keyword
MENU ▼
Read by QxMD icon Read
search

calreticulin myeloproliferative

keyword
https://www.readbyqxmd.com/read/28415571/increased-b-cell-activation-is-present-in-jak2v617f-mutated-calr-mutated-and-triple-negative-essential-thrombocythemia
#1
Ken-Hong Lim, Caleb Gon-Shen Chen, Yu-Cheng Chang, Yi-Hao Chiang, Chen-Wei Kao, Wei-Ting Wang, Chiao-Yi Chang, Ling Huang, Ching-Sung Lin, Chun-Chia Cheng, Hung-I Cheng, Nai-Wen Su, Johnson Lin, Yi-Fang Chang, Ming-Chih Chang, Ruey-Kuen Hsieh, Huan-Chau Lin, Yuan-Yeh Kuo
Essential thrombocythemia (ET) is a BCL-ABL1-negative myeloproliferative neoplasm. We have reported that increased activated B cells can facilitate platelet production mediated by cytokines regardless JAK2 mutational status in ET. Recently, calreticulin (CALR) mutations were discovered in ~30% JAK2/MPL-unmutated ET and primary myelofibrosis. Here we sought to screen for CALR mutations and to evaluate B cell immune profiles in a cohort of adult Taiwanese ET patients. B cell populations, granulocytes/monocytes membrane-bound B cell-activating factor (mBAFF) levels, B cells toll-like receptor 4 (TLR4) expression and intracellular levels of interleukin (IL)-1β/IL-6 and the expression of CD69, CD80, and CD86 were quantified by flow cytometry...
March 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28411309/calreticulin-mutations-in-bulgarian-mpn-patients
#2
Ivan Pavlov, Evgueniy Hadjiev, Tzvetan Alaikov, Sylva Spassova, Angel Stoimenov, Elissaveta Naumova, Velizar Shivarov, Milena Ivanova
Somatic mutations in JAK2, MPL and CALR are recurrently identified in most of the cases with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs). We applied four molecular genetic methods for identification of CALR exon 9 mutations, including high resolution melt (HRM) analysis, Sanger sequencing, semiconductor target genes sequencing and whole exome sequencing. A total of 78 patients with myeloid malignancies were included in the study. We identified 14 CALR exon 9 mutated cases out of 78 studied patients with myeloid malignancies...
April 14, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28408900/the-thrombopoietin-receptor-structural-basis-of-traffic-and-activation-by-ligand-mutations-agonists-and-mutated-calreticulin
#3
REVIEW
Leila N Varghese, Jean-Philippe Defour, Christian Pecquet, Stefan N Constantinescu
A well-functioning hematopoietic system requires a certain robustness and flexibility to maintain appropriate quantities of functional mature blood cells, such as red blood cells and platelets. This review focuses on the cytokine receptor that plays a significant role in thrombopoiesis: the receptor for thrombopoietin (TPO-R; also known as MPL). Here, we survey the work to date to understand how this receptor functions at a molecular level throughout its lifecycle, from traffic to the cell surface, dimerization and binding cognate cytokine via its extracellular domain, through to its subsequent activation of associated Janus kinases and initiation of downstream signaling pathways, as well as the regulation of these processes...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28381690/18f-fdg-pet-ct-is-effective-in-distinguishing-myelofibrosis-due-to-bone-marrow-infiltration-of-diffuse-large-b-cell-lymphoma-from-triple-negative-primary-myelofibrosis
#4
Takuma Kumagai, Yoko Satoh, Megumi Koshiishi, Saori Ooishi, Yuki Sueki, Kei Nakajima, Toru Mitsumori, Keita Kirito
Although myelofibrosis is mainly associated with myeloproliferative neoplasms (MPN), especially primary myelofibrosis (PMF), a variety of hematological malignancies, including acute myeloid leukemia, multiple myeloma and malignant lymphoma, also cause myelofibrosis with markedly varying degrees of severity. Thus, it is extremely important to accurately diagnose the underlying diseases that cause fibrosis in bone marrow. Analyses of JAK2, MPL and calreticulin gene mutations are useful for distinguishing MPN from other diseases, since 90% of MPN patients have a mutation in one of these genes...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28340692/calr-gene-mutational-profile-in-myeloproliferative-neoplasms-with-non-mutated-jak2-in-moroccan-patients-a-case-series-and-germline-in-frame-deletion
#5
W Smaili, Y Doubaj, F Z Laarabi, J Lyahyai, M Kerbout, M Mikdame, A Sefiani
BACKGROUND: The discovery of somatic mutations within the gene encoding calreticulin (CALR) in 2013 represented a major milestone in the molecular diagnosis of BCR-ABL negative myeloproliferative neoplasms (MPN). In fact, exome sequencing revealed that most patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) lacking JAK2 or MPL mutations, harbor somatic insertion and/or deletion in exon 9 of CALR gene. In this study, we identified the first CALR gene mutational landscape in Moroccan patients with MPN nonmutated for the JAK2 gene...
January 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/28314843/quantitative-proteome-heterogeneity-in-myeloproliferative-neoplasm-subtypes-and-association-with-jak2-mutation-status
#6
Nuria Socoro-Yuste, Cokic Vladan P, Julie Mondet, Isabelle Plo, Pascal Mossuz
Apart from well-known genetic abnormalities, several studies have reported variations in protein expression in Philadelphia negative (Ph-) Myeloproliferative Neoplasm (MPN) patients that could contribute towards their clinical phenotype. In this context, a quantitative mass spectrometry proteomics protocol was used to identify differences in the granulocyte proteome with the goal to characterize the pathogenic role of aberrant protein expression in MPNs. LC MS/MS (LTQ Orbitrap) coupled to iTRAQ labeling showed significant and quantitative differences in protein content among various MPN subtypes [polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF)], and according to the genetic status of JAK2 (JAK2V617F presence and JAK2V617F allele burden)...
March 17, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28259746/acute-myeloid-leukemia-in-a-patient-with-thrombocytopenia-with-absent-radii-a-case-report-and-review-of-the-literature
#7
Maximilian Jameson-Lee, Katherine Chen, Ellen Ritchie, Tsiporah Shore, Omar Al-Khattab, Usama Gergis
Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital disorder characterized by low platelet counts of various severity, bilateral absent radii but thumbs are usually present. TAR syndrome is not generally associated with bone marrow failure or malignancy. Janus kinase-2, myeloproliferative leukemia protein, and calreticulin are not mutated in TAR patients. Only four cases of leukemia were reported in TAR patients in the literature: three acute myeloid leukemia (AML) and one acute lymphoblastic leukemia...
February 24, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28168700/progenitor-genotyping-reveals-a-complex-clonal-architecture-in-a-subset-of-calr-mutated-myeloproliferative-neoplasms
#8
Sarah Martin, Casey M Wright, Linda M Scott
The identification of acquired CALR mutations in patients with essential thrombocythaemia (ET) or myelofibrosis (MF) has meant that disease-initiating mutations can now be detected in about 90% of all patients with a myeloproliferative neoplasm (MPN). Here, we show that only those CALR mutations that cause a +1 frameshift, thereby altering the carboxy-terminus of calreticulin, promote cytokine independence in vitro; in-frame deletions were not functional, and are unlikely to be the pathogenetic mutation underlying some MPN cases...
April 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28167129/jak-stat-signaling-in-the-therapeutic-landscape-of-myeloproliferative-neoplasms
#9
Jennifer M O'Sullivan, Claire N Harrison
Myeloproliferative neoplasms (MPN) are a group of disorders defined by clonal proliferation of mature myeloid cells with overlapping clinical features. The driver mutations of these disorders, namely JAK2 (Janus Kinase), MPL (Myeloproliferative Leukaemia Virus) and CALR (Calreticulin) upregulate JAK-STAT signaling with increase in downstream transcription and gene expression. Epigenetic mutations are prevalent in MPNs but their interplay with aberrant JAK-STAT signaling is not known. This understanding lead to development of first targeted treatment in MPN; ruxolitinib for primary myelofibrosis...
February 3, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28143941/a-novel-molecular-assay-using-hybridisation-probes-and-melt-curve-analysis-for-calr-exon-9-mutation-detection-in-myeloproliferative-neoplasms
#10
Thomas Keaney, Louise O'Connor, Janusz Krawczyk, Moutaz A Abdelrahman, Amjad H Hayat, Margaret Murray, Michael O'Dwyer, Melanie Percy, Stehpen Langabeer, Karl Haslam, Barry Glynn, Ciara Mullen, Evelyn Keady, Sinéad Lahiff, Terry J Smith
AIMS: Somatic insertions/deletions in exon 9 of the calreticulin gene have been identified in patients with essential thrombocythemia and primary myelofibrosis. Over 55 mutations have been discovered, 80% of which consist of either type 1 52-bp deletion or type 2 5-bp insertion. Other mutations (types 3-5) in conjunction with types 1 and 2 account for >87% of identified mutations. The aim of this study was development of a rapid PCR-based assay using LightCycler Hybridisation Probes for the detection of type 1-5 CALR mutations...
January 31, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28060252/transduction-transplantation-mouse-model-of-myeloproliferative-neoplasm
#11
Thanh Kim Nguyen, Sarah J Morse, Angela G Fleischman
Transduction-transplantation is a quick and efficient way to model human hematologic malignancies in mice. This technique results in expression of the gene of interest in hematopoietic cells and can be used to study the gene's role in normal and/or malignant hematopoiesis. This protocol provides a detailed description on how to perform transduction-transplantation using calreticulin (CALR) mutations recently identified in myeloproliferative neoplasm (MPN) as an example. In this protocol whole bone marrow cells from 5-flurouracil (5-FU) treated donor mice are transduced with a retrovirus encoding mutant CALR and transplanted into lethally irradiated syngeneic hosts...
December 22, 2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28031530/a-novel-assay-to-detect-calreticulin-mutations-in-myeloproliferative-neoplasms
#12
Valentina Rosso, Jessica Petiti, Enrico Bracco, Roberto Pedrola, Francesca Carnuccio, Elisabetta Signorino, Sonia Carturan, Chiara Calabrese, Giada Bot-Sartor, Michela Ronconi, Anna Serra, Giuseppe Saglio, Francesco Frassoni, Daniela Cilloni
The myeloproliferative neoplasms are chronic myeloid cancers divided in Philadelphia positive (Ph+), chronic myeloid leukemia, or negative: polycythemia vera (PV) essential thrombocythemia (ET), and primary myelofibrosis (PMF). Most Ph negative cases have an activating JAK2 or MPL mutation. Recently, somatic mutations in the calreticulin gene (CALR) were detected in 56-88% of JAK2/MPL-negative patients affected by ET or PMF. The most frequent mutations in CARL gene are type-1 and 2. Currently, CALR mutations are evaluated by sanger sequencing...
January 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28028029/genetic-basis-and-molecular-pathophysiology-of-classical-myeloproliferative-neoplasms
#13
REVIEW
William Vainchenker, Robert Kralovics
The genetic landscape of classical myeloproliferative neoplasm (MPN) is in large part elucidated. The MPN-restricted driver mutations, including those in JAK2, calreticulin (CALR), and myeloproliferative leukemia virus (MPL), abnormally activate the cytokine receptor/JAK2 pathway and their downstream effectors, more particularly the STATs. The most frequent mutation, JAK2V617F, activates the 3 main myeloid cytokine receptors (erythropoietin receptor, granulocyte colony-stimulating factor receptor, and MPL) whereas CALR or MPL mutants are restricted to MPL activation...
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27917774/screening-for-calreticulin-mutations-in-a-cohort-of-patients-suspected-of-having-a-myeloproliferative-neoplasm
#14
A De Kock, C Booysen
BACKGROUND: The discovery of calreticulin (CALR) has shown it to be the second most frequent mutation after the Janus Kinase 2 (JAK2) mutation in myeloproliferative neoplasms (MPNs). Its structure indicates various functions, of which two are to ensure calcium homeostasis and proper folding of other target proteins. Over 36 types of CALR mutations have been identified, all causing a recurrent frameshift in the C-terminal domain affecting CALR's localisation and calcium-binding function...
December 1, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27913528/mutations-in-mpns-prognostic-implications-window-to-biology-and-impact-on-treatment-decisions
#15
Jamile M Shammo, Brady L Stein
The last decade has witnessed tremendous scientific advances, ushered in by the JAK2 V617F discovery, contributing to enhanced diagnostic capability and understanding of the biology of myeloproliferative neoplasms (MPNs). Discovery of the calreticulin mutations filled a diagnostic gap; more recent work sheds light on its contribution to disease pathogenesis, and prognosis. Recent studies have also identified novel JAK2 and MPL mutations in patients with essential thrombocythemia and myelofibrosis (MF). Especially in MF, the driver mutational profile has prognostic implications, with additive contributions from the acquisition of additional somatic mutations...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27909216/molecular-determinants-of-pathogenesis-and-clinical-phenotype-in-myeloproliferative-neoplasms
#16
REVIEW
Jacob Grinfeld, Jyoti Nangalia, Anthony R Green
The myeloproliferative neoplasms are a heterogeneous group of clonal disorders characterized by the overproduction of mature cells in the peripheral blood, together with an increased risk of thrombosis and progression to acute myeloid leukemia. The majority of patients with Philadelphia-chromosome negative myeloproliferative neoplasms harbor somatic mutations in Janus kinase 2, leading to constitutive activation. Acquired mutations in calreticulin or myeloproliferative leukemia virus oncogene are found in a significant number of patients with essential thrombocythemia or myelofibrosis, and mutations in numerous epigenetic regulators and spliceosome components are also seen...
January 2017: Haematologica
https://www.readbyqxmd.com/read/27807369/calreticulin-mutant-mice-develop-essential-thrombocythemia-that-is-ameliorated-by-the-jak-inhibitor-ruxolitinib
#17
K Shide, T Kameda, T Yamaji, M Sekine, N Inada, A Kamiunten, K Akizuki, K Nakamura, T Hidaka, Y Kubuki, H Shimoda, A Kitanaka, A Honda, A Sawaguchi, H Abe, T Miike, H Iwakiri, Y Tahara, M Sueta, S Hasuike, S Yamamoto, K Nagata, K Shimoda
Mutations of calreticulin (CALR) are detected in 25-30% of patients with essential thrombocythemia (ET) or primary myelofibrosis and cause frameshifts that result in proteins with a novel C-terminal. We demonstrate that CALR mutations activated signal transducer and activator of transcription 5 (STAT5) in 293T cells in the presence of thrombopoietin receptor (MPL). Human megakaryocytic CMK11-5 cells and erythroleukemic F-36P-MPL cells with knocked-in CALR mutations showed increased growth and acquisition of cytokine-independent growth, respectively, accompanied by STAT5 phosphorylation...
November 29, 2016: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/27766390/jak2v617f-and-calreticulin-mutations-in-recurrent-venous-thromboembolism-results-from-the-edith-prospective-cohort
#18
Jean-Christophe Ianotto, Aurélie Chauveau, Dominique Mottier, Valérie Ugo, Christian Berthou, Eric Lippert, Aurélien Delluc
Cancer incidence in patients with recurrent unprovoked venous thromboembolism (VTE) is much higher than after a first event, but the incidence of myeloproliferative neoplasms (MPN) in this situation is still unknown. We tested for JAK2V617F and calreticulin mutants, 372 DNA samples of patients treated for (VTR). Among these patients, 10 (2.7%) were carrying JAK2V617F mutation and none of them any of the calreticulin (CALR) mutations. Among the 19 patients who had VTE recurrence under vitamin K antagonists, 4 patients (21...
March 2017: Annals of Hematology
https://www.readbyqxmd.com/read/27764253/differential-dynamics-of-calr-mutant-allele-burden-in-myeloproliferative-neoplasms-during-interferon-alfa-treatment
#19
Lasse Kjær, Sabrina Cordua, Morten O Holmström, Mads Thomassen, Torben A Kruse, Niels Pallisgaard, Thomas S Larsen, Karin de Stricker, Vibe Skov, Hans C Hasselbalch
Discovery of somatic mutations in the calreticulin gene (CALR) has identified a subgroup of Philadelphia-negative chronic myeloproliferative neoplasms (MPN) with separate haematological characteristics and prognosis. CALR mutations serve as novel markers both of diagnostic value and as targets for monitoring molecular responses during therapy. Interferon-α (IFN) selectively targets the malignant clone in a subset of MPN patients and can induce both haematological and molecular remissions in CALR mutated essential thrombocythemia (ET) patients...
2016: PloS One
https://www.readbyqxmd.com/read/27693531/simultaneous-screening-for-jak2-and-calreticulin-gene-mutations-in-myeloproliferative-neoplasms-with-high-resolution-melting
#20
Nariyoshi Matsumoto, Sayaka Mori, Hiroo Hasegawa, Daisuke Sasaki, Hayato Mori, Kazuto Tsuruda, Daisuke Imanishi, Yoshitaka Imaizumi, Tomoko Hata, Norihito Kaku, Kousuke Kosai, Naoki Uno, Yasushi Miyazaki, Katsunori Yanagihara
INTRODUCTION: Recently, novel calreticulin (CALR) mutations were discovered in Janus kinase 2 (JAK2) non-mutated myelofibrosis (PMF) and essential thrombocythemia (ET) cases, with a frequency of 60-80%. We examined clinical correlations and CALR mutation frequency in our myeloproliferative neoplasms (MPN) cases, and introduce an effective test method for use in clinical practice. METHODS: We examined 177 samples previously investigated for the JAK2 mutation for differential diagnosis of MPN...
November 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
keyword
keyword
48829
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"