acta Haematol. 127:7–9. 2012. View Article : Google Scholar : PubMed/NCBI

23 

AM B: Cancer cytogeneticsThe principles of clinical cytogenetics. Totowa, New Jersey: Humana Press Inc; 1999

24 

Godley LA and Le Beau MM: Williams Hematology8. Cytogenetics and molecular abnormalities. McGraw Hill; 2008

25 

Wang Z, Zen W, Meng F, Xin X, Luo L, Sun H, Zhou J and Huang L: Chronic myeloid leukemia with variation of translocation at (Ph) [ins (22;9) (q11;q21q34)]: A case report. Int J Clin Exp Pathol. 8:13707–13710. 2015.PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Nikolova D, Damyanova V, Hrischev V, Markova M, Mitev L, Asenova A, Radinov A and Toncheva D: Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report. Mol Clin Oncol 11: 607-611, 2019.
APA
Nikolova, D., Damyanova, V., Hrischev, V., Markova, M., Mitev, L., Asenova, A. ... Toncheva, D. (2019). Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report. Molecular and Clinical Oncology, 11, 607-611. https://doi.org/10.3892/mco.2019.1933
MLA
Nikolova, D., Damyanova, V., Hrischev, V., Markova, M., Mitev, L., Asenova, A., Radinov, A., Toncheva, D."Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report". Molecular and Clinical Oncology 11.6 (2019): 607-611.
Chicago
Nikolova, D., Damyanova, V., Hrischev, V., Markova, M., Mitev, L., Asenova, A., Radinov, A., Toncheva, D."Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report". Molecular and Clinical Oncology 11, no. 6 (2019): 607-611. https://doi.org/10.3892/mco.2019.1933
Copy and paste a formatted citation
x
Spandidos Publications style
Nikolova D, Damyanova V, Hrischev V, Markova M, Mitev L, Asenova A, Radinov A and Toncheva D: Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report. Mol Clin Oncol 11: 607-611, 2019.
APA
Nikolova, D., Damyanova, V., Hrischev, V., Markova, M., Mitev, L., Asenova, A. ... Toncheva, D. (2019). Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report. Molecular and Clinical Oncology, 11, 607-611. https://doi.org/10.3892/mco.2019.1933
MLA
Nikolova, D., Damyanova, V., Hrischev, V., Markova, M., Mitev, L., Asenova, A., Radinov, A., Toncheva, D."Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report". Molecular and Clinical Oncology 11.6 (2019): 607-611.
Chicago
Nikolova, D., Damyanova, V., Hrischev, V., Markova, M., Mitev, L., Asenova, A., Radinov, A., Toncheva, D."Philadelphia‑positive case negative for JAK2 V617F mutation with hyperdiploidic karyotype: A case report". Molecular and Clinical Oncology 11, no. 6 (2019): 607-611. https://doi.org/10.3892/mco.2019.1933
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