Concomitant presence of JAK2V617F mutation and BCR-ABL translocation in two patients

A new entity or a variant of myeloproliferative neoplasms (Case report)

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

Research output: Contribution to journalArticle

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-ABLtranslocation 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.

Original languageEnglish
Pages (from-to)1001-1006
Number of pages6
JournalMolecular Medicine Reports
Volume18
Issue number1
DOIs
Publication statusPublished - 1 Jul 2018

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Rho Guanine Nucleotide Exchange Factors
GTPase-Activating Proteins
Essential Thrombocythemia
Chromosomes
Protein-Tyrosine Kinases
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Mutation
Neoplasms
Philadelphia Chromosome
Proto-Oncogenes
Mutation Rate
Fluorescence In Situ Hybridization

Keywords

  • BCR-ABLtranslocation
  • Chronic myeloid leukemia
  • Essential thrombocythemia
  • JAK2V617F mutation
  • Myeloproliferative neoplasms

Cite this

Mousinho, Filipa ; Azevedo, Ana P. ; Mendes, Tatiana ; Sousa E Santos, Paula ; Cerqueira, Rita ; Matos, Sónia ; Santos, Sónia ; Ramos, Sância ; Viana, João Faro ; Lima, Fernando. / Concomitant presence of JAK2V617F mutation and BCR-ABL translocation in two patients : A new entity or a variant of myeloproliferative neoplasms (Case report). In: Molecular Medicine Reports. 2018 ; Vol. 18, No. 1. pp. 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-ABLtranslocation 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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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; Sousa E Santos, Paula; Cerqueira, Rita; Matos, Sónia; Santos, Sónia; Ramos, Sância; Viana, João Faro; Lima, Fernando.

In: Molecular Medicine Reports, Vol. 18, No. 1, 01.07.2018, p. 1001-1006.

Research output: Contribution to journalArticle

TY - JOUR

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T2 - A new entity or a variant of myeloproliferative neoplasms (Case report)

AU - Mousinho, Filipa

AU - Azevedo, Ana P.

AU - Mendes, Tatiana

AU - Sousa E Santos, Paula

AU - Cerqueira, Rita

AU - Matos, Sónia

AU - Santos, Sónia

AU - Ramos, Sância

AU - Viana, João Faro

AU - Lima, Fernando

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Y1 - 2018/7/1

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