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Molecular Medicine Reports
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July-2018 Volume 18 Issue 1

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Case Report

Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)

  • Authors:
    • Filipa Mousinho
    • Ana P. Azevedo
    • Tatiana Mendes
    • Paula Sousa E Santos
    • Rita Cerqueira
    • Sónia Matos
    • Sónia Santos
    • Sância Ramos
    • João Faro Viana
    • Fernando Lima
  • View Affiliations / Copyright

    Affiliations: Department of Clinical Hematology, Hospital of São Francisco Xavier, West Lisbon Hospital Centre, 1449‑005 Lisbon, Portugal, Department of Clinical Pathology, Hospital of São Francisco Xavier, West Lisbon Hospital Centre, 1449‑005 Lisbon, Portugal, CGC Clinical Genetics Centre, 4000‑432 Porto, Portugal, GenoMed‑Molecular Medicine Diagnosis, Molecular Medicine Institute, Faculty of Medicine University of Lisbon, 1649‑028 Lisbon, Portugal, Pathology Department, Hospital of São Francisco Xavier, West Lisbon Hospital Centre, 1449‑005 Lisbon, Portugal
  • Pages: 1001-1006
    |
    Published online on: May 17, 2018
       https://doi.org/10.3892/mmr.2018.9032
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Abstract

Myeloproliferative neoplasms (MPNs) are classically divided into BCR RhoGEF and GTPase activating protein (BCR)-ABL proto‑oncogene 1 non‑receptor tyrosine kinase (ABL) positive chronic myeloid leukemia (CML) and BCR‑ABL negative MPNs, including essential thrombocythemia (ET). One of the major diagnostic criteria for ET is the absence of the philadelphia chromosome, thus when present it is almost indicative of CML. ET and CML are considered to be mutually exclusive; however, there are rare situations in which patients with ET present positive BCR‑ABL without the features of CML. Although from the literature review, the frequency of JAK2V617F mutation and BCR‑ABL translocation coexistence in MPNs is low, it may be higher than expected. The current study reported cases of two patients with an initial diagnosis of ET in the presence of JAK2V617F mutation and BCR‑ABL translocation by fluorescent in situ hybridization. Both patients presented with a heterozygous BCR‑ABL translocation, and absence of p190 and p210 transcripts, seemingly a der(9) in the background of an ET JAK2V617F mutation.
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Copy and paste a formatted citation
Spandidos Publications style
Mousinho F, Azevedo A, Mendes T, Santos PS, Cerqueira R, Matos S, Santos S, Ramos S, Viana JF, Lima F, Lima F, et al: Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report). Mol Med Rep 18: 1001-1006, 2018.
APA
Mousinho, F., Azevedo, A., Mendes, T., Santos, P.S., Cerqueira, R., Matos, S. ... Lima, F. (2018). Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report). Molecular Medicine Reports, 18, 1001-1006. https://doi.org/10.3892/mmr.2018.9032
MLA
Mousinho, F., Azevedo, A., Mendes, T., Santos, P. S., Cerqueira, R., Matos, S., Santos, S., Ramos, S., Viana, J. F., Lima, F."Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)". Molecular Medicine Reports 18.1 (2018): 1001-1006.
Chicago
Mousinho, F., Azevedo, A., Mendes, T., Santos, P. S., Cerqueira, R., Matos, S., Santos, S., Ramos, S., Viana, J. F., Lima, F."Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)". Molecular Medicine Reports 18, no. 1 (2018): 1001-1006. https://doi.org/10.3892/mmr.2018.9032
Copy and paste a formatted citation
x
Spandidos Publications style
Mousinho F, Azevedo A, Mendes T, Santos PS, Cerqueira R, Matos S, Santos S, Ramos S, Viana JF, Lima F, Lima F, et al: Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report). Mol Med Rep 18: 1001-1006, 2018.
APA
Mousinho, F., Azevedo, A., Mendes, T., Santos, P.S., Cerqueira, R., Matos, S. ... Lima, F. (2018). Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report). Molecular Medicine Reports, 18, 1001-1006. https://doi.org/10.3892/mmr.2018.9032
MLA
Mousinho, F., Azevedo, A., Mendes, T., Santos, P. S., Cerqueira, R., Matos, S., Santos, S., Ramos, S., Viana, J. F., Lima, F."Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)". Molecular Medicine Reports 18.1 (2018): 1001-1006.
Chicago
Mousinho, F., Azevedo, A., Mendes, T., Santos, P. S., Cerqueira, R., Matos, S., Santos, S., Ramos, S., Viana, J. F., Lima, F."Concomitant presence of JAK2V617F mutation and BCR‑ABL translocation in two patients: A new entity or a variant of myeloproliferative neoplasms (Case report)". Molecular Medicine Reports 18, no. 1 (2018): 1001-1006. https://doi.org/10.3892/mmr.2018.9032
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