AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
Myeloproliferative DisordersPolycythemia VeraJanus Kinase 2Primary MyelofibrosisThrombocytosisThrombocythemia, EssentialLeukemia, Myelogenous, Chronic, BCR-ABL PositiveLeukemia, Myelomonocytic, JuvenileSplenomegalyLeukemia, Myelomonocytic, ChronicHematopoiesis, ExtramedullaryFusion Proteins, bcr-ablReceptors, ThrombopoietinGenes, ablLeukocytosisSTAT5 Transcription FactorOncogene Proteins, FusionBone MarrowHematopoietic Stem Cellsfms-Like Tyrosine Kinase 3Bone Marrow TransplantationMutationLeukemia, Myeloid, AcuteGene Expression Regulation, LeukemicMyelodysplastic-Myeloproliferative DiseasesBone Marrow CellsCell Transformation, NeoplasticBenzamidesMyeloid CellsRetroviridaeLeukemiaPyrimidinesHematopoiesisReceptors, ErythropoietinMutation, MissensePiperazinesLeukemia, Myeloid, Chronic, Atypical, BCR-ABL NegativeTranslocation, GeneticMice, Inbred C57BLTransduction, GeneticDisease Models, AnimalSignal TransductionProtein-Tyrosine KinasesBone Marrow NeoplasmsCell ProliferationMice, KnockoutProto-Oncogene ProteinsLeukemia, Neutrophilic, ChronicMyelodysplastic SyndromesMice, Inbred BALB CPhenotypeMice, TransgenicFlow CytometrySarcoma Viruses, MurineLeukemia, MyeloidHypereosinophilic SyndromeMegakaryocytesReceptor, Fibroblast Growth Factor, Type 1Moloney murine sarcoma virusCells, CulturedAnemia, RefractoryMyelopoiesisLeukemia, Megakaryoblastic, AcutePhiladelphia ChromosomeGranulocytesCell Line, TumorCell LineThrombopoietinBlast CrisisProto-Oncogene Proteins c-cblPolycythemia
NeoplasmMPNsNegative myeloproliferative neoplasmsDisordersMyelodysplastic syndromeMutationEssential thrombocythemiaPolycythemiaAcuteCalled myeloproliferative neoplasms8p11 myeloproliferative syndromeDiagnosisChronicTypes of myeloproliferativeCalreticulinProteinsPatientsV617F2016ClinicalDisorderSyndromeLeukemiaPlateletsMyeloid neoplasmsTranslocationProteinSymptomsMalignanciesCALRGeneticHematologyClassificationPDGFRA2022TET2JanusGroup of diseasesCancerCancersEosinophiliaBloodClonal proliferationMyelofibrosisOccurPrimaryCharacterizationTumorHematopoietic
Neoplasm6
  • Depending on the nature of the myeloproliferative neoplasm, diagnostic tests may include red cell mass determination (for polycythemia), bone marrow aspirate and trephine biopsy, arterial oxygen saturation and carboxyhaemoglobin level, neutrophil alkaline phosphatase level, vitamin B12 (or B12 binding capacity), serum urate or direct sequencing of the patient's DNA. (wikipedia.org)
  • I'm joined today by Dr. Ruben Mesa, the director of the UT Health San Antonio MD Anderson Cancer Center and world-renowned MPN (myeloproliferative neoplasm) expert, and a dear colleague. (curetoday.com)
  • Myelofibrosis (MF) is a hematopoietic stem cell malignancy classified as a myeloproliferative neoplasm (MPN). (cancernetwork.com)
  • BRAF is the most frequent gene inclusion criterion for solid neoplasm clinical trials [ 3 ]. (mycancergenome.org)
  • Analysis of DNA Methylation Gene Mutations and Clinical Features in Patients with Myeloproliferative Neoplasm]. (cdc.gov)
  • Essential Thrombocythemia Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by an increased platelet count, megakaryocytic hyperplasia, and a hemorrhagic or microvascular vasospastic tendency. (msdmanuals.com)
MPNs13
  • Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers in which excess red blood cells, white blood cells or platelets are produced in the bone marrow. (wikipedia.org)
  • People with MPNs might not have symptoms when their disease is first detected via blood tests. (wikipedia.org)
  • Although considered rare diseases, incidence rates of MPNs are increasing, in some cases tripling. (wikipedia.org)
  • To set the stage, I'll ask you to give us an introduction and to provide an overview of MPNs, or myeloproliferative neoplasms. (curetoday.com)
  • Myeloproliferative neoplasms, or MPNs - also called myeloproliferative disorders, or MPDs - are a collection of blood disorders that are believed to be caused by mutations in bone marrow stem cells. (ucsfhealth.org)
  • Myeloproliferative neoplasms (MPNs) represent a heterogenous group of disorders of the hematopoietic stem cell, with a high risk of evolution into acute myeloid leukemia (AML). (ajmc.com)
  • Conventional antileukemic therapy has limited efficacy in patients with BCR-ABL1 -negative MPNs in accelerated or blast phase of the disease. (ajmc.com)
  • The discovery of an activating point mutation in the Janus kinase 2 gene ( JAK2 V617F) in a significant portion of patients with MPNs led to improved understanding of the pathobiology of these disorders and prompted rapid development of JAK inhibitors. (cancernetwork.com)
  • The myeloproliferative neoplasms (MPNs) are a heterogeneous group of chronic hematological malignancies that are generally divided into the Philadelphia chromosome-positive (Ph-positive) MPNs, which refers to chronic myelogenous leukemia (CML) and the Philadelphia chromosome-negative (Ph-negative) MPNs. (cancernetwork.com)
  • Imago is a clinical stage biopharmaceutical company developing new medicines for the treatment of myeloproliferative neoplasms (MPNs) and other bone marrow diseases. (merck.com)
  • Development of a Real-Time qPCR Assay for Detection of Common MPL Mutations in Myeloproliferative Neoplasms (MPNS). (cdc.gov)
  • Signaling mutations (eg, JAK2V617F) and mutations in genes involved in epigenetic regulation (eg, TET2) are the most common cooccurring classes of mutations in myeloproliferative neoplasms (MPNs). (westminster.ac.uk)
  • Clinical correlative studies have demonstrated that TET2 mutations are enriched in more advanced phases of MPNs such as myelofibrosis and leukemic transformation, suggesting that they may cooperate with JAK2V617F to promote disease progression. (westminster.ac.uk)
Negative myeloproliferative neoplasms8
  • JAK2 V617F and exon 12 genetic variations in Korean patients with BCR/ABL1-negative myeloproliferative neoplasms]. (cdc.gov)
  • TET2 mutations in Ph-negative myeloproliferative neoplasms: identification of three novel mutations and relationship with clinical and laboratory findings. (cdc.gov)
  • T, GPX1 Pro198Leu and GSTP1 Ile105Val influence the risk of developing BCR-ABL negative myeloproliferative neoplasms. (cdc.gov)
  • The most commonly seen mutations in the Philadelphia negative myeloproliferative neoplasms include those in Janus kinase, myeloproliferative leukemia protein and the calreticulin genes. (bvsalud.org)
  • Philadelphia negative myeloproliferative neoplasms occur infrequently, with a combined annual incidence of 2.58 per 100,000. (bvsalud.org)
  • ABL1-negative myeloproliferative neoplasms, ET is frequently diagnosed in adolescents and young adults (AYA), defined as individuals aged 15 to 39 years, in up to 20% of patients. (bvsalud.org)
  • JAK2 rs10974944 is associated with both V617F-positive and negative myeloproliferative neoplasms in a Vietnamese population: A potential genetic marker. (cdc.gov)
  • Study of CALR, MPL, and c-kit Gene Mutations in Thai Patients with JAK2 V617F Negative Myeloproliferative Neoplasms. (cdc.gov)
Disorders31
Myelodysplastic syndrome2
  • 5 Hematopoietic disruptions in the myeloid lineage can lead to 3 major disease categories: acute myeloid leukemia (AML), myeloproliferative neoplasms (MPN), and myelodysplastic syndrome (MDS). (oncomine.com)
  • Acquisition of JAK2, PTPN11, and RAS mutations during disease progression in primary myelodysplastic syndrome. (lu.se)
Mutation14
  • The overproduction of blood cells is often associated with a somatic mutation, for example in the JAK2, CALR, TET2, and MPL gene markers. (wikipedia.org)
  • According to WHO diagnostic criteria published in 2016, myeloproliferative neoplasms are diagnosed as follows: Chronic myeloid leukemia (CML) has a presence of the hallmark Philadelphia Chromosome (BCR-ABL1) mutation. (wikipedia.org)
  • Chronic neutrophilic leukemia (CNL) is characterized by a mutation in the CSF3R gene and an exclusion of other causes of neutrophilia. (wikipedia.org)
  • In 2005, several groups of researchers identified a gene mutation, JAK2V617F , that was present in more than 95% of PV patients. (cdc.gov)
  • A small number of affected individuals have a somatic mutation in another part of the JAK2 gene known as exon 12. (medlineplus.gov)
  • The V617F JAK2 gene mutation results in the production of a JAK2 protein that is constantly turned on (constitutively activated), which, in essential thrombocythemia, leads to the overproduction of abnormal blood cells called megakaryocytes. (medlineplus.gov)
  • About 3 percent of affected individuals have a somatic mutation in the exon 12 region of the JAK2 gene. (medlineplus.gov)
  • Their four-year study of the RAS family - including the KRAS , NRAS and HRAS genes that are mutated in approximately one-third of all human cancers - found that the frequency of mutant RAS genes differs among various tumor types, age, sex and racial groups, and co-mutation patterns among RAS genes and other genes potentially can result in different clinical outcomes or identify new areas for therapeutic intervention. (news-medical.net)
  • Led by Robert Scharpf, Ph.D., associate professor of oncology at the Johns Hopkins Kimmel Cancer Center, the team developed novel analytical frameworks to assess the prevalence and co-mutation patterns of RAS genes in the AACR Project GENIE registry. (news-medical.net)
  • Approximately 90 percent of patients with ET have a mutation of the JAK2, MPL or CALR gene. (lls.org)
  • About 10 percent of ET patients do not have a JAK2, MPL or CALR gene mutation. (lls.org)
  • JAK2 V617F mutation prevalence in myeloproliferative neoplasms in Pernambuco, Brazil. (cdc.gov)
  • To date, correlations with the presence of this mutation and significantly longer duration of disease, a higher rate of complications (fibrosis, hemorrhage, and thrombosis), and treatment with cytoreductive therapy have only been identified by one group. (ashpublications.org)
  • Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. (lu.se)
Essential thrombocythemia10
  • Somatic mutations in the JAK2 gene are associated with essential thrombocythemia, a disorder characterized by an increased number of platelets, the blood cells involved in normal blood clotting. (medlineplus.gov)
  • One group of those are the myeloproliferative neoplasms, which includes essential thrombocythemia, a disease named for having too many platelets, polycythemia vera, a disease named for having too many red blood cells, and myelofibrosis. (curetoday.com)
  • In essential thrombocythemia, or ET, patients have too many platelets, and sometimes they have too many white blood cells, and they might have one of those changes in the genes in JAK2 or in CALR. (curetoday.com)
  • Essential thrombocythemia, also known as primary thrombocythemia, is a rare blood disease characterized by an overproduction of platelets in the bone marrow. (vejthani.com)
  • Essential thrombocythemia is considered an acquired genetic condition, meaning it occurs when specific genes undergo mutations or changes. (vejthani.com)
  • In summary, the mutations in these genes lead to an abnormal increase in platelet production, exceeding the body's needs, and resulting in essential thrombocythemia. (vejthani.com)
  • BACKGROUND: Essential thrombocythemia is one of the chronic myeloproliferative neoplasms characterized by clonal proliferation of myeloid cells with variable morphological maturation and hematopoietic activity.It is characterized by excessive clonal platelet production with a tendency to thrombosis and bleeding. (bvsalud.org)
  • The classical myeloproliferative neoplasms are divided into chronic myeloid leukemia, and the Philadelphia negative polycythemia vera, essential thrombocythemia and primary myelofibrosis. (bvsalud.org)
  • Phlebotomy and aspirin are the mainstay of treatment in low-risk polycythemia vera and essential thrombocythemia patients, whereas high-risk disease calls for additional cytoreduction, usually with hydroxyurea. (bvsalud.org)
  • Comparison of Clinical and Hematological Parameters of Janus Kinase 2, Calreticulin or Myeloproliferative Leukemia Virus Oncogene Mutant Essential Thrombocythemia and Triple-Negative Essential Thrombocythemia. (cdc.gov)
Polycythemia5
  • Somatic mutations in the JAK2 gene are associated with polycythemia vera, a disorder characterized by uncontrolled blood cell production. (medlineplus.gov)
  • The molecular causes of the majority of MPN cases have been identified - mutations in the genes JAK2 and ABL are found in nearly all patients with polycythemia vera and chronic myeloid leukemia, respectively. (ucsfhealth.org)
  • The term myeloproliferative disease (MPD) embraces the conditions chronic myeloid leukemia, polycythemia vera (PV), idiopathic myelofibrosis (IMF), essential thombocythemia (ET) and in the revised World Health Organization (WHO) classification also includes rarer entities such as chronic neutrophilic leukemia. (ashpublications.org)
  • The overproduction of red blood cells characterizes polycythemia vera (PV), 1 of the 3 commonly classical Philadelphia chromosome-negative, or BCR-ABL, myeloproliferative neoplasms. (oncomine.com)
  • Polycythemia vera (PV) is a bone marrow disease that leads to an abnormal increase in the number of blood cells. (limamemorial.org)
Acute6
  • However, some can progress to acute leukaemia, a more aggressive disease. (edu.au)
  • It is a disease that can progress to acute leukemia. (curetoday.com)
  • the disease rapidly advances to acute leukemia, usually of myeloid lineage. (reactome.org)
  • Certain myeloproliferative neoplasms may become acute myeloid leukemia (AML). (merck.com)
  • DS patients may also exhibit congenital heart disease between 40 and 50% of the cases an increased risk for developing Alzheimer's disease, acute megakaryocytic leukemia, Hirschsprung's disease and duodenal atresia. (bvsalud.org)
  • Microarray-based classification of a consecutive series of 121 childhood acute leukemias: prediction of leukemic and genetic subtype as well as of minimal residual disease status. (lu.se)
Called myeloproliferative neoplasms1
  • PV is part of a group of diseases called myeloproliferative neoplasms (MPN). (cdc.gov)
8p11 myeloproliferative syndrome2
  • MLN with FGFR1 rearrangement was previously known as 8p11 myeloproliferative syndrome [ 14 ]. (nature.com)
  • 8p11 myeloproliferative syndrome (EMS) is an aggressive disorder that is associated with a translocation event at the FGFR1 gene on chromosome 8p11. (reactome.org)
Diagnosis4
  • They are used for diagnosis and treatment planning.In suspected cases of ET, doctors test for mutations of the JAK2 , MPL and CALR genes. (lls.org)
  • 1,3 Associated delays in obtaining results can postpone diagnosis and treatment, negatively impact disease management, and be stressful for patients. (oncomine.com)
  • The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis. (cdc.gov)
  • Median age at diagnosis is 72 years and it is an infrequent disease in young adults [ 6 ] [ 7 ] . (encyclopedia.pub)
Chronic8
  • Also indicated to treat pediatric patients with Ph+ chronic phase CML whose disease has recurred after stem cell transplant or who have demonstrated interferon alfa resistance. (medscape.com)
  • Indicated for Philadelphia chromosome-positive chronic myeloid leukemia in adults whose disease has progressed or who cannot tolerate other therapies that include imatinib. (medscape.com)
  • Interferon-Alpha in the Treatment of Philadelphia-Negative Chronic Myeloproliferative Neoplasms. (eurekaselect.com)
  • Administering time-limitedcombination regimens of venetoclax plus obinutuzumab or venetoclax plus obinutuzumab and ibrutinib was superior to chemoimmunotherapy in achieving undetectable measurable residual disease (MRD) in the peripheral blood at month 15 in fit patients with chronic lymphocytic. (ascopost.com)
  • Chronic myeloid leukemia (CML) is a myeloproliferative disease caused due to translocation between chromosome 9 and 22 leading to a chimeric gene product known as Bcr-Abl. (eurekaselect.com)
  • Freireich, E.J. Characteristics of accelerated disease in chronic myelogenous leukemia. (eurekaselect.com)
  • Pediatric patients with Ph+ CML in chronic phase who are newly diagnosed or whose disease has recurred after stem cell transplant or who are resistant to interferon-alpha therapy. (theindianpharma.com)
  • If omics-based assays were applied with appropriate study designs, thorough validation of the markers, and careful interpretation of study results then a bioinformatics database could be built of the human response to different chemical exposures and associated chronic diseases. (who.int)
Types of myeloproliferative1
  • There are many types of myeloproliferative disorder, involving different cell types. (edu.au)
Calreticulin3
  • Over time, we've learned there are other genes like that that can be abnormal, including calreticulin (CALR) or MPL (proto-oncogene, thrombopoietin receptor). (curetoday.com)
  • CALR gene provides instructions for producing the calreticulin protein. (vejthani.com)
  • Calreticulin is believed to influence gene activity, cell growth and division, and programmed cell death. (vejthani.com)
Proteins3
  • These tests, such as polymerase chain reaction (PCR) and DNA sequencing, look for abnormal changes in the genes, chromosomes, proteins or other molecules within the patient's cancer cells. (lls.org)
  • LSD1, also called KDM1A, discovered in 2004, is a member of a group of epigenetic proteins that regulate gene expression through chemical modifications of proteins, RNA and DNA. (merck.com)
  • Although, the number of omic techniques is ever expanding, the most developed omics technologies are high throughput DNA sequencing, transcriptomics (focused on gene expression), epigenomics (focused on epigenetic regulation of gene expression), proteomics (focused on large sets of proteins, the proteome) and metabolomics (focused on large sets of metabolites, the metabolome). (who.int)
Patients24
  • Here we propose comprehensive response criteria based on the heterogenous clinical presentations of patients with MLN with eosinophilia and tyrosine kinase gene fusions. (nature.com)
  • Further, both primary BP disease and secondary BP disease as a consequence of rapid progression from CP, usually within 1-2 years, are reported in many patients [ 6 ]. (nature.com)
  • Patients with very high platelet counts may be tested for acquired von Willebrand disease, a blood disorder that can impair normal blood clotting and cause major bleeding. (lls.org)
  • Further study is needed to identify other mutations that may cause the disease in these patients. (lls.org)
  • Joshua Brody, MD, Director of the CLL/Lymphoma Immunotherapy Program, Icahn School of Medicine at Mount Sinai, New York, who was not involved in these trials, commented: "CLL is an extremely prevalent disease affecting nearly 200,000 patients in the United States. (ascopost.com)
  • Many people with these conditions have few, if any, symptoms, but complications can occur, including stroke in patients with poorly controlled disease. (ucsfhealth.org)
  • Although myeloproliferative neoplasms usually cannot be cured, there are treatments for all patients with the condition. (ucsfhealth.org)
  • JAK2 46/1 haplotype is associated with JAK2 V617F--positive myeloproliferative neoplasms in Brazilian patients. (cdc.gov)
  • Association of TNF polymorphisms with JAK2 (V617F) myeloproliferative neoplasms in Brazilian patients. (cdc.gov)
  • Adult patients with myelodysplastic/myeloproliferative diseases (MDS/MPD) associated with PDGFR (platelet-derived growth factor receptor) gene re-arrangements as determined with an FDA-approved test. (hikma.com)
  • Historically, patients with this debilitating disease have had limited treatment options, and disease-modifying agents were not available. (cancernetwork.com)
  • We look forward to working with the Imago team to further investigate the potential of bomedemstat for patients with myeloproliferative neoplasms. (merck.com)
  • Somatic missense mutations in cancer-related genes were detected in three IHES patients. (oncotarget.com)
  • However, since the current risk stratification of this disease is based on models, including that of ELN, IPSET-Thrombosis and its revised version, mainly applied to an older patients' population, international guidelines are needed that specifically consider how to evaluate the prognosis of AYAs with ET. (bvsalud.org)
  • Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. (lu.se)
  • Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. (lu.se)
  • Although the classification of MDS/MPN relies largely on clinical features and peripheral blood and bone marrow morphology, studies have demonstrated that a large proportion of patients (~90%) with this disease harbor somatic mutations in a group of genes that are common across myeloid neoplasms. (encyclopedia.pub)
  • reactive thrombocytosis does not increase the risk of thrombotic or hemorrhagic complications unless patients have severe arterial disease or prolonged immobility. (msdmanuals.com)
  • Occasional patients have had a chromosomal rearrangement with a 4q12 breakpoint, such as t(1;4)(q44;q12), which ultimately led to the identification of the fusion gene or t(4;10)(q12;p11) (Cools et al. (atlasgeneticsoncology.org)
  • of solid tumours, but research on the correlation between PRAME and TRAIL gene expression in leukaemia patients is rare. (karger.com)
  • The experience with imatinib in patients with MDS/MPD associated with PDGFR gene re-arrangements is very limited (see section 5.1). (tajgenerics.com)
  • Down Syndrome (DS) patients have increased susceptibility to the development of periodontal diseases by the occurrence of several factors, such as inadequate hygiene, mouth breathing, dental morphology, leukocyte reduction and increased inflammatory mediators. (bvsalud.org)
  • Excluding left-sided heart disease, including diastolic dysfunction, is especially important in these patients because of major treatment implications. (medscape.com)
  • [ 2 ] Options for second-line therapy in patients with relapsed/refractory disease include chemotherapy-free regimens with biologic targeted agents such as covalent Bruton tyrosine kinase (BTK) inhibitors, lenalidomide,venetoclax, and chimeric antigen receptor (CAR) T-cell therapy. (medscape.com)
V617F1
  • Angiogenesis and vascular endothelial growth factor-/receptor expression in myeloproliferative neoplasms: correlation with clinical parameters and JAK2-V617F mutational status. (cdc.gov)
20162
  • Blood cells, molecules & diseases 2016 Jul 59 25-30. (cdc.gov)
  • Genes Chromosomes and Cancer 2016;55;11:847-54. (lu.se)
Clinical5
  • The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms. (cdc.gov)
  • These mutations play a role in the clinical heterogeneity of these diseases and their clinical evolution. (encyclopedia.pub)
  • Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) constitute a heterogeneous group of clonal myeloid malignancies with clinical, laboratory, morphologic and genetic features that overlap with myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN). (encyclopedia.pub)
  • CGP optimizes your testing strategy by comprehensively covering all clinically relevant genes , including both diagnostic and prognostic markers and markers that may influence participation in clinical trials. (neogenomics.com)
  • There are no controlled trials demonstrating a clinical benefit or increased survival for these diseases. (tajgenerics.com)
Disorder2
Syndrome3
  • Prevalence of the RAS mutations varied among cancer types - 74% in pancreatic cancers, 43.5% in colorectal cancers, 29.7% in non-small cell lung cancers, 25.3% in melanoma , 20.9% in cancer of unknown primary origin, 5.9% in precancerous blood and bone marrow diseases (myelodysplastic/myeloproliferative syndrome), and 1.5% in central nervous system tumors. (news-medical.net)
  • Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease. (lu.se)
  • The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. (lu.se)
Leukemia2
  • MPL gene, which stands for myeloproliferative leukemia virus, is an oncogene. (vejthani.com)
  • Using a candidate gene approach, 5 mutated genes including ASXL1 , SRSF2 , EZH2 , IDH1 , and IDH2 , were associated with shorter overall survival and leukemia-free survival, defining a high-molecular risk category. (ajmc.com)
Platelets3
  • When the MPL gene mutates, it triggers a cascade of events that leads to excessive production of platelets by the overactive stem cells. (vejthani.com)
  • Myeloproliferative neoplasms are a group of diseases of the bone marrow characterized by excessive production of red blood cells, platelets, or certain white blood cells. (merck.com)
  • Overview of Myeloproliferative Neoplasms Myeloproliferative neoplasms are clonal proliferations of bone marrow stem cells, which can manifest as an increased number of platelets, red blood cells (RBCs), or white blood cells (WBCs). (msdmanuals.com)
Myeloid neoplasms3
  • Different factors are associated with leukemic evolution in MPN, but generally include advanced age, leukocytosis, exposure to myelosuppressive therapy, cytogenetic abnormalities, and increased number of mutations in genes associated with myeloid neoplasms. (ajmc.com)
  • Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are myeloid neoplasms characterized by the presentation of overlapping features from both myelodysplastic syndromes and myeloproliferative neoplasms. (encyclopedia.pub)
  • [ 2 ] This classification of myeloid neoplasms also includes a collection of heterogeneous neoplasms that share features of MDS and myeloproliferative neoplasms. (medscape.com)
Translocation4
  • The defining cytogenetic abnormality, a translocation at the 8p11 locus, was found to involve the FGFR1 gene [ 14 ]. (nature.com)
  • At the molecular level, EMS appears to be caused by translocation events on chromosome 8 that create gene fusions between the intracellular domain of FGFR1 and an N-terminal partner gene that encodes a dimerization domain. (reactome.org)
  • This translocation involves the immunoglobulin heavy-chain gene on chromosome 14 and the BCL1 locus on chromosome 11. (medscape.com)
  • The molecular consequence of translocation is overexpression of the protein cyclin D1 (coded by the PRAD1 gene located close to the breakpoint). (medscape.com)
Protein9
  • The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. (medlineplus.gov)
  • JAK2 gene mutations result in the production of a constitutively activated JAK2 protein, which seems to improve the survival of the cell and increase production of blood cells. (medlineplus.gov)
  • These JAK2 gene mutations result in a constitutively active JAK2 protein, which leads to the overproduction of abnormal megakaryocytes. (medlineplus.gov)
  • JAK2V617F , an altered version of the gene for the JAK2 signalling protein. (edu.au)
  • The protein encoded by this gene, together with spectrin and actin, constitute the red cell membrane cytoskeletal network. (cancerindex.org)
  • What does this gene/protein do? (cancerindex.org)
  • What pathways are this gene/protein implicaed in? (cancerindex.org)
  • JAK2 gene encodes the JAK2 protein, which plays a role in controlling how stem cells produce blood cells. (vejthani.com)
  • Bcr-Abl fusion protein has constitutively activated Abl tyrosine kinase activity which is responsible for the uncontrolled proliferation in CML The tyrosine kinase inhibitors (TKIs) such as Imatinib, Dasatinib, and Nilotinib are the current first-line treatments approved by the United States Food and Drug Administration (US FDA) for the treatment of the disease. (eurekaselect.com)
Symptoms1
  • It's a disease that can cause more significant symptoms, including weight loss, fatigue and symptoms from the spleen. (curetoday.com)
Malignancies1
  • Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies. (lu.se)
CALR3
  • Specifically, the mutations affect the genes JAK2, CALR, and MPL, which are responsible for regulating the production of blood cells in the bone marrow. (vejthani.com)
  • Mutations in the CALR gene can impact these processes. (vejthani.com)
  • Coexisting JAK2V617F and CALR Exon 9 Mutations in Myeloproliferative Neoplasms - Do They Designate a New Subtype? (cdc.gov)
Genetic5
  • Researchers at the Johns Hopkins Kimmel Cancer Center, three other cancer centers and the Johns Hopkins Bloomberg School of Public Health compiled a comprehensive genetic architecture atlas for mutant RAS genes in human cancers. (news-medical.net)
  • They studied the cancer type-specific prevalence of KRAS , NRAS and HRAS mutant alleles (alternative forms of a gene) at codons (units of genetic code) 12, 13 and 61 in the overall population and stratified their results by patient age, race and gender. (news-medical.net)
  • Accordingly, since AYAs with ET represent a unique disease subset defined by attenuated genetic risk, more indolent phenotype, and longer survival than their older counterparts, treatment selection requires special attention to specific issues such as the risk of fibrotic/leukemic transformation, carcinogenicity, and fertility. (bvsalud.org)
  • Enhanced rare disease mapping for phenome-wide genetic association in the UK Biobank. (cdc.gov)
  • Genetic Aspects of Myelodysplastic/Myeloproliferative Neoplasms" Encyclopedia , https://encyclopedia.pub/entry/10288 (accessed December 10, 2023). (encyclopedia.pub)
Hematology1
  • Two posters set to be presented at the 65th American Society of Hematology Annual Meeting & Exposition met their primary and secondary end points regarding exagamglogene autotemcel therapy for sickle cell disease and Ī²-thalassemia. (ajmc.com)
Classification3
  • In the recent fifth edition of the World Health Organization classification, similar to the recent update to the International Consensus Classification, the category was renamed to "myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions" and both classifications added novel subtypes with new JAK2 rearrangements (e.g. (nature.com)
  • According to the World Health Organization (WHO) classification, myeloproliferative neoplasms are divided into 4 major types. (bjbms.org)
  • As such, in 2022, the World Health Organization (WHO) updated its classification of myelodysplastic syndromes, replacing the term "syndromes" with "neoplasms" to reflect the neoplastic biology of these diseases. (medscape.com)
PDGFRA2
  • Our data show that a subset of IHES may be of clonal origin not related to the classical molecular aberrations of FGFR, PDGFRA/B , or T-cells, and that the initiating hits could be point mutations in a variety of genes, including spliceosome mutations or hypermethylated tumor suppressor genes. (oncotarget.com)
  • One of the best techniques to detect the presence of the FIP1L1-PDGFRA fusion gene is using triple-color FISH probes hybridizing to the region between the FIP1L1 and PDGFRA genes incorporating the CHIC2 (cysteine-rich hydrophobic domain 2) gene. (atlasgeneticsoncology.org)
20221
  • Blood cells, molecules & diseases 2022 8 97 102698. (cdc.gov)
TET22
  • Transcriptional profiling revealed that both Jak2V617F expression and Tet2 loss were associated with distinct and nonoverlapping gene expression signatures within the HSC compartment. (westminster.ac.uk)
  • In aggregate, our findings indicate that Tet2 loss drives clonal dominance in HSCs, and Jak2V617F expression causes expansion of downstream precursor cell populations, resulting in disease progression through combinatorial effects. (westminster.ac.uk)
Janus1
  • We believe what occurs is that in the bone marrow, one of the key genes that is kind of like the operating system on a computer, called JAK2 (Janus kinase 2), is broken, or is mutated. (curetoday.com)
Group of diseases1
Cancer6
  • Our scientists pursue every aspect of cancer research-from exploring the biology of genes and cells, to developing immune-based treatments, uncovering the causes of metastasis, and more. (mskcc.org)
  • The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)
  • Using Ingenuity pathway analysis, we found that differentially methylated genes were highly enriched in functional pathways such as cancer, cell death and survival, and hematological disease. (oncotarget.com)
  • Genes Chromosomes Cancer 2008(1): 26-33 [ PubMed abstract ]. (lu.se)
  • Genes Chromosomes Cancer 2007(6): 517-21 [ PubMed abstract ]. (lu.se)
  • Genes Chromosomes Cancer 2006(6): 583-91 [ PubMed abstract ]. (lu.se)
Cancers1
  • Given the role that LSD1 plays in the function of malignant blood cells, targeting LSD1 for the treatment of blood cancers offers a new mechanism for the treatment of diseases associated with high morbidity and mortality. (merck.com)
Eosinophilia2
  • Furthermore, reactive eosinophilia samples could be differentiated from known- and suspected clonal eosinophilia samples based on 285 differentially methylated CpG sites corresponding to 128 differentially methylated genes. (oncotarget.com)
  • No monocytosis, EOSINOPHILIA, or basophilia is present, nor is there a PHILADELPHIA CHROMOSOME or bcr-abl fusion gene (GENES, ABL). (bvsalud.org)
Blood4
  • Although this test is not used to diagnose ET, if the results show that there is an abnormal amount of a particular substance in the blood, it may be a sign of disease or some other health problem. (lls.org)
  • Myeloproliferative neoplasms progress over time as the number of extra cells build up in the blood and/or bone marrow. (merck.com)
  • An aggressive disease (rapid onset and progression) that occurs primarily in adulthood and is marked by an abnormal increase and accumulation of myeloblasts (immature myeloid cells) in the bone marrow and blood, which leads to impaired hematopoiesis and bone marrow failure. (oncomine.com)
  • Myeloproliferative neoplasms are blood diseases that affect the normal production of blood cells in the bone marrow. (bjbms.org)
Clonal proliferation1
  • These are heterogenous diseases, originating from the clonal proliferation of myeloid stem cells, resulting in increased mature cell numbers in one or more myeloid lineages. (bvsalud.org)
Myelofibrosis4
  • Somatic JAK2 gene mutations are also associated with primary myelofibrosis, a condition in which bone marrow is replaced by scar tissue (fibrosis). (medlineplus.gov)
  • In myelofibrosis, the disease is a little different. (curetoday.com)
  • In myelofibrosis, there can be a risk of the disease being life-threatening or fatal. (curetoday.com)
  • 1] PV and ET are both capable of progressing to a fibrotic stage that clinically resembles PMF, and collectively these three disease entities are termed myelofibrosis (MF). (cancernetwork.com)
Occur1
Primary1
  • Primary pulmonary hypertension (PPH) is a rare disease characterized by elevated pulmonary artery pressure with no apparent cause. (medscape.com)
Characterization1
  • A recent review examined the current evidence regarding risk factors, molecular characterization, and treatment options for myeloproliferative neoplasms. (ajmc.com)
Tumor1
  • Here, we show that one of the target genes induced by STAT5 is suppressor of cytokine signaling (SOCS)1 - a surprising finding for a known tumor suppressor. (ku.dk)
Hematopoietic2
  • Accordingly, enforced expression of SKI induced a gene signature associated with hematopoietic stem cells and myeloid differentiation, as well as hepatocyte growth factor signaling. (edu.au)
  • Collectively our results demonstrate that SKI is an important regulator of hematopoietic stem cell activity and its overexpression leads to myeloproliferative disease. (edu.au)