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

Mousinho,Filipa; Azevedo,Ana P.; Mendes,Tatiana; Santos,Paula Sousa E; Cerqueira,Rita; Matos,Sónia; Santos,Sónia; Ramos,Sância; Viana,João Faro; Lima,Fernando

doi:10.3892/mmr.2018.9032

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
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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
Published online on: May 17, 2018 https://doi.org/10.3892/mmr.2018.9032
Pages: 1001-1006

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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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