Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

Brecqueville, Mandy; Rey, Jérôme; Devillier, Raynier; Guillé, Arnaud; Gillet, Rémi; Adélaı̈de, José; Gelsi‐Boyer, Véronique; Arnoulet, Christine; Chaffanet, Max; Mozziconacci, Marie‐Joëlle; Vey, Norbert; Birnbaum, Daniel; Murati, Anne

doi:10.3324/haematol.2013.091454

Cited by 40 publications

(41 citation statements)

References 57 publications

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“…To our knowledge, somatic mutations in PTPN11 have only been reported in 4 MPN patients, 1 of whom had transformed to AML. 16,29 Somatic PTPN11 mutations (P491) have been described in patients with JMML and pediatric AML and ALL, 30,31 and germ-line mutations (F71 and D106) have been reported in patients with JMML and .50% of those with Noonan syndrome. 32,33 The 3 patients harboring KRAS/PTPN11 mutations found in patients with Noonan syndrome reported a history of stroke (2 patients; KRAS I36M and PTPN1 1F71) and mitral and tricuspid valve regurgitation (1 patient; PTPN11 D106 mutation), but none of them displayed any obvious signs of Noonan syndrome.…”

Section: Discussionmentioning

confidence: 99%

Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib

Patel¹,

Newberry

Luthra³

et al. 2015

Blood

177

132

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Section: Discussionmentioning

confidence: 99%

Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib

Patel¹,

Newberry

Luthra³

et al. 2015

Blood

177

132

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“…PMF and post PRV / post ET SMF have different molecular backgrounds; PMF harbors larger number of mutated genes while SMF more closely mirrors the disease of origin. 5,6 Homeostasis of both healthy and diseased human tissues is regulated by a stem cell network of signaling cascades where canonical Wnt signaling cascade plays a pivotal role. 7 Binding of canonical Wnt ligands (Wnt1, Wnt3a, Wnt8) with receptor Frizzled induces membranous complex formation with low-density-lipoprotein receptor related protein 5/6 (LRP5/6) and recruits intracellular proteins Dishevelled and Axin to plasma membrane.…”

Section: Introductionmentioning

confidence: 99%

Canonical Wnt/β-Catenin Signaling Pathway Is Dysregulated in Patients With Primary and Secondary Myelofibrosis

Lucijanić

Livun

Tomasović-Lončarić

et al. 2016

Clinical Lymphoma Myeloma and Leukemia

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“…65-70%). 16,17 The study by Brequeville et al 9 in this issue highlights some very interesting data emerging when the overall data from MF is directly compared to PMF, and also on disease progression on the evolution to ET or PV post PMF. A high number of mutated genes were seen in PMF compared to acute phase MF.…”

mentioning

confidence: 99%

“…In the study, the authors reported scores for primary MF and showed that the presence of CNA was associated with intermediate-2/high risk DIPSS and DIPSS-plus scores. However, the mutational analysis of the 23 selected genes in the current study 9 has highlighted some important and significant differences in the mutational spectrum across the primary and secondary MF and between those patients who have progressed to MF from PV or ET. The authors have compared their data with that previously published 13 by the same group, and using the same technology panel, on mutations in ET and PV.…”

mentioning

confidence: 99%

“…However, the report in this issue of the Journal by Brecqueville et al 9 has used array-comparative genomic hybridization and sequencing of 23 MPN associated genes in a cohort of myelofibrosis patients at primary and acute phases. Array comparative genomic hybridization (arrayCGH) has become a widely used and valuable genomewide screening tool for the detection of chromosomal aberrations in the form of copy number imbalances or alterations (CNA) in the field of cytogenetics, with the major advantage that it allows a genome wide screen at vastly improved resolution compared to traditional techniques.…”

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confidence: 99%

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Mutational spectrum defines primary and secondary myelofibrosis

Mills¹,

McMullin²

2014

Haematologica

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E ssential thrombocythemia (ET), polycythemia vera (PV) and primary myelofibrosis (PMF) belong to the group of Philadelphia chromosome-negative myeloproliferative neoplasias (Ph -MPN). MPNs are clonal bone marrow stem cell disorders involving a multipotent hematopoietic stem cell, characterized by proliferation of one or more lineages of the myeloid, erythroid and megakaryocytic cell lines. This proliferation results in increased numbers of granulocytes, erythrocytes or platelets in the peripheral blood, respectively.The most prevalent mutation in MPN is the JAK2-V617F mutation, discovered in 2005.1-4 Approximately 95% of PV patients, 50-70% of ET patients and 40-50% of PMF patients possess this specific JAK2 mutation. The JAK2-V617F mutation is located in exon 14 of the gene and abrogates the negative regulatory activity of the pseudokinase domain JH2 of the encoded JAK2 tyrosine kinase.5 Therefore, this mutation leads to a constitutive active JAK2 kinase signaling which is independent of cytokine stimulation.Hematopoiesis is regulated mainly by hematopoietic cytokines, such as granulocyte colony stimulating factor (GCSF), erythropoietin (EPO) or thrombopoietin (TPO). Mutated genes found in MPNs frequently target these cytokine signaling pathways with mutations in the JAK2 gene being the most prominent. Myeloproliferative leukemia virus oncogene (MPL) encodes the receptor for TPO, which mediates signaling through the JAK-STAT pathway and several gain-of-function mutations in exon 10 are seen in JAK2-V617F negative ET and PMF patients. Loss-of-function mutations of the adaptor protein LNK (SH2B3), which negatively regulates the TPO and EPO cytokine signaling, have been reported at low frequency in JAK2-V617F negative MPN patients. Other signaling mutations have also been reported in SOCS, and CBL, NRAS as deletions of NF1. Mutations of genes involved in RNA splicing, such as SF3B1, SRSF2, U2AF1, have been identified in myelodysplastic syndrome (MDS) and MPN patients. 6 Gene expression regulators, such as transcription factors, are deleted or mutated in MPN, suggesting a critical function in MPN pathogenesis. IKZF1, which encodes the transcription factor Ikaros, is a target of chromosome 7p deletions in MPNs, and a late event in the clonal evolution from MPN to sAML. Other transcription factors are involved in chromosomal deletions: FOXP1 and del 3p, ETV6 and deletions on chromosome 12p, and CUX1 and chromosome 7q deletions. In addition, the transcription factor p53 was found to be mutated in a small proportion of patients, 7 and RUNX1 has been reported to be mutated in AML, post-MDS-AML and post-MPN AML.8 Furthermore, various genes involved in epigenetic mechanisms can be mutated: TET2 mutations in approximately 5% in ET, 16% in PV, and 17% in PMF. Mutations in the enzymes isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) which act as a co-factor for TET2 have also been reported at low frequency and are more often found in post-MPN AML. DNMT3A, a de novo methyltransferase is mutated in approximately 10% of MPN pa...

show abstract

Array comparative genomic hybridization and sequencing of 23 genes in 80 patients with myelofibrosis at chronic or acute phase

Cited by 40 publications

References 57 publications

Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib

Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib

Canonical Wnt/β-Catenin Signaling Pathway Is Dysregulated in Patients With Primary and Secondary Myelofibrosis

Mutational spectrum defines primary and secondary myelofibrosis

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