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JAK2 V617F

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https://www.readbyqxmd.com/read/29150911/jak2-v617f-mutation-can-be-reliably-detected-in-serum-using-droplet-digital-pcr
#1
C F Nystrand, W Ghanima, A Waage, C M Jonassen
INTRODUCTION: Detection of the JAK2 V617F mutation is a key step in the diagnosis of myeloproliferative neoplasms (MPN). Sensitive real-time quantitative PCR (qPCR) detection on peripheral blood (PB) is the most widely used method. The main objective of this study was to determine whether serum, the most common material available in archival biobanks, is a good liquid biopsy for detecting and quantifying the JAK2 V617F mutation using droplet digital PCR (ddPCR). METHODS: Paired PB and serum samples from 66 patients with MPN were used...
November 17, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29123956/mutations-in-jak2-and-calreticulin-genes-are-associated-with-specific-alterations-of-the-immune-system-in-myelofibrosis
#2
Marco Romano, Daria Sollazzo, Sara Trabanelli, Martina Barone, Nicola Polverelli, Margherita Perricone, Dorian Forte, Simona Luatti, Michele Cavo, Nicola Vianelli, Camilla Jandus, Francesca Palandri, Lucia Catani
Myelofibrosis (MF) is a clonal neoplasia associated with chronic inflammation due to aberrant cytokine production. Mutations in Janus Kinase-2 (JAK2), calreticulin (CALR) and myeloproliferative leukemia protein (MPL) genes have been recently associated to MF and they all activate the JAK/STAT signaling pathway. Since this pathway is essential in shaping the immune response, we investigated the role of circulating immune subsets and cytokines in 38 patients (20 carrying JAK2((V617F)),13 exon-9 CALR mutation and 5 triple negative)...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/29101828/jak2-v617f-detection-and-allele-burden-measurement-in-saliva-vs-peripheral-blood-in-patients-with-myelofibrosis
#3
Paolo Strati, Christopher B Benton, Taghi Manshouri, Ying Zhang, Joseph E Bove, Gabriela Sanchez-Petitto, Srdan Verstovsek
We previously demonstrated that peripheral blood (PB) is a reliable source for testing JAK2(V617F) mutation in patients with myelofibrosis (MF); saliva has also been tested to detect such mutation, however its diagnostic accuracy as compared to PB has not been validated. In this study, we prospectively tested 167 patients with MF for JAK2(V617F) mutation, using both saliva and PB collected at the same time from each patient. The concordance between the 2 sources was 96%, with a sensitivity of 100% and a specificity of 90%...
October 31, 2017: Leukemia Research
https://www.readbyqxmd.com/read/29100304/germline-variations-at-jak2-tert-hbs1l-myb-and-mecom-and-the-risk-of-myeloproliferative-neoplasms-in-taiwanese-population
#4
Yi-Hao Chiang, Yu-Cheng Chang, Huan-Chau Lin, Ling Huang, Chun-Chia Cheng, Wei-Ting Wang, Hung-I Cheng, Nai-Wen Su, Caleb Gon-Shen Chen, Johnson Lin, Yi-Fang Chang, Ming-Chih Chang, Ruey-Kuen Hsieh, Wen-Chien Chou, Ken-Hong Lim, Yuan-Yeh Kuo
Germline variations at JAK2, TERT, HBS1L-MYB and MECOM have been found to associate with myeloproliferative neoplasms (MPNs) in European populations. Whether these germline variations are associated with MPNs in Taiwanese population is obscure. Here we aimed to evaluate the association of five germline variations (JAK2 46/1 haplotype tagged by rs12343867, JAK2 intron 8 rs12339666, TERT rs2736100, HBS1L-MYB rs9376092 and MECOM rs2201862) and the risk of MPNs in Taiwanese population. A total of 178 MPN patients (109 essential thrombocythemia, 54 polycythemia vera and 15 primary myelofibrosis) were enrolled into this study...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29082853/cancer-gene-profiling-in-non-small-cell-lung-cancers-reveals-activating-mutations-in-jak2-and-jak3-with-therapeutic-implications
#5
Shuyu D Li, Meng Ma, Hui Li, Aneta Waluszko, Tatyana Sidorenko, Eric E Schadt, David Y Zhang, Rong Chen, Fei Ye
BACKGROUND: Next-generation sequencing (NGS) of cancer gene panels are widely applied to enable personalized cancer therapy and to identify novel oncogenic mutations. METHODS: We performed targeted NGS on 932 clinical cases of non-small-cell lung cancers (NSCLCs) using the Ion AmpliSeq™ Cancer Hotspot panel v2 assay. RESULTS: Actionable mutations were identified in 65% of the cases with available targeted therapeutic options, including 26% of the patients with mutations in National Comprehensive Cancer Network (NCCN) guideline genes...
October 30, 2017: Genome Medicine
https://www.readbyqxmd.com/read/29066347/jak2v617f-influences-epigenomic-changes-in-myeloproliferative-neoplasms
#6
Chih-Cheng Chen, Chia-Chen Chiu, Kuan-Der Lee, Chia-Chen Hsu, Hong-Chi Chen, Tim H-M Huang, Shu-Huei Hsiao, Yu-Wei Leu
Negative valine (V) to phenylalanine (F) switch at the Janus kinase (JAK2) 617 codon (V617F) is the dominant driver mutation in patients with myeloproliferative neoplasms (MPNs). JAK2V617F was proved to be sufficient for cell transformation; however, independent mutations might influence the following epigenomic modifications. To assess the JAK2V617F-induced downstream epigenomic changes without interferences, we profiled the epigenomic changes in ectopically expressed JAK2V617F in Ba/F3 cells. Antibodies against phosphorylated signal transducer and activator of transcription 3 (pSTAT3) and enhancer of zeste homolog 2 (EZH2) were used for chromatin-immunoprecipitation sequencing (ChIP-seq) to detect the downstream epigenomic targets in the JAK2-STAT3 signaling pathway...
October 21, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29047144/mecom-hbs1l-myb-thrb-rarb-jak2-and-tert-polymorphisms-defining-the-genetic-predisposition-to-myeloproliferative-neoplasms-a-study-on-939-patients
#7
Adrian P Trifa, Claudia Bănescu, Anca S Bojan, Cristian M Voina, Ștefana Popa, Simona Vișan, Alina D Ciubean, Florin Tripon, Delia Dima, Viola M Popov, Ștefan C Vesa, Mihaela Andreescu, Tünde Török-Vistai, Romeo G Mihăilă, Nicoleta Berbec, Ioan Macarie, Andrei Coliță, Maria Iordache, Alina C Cătană, Marius F Farcaș, Ciprian Tomuleasa, Kinga Vasile, Cristina Truică, Adriana Todincă, Lavinia Pop-Muntean, Raluca Manolache, Horia Bumbea, Ana-Maria Vlădăreanu, Mihaela Gaman, Cristina M Ciufu, Radu A Popp
Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes. JAK2 46/1 and TERT rs2736100 polymorphisms are known to significantly predispose to MPN. This study aimed to establish the additional contribution of the recently described MECOM rs2201862, HBS1L-MYB rs9376092 and THRB-RARB rs4858647 polymorphisms to the occurrence of MPN. These three polymorphisms, along with JAK2 46/1 and TERT rs2736100 were genotyped in 939 MPN patients (454 with ET, 337 with PV and 148 with PMF) and 483 controls...
October 19, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/29042365/ruxolitinib-induced-defects-in-dna-repair-cause-sensitivity-to-parp-inhibitors-in-myeloproliferative-neoplasms
#8
Margaret Nieborowska-Skorska, Silvia Maifrede, Yashodhara Dasgupta, Katherine Sullivan, Sylwia Flis, Bac Viet Le, Martyna Solecka, Elizaveta A Belyaeva, Lucia Kubovcakova, Morgan Nawrocki, Martin Kirschner, Huaqing Zhao, Josef T Prchal, Katarzyna Piwocka, Alison R Moliterno, Mariusz Wasik, Steffen Koschmieder, Tony R Green, Radek C Skoda, Tomasz Skorski
Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations. Current treatment options for MPNs include cytoreduction by hydroxyurea and JAK1/2 inhibition by ruxolitinib, both of which are not curative. We show here that cell lines expressing JAK2(V617F), MPL(W515L) or CALR(del52) accumulated reactive oxygen species-induced DNA double-strand breaks (DSBs) and were modestly sensitive to poly-ADP-ribose polymerase (PARP) inhibitors olaparib and BMN673. At the same time primary MPN cell samples from individual patients displayed a high degree of variability in the sensitivity to these drugs...
October 17, 2017: Blood
https://www.readbyqxmd.com/read/28948496/risk-factors-for-and-management-of-mpn-associated-bleeding-and-thrombosis
#9
REVIEW
Karlyn Martin
PURPOSE OF THE REVIEW: The Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) are characterized by both thrombotic and bleeding complications. The purpose of this review is to describe the risk factors associated with bleeding and thrombosis in MPN, as well as to review prevention strategies and management of these complications. RECENT FINDINGS: Well-described risk factors for thrombotic complications include older age and history of prior thrombosis, along with traditional cardiovascular and venous thromboembolic risk factors...
October 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28948488/prognostication-in-philadelphia-chromosome-negative-myeloproliferative-neoplasms-a-review-of-the-recent-literature
#10
REVIEW
Amy Zhou, Amber Afzal, Stephen T Oh
PURPOSE OF REVIEW: The prognosis for patients with Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs) is highly variable. All Ph-negative MPNs carry an increased risk for thrombotic complications, bleeding, and leukemic transformation. Several clinical, biological, and molecular prognostic factors have been identified in recent years, which provide important information in guiding management of patients with Ph-negative MPNs. In this review, we critically evaluate the recent published literature and discuss important new developments in clinical and molecular factors that impact survival, disease transformation, and thrombosis in patients with polycythemia vera, essential thrombocythemia, and primary myelofibrosis...
October 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28934680/a-phase-1-study-of-the-janus-kinase-2-jak2-v617f-inhibitor-gandotinib-ly2784544-in-patients-with-primary-myelofibrosis-polycythemia-vera-and-essential-thrombocythemia
#11
MULTICENTER STUDY
Srdan Verstovsek, Ruben A Mesa, Mohamed E Salama, Li Li, Celine Pitou, Fabio P Nunes, Gregory L Price, Jennifer L Giles, Deborah N D'Souza, Richard A Walgren, Josef T Prchal
Mutations in Janus kinase 2 (JAK2) are implicated in the pathogenesis of Philadelphia-chromosome negative myeloproliferative neoplasms, including primary myelofibrosis, polycythemia vera, and essential thrombocythemia. Gandotinib (LY2784544), a potent inhibitor of JAK2 activity, shows increased potency for the JAK2(V617F) mutation. The study had a standard 3+3 dose-escalation design to define the maximum-tolerated dose. Primary objectives were to determine safety, tolerability, and recommended oral daily dose of gandotinib for patients with JAK2(V617F)-positive myelofibrosis, essential thrombocythemia, or polycythemia vera...
October 2017: Leukemia Research
https://www.readbyqxmd.com/read/28819248/a-portable-microfluidic-platform-for-rapid-molecular-diagnostic-testing-of-patients-with-myeloproliferative-neoplasms
#12
Hua Wang, Xinju Zhang, Xiao Xu, Qunfeng Zhang, Hengliang Wang, Dong Li, Zhihua Kang, Zhiyuan Wu, Yigui Tang, Zhenhua An, Ming Guan
The ability to simultaneously detect JAK2 V617F and MPL W515K/L mutations would substantially improve the early diagnosis of myeloproliferative neoplasms (MPNs) and decrease the risk of arterial thrombosis. The goal of this study is to achieve a point of care testing platform for simultaneous analysis of major genetic alterations in MPN. Here, we report a microfluidic platform including a glass capillary containing polypropylene matrix that extracts genomic DNA from a drop of whole blood, a microchip for simultaneous multi-gene mutation screening, and a handheld battery-powered heating device...
August 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28798246/extramedullary-haematopoiesis-presenting-with-cardiac-tamponade-in-a-patient-with-polycythaemia-vera
#13
Faysal Haroun, Viktoria Elkis, Anne Chen, Elsie Lee
A 71-year-old man with a history of polycythaemia vera, diagnosed 4 years ago, presented to the emergency room with shortness of breath. A bedside echocardiogram revealed a large pericardial effusion with features concerning for pericardial tamponade. A left anterior thoracotomy and a pericardial window were emergently performed in the operating room and relieved the patient's symptoms. Histology evaluation of the pericardial fragments and pericardial fluid revealed the presence of trilineage haematopoietic elements without any increase in the blasts...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28797996/detection-mutations-of-jak2-exon-12-in-patients-with-jak2-v617f-negative-myeloproliferative-disorders
#14
S Z Makani, N Parsamanesh, S Mirzaahmadi, M Hashemi, F Shaveisi-Zadeh, N Mansouri, M Ghazi, A Movafagh
BACKGROUND: Mutations in exon 12 of JAK2 gene are detected as clonal markers in hematopoietic lineages in myeloproliferative disorders (MPNs). Our aim was, to study the relation between N542-E543del mutation of JAK2 gene and myeloproliferative neoplasms in V617Fnegative patients. PATIENTS AND METHODS: DNA specimen from 34 patients and 44 healthy controls were genotyped using ARMs- PCR method. We analyzed exon 12 JAK2 aberration in 34 myeloproliferative cases to be readily detected by both ARMS-PCR and DNA analysis regardless of whether peripheral blood or bone marrow cells was manipulated as the origin of RNA...
May 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28766534/-clinical-features-of-essential-thrombocythemia-and-primary-myelofibrosis-depending-on-the-molecular-characteristics-of-disease
#15
A L Melikyan, I N Subortseva, A B Sudarikov, A M Kovrigina, E A Gilyazitdinova, T I Kolosheinova, A O Abdullaev, S A Treglazova
The aim of the present paper was to evaluate the clinical features and risk of thrombotic events (TE) in patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF), depending on the molecular characteristics of disease. Clinical data and laboratory parameters were analyzed in 50 ET patients and 50 PMF ones who had been followed up at the Department for Standardization of Treatments, National Research Center for Hematology, Ministry of Health of the Russian Federation, from February 2015 to September 2016...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28733177/transjugular-local-thrombolysis-with-without-tips-in-patients-with-acute-non-cirrhotic-non-malignant-portal-vein-thrombosis
#16
Christoph Klinger, Bettina Riecken, Arthur Schmidt, Andrea De Gottardi, Benjamin Meier, Jaime Bosch, Karel Caca
BACKGROUND & AIMS: Therapeutic anticoagulation is the standard treatment in patients with acute non-cirrhotic portal vein thrombosis (PVT). In critically ill patients, anticoagulation only may not suffice to achive rapid and stable recanalization. This study evaluates efficacy and safety of transjugular interventional therapy in acute non-cirrhotic PVT. METHODS: This retrospective study includes 17 consecutive patients with acute noncirrhotic, non-malignant PVT...
June 27, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28728747/endothelial-to-mesenchymal-transition-in-bone-marrow-and-spleen-of-primary-myelofibrosis
#17
Benedetta Gaia Erba, Cristian Gruppi, Monica Corada, Federica Pisati, Vittorio Rosti, Niccolo' Bartalucci, Jean-Luc Villeval, Alessandro Maria Vannucchi, Giovanni Barosi, Alessandra Balduini, Elisabetta Dejana
Primary myelofibrosis is characterized by the development of fibrosis in the bone marrow that contributes to ineffective hematopoiesis. Bone marrow fibrosis is the result of a complex and not yet fully understood interaction among megakaryocytes, myeloid cells, fibroblasts, and endothelial cells. Here, we report that >30% of the endothelial cells in the small vessels of the bone marrow and spleen of patients with primary myelofibrosis have a mesenchymal phenotype, which is suggestive of the process known as endothelial-to-mesenchymal transition (EndMT)...
August 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28710306/ruxolitinib-treatment-in-an-infant-with-jak2-polycythaemia-vera-associated-budd-chiari-syndrome
#18
Mehmet Enes Coskun, Sue Height, Anil Dhawan, Nedim Hadzic
Budd-Chiari syndrome (BCS) is caused by hepatic venous outflow obstruction commonly seen with myeloproliferative neoplasms (MPNs). Polycythaemia vera (PV) is a very rare MPN in childhood. This is the youngest reported patient diagnosed with PV and BCS secondary to JAK V617F mutation.A 26-month-old girl was admitted with a 5-month history of abdominal distension, hepatosplenomegaly and ascites. Imaging studies revealed occlusion of the right hepatic vein and marked attenuation of the middle and left hepatic veins...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28702412/megakaryocytic-morphology-in-janus-kinase-2-v617f-positive-myeloproliferative-neoplasm
#19
Shuchi Ghai, Sharada Rai
CONTEXT: Alterations in megakaryocyte morphology are the hallmark of myeloproliferative neoplasms (MPNs). These neoplasm are also associated with Janus kinase 2 (JAK2) V617F mutation in nearly 95% patients with polycythemia vera (PV), 40% patients of essential thrombocythemia (ET) and 50% patients of myelofibrosis (MF). The utility of megakaryocyte morphology in these disorders in correlation with JAK2 V617F remains unresolved. AIMS: The aim of the study was to assess the morphology of megakaryocytes in bone marrow aspirates (BMAs) and bone marrow biopsies of patients of BCR-ABL negative MPNs with JAK2 V617F mutation...
April 2017: South Asian Journal of Cancer
https://www.readbyqxmd.com/read/28700486/progression-of-primary-myelofibrosis-to-polycythemia-vera-a-case-report
#20
Yan Guo, Wenwei Xu, Lin Dong, Ning Huang, Kehong Bi
RATIONALE: This case report describes the progression of primary myelofibrosis (PMF) to polycythemia vera (PV), and discuss its potential mechanisms. PATIENT CONCERNS: The patient was admitted because of abdominal discomfort and enlarged spleen for 19 months. DIAGNOSIS: A case of PMF progressed to PV was retrospectively analyzed. There were 19 months between the diagnosis of PMF and PV. The JAK2 V617F mutation was positive before and after the diagnosis of PV; however, new chromosomal abnormalities were detected during the progression...
July 2017: Medicine (Baltimore)
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