JAK2-V617F activating mutation in acute myeloid leukemia: prognostic impact and association with other molecular markers

Vicente, Carmen; Vázquez, Iria; Marcotegui, Nerea; Conchillo, Ana; Carranza, Claudia; Rivell, Guillermo; Bandrés, Eva; Cristóbal, Ion; Lahortiga, Idoya; Calasanz, Marı́a José; Odero, Marı́a D.

doi:10.1038/sj.leu.2404812

Cited by 30 publications

(14 citation statements)

References 18 publications

(35 reference statements)

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“…A study by Vicente et al (2007) screened the 339 AML samples and found that 11 cases were positive for the JAK2-V617F mutation, overall frequency of the mutation was 3.2%, consistent with previous studies [146,149,150]. All mutated patients had either M1 or M2, demonstrating association with less-differentiated leukemias.…”

Section: Jak2 Mutationssupporting

confidence: 81%

“…In a previous study researcher analyzed the influence of the JAK2-V617F mutation on prognosis, and they found that this mutation has no significant impact on the OS of patients with AML [150]. While recent study showed that in refractory anemia with ringed sideroblasts associated with sustained thrombocytosis, JAK2V617F mutation is frequent and associated with good prognosis, the clinical and prognostic impact of this mutation in other MDS is not clear [152].…”

Section: Jak2 Prognostic Relevancementioning

confidence: 99%

See 1 more Smart Citation

Distinct Gene Mutations, their Prognostic Relevance and Molecularly Targeted Therapies in Acute Myeloid Leukemia (AML)

Tayyab¹

2014

J Cancer Sci Ther

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Acquired genetic alterations which include balanced and unbalanced chromosome aberrations and submicroscopic gene mutations and changes in gene expression strongly influenced by pretreatment clinical features and prognosis of adults patients with acute myeloid leukemia (AML). Cytogenetic profiling separate AML patients into three broad prognostic groups: favorable, intermediate and adverse. The cytogenetic risk classifications vary to some extent for younger adult patients and for those aged 60 years or older. In many cases, patients with specific cytogenetic rearrangement such as those with a normal karyotype or those with either RUNX1-RUNX1T1 or CBFB-MYH11 feature of core-binding factor (CBF) can be further subdivided into prognostic categories depend on the presence or absence of specific gene mutations or changes in gene expression. Advancement in the understanding of cancer genetic and discovery of recurrent mutations in AML provide opportunity to develop targeted therapies and improve the clinical outcome. The identified gene mutations, mainly targetable lesions are gain of function mutations of JAK2 and cKIT and FLT3 in APL have been associated with clinical features and/ or outcome of patients with these AML subtypes. These data emphasize the significance of genetic testing for common translocations for diagnosis, prognosis and increasingly targeted therapy in acute leukemia. Notably, these several molecular genetic alterations constitute a variety of diverse new targets for salvage therapies. These approaches intend to develop targeted treatment concepts that depend on interference with molecular genetics or epigenetic mechanisms. This report provides an overview on characteristic gene mutations, discuss their biological functions and Prognostic significance, which serve as basis for selected therapy approaches now or might represent options for such approaches in the future and expected to have a role in treating AML subtypes with characteristic molecular alterations.

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Section: Jak2 Mutationssupporting

confidence: 81%

Section: Jak2 Prognostic Relevancementioning

confidence: 99%

Distinct Gene Mutations, their Prognostic Relevance and Molecularly Targeted Therapies in Acute Myeloid Leukemia (AML)

Tayyab¹

2014

J Cancer Sci Ther

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show abstract

“…It is of note that a high prevalence of co-operating mutations of FLT3, KIT, or N-RAS in AML patients with the JAK2 mutation has been reported. [7][8][9] In the current study, a total of 23 (51%) patients had mutations in KIT, FLT3 and JAK2, suggesting that activating mutations in the RTK and JAK2 play a critical role as a secondary event leading to the development of t(8;21) AML.…”

mentioning

confidence: 60%

Myelofibrotic transformation in essential thrombocythemia. Author reply

Passamonti¹,

Rumi²,

Boveri³

et al. 2009

Haematologica

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“…PronaĊena je u manjem procentu i kod drugih oboljenja (hroniĉna mijelomonocitna leukemija, mijelodisplastiĉni sindrom, Bcr-Abl negativna CML, megakariocitna leukemija [41], vrlo retko u akutnoj mijeloidnoj leukemiji [42], ali nikad kod zdravih ljudi [40]. Prisutna je u ćelijama mijeloidne loze, a nije detektovana u B i T limfocitima [43].…”

Section: Vesna Spasovskiunclassified

“…TakoĊe, pokazano je da je FLT3-ITD prisutan kod 15% sAML nastale od mijelodisplazije [161]. U literaturi je opisano udruţeno prisustvo JAK2-V617F i FLT3-ITD mutacije kod pacijenata sa AML, mada se kliniĉki znaĉaj ovog dogaĊaja još uvek ne zna [42]. Nije iskljuĉena mogućnost da bi udruţenost ove dve aktivirajuće mutacije sa snaţnim uticajen na proliferaciju, moglo da objasni evoluciju MPN u AML.…”

Section: Transformacija Mpn U Akutnu Mijeloidnu Leukemijuunclassified

Molecular mechanisms of pathogenesis of myeloproliferative neoplasms: deregulation of genes involved in cell proliferation and apoptosis

Spasovski¹

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JAK2-V617F activating mutation in acute myeloid leukemia: prognostic impact and association with other molecular markers

Cited by 30 publications

References 18 publications

Distinct Gene Mutations, their Prognostic Relevance and Molecularly Targeted Therapies in Acute Myeloid Leukemia (AML)

Distinct Gene Mutations, their Prognostic Relevance and Molecularly Targeted Therapies in Acute Myeloid Leukemia (AML)

Myelofibrotic transformation in essential thrombocythemia. Author reply

Molecular mechanisms of pathogenesis of myeloproliferative neoplasms: deregulation of genes involved in cell proliferation and apoptosis

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