keyword
MENU ▼
Read by QxMD icon Read
search

Essential Thrombocythemia

keyword
https://www.readbyqxmd.com/read/29676359/molecular-genetics-of-bcr-abl1-negative-myeloproliferative-neoplasms-in-india
#1
Nikhil Rabade, P G Subramanian, Rohan Kodgule, Goutham Raval, Swapnali Joshi, Shruti Chaudhary, Russel Mascarenhas, Prashant Tembhare, Sumeet Gujral, Nikhil Patkar
Introduction: Over the past decade, we have moved on from a predominantly morphological and clinical classification of myeloproliferative neoplasms (MPN) to a more evolved classification that accounts for the molecular heterogeneity that is unique to this subgroup of hematological malignancies. This usually incorporates mutations in Janus kinase 2 (JAK2), MPL, and calreticulin (CALR) genes. In this manuscript, we report the frequency of these mutations in a cohort of Indian patients at a tertiary cancer center...
April 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29668550/pediatric-chronic-myeloid-leukemia-presenting-with-extreme-thrombocytosis-simulating-essential-thrombocythemia
#2
Jessica L Boklan, Alexandra M Walsh, Michelina C de la Maza, Leon L Su, Francisco A Nizzi, Kristian T Schafernak
A 10-year-old boy presented with spontaneous bruising and was found to have extreme thrombocytosis without neutrophilia/shift to immaturity, basophilia or eosinophilia. While the peripheral blood and bone marrow findings initially suggested essential thrombocythemia, BCR-ABL1 translocation was detected and chronic myeloid leukemia, chronic phase, was diagnosed. Apheresis for platelet depletion was performed as a bridge given the delayed effects of medical therapy.
April 17, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29665937/-current-understanding-of-myeloproliferative-neoplasm-related-gene-mutations-and-cytokine-review
#3
Zhi-Peng He, Yong Wu
Myeloproliferative neoplasm(MPN) is clonal hematopoietic stem cell disorder characterized by abnormal proliferation and expansion of one or more myeloid lineages. BCR-ABL-negative MPN includes polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The mutations of JAK2, CALR and MPL genes are involved in the pathogenesis of MPN that provided a more complete molecular diagnostic standard for MPN. More and more new mutated genes related to prognosis of MPN were discovered in the past few years, at same time it was found that cytokines were also involved in the genesis and development of MPN...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29656438/renovascular-hypertension-associated-with-jak2-v617f-positive-myeloproliferative-neoplasms-treated-with-angioplasty-2-cases-and-literature-review
#4
Eikan Mishima, Takehiro Suzuki, Yoichi Takeuchi, Kazumasa Seiji, Noriko Fukuhara, Kei Takase, Hideo Harigae, Takaaki Abe, Sadayoshi Ito
Myeloproliferative neoplasms (MPNs) with Janus kinase 2 (JAK2) mutation are associated with a high risk for occlusive vascular diseases. We report 2 cases of renovascular hypertension associated with JAK2 V617F mutation-positive MPNs and provide a literature review. In Case 1, a 63-year-old woman had resistant hypertension, massive proteinuria, and erythrocytosis. Evaluations revealed right renal artery stenosis causing renovascular hypertension and polycythemia vera with JAK2 V617F mutation. Renin-angiotensin system inhibitors and subsequent angioplasty controlled the blood pressure and the proteinuria resolved...
April 14, 2018: Journal of Clinical Hypertension
https://www.readbyqxmd.com/read/29650801/the-role-of-jak2-inhibitors-in-mpn-seven-years-after-approval
#5
Francesco Passamonti, Margherita Maffioli
Myeloproliferative neoplasms (MPNs) include essential thrombocythemia, polycythemia vera (PV) and primary myelofibrosis (PMF). Phenotype-driver mutations of JAK2, CALR and MPL genes are present in MPNs and can be variably combined with additional mutations. Driver mutations entail a constitutive activation of the JAK2/STAT pathway, the key signaling cascade in MPNs. Among JAK2 inhibitors (JAKis), ruxolitinib (RUX) has been approved for the treatment of intermediate and high risk myelofibrosis (MF) and of PV inadequately controlled by or intolerant of hydroxyurea...
April 12, 2018: Blood
https://www.readbyqxmd.com/read/29622658/value-of-cytogenetic-abnormalities-in-post-polycythemia-vera-and-post-essential-thrombocythemia-myelofibrosis-a-study-of-the-mysec-project
#6
Barbara Mora, Toni Giorgino, Paola Guglielmelli, Elisa Rumi, Margherita Maffioli, Alessandro Rambaldi, Marianna Caramella, Rami Komrokji, Jason Gotlib, Jean-Jacques Kiladjian, Francisco Cervantes, Timothy Devos, Francesca Palandri, Valerio De Stefano, Marco Ruggeri, Richard T Silver, Giulia Benevolo, Francesco Albano, Chiara Cavalloni, Daniela Barraco, Michele Merli, Daniela Pietra, Rosario Casalone, Tiziano Barbui, Giada Rotunno, Mario Cazzola, Alessandro Maria Vannucchi, Francesco Passamonti
No abstract text is available yet for this article.
April 5, 2018: Haematologica
https://www.readbyqxmd.com/read/29611379/gata1-expression-in-bcr-abl1-negative-myeloproliferative-neoplasms
#7
Naery Yang, Sholhui Park, Min Sun Cho, Miae Lee, Ki Sook Hong, Yeung Chul Mun, Chu Myong Seong, Hee Jin Huh, Jungwon Huh
BACKGROUND: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs). METHODS: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records...
July 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29609040/clinico-hematological-profile-and-thrombotic-hemorrhagic-events-in-150-chinese-patients-with-essential-thrombocythemia
#8
Dian Zhou, Wei Chen, Hai Cheng, Jian-Lin Qiao, Li-Li Zhu, Zhen-Yu Li, Kai-Lin Xu
Essential thrombocythemia (ET) is an uncommon chronic myeloproliferative disorder with no cure. Patients with ET are at risk of different complications, and currently there are no optimal prognostic standards to predict severe post-diagnosis complications such as thrombosis and hemorrhage. In this study, we retrospectively analyzed the full set of clinical data from 150 Chinese patients with ET enrolled from 2013 to 2016. We discovered that neutrophil-to-lymphocyte ratio (NLR), along with other known clinical parameters such as age, leukocyte count, incidence of thrombotic events is higher in patients with JAK2 V617F mutation...
March 27, 2018: Leukemia Research
https://www.readbyqxmd.com/read/29603799/impact-of-white-blood-cells-on-thrombotic-risk-in-patients-with-optimised-platelet-count-in-essential-thrombocythemia
#9
Veronika Buxhofer-Ausch, Michael Steurer, Siegfried Sormann, Ernst Schloegl, Wolfgang Schimetta, Bettina Gisslinger, Martin Schalling, Maria Theresa Krauth, Jürgen Thiele, Reinhard Ruckser, Günther Gastl, Heinz Gisslinger
OBJECTIVES: Risk of thrombosis is significantly enhanced by both elevated platelet (PLT) and white blood cell (WBC) counts according to a retrospective analysis of a large anagrelide- registry in thrombocythemic MPN patients. We were interested in the impact of elevated WBC counts on thrombosis risk in patients where PLT counts were reduced below the calculated cut off of 574.5 G/L by treatment with anagrelide. METHODS: Cox regression analysis and Kaplan Meier plot were applied on all patients in the registry with optimized PLT counts...
March 30, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29575945/current-approaches-to-challenging-scenarios-in-myeloproliferative-neoplasms
#10
Eran Zimran, Ronald Hoffman, Marina Kremyanskaya
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia and primary myelofibrosis are clonal hematological malignancies that originate at the level of the hematopoietic stem cell, and are characterized by excessive proliferation of cells belonging to one or more of the myeloid lineages. Central to the pathogenesis of the MPNs is constitutive activation of the JAK/STAT signaling pathway due to a family of driver mutations affecting JAK2, CALR or MPL...
March 29, 2018: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29566880/mastocytosis-with-associated-essential-thrombocythemia
#11
J Marcoval
No abstract text is available yet for this article.
March 19, 2018: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29560522/elevated-expression-of-the-ezh2-gene-in-calr-mutated-patients-with-primary-myelofibrosis
#12
Ni Fan, Yigui Tang, Zhiyuan Wu, Ming Guan, Bobin Chen, Xiaoping Xu, Weizhe Ma, Xiao Xu, Xinju Zhang
Primary myelofibrosis (PMF) is one of the BCR/ABL-negative myeloproliferative neoplasms (MPNs), characterized by the diffuse fibrous hyperproliferation, bone marrow osteosclerosis, extramedullary hematopoiesis, and marked splenomegaly. The patients with PMF have an insidious onset, a long duration of clinical course, and the deteriorated quality of life. It has been reported that the CALR gene 9 exon mutations were detected in 25-30% PMF patients, particularly as high as 80% in the JAK2/MPL-negative ones. As the second most common mutation in BCR/ABL-negative MPNs, CALR mutation has been included in the latest World Health Organization (WHO) classification criteria as one of the main diagnostic criteria for both essential thrombocythemia (ET) and PMF...
March 20, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29556018/pegylated-interferon-alfa-2a-and-hydroxyurea-in-polycythemia-vera-and-essential-thrombocythemia-differential-cellular-and-molecular-responses
#13
Tsewang Tashi, Sabina Swierczek, Soo Jin Kim, Mohamed E Salama, Jihyun Song, Nahla Heikal, Katherine Y King, Kim Hickman, Scott Litton, Josef T Prchal
No abstract text is available yet for this article.
February 28, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29542026/the-role-of-caspase-genes-polymorphisms-in-genetic-susceptibility-to-philadelphia-negative-myeloproliferative-neoplasms-in-a-portuguese-population
#14
Ana P Azevedo, Susana N Silva, Alice Reichert, Fernando Lima, Esmeraldina Júnior, José Rueff
Our main aim was to evaluate the role of caspases' genes SNPs in Philadelphia-chromosome negative chronic myeloproliferative neoplasms (PN-MPNs) susceptibility. A case-control study in 133 Caucasian Portuguese PN-MPNs patients and 281 matched controls was carried out, studying SNPs in apoptosis related caspases: rs1045485 and rs1035142 (CASP8), rs1052576, rs2308950, rs1132312 and rs1052571 (CASP9), rs2227309 and rs2227310 (CASP7) and rs13006529 (CASP10). After stratification by pathology diagnosis for essential thrombocythemia (ET), female gender or JAK2 positive, there is a significant increased risk for those carrying at least one variant allele for CASP9 (C653T) polymorphism (OR 2...
March 14, 2018: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/29538005/an-evaluation-of-global-coagulation-assays-in-myeloproliferative-neoplasm
#15
Hui Y Lim, Cheryl Ng, Joseph Rigano, Mark Tacey, Geoffrey Donnan, Harshal Nandurkar, Prahlad Ho
: Myeloproliferative neoplasms (MPN) are independent risks for thrombotic events. Routine laboratory tests are inadequate to evaluate the underlying procoagulant state. Global coagulation assays such as thromboelastography, thrombin and fibrin generation may provide better assessment of coagulation activation and thereby of thrombosis risk. Participants with MPN were recruited. Thromboelastography was performed on citrated whole blood while thrombin generation using calibrated automated thrombogram, fibrin generation using overall haemostatic potential assays and P-selectin were quantified on platelet-poor plasma...
March 13, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29534592/effect-of-calr-and-jak2-mutations-on-the-clinical-and-hematological-phenotypes-of-the-disease-in-patients-with-myelofibrosis-long-term-experience-from-a-single-center
#16
M Palova, T Szotkowski, A Hlusi, K Indrak, J Navratilova, M Divoka, T Papajik
Primary myelofibrosis (PMF) is a chronic clonal myeloid disorder. Together with essential thrombocythemia (ET) and polycythemia vera (PV), it belongs to a group of Philadelphia chromosome-negative myeloproliferative neoplasms. An integral part of laboratory tests carried out in this disease group is detecting the presence of mutations in the Janus kinase 2 gene at position 617 (JAK2 V617F) and in the gene encoding for the receptor for thrombopoietin (myeloproliferative leukemia virus oncogene, MPL) found in approximately 60% of PMF patients...
2018: Neoplasma
https://www.readbyqxmd.com/read/29521158/calreticulin-mutation-analysis-in-non-mutated-janus-kinase-2-essential-thrombocythemia-patients-in-chiang-mai-university-analysis-of-three-methods-and-clinical-correlations
#17
Ekarat Rattarittamrong, Adisak Tantiworawit, Noppamas Kumpunya, Ornkamon Wongtagan, Ratchanoo Tongphung, Arunee Phusua, Chatree Chai-Adisaksopha, Sasinee Hantrakool, Thanawat Rattanathammethee, Lalita Norasetthada, Pimlak Charoenkwan, Suree Lekawanvijit
OBJECTIVES: The primary objective was to determine the prevalence of calreticulin (CALR) mutation in patients with non-JAK2V617F mutated essential thrombocythemia (ET). The secondary objectives were to evaluate the accuracy of CALR mutation analysis by high-resolution melting (HRM) analysis and real-time polymerase chain reaction (PCR) compared with DNA sequencing and to compare clinical characteristics of CALR mutated and JAK2V617F mutated ET. METHODS: This was a prospective cohort study involving ET patients registered at Chiang Mai University in the period September 2015-September 2017 who were aged more than 2 years, and did not harbor JAK2V617F mutation...
March 9, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29520559/life-for-patients-with-myelofibrosis-the-physical-emotional-and-financial-impact-collected-using-narrative-medicine-results-from-the-italian-back-to-life-project
#18
Francesca Palandri, Giulia Benevolo, Alessandra Iurlo, Elisabetta Abruzzese, Angelo M Carella, Chiara Paoli, Giuseppe A Palumbo, Massimiliano Bonifacio, Daniela Cilloni, Alessandro Andriani, Attilio Guarini, Diamante Turri, Elena Maria Elli, Antonietta Falcone, Barbara Anaclerico, Pellegrino Musto, Nicola Di Renzo, Mario Tiribelli, Renato Zambello, Caterina Spinosa, Alessandra Ricco, Letizia Raucci, Bruno Martino, Mario Annunziata, Silvia Pascale, Anna Marina Liberati, Giorgio La Nasa, Margherita Maffioli, Massimo Breccia, Novella Pugliese, Silvia Betti, Gianfranco Giglio, Antonietta Cappuccio, Luigi Reale
PURPOSE: Myelofibrosis (MF) is a chronic myeloproliferative neoplasm characterised by an aggressive clinical course, with disabling symptoms and reduced survival. Patients experience a severely impaired quality of life and their families face the upheaval of daily routines and high disease-related financial costs. The aim of this study was to investigate the perceptions of Italian patients and their caregivers about living with MF and the burden of illness associated with MF. METHODS: A quali-quantitative questionnaire and a prompted written narrative survey were administered to patients affected by primary or post-essential thrombocythemia/post-polycythaemia vera MF and their primary caregiver in 35 Italian haematological centres...
March 8, 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29515972/genetic-alterations-in-essential-thrombocythemia-progression-to-acute-myeloid-leukemia-a-case-series-and-review-of-the-literature
#19
Jackline P Ayres-Silva, Martin H Bonamino, Maria E Gouveia, Barbara C R Monte-Mor, Diego F Coutinho, Adelmo H Daumas, Cristiana Solza, Esteban Braggio, Ilana Renault Zalcberg
The genetic events associated with transformation of myeloproliferative neoplasms (MPNs) to secondary acute myeloid leukemia (sAML), particularly in the subgroup of essential thrombocythemia (ET) patients, remain incompletely understood. Deep studies using high-throughput methods might lead to a better understanding of genetic landscape of ET patients who transformed to sAML. We performed array-based comparative genomic hybridization (aCGH) and whole exome sequencing (WES) to analyze paired samples from ET and sAML phases...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29515073/-essential-thrombocythemia-complicated-by-intracranial-thrombohemorrhagic-events
#20
Yoshinori Hashimoto, Takanori Fukuta, Hiromi Omura, Takayuki Tanaka
Although the life expectancy if patients with essential thrombocythemia (ET) is considered to be almost similar to that of the general population, advanced age, leukocytosis, and a previous history of thrombosis are poor prognostic factors, and it is important to prevent thrombohemorrhagic events, leukemic transformation, and secondary malignancies. We report an 85-year-old ET patient with a history of asymptomatic lacunar infarction, who developed symptomatic cerebral infarction and even chronic subdural hematoma...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
keyword
keyword
8089
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"