Concomitant detection of <scp>BCR</scp>–<scp>ABL</scp> translocation and <scp>JAK</scp>2 <scp>V</scp>617<scp>F</scp> mutation in five patients with myeloproliferative neoplasm at diagnosis

Cappetta, Mónica; Pérez, Verónica; Zubillaga, María Noel; Elizondo, Victoria; Manrique, Gonzalo; Prosper, Ines; Boschi, Susana; Bonomi, Rossana; Pomoli, Santiago; Díaz, Lilián; Martinez, Luis Mario Villela; Uriarte, Miren

doi:10.1111/ijlh.12010

Cited by 13 publications

(9 citation statements)

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“…Since the post-JAK2V617F era, totally 41 MPN patients have been reported with concurrent BCR-ABL junction and JAK2V617F mutation. The male and female ratio was 2:1 (24 vs 12), except for five cases without description [5]. The median age of male and female cases was 62.5 years (male: 32-71) and 68 years (female: 27-82).…”

Section: Discussionmentioning

confidence: 93%

Coexistence of JAK2V617F Mutation and BCR–ABL Translocation in a Pregnant Woman with Essential Thrombocythemia

Qin

Yang

et al. 2014

Indian J Hematol Blood Transfus

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In 2012, a 25-years-old pregnant woman presented with thromocytosis for 4 months, blood counts showed platelets 701 × 10(9)/L. Bone marrow examination disclosed a feature of hypercellular marrow in erythrocytic,granulocytic and megakaryocytic series. Cytogenetic analysis showed t(9;22)(q34;q11) in 100 % of metaphase. The percentage of BCR-ABL-positive FISH signals was 37 % in the peripheral blood. Molecular analysis showed the presence of the JAK2V617F mutation and BCR-ABL mRNA b3a2 transcript. A diagnosis of concomitant presence of essential thrombocythemia and chronic myelocytic leukemia was made. Based on this case and literatures reported before, it might be necessary to detect JAK2-V617F mutation and BCR-ABL fusion gene concomitantly in myeloproliferative neoplasms patients.

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Section: Discussionmentioning

confidence: 93%

Coexistence of JAK2V617F Mutation and BCR–ABL Translocation in a Pregnant Woman with Essential Thrombocythemia

Qin

Yang

et al. 2014

Indian J Hematol Blood Transfus

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“…However a few cases have been reported in which there was a co-existence of two genetic alterations. In some of these the BCR-ABL1 and JAK2 mutations were found to co-exist [3][4][5][6][7][8][9][10][11].…”

Section: Discussionmentioning

confidence: 99%

“…Previously, it was thought that the JAK2 V617F mutation and BCR-ABL1 translocation were mutually exclusive. However a few rare cases have been reported that are positive for both alterations [4][5][6][7][8][9][10][11][12][13][14][15][16][17]. We report the first case in Central American with the presence of JAK2 V617F mutation, in a patient with the diagnosis of Philadelphia positive chronic myeloid leukemia.…”

Section: Introductionmentioning

confidence: 99%

Detection of Jak2 V617f Mutation, Secondary to the Presence of Bcr-Abl1 Translocation in a Patient with Chronic Myeloid Leukemia: Report of a Case and Review of the Literature

Tinti¹

2014

Int J Genomic Med

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The myeloproliferative neoplasms are classified in four major diseases: Chronic Myeloid Leukemia, Polycythemia Vera, Primary Myelofibrosis and Essential Thrombocythemia. The JAK2 V617F mutation is found in 95% of Polycythemia Vera, and 50% of Essential Thrombocythemia and Primary Myelofibrosis patients. It was thought that the JAK2 V617F mutation and BCR-ABL1 translocation were mutually exclusive; but now a few cases have been reported with both alterations. We report a rare case with the presence of JAK2 V617F mutation, secondary to a diagnosis of BCR-ABL positive chronic myeloid leukemia. The patient was initially diagnosed as chronic myeloid leukemia and was BCR-ABL1 positive, so he started to receive Imatinib. He responded well to the therapy for three years, but after this time the patient had a hematological relapse still with no detectable copies of BCR-ABL1. For this reason, we thought of the possible development of another genetic alteration. Because the patient had a very high platelet count, we decided to look for the JAK2 V617F mutation, which result was positive. This case is just one of the few that have been reported worldwide that have a coexistence of these two genetic alterations: the BCR-ABL1 transcript and JAK2 V617F mutation in chronic myeloproliferative syndromes. This is the first case in the Central American population, found in our series of a total of 168 patients with Philadelphia positive chronic myeloid leukemia.

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“…Th e fi rst diagnosis is also variable: it was either CML, either PV, but in the majority of cases BCR-ABL subclones were the dominant ones, JAK2 V617F subclones becoming manifest only after the suppression of BCR-ABL with targeted TKI therapy. In such cases the patients had abnormal blood counts (leukocytosis, trombocytosis), rising the suspicion of TKI therapy failure or resistance, but molecular testing clarifi es the situation [20][21][22].…”

Section: Discussionmentioning

confidence: 99%

The Importance of Identification of M-BCRABL Oncogene and JAK2^V617F Mutation in Myeloproliferative Neoplasms

Szántó

Pávai

et al. 2014

Acta Medica Marisiensis

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Background: The elucidation of the genetic background of the myeloproliferative neoplasms completely changed the management of these disorders: the presence of the Philadelphia chromosome and/or the BCR-ABL oncogene is pathognomonic for chronic myeloid leukemia and identification of JAK2 gene mutations are useful in polycytemia vera (PV), essential thrombocytemia (ET) and myelofibrosis (PMF). The aim of this study was to investigate the role of molecular biology tests in the management of myeloproliferative neoplasms. Materials and methods: We tested the blood samples of 117 patients between April 2008 and February 2013 at the Molecular Biology of UMF Târgu Mureș using RQ-PCR (for M-BCR-ABL oncogene) and/or allele-specific PCR (for JAK2V617F mutation). Results: Thirty-two patients presented the M-BCR-ABL oncogene, 16 of them were regularly tested as a follow-up of the administered therapy: the majority of chronic phase patients presented decreasing or stable values, while in case of accelerated phase and blast phase the M-BCR-ABL values increased or remained at the same level. Twenty patients were identified with the JAK2V617F mutation: 8 patients with PV, 4 with ET, 3 with PMF, 4 with unclassifiable chronic myeloproliferative disease and 1 patient with chronic myelomonocytic leukemia. There was no case of concomitant occurance of both molecular markers. Conclusions: Molecular biology testing plays an important role in the management of myeloproliferative neoplasms: identification of the molecular markers confirms the final diagnosis, excluding secondary causes of abnormal blood count parameters. Regular monitoring of MBCR- ABL expression level is useful in the follow-up of therapeutic efficiency.

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Concomitant detection of BCR–ABL translocation and JAK2 V617F mutation in five patients with myeloproliferative neoplasm at diagnosis

Cited by 13 publications

References 5 publications

Coexistence of JAK2V617F Mutation and BCR–ABL Translocation in a Pregnant Woman with Essential Thrombocythemia

Coexistence of JAK2V617F Mutation and BCR–ABL Translocation in a Pregnant Woman with Essential Thrombocythemia

Detection of Jak2 V617f Mutation, Secondary to the Presence of Bcr-Abl1 Translocation in a Patient with Chronic Myeloid Leukemia: Report of a Case and Review of the Literature

The Importance of Identification of M-BCRABL Oncogene and JAK2^V617F Mutation in Myeloproliferative Neoplasms

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Concomitant detection of BCR–ABL translocation and JAK2 V617F mutation in five patients with myeloproliferative neoplasm at diagnosis

Cited by 13 publications

References 5 publications

Coexistence of JAK2V617F Mutation and BCR–ABL Translocation in a Pregnant Woman with Essential Thrombocythemia

Coexistence of JAK2V617F Mutation and BCR–ABL Translocation in a Pregnant Woman with Essential Thrombocythemia

Detection of Jak2 V617f Mutation, Secondary to the Presence of Bcr-Abl1 Translocation in a Patient with Chronic Myeloid Leukemia: Report of a Case and Review of the Literature

The Importance of Identification of M-BCRABL Oncogene and JAK2V617F Mutation in Myeloproliferative Neoplasms

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The Importance of Identification of M-BCRABL Oncogene and JAK2^V617F Mutation in Myeloproliferative Neoplasms