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calreticulin myeloproliferative

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https://www.readbyqxmd.com/read/29769311/tumor-associated-calreticulin-variants-functionally-compromise-the-peptide-loading-complex-and-impair-its-recruitment-of-mhc-i
#1
Najla Arshad, Peter Cresswell
Major histocompatibility complex-I-β2 m dimers (MHC-I) bind peptides derived from intracellular proteins, enabling the immune system to distinguish between normal cells and those expressing pathogen-derived or mutant proteins. The peptides bind to MHC-I in the endoplasmic reticulum (ER), and this binding is facilitated by the peptide-loading complex (PLC), which contains calreticulin (CRT). CRT associates with MHC-I via a conserved glycan present on MHC-I and recruits it to the PLC for peptide binding. Somatic frameshift mutations in CRT (CRT-FS) drive the proliferation of a subset of myeloproliferative neoplasms (MPNs), which are chronic blood tumors...
May 16, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29741776/skewed-megakaryopoiesis-in-human-induced-pluripotent-stem-cell-derived-haematopoietic-progenitor-cells-harbouring-calreticulin-mutations
#2
Hiraku Takei, Yoko Edahiro, Shuichi Mano, Nami Masubuchi, Yoshihisa Mizukami, Misa Imai, Soji Morishita, Kyohei Misawa, Tomonori Ochiai, Satoshi Tsuneda, Hiroshi Endo, Sou Nakamura, Koji Eto, Akimichi Ohsaka, Marito Araki, Norio Komatsu
Somatic mutations in the calreticulin (CALR) gene have been found in most patients with JAK2- and MPL-unmutated Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs). It has recently been shown that mutant CALR constitutively activates the thrombopoietin receptor MPL and, thus, plays a causal role in the development of MPNs. However, the roles of mutant CALR in human haematopoietic cell differentiation remain predominantly elusive. To examine the impact of the 5-base insertion mutant CALR gene (Ins5) on haematopoietic cell differentiation, we generated induced pluripotent stem cells from an essential thrombocythaemia (ET) patient harbouring a CALR-Ins5 mutation and from a healthy individual (WT)...
May 9, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29725364/asxl1-mutations-in-chinese-patients-with-essential-thrombocythemia
#3
Yan-Bo Nie, Meng Sun, Colin K He, Man-Kai Ju, Fu-Ling Zhou, San-Yun Wu, Yi Zhou, Li Liu, Hui Shen, Ting-Ting Huang, Pan Liu, Ying Xu, Liang Shao, Xue-Lan Zuo
Essential thrombocythemia (ET) is characterized by thrombotic and hemorrhagic events. The association of clinical characteristics of Chinese ET patients and additional sex combs like 1 (ASXL1) mutations in these patients has remained to be elucidated. In the present study, 72 newly diagnosed Chinese ET patients were enrolled to determine ASXL1 mutations. Mutations in ASXL1, Janus kinase (JAK)2, calreticulin (CALR) and myeloproliferative leukemia (MPL) genes were detected using Sanger sequencing, and data were statistically analyzed...
May 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29715157/elevated-neutrophil-to-lymphocyte-ratio-and-platelet-to-lymphocyte-ratio-in-myelofibrosis-inflammatory-biomarkers-or-representatives-of-myeloproliferation-itself
#4
Marko Lucijanic, David Cicic, Tajana Stoos-Veic, Vlatko Pejsa, Jelena Lucijanic, Amina Fazlic Dzankic, Josipa Vlasac Glasnovic, Ena Soric, Marko Skelin, Rajko Kusec
BACKGROUND/AIM: We aimed to investigate clinical associations of inflammatory biomarkers neutrophil-to-lymphocyte-ratio (NLR) and platelet-to-lymphocyte-ratio (PLR) in patients with myelofibrosis, myeloproliferative neoplasm with inflammatory background. PATIENTS AND METHODS: We retrospectively analyzed a cohort of 102 myelofibrosis patients. NLR and PLR were assessed in addition to other disease-specific parameters. RESULTS: NLR and PLR were significantly higher in myelofibrosis than in healthy controls...
May 2018: Anticancer Research
https://www.readbyqxmd.com/read/29676359/molecular-genetics-of-bcr-abl1-negative-myeloproliferative-neoplasms-in-india
#5
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/29665657/recent-advances-in-the-diagnosis-and-management-of-primary-myelofibrosis
#6
Katsuto Takenaka, Kazuya Shimoda, Koichi Akashi
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) in which dysregulation of the Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathways is the major pathogenic mechanism. Most patients with PMF carry a driver mutation in the JAK2, MPL (myeloproliferative leukemia), or CALR (calreticulin) genes. Mutations in epigenetic regulators and RNA splicing genes may also occur, and play critical roles in PMF disease progression. Based on revised World Health Organization diagnostic criteria for MPNs, both screening for driver mutations and bone marrow biopsy are required for a specific diagnosis...
April 20, 2018: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29599206/impact-of-hydroxycarbamide-and-interferon-%C3%AE-on-red-cell-adhesion-and-membrane-protein-expression-in-polycythemia-vera
#7
Mégane Brusson, Maria De Grandis, Sylvie Cochet, Sylvain Bigot, Mickaël Marin, Marjorie Leduc, François Guillonneau, Patrick Mayeux, Thierry Peyrard, Christine Chomienne, Caroline Le Van Kim, Bruno Cassinat, Jean-Jacques Kiladjian, Wassim El Nemer
Polycythemia vera is a chronic myeloproliferative neoplasm characterized by the JAK2V617F mutation, elevated blood cell counts and a high risk of thrombosis. Although the red cell lineage is primarily affected by JAK2V617F, the impact of mutated JAK2 on circulating red blood cells is poorly documented. Recently, we showed that in polycythemia vera erythrocytes had abnormal expression of several proteins including Lu/BCAM adhesion molecule and proteins from the endoplasmic reticulum, mainly calreticulin and calnexin...
March 29, 2018: Haematologica
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
#8
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/29492207/evaluation-of-vascular-events-in-patients-with-myeloproliferative-syndromes-and-mutations-of-either-the-januskinase-2-or-calreticulin-gene-at-the-university-hospital-krems-from-2008-to-2015
#9
Sarah Hintermair, Elisabeth Zwickl-Traxler, Martin Pecherstorfer, Josef Singer
Myeloproliferative neoplasms (MPN), classified as polycythemia vera (PV), essential thrombocytosis (ET) and myelofibrosis (MF) are stem-cell derived disorders. Mutations in either the januskinase-2 (JAK-2) or the calreticulin (CALR) gene are characteristic for MPN and may result in enhanced proliferation of red blood cells, white blood cells and platelets, and thus increase the risk for vascular events. This study is a retrospective and descriptive analysis of records of patients, who underwent treatment for myeloproliferative syndromes at the Department of Hemato-Oncology of the University hospital Krems from 2008 to the end of 2015...
February 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29466766/recent-advances-in-the-genomics-and-therapy-of-bcr-abl1-positive-and-negative-chronic-myeloproliferative-neoplasms
#10
REVIEW
Tariq I Mughal, Jason Gotlib, Ruben Mesa, Steffen Koschmieder, H Jean Khoury, Jorge E Cortes, Tiziano Barbui, Rüdiger Hehlmann, Michael Mauro, Susanne Saussele, Jerald P Radich, Richard A Van Etten, Giuseppe Saglio, Srdnan Verstovek, Robert Peter Gale, Omar Abdel-Wahab
This review is based on the presentations and deliberations at the 7th John Goldman Chronic Myeloid Leukemia (CML) and Myeloproliferative Neoplasms (MPN) Colloquium which took place in Estoril, Portugal on the 15th October 2017, and the 11th post-ASH International Workshop on CML and MPN which took place on the 6th-7th December 2016, immediately after the 58th American Society of Hematology Annual Meeting. Rather than present a resume of the proceedings, we have elected to address some of the topical translational research and clinically relevant topics in greater detail...
April 2018: Leukemia Research
https://www.readbyqxmd.com/read/29411299/a-rare-calr-variant-mutation-and-a-review-of-calr-in-essential-thrombocythemia
#11
Robert Diep, Ara Metjian
Essential thrombocythemia (ET) is an indolent myeloproliferative neoplasm characterized by megakaryocyte hyperplasia, thrombocytosis, thrombotic and hemorrhagic complications, and potential transformation into myelofibrosis and acute myeloid leukemia. The vast majority of cases are driven by a somatic mutation in JAK2, CALR, or MPL. CALR, a gene that codes for the calcium-binding chaperone calreticulin, is the predominant mutation in patients with non-mutated JAK2 essential thrombocythemia, accounting for 20-25% of the overall somatic mutation frequency in ET...
April 2018: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/29390868/selected-parameters-of-angiogenesis-and-the-jak2-calr-and-mpl-mutations-in-patients-with-essential-thrombocythemia
#12
Grażyna Gadomska, Alicja Bartoszewska-Kubiak, Joanna Boinska, Karolina Matiakowska, Katarzyna Ziołkowska, Olga Haus, Danuta Rość
The aim of the study was to evaluate selected angiogenic factors in patients with essential thrombocythemia (ET) depending on JAK2V617F, calreticulin gene (CALR) and myeloproliferative leukemia virus oncogene (MPL) mutations. Sixty ET patients and 20 healthy volunteers were enrolled in the study. The following tests were performed: vascular endothelial growth factor- A (VEGF-A), soluble vascular endothelial growth factor receptor-1 (sVEGFR-1),soluble vascular endothelial growth factor receptor-2 (sVEGFR-2), platelet-derived growth factor( PDGF-BB), and stromal-derived factor-1α (SDF-1α)...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29364275/using-crispr-cas9-gene-editing-to-investigate-the-oncogenic-activity-of-mutant-calreticulin-in-cytokine-dependent-hematopoietic-cells
#13
Nouran S Abdelfattah, Ann Mullally
Clustered regularly interspaced short palindromic repeats (CRISPR) is an adaptive immunity system in prokaryotes that has been repurposed by scientists to generate RNA-guided nucleases, such as CRISPR-associated (Cas) 9 for site-specific eukaryotic genome editing. Genome engineering by Cas9 is used to efficiently, easily and robustly modify endogenous genes in many biomedically-relevant mammalian cell lines and organisms. Here we show an example of how to utilize the CRISPR/Cas9 methodology to understand the biological function of specific genetic mutations...
January 5, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29288169/defining-the-requirements-for-the-pathogenic-interaction-between-mutant-calreticulin-and-mpl-in-mpn
#14
Shannon Elf, Nouran S Abdelfattah, April J Baral, Danielle Beeson, Jeanne F Rivera, Amy Ko, Natalie Florescu, Gabriel Birrane, Edwin Chen, Ann Mullally
Mutations in calreticulin ( CALR ) are phenotypic drivers in the pathogenesis of myeloproliferative neoplasms. Mechanistic studies have demonstrated that mutant CALR binds to the thrombopoietin receptor MPL, and that the positive electrostatic charge of the mutant CALR C terminus is required for mutant CALR-mediated activation of JAK-STAT signaling. Here we demonstrate that although binding between mutant CALR and MPL is required for mutant CALR to transform hematopoietic cells; binding alone is insufficient for cytokine independent growth...
February 15, 2018: Blood
https://www.readbyqxmd.com/read/29277359/soho-state-of-the-art-update-and-next-questions-mpn
#15
REVIEW
Prithviraj Bose, Jason Gotlib, Claire N Harrison, Srdan Verstovsek
The discovery of the activating Janus kinase (JAK)2V617F mutation in 2005 in most patients with the classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) spurred intense interest in research into these disorders, culminating in the identification of activating mutations in MPL in 2006 and indels in the gene encoding calreticulin (CALR) in 2013, thus providing additional mechanistic explanations for the universal activation of JAK-signal transducer and activator of transcription (JAK-STAT) observed in these conditions, and the success of the JAK1/2 inhibitor ruxolitinib, which first received regulatory approval in 2011...
January 2018: Clinical Lymphoma, Myeloma & Leukemia
https://www.readbyqxmd.com/read/29258411/calreticulin-affects-hematopoietic-stem-progenitor-cell-fate-by-impacting-erythroid-and-megakaryocytic-differentiation
#16
Simona Salati, Zelia Prudente, Elena Genovese, Valentina Pennucci, Sebastiano Rontauroli, Niccolo' Bartalucci, Carmela Mannarelli, Samantha Ruberti, Roberta Zini, Chiara Rossi, Elisa Bianchi, Paola Guglielmelli, Enrico Tagliafico, Alessandro M Vannucchi, Rossella Manfredini
Calreticulin (CALR) is a chaperone protein that localizes primarily to the endoplasmic reticulum (ER) lumen where it is responsible for the control of proper folding of neo-synthesized glycoproteins and for the retention of calcium. Recently, mutations affecting exon 9 of the CALR gene have been described in approximately 40% of patients with myeloproliferative neoplasms (MPNs). Although the role of mutated CALR in the development of MPNs has begun to be clarified, there are still no data available on the function of wild-type (WT) CALR during physiological hematopoiesis...
December 19, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/29222295/myeloproliferative-neoplasms-from-origins-to-outcomes
#17
REVIEW
Jyoti Nangalia, Anthony R Green
Substantial progress has been made in our understanding of the pathogenetic basis of myeloproliferative neoplasms. The discovery of mutations in JAK2 over a decade ago heralded a new age for patient care as a consequence of improved diagnosis and the development of therapeutic JAK inhibitors. The more recent identification of mutations in calreticulin brought with it a sense of completeness, with most patients with myeloproliferative neoplasm now having a biological basis for their excessive myeloproliferation...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/29218307/calreticulin-challenges-posed-by-the-intrinsically-disordered-nature-of-calreticulin-to-the-study-of-its-function
#18
Lilian Varricchio, Mario Falchi, Massimiliano Dall'Ora, Caterina De Benedittis, Alessandra Ruggeri, Vladimir N Uversky, Anna Rita Migliaccio
Calreticulin is a Ca2+ -binding chaperone protein, which resides mainly in the endoplasmic reticulum but also found in other cellular compartments including the plasma membrane. In addition to Ca2+ , calreticulin binds and regulates almost all proteins and most of the mRNAs deciding their intracellular fate. The potential functions of calreticulin are so numerous that identification of all of them is becoming a nightmare. Still the recent discovery that patients affected by the Philadelphia-negative myeloproliferative disorders essential thrombocytemia or primary myelofibrosis not harboring JAK2 mutations carry instead calreticulin mutations disrupting its C-terminal domain has highlighted the clinical need to gain a deeper understanding of the biological activity of this protein...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/29212804/myeloproliferative-neoplasms-from-origins-to-outcomes
#19
REVIEW
Jyoti Nangalia, Anthony R Green
Substantial progress has been made in our understanding of the pathogenetic basis of myeloproliferative neoplasms. The discovery of mutations in JAK2 over a decade ago heralded a new age for patient care as a consequence of improved diagnosis and the development of therapeutic JAK inhibitors. The more recent identification of mutations in calreticulin brought with it a sense of completeness, with most patients with myeloproliferative neoplasm now having a biological basis for their excessive myeloproliferation...
December 7, 2017: Blood
https://www.readbyqxmd.com/read/29194068/polycythemia-vera-and-essential-thrombocythemia-algorithmic-approach
#20
Alessandro M Vannucchi, Paola Guglielmelli, Ayalew Tefferi
PURPOSE OF REVIEW: To describe an algorithm-based approach, whenever available, to the diagnosis, the risk stratification criteria informing therapy and the current management of polycythemia vera and essential thrombocythemia. RECENT FINDINGS: Description of recurrent genetic abnormalities in driver genes, including Janus Kinase 2 (JAK2), myeloproliferative leukemia and calreticulin, a better appreciation of the key diagnostic role of bone marrow features, results of large epidemiologic studies and a few but landmark controlled clinical trials produced in the last decade, all resulted in a reappraisal of the approach to polycythemia vera and essential thrombocythemia...
March 2018: Current Opinion in Hematology
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