JAK2 mutation 1849G&amp;gt;T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome–negative CML, and megakaryocytic leukemia

Jelı́nek, Jaroslav; Oki, Yasuhiro; Gharibyan, Vazganush; Bueso‐Ramos, Carlos E.; Prchal, Josef T.; Verstovšek, Srđan; Beran, Miloslav; Estey, Elihu H.; Kantarjian, Hagop M.; Issa, Jean–Pierre J.

doi:10.1182/blood-2005-05-1800

Cited by 348 publications

(305 citation statements)

References 19 publications

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“…24 Generalised pruritus was found more frequent in homozygous JAK2 mutated PV patients than unmutated or heterozygous mutated PV patients. 24,25 There are few data about relation of JAK2 mutation to leukemic transformation. Kraloyics et al were found no relationship for JAK2 mutation and leukemic transformation in 244 MPD patients.…”

Section: Introductionmentioning

confidence: 99%

JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

İlhan¹,

Karakuş²,

Şahin³

2012

UHOD

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In this study, we planned to investigate frequency of the JAK2 V617F mutation and it's relation with clinical and laboratory findings of BCR-ABL negative myeloproliferative diseases (MPD) which consist of polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Totally 65 patients were included in the study which composed of 28 (43.1 %) PV, 29 (44 %) ET and 8 (12.3 %) IMF patients. Forty one (63%) patients were female and 24 (37%) were male. Mean age of patients was 64.02±12.42. Frequency of the JAK2V617F mutation was found in 25 (89.3%) of PV, 18 (62.1%) of ET and 2 (25%) of IMF patients. We found no difference in gender and frequency of thrombosis, constitutional symptoms, pruritus, hemorrhage, splenomegaly, bone marrow fibrosis, cytoreductive treatment requirement, arterial/venous thrombosis between JAK2 V617F mutated and unmutated PV and ET and IMF patients. When compared homozygous and heterozygous JAK2 V617F mutated PV and ET patients according to these variables, there was no significant difference. There were no statistically significant difference in Hemoglobin (Hb), hematocrit (HCT), leukocyte, lactate dehidrogenase (LDH), EPO and ferritin levels between JAK2 V617F mutated and unmutated PV and ET patients. HCT levels and leukocyte counts were significantly higher in JAK2 V617F mutated than unmutated IMF patients (p=0.046, p=0.046). Other variables were not found different. Comprehensive prospective studies are necessary for determining the relationship of the JAK2 V617F mutation with clinical and laboratory findings . 3), ET hastalar›n›n 18'inde (% 62.1) ve IMF hastalar›n›n 2'sinde (%25) olarak bulundu. JAK2 V617F mutasyonu olan ve olmayan PV ve ET ve IMF hastalar› aras›nda cinsiyet, tromboz s›kl›¤›, konstitüsyonel semptomlar, pruritus, hemoraji, splenomegali, kemik ili¤i fibrozisi, sitoredüktif tedavi ihtiyac›, arteriyel/venöz tromboz geliflimleri aç›s›ndan bir fark bulamad›k. Heterozigot ve homozigot JAK2 V617F mutasyonu olan PV ve ET hastalar›, bu parametreler aç›s›ndan karfl›laflt›r›ld›¤›nda, anlaml› bir fark yoktu (p>0.05).

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Section: Introductionmentioning

confidence: 99%

JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

İlhan¹,

Karakuş²,

Şahin³

2012

UHOD

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“…However, leukemic transformation after such OLT has rarely been reported [6]. In our case, the progression to leukemia was rapid, which was highly unusual for ET [7], particularly with minimal prior cytoreduction.…”

Section: Discussionmentioning

confidence: 53%

Serial analysis of JAK2 mutation in a patient who developed essential thrombocythemia after orthotopic liver transplantation

Fung

Liu

et al. 2006

Am. J. Hematol.

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A 52-year-old man developed essential thrombocythemia (ET) with JAK2 V617F mutation after orthotopic liver transplantation (OLT). Retrospective analysis showed that, despite a low platelet count, the JAK2 mutation was already found at presentation 14 months before OLT. The high platelet count that would have been typical of ET might be masked by the cirrhosis-related hypersplenism. Thrombocythemia became obvious after OLT. The patient subsequently developed blastic transformation 12 months afterward, a process probably accelerated by the immunosuppression required for the OLT.

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“…Other recent studies found a similar incidence of the V617F mutation: 0/17 (Jones et al, 2005), 5/90 (6%) , 2/39 (5%) (Jelinek et al, 2005), 4/222 (2%, three had preceding MPD) (Levine et al, 2005b), 1/152 (0.7%) (Frohling et al, 2006), and 2/112 (2%) (Lee et al, 2006). The V617F mutation in AML was initially found in FAB M6 (1/53) (Frohling et al, 2006) and FAB M7 (2/11) (Jelinek et al, 2005), while the FAB subtype of AML was not described in other reports. In the current study, this mutation was also found to be present in one out of 12 patients with AML M2 (8%): one of the four patients with t(8;21)(q22;q22).…”

Section: Lane 5)mentioning

confidence: 53%

“…Recent studies have shown the V617F mutation to be present in some cases of acute myeloid leukemia (AML), myelodysplastic syndrome (MDS) and chronic myelomonocytic leukemia (CMMoL) (Jelinek et al, 2005;Levine et al, 2005b). However, limited information is available to determine whether the mutation is specifically associated with myeloid neoplasms, and most of the studies are from Europe and North America.…”

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confidence: 99%

Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan

et al. 2008

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A unique mutation of the JAK2 gene, V617F, has recently been identified in polycythemia vera, essential thrombocythemia and myeloid metaplasia with myelofibrosis. To determine the relevance of this mutation in other types of hematological neoplasms in Japan, we performed allele-specific polymerase chain reaction analysis on the JAK2 gene. The V617F mutation was detected in one out of 130 myeloid neoplasms, but in none of 114 lymphoid malignancies and four biphenotypic acute leukemias. Although a favorable chromosomal alteration t(8;21)(q22;q22) was observed in one acute myeloid leukemia (AML) patient with the mutation, two courses of chemotherapy resulted in induction failure and short survival. Sequencing of JAK2 cDNA revealed expression of the mutant allele in the patient. The V617F mutation might play a role in the pathogenesis of certain AML cases.

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JAK2 mutation 1849G>T is rare in acute leukemias but can be found in CMML, Philadelphia chromosome–negative CML, and megakaryocytic leukemia

Cited by 348 publications

References 19 publications

JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

JAK 2V617F Mutation: Frequency and Relation to Clinical and Laboratory Features of BCR-ABL Negative Myeloproliferative Diseases

Serial analysis of JAK2 mutation in a patient who developed essential thrombocythemia after orthotopic liver transplantation

Infrequent V617F mutation of the JAK2 gene in myeloid leukemia and its absence in lymphoid malignancies in Japan

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