keyword
MENU ▼
Read by QxMD icon Read
search

JAK2 V617F

keyword
https://www.readbyqxmd.com/read/27895669/myeloproliferative-disease-an-unusual-cause-of-raynaud-s-phenomenon-and-digital-ischaemia
#1
Celia Beynon, Gwenan Huws, Tom Lawson
We describe a 59-year-old female who presented with ischaemic digits, preceded by a 6-month history of Raynaud's phenomenon affecting her fingers and toes. There were no clinical or laboratory features of primary vasculitis or connective tissue disease, Doppler imaging was normal, and bloods were unremarkable aside from a platelet count of 786 × 109/L (150-400) and white cells of 16 × 109/L (4-11). In view of the thrombocytosis a JAK2 mutation assay was requested which confirmed a JAK2 V617F mutation, suggesting essential thrombocytosis (ET) as the cause...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27892678/characterization-and-prognosis-significance-of-jak2-v617f-mpl-and-calr-mutations-in-philadelphia-negative-myeloproliferative-neoplasms
#2
Roongrudee Singdong, Teerapong Siriboonpiputtana, Takol Chareonsirisuthigul, Adcharee Kongruang, Nittaya Limsuwanachot, Tanasan Sirirat, Suporn Chuncharunee, Budsaba Rerkamnuaychoke
Background: The discovery of somatic acquired mutations of JAK2 (V617F) in Philadelphia-negative myeloproliferative neoplasms (Ph-negative MPNs) including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) has not only improved rational disease classification and prognostication but also brings new understanding insight into the pathogenesis of diseases. Dosage effects of the JAK2 (V617F) allelic burden in Ph-negative MPNs may partially influence clinical presentation, disease progression, and treatment outcome...
January 10, 2016: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/27889820/ruxolitinib-in-clinical-practice-for-primary-and-secondary-myelofibrosis-an-analysis-of-safety-and-efficacy-of-gruppo-laziale-of-ph-negative-mpn
#3
Massimo Breccia, Alessandro Andriani, Marco Montanaro, Elisabetta Abruzzese, Francesco Buccisano, Michele Cedrone, Antonietta Centra, Nicoletta Villivà, Francesca Celesti, Malgorzata Monica Trawinska, Fulvio Massaro, Ambra Di Veroli, Barbara Anaclerico, Gioia Colafigli, Matteo Molica, Antonio Spadea, Luca Petriccione, Giuseppe Cimino, Roberto Latagliata
Ruxolitinib, a JAK1 and JAK2 inhibitor, has been tested and approved for the treatment of primary and secondary myelofibrosis (MF). Aim of our study is to report safety and efficacy of ruxolitinib in 98 patients affected by MF treated outside clinical trials and collected and treated consecutively by the Lazio Cooperative Group for Ph negative myeloproliferative diseases.There were 45 males and 53 females; median age was 61.8 years (range 35.3-88). Forty-five patients were diagnosed as primary MF and 53 as secondary MF...
November 26, 2016: Annals of Hematology
https://www.readbyqxmd.com/read/27884974/from-leeches-to-personalized-medicine-evolving-concepts-in-the-management-of-polycythemia-vera
#4
Alessandro Maria Vannucchi
Polycythemia vera (PV), a clonal disorders of hematopoietic stem/progenitor cells that manifests with prevalent expansion of red cell mass, is the most frequent among chronic myeloproliferative neoplasms (MPN). It is characterized by a V617F point mutation in JAK2 exon 14 , or less common mutations in exon 12, in virtually all cases. The landmark discovery of autonomously activated JAK/STAT signaling pathway paved the way for the clinical development of the first target drug, the JAK1 and JAK2 inhibitor ruxolitinib, that is now approved for patients with resistance or intolerance to hydroxyurea...
November 24, 2016: Haematologica
https://www.readbyqxmd.com/read/27875935/jak2-mpl-and-calr-mutations-in-chinese-han-patients-with-essential-thrombocythemia
#5
Jing Wang, Biao Zhang, Bing Chen, Rong-Fu Zhou, Qi-Guo Zhang, Juan Li, Yong-Gong Yang, Min Zhou, Xiao-Yan Shao, Yong Xu, Xi-Hui Xu, Jian Ouyang, Jingyan Xu, Qing Ye
BACKGROUND: Mutations in Janus kinase 2 (JAK2), myeloproliferative leukemia (MPL), and CALR are highly relevant to Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms. METHODS: Assessing the prevalence of molecular mutations in Chinese Han patients with essential thrombocythemia (ET), and correlating their mutational profile with disease characteristics/phenotype. RESULTS: Of the 110 subjects studied, 62 carried the JAK2 V617F mutation, 21 had CALR mutations, one carried an MPL (W515) mutation, and 28 had non-mutated JAK2, CALR, and MPL (so-called triple-negative ET)...
November 22, 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/27865175/jak2-v617f-mutant-vascular-niche-contributes-to-jak2-v617f-clonal-expansion-in-myeloproliferative-neoplasms
#6
Chi Hua Sarah Lin, Kenneth Kaushansky, Huichun Zhan
The myeloproliferative neoplasms (MPNs) are characterized by hematopoietic stem/progenitor cell (HSPC) expansion and overproduction of blood cells. The acquired mutation JAK2(V617F) plays a central role in these disorders. Mechanisms responsible for MPN HSPC expansion is not fully understood, limiting the effectiveness of current treatments. Endothelial cells (ECs) carrying the JAK2(V617F) mutation can be detected in patients with MPNs, suggesting that ECs are involved in the pathogenesis of MPNs. Here we report that JAK2(V617F)-bearing primary murine ECs have increased cell proliferation and angiogenesis in vitro compared to JAK2(WT) ECs...
November 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27855276/detection-of-calr-and-mpl-mutations-in-low-allelic-burden-jak2-v617f-essential-thrombocythemia
#7
Fabrice Usseglio, Nathalie Beaufils, Anne Calleja, Sophie Raynaud, Jean Gabert
Myeloproliferative neoplasms are clonal hematopoietic stem cell disorders characterized by aberrant proliferation and an increased tendency toward leukemic transformation. The genes JAK2, MPL, and CALR are frequently altered in these syndromes, and their mutations are often a strong argument for diagnosis. We analyzed the mutational profiles of these three genes in a cohort of 164 suspected myeloproliferative neoplasms. JAK2 V617F mutation was detected by real-time PCR, whereas high-resolution melting analysis followed by Sanger sequencing were used for searching for mutations in JAK2 exon 12, CALR, and MPL...
November 14, 2016: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27812253/jak2-v617f-mutation-in-adult-t-cell-leukemia-lymphoma
#8
Hossein Ayatollahi, Mohammad Hadi Sadeghian, Mohammad Reza Keramati, Ehsan Ghayoor Karimiani, Amir Hossein Jafarian, Abbas Shirdel, Hossein Rahimi, Mohammad Esmaeel Zangane-Far, Arezoo Shajiei, Maryam Sheikhi
Adult T cell Leukemia/lymphoma (ATL) is a mature T-cell neoplasm that has strong association with the human T-lymphotropic virus type 1 (HTLV-I) infection. This infection is endemic in our region (north eastern Iran). It has been highlighted that Janus Kinase family proteins and specially JAK2 mutations have a pivotal role in the development of many types of hematological malignancies and in particular myeloproliferative neoplasms. So far, the underlying molecular mechanisms leading to the ATL are not well understood...
December 2016: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/27784744/genetic-and-pharmacologic-targeting-of-alox5-attenuates-jak2v617f-induced-polycythemia-vera-in-mice
#9
Yaoyu Chen, Yi Shan, Min Lu, Ngoc DeSouza, Zhiru Guo, Ronald Hoffman, Ai-Bing Liang, Shaoguang Li
Myeloproliferative neoplasms such as polycythemia vera (PV) which are associated with the JAK mutation V617F remain uncurable, despite progress in the use of JAK2 inhibitors for treatment of some of these diseases. In this study, we employed mice that undergo JAK2V617F-induced PV as a tool to explore new candidate targets for therapy. Our investigations focused on the lipid metabolic enzyme arachidonate 5-lipoxygenase (Alox5), which we found to be strongly upregulated by JAK2V617F in hematopoietic cells in vitro and in vivo...
October 26, 2016: Cancer Research
https://www.readbyqxmd.com/read/27777768/jak2-v617f-mutation-multiple-hematologic-and-non-hematologic-processes-an-association
#10
Kenneth G Liu, Amit Verma, Olga Derman, Noah Kornblum, Murali Janakiram, Ira Braunschweig, Ramakrishna Battini
BACKGROUND: Population studies showed that patients with JAK2 V617F mutation had increased mortality, and increased risk of any cancer, hematologic cancer, and myeloproliferative disease. CASE PRESENTATION: A 68-year-old Asian male with JAK2 V617F mutation developed four different hematologic and non-hematologic neoplastic processes. In 2009, he was diagnosed with stage IA lung adenocarcinoma and also noted to have worsening leukocytosis and thrombocytosis with peak platelet count of 1,054,000/mL)...
2016: Biomarker Research
https://www.readbyqxmd.com/read/27752371/myeloproliferative-neoplasm-or-reactive-process-a-rare-case-of-acute-myeloid-leukemia-and-transient-posttreatment-megakaryocytic-hyperplasia-with-jak-2-mutation
#11
Steven Wang, Jie Yan, Guangde Zhou, Rebecca Heintzelman, J Steve Hou
Myeloproliferative neoplasms (MPNs) are hematopoietic malignancies characterized by unchecked proliferation of differentiated myeloid cells. The most common BCR-ABL1-negative MPNs are polycythemia vera, essential thrombocythemia, and primary myelofibrosis. The discovery of JAK2 V617F mutation has improved our understanding of the molecular basis of MPN. The high frequency of JAK2 mutation in MPN makes JAK2 mutation testing an essential diagnostic tool and potential therapeutic target for MPN. Here, we present a rare case of a 34-year-old patient who was initially diagnosed with acute myeloid leukemia (AML) with mutated NPM1...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27748177/a-phenotypic-screen-for-small-molecule-inhibitors-of-constitutively-active-mutant-thrombopoietin-receptor-implicated-in-myeloproliferative-neoplasms
#12
Anna Ngo, Ann Koay, Christian Pecquet, Carmen C Diaconu, Yasmine Ould-Amer, Qiwei Huang, Congbao Kang, Anders Poulsen, May Ann Lee, David Jenkins, Andrew Shiau, Stefan N Constantinescu, Meng Ling Choo
BACKGROUND: Rather than a Janus Kinase 2 inhibitor (ruxolitinib), a specific thrombopoietin receptor (TpoR) inhibitor would be more specific for the treatment of myeloproliferative neoplasms due to TpoR mutations. OBJECTIVE: A cell-based phenotypic approach to identify specific TpoR inhibitors was implemented and a library of 505,483 small molecules was screened for inhibitory effects on cells transformed by TpoR mutants. RESULTS: Among the identified hits are two analogs of 3-(4-piperidinyl) indole...
October 10, 2016: Combinatorial Chemistry & High Throughput Screening
https://www.readbyqxmd.com/read/27729820/ruxolitinib-in-the-treatment-of-polycythemia-vera-patient-selection-and-special-considerations
#13
Sabine Blum, Filipe Martins, Lorenzo Alberio
The discovery of JAK2 V617F mutation in the mid-2000s started to fill the gap between clinical presentation of polycythemia vera (PV), first described by Vaquez at the end of the 19th century, and spontaneous erythroid colony formation, reported by Prchal and Axelrad in the mid-1970s. The knowledge on this mutation brought an important insight to our understanding of PV pathogenesis and led to a revision of the World Health Organization diagnostic criteria in 2008. JAK-STAT is a major signaling pathway implicated in survival and proliferation of hematopoietic precursors...
2016: Journal of Blood Medicine
https://www.readbyqxmd.com/read/27697978/practice-patterns-in-the-diagnosis-and-treatment-of-polycythemia-vera-in-the-post-jak2-v617f-discovery-era
#14
Elizabeth M Kander, Alison R Moliterno, Alfred Rademaker, Michael B Streiff, Jerry L Spivak, Brady L Stein
Polycythemia vera (PV) is an acquired clonal hematopoietic stem cell disorder characterized by an overproduction of red blood cells, white blood cells, and platelets; thrombotic and hemorrhagic complications; and an increased risk of transformation to myelofibrosis and acute leukemia. In 1967, the Polycythemia Vera Study Group proposed the optimal approach to diagnosis and treatment of PV, and in 2002, investigators from Johns Hopkins University School of Medicine surveyed the practice patterns of hematologists as they pertained to PV...
October 2016: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/27693837/massive-upper-gastrointestinal-bleeding-due-to-splenoportal-axis-thrombosis-in-a-patient-with-a-tested-jak2-mutation-a-case-report-and-review-literature
#15
Isabel Macías
Portal hypertension is a clinical syndrome defined as a portal venous pressure that exceeds 10mmHg. Cirrhosis is the most common cause of portal hypertension and thrombosis of the splenoportal axis not associated with liver cirrhosis is the second cause of portal hypertension in the Western world. The primary myeloproliferative disorders are the main cause of portal venous thrombosis and somatic mutation of Janus Kinase 2 gene (JAK2 V617F) can be found in approximately 90% of polycythemia vera, 50% of essential thrombocyrosis and 50% primary myelofibrosis...
August 13, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27686378/an-accurate-simple-prognostic-model-consisting-of-age-jak2-calr-and-mpl-mutation-status-for-patients-with-primary-myelofibrosis
#16
Uri Rozovski, Srdan Verstovsek, Taghi Manshouri, Vilma Dembitz, Ksenija Bozinovic, Kate Newberry, Ying Zhang, Joseph E Bove, Sherry Pierce, Hagop Kantarjian, Zeev Estrov
In most patients with primary myelofibrosis, one of three mutually exclusive somatic mutations is detected. In approximately 60% of patients, the Janus kinase 2 gene is mutated; in 20%, the calreticulin gene is mutated; and in 5%, the myeloproliferative leukemia virus gene is mutated. Although patients with mutated calreticulin or myeloproliferative leukemia have a favorable outcome and those with none of these mutations have an unfavorable outcome, prognostication based on mutation status is challenging owing to the heterogeneous survival of patients with mutated Janus kinase 2...
September 29, 2016: Haematologica
https://www.readbyqxmd.com/read/27686170/cal2-immunohistochemical-staining-accurately-identifies-calr-mutations-in-myeloproliferative-neoplasms
#17
Laila Nomani, Juraj Bodo, Xiaoxian Zhao, Lisa Durkin, Sanam Loghavi, Eric D Hsi
OBJECTIVES: Mutations in CALR (calreticulin) have been discovered in 50% to 80% of JAK2 (Janus kinase 2) and MPL (myeloproliferative leukemia protein) wild-type patients with Philadelphia-negative myeloproliferative neoplasm (MPNs). We evaluate the performance of a monoclonal antibody for immunohistochemical detection of CALR mutations. METHODS: A computerized archival search was performed for cases of non-chronic myeloid leukemia (CML) MPNs with available CALR and JAK2 V617F mutational analysis data...
October 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/27662324/coexistence-of-lymphoproliferative-and-myeloproliferative-neoplasms-with-simultaneous-calr-and-jak2-v617f-mutations
#18
Hai-Su Yang
BACKGROUND: Hematopoietic malignancies are a group of blood cell disorders characterized by abnormal hematopoietic proliferation. OBJECTIVE: The identification of specific clinicopathologic characteristics and tumor-related gene status provides critical information on potential therapeutic targets. METHODS: The specimens were tested with immunohistochemistry, flow cytometry, RT-PCR and fragment analysis. RESULTS: In this study, a patient with a long history of tobacco use was reported with a diagnosis of simultaneous low-grade B-cell lymphoproliferative disorder (LPD) and myeloproliferative neoplasm (MPN)...
September 18, 2016: Cancer Biomarkers: Section A of Disease Markers
https://www.readbyqxmd.com/read/27646892/-characterization-of-mutational-pattern-in-patients-with-ph-negative-myeloproliferative-neoplasms
#19
F Xing, Y N Lin, Q Sun, L Qin, Y J Jia, D L Zhang, K Ru
Objective: To characterize the molecular profile in patients with Ph negative myeloproliferative neoplasms (MPN) by exploring 49 gene mutations. Methods: Targeted gene sequencing were performed to analyze 49 MPN-associated genes in 51 patients with Ph negative MPN, of which CARL (exon 9), NPM1 (exon 12) and CEBPA (TAD, BZIP domains) were investigated by using Sanger sequencing simultaneously, while FLT3-ITD was assessed by PCR method. Results: Mutations were detected in 73.5% (36/49) of genes, and the mutational rates of JAK2-V617F, CALR (exon 9) and MPL were 60...
September 8, 2016: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/27633031/low-frequency-of-v617f-mutation-in-jak2-gene-in-indian-patients-with-hepatic-venous-outflow-obstruction-and-extrahepatic-portal-venous-obstruction
#20
Praveer Rai, Pankaj Kumar, Swapnil Mishra, Rakesh Aggarwal
BACKGROUND: Hepatic venous outflow tract obstruction (HVOTO) and extrahepatic portal venous obstruction (EHPVO) are important causes of portal hypertension and related complications in India. Both these conditions result from splanchnic venous thrombosis. In recent years, a V617F somatic mutation in Janus kinase 2 (JAK2) gene which is highly specific for myeloproliferative disorders has been detected in 40 % to 50 % and 30 % to 35 % of Western patients with HVOTO and EHPVO, respectively...
September 2016: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
keyword
keyword
115793
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"