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https://www.readbyqxmd.com/read/29147619/the-jak2v617f-and-calr-exon-9-mutations-are-shared-immunogenic-neoantigens-in-hematological-malignancy
#1
Morten Orebo Holmström, Hans Carl Hasselbalch, Mads Hald Andersen
Approximately 90% of patients with the hematological malignancies termed the chronic myeloproliferative neoplasms harbor either the JAK2V617F-mutation or CALR exon 9 mutation. Both of these are recognized by T-cells, which make the mutations ideal targets for cancer immune therapy as they are shared antigens.
2017: Oncoimmunology
https://www.readbyqxmd.com/read/29146710/jak2-calr-mpl-and-asxl1-mutational-status-correlates-with-distinct-histologic-features-in-philadelphia-chromosome-negative-myeloproliferative-neoplasms
#2
Waihay J Wong, Robert P Hasserjian, Geraldine S Pinkus, Lawrence J Breyfogle, Ann Mullaly, Olga Pozdnyakova
No abstract text is available yet for this article.
November 16, 2017: Haematologica
https://www.readbyqxmd.com/read/29145678/-thrombocytosis-and-thrombocytopenia-background-and-clinical-relevance
#3
Kai Wille, Parvis Sadjadian, Martin Griesshammer
Due to the central role of platelets in hemostasis, the clinical relevance of quantitative changes in platelet counts (< 150 G/l or > 450 G/l) may be significant. Thrombopoesis (= production of platelets) occurs in the bone marrow, and the hormone thrombopoetin takes control on its regulation.In thrombocytosis, primary causes have to be distinguished from the far more common reactive (= secondary) reasons. The most important form of primary thrombocytosis occurs in myeloproliferative neoplasms especially in essential thrombocythemia (ET)...
November 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/29136733/-exploratory-study-of-circulating-tumor-dna-detection-in-early-breast-cancer-an-analysis-of-75-next-generation-sequencing-results
#4
B Zhou, L Xin, L Xu, Y H Liu, M M Zhang, R L Jing, X Y Liang, S B Cao
Objective: To explore the utility of circulating tumor DNA detection in early breast cancer by using next-generation sequencing. Methods: This exploratory study of circulating tumor DNA detection is for early invasive breast cancer patients treated in Breast Disease Center, Peking University First Hospital from December 2015 to July 2016. Plasma samples were collected and were used to isolate plasma cell-free DNA.Exons or hotspots of 247 cancer related genes were sequenced by next-generation sequencing. Mutations and their correlation with clinic-pathological factors were analyzed...
November 1, 2017: Zhonghua Wai Ke za Zhi [Chinese Journal of Surgery]
https://www.readbyqxmd.com/read/29134817/the-bcr-abl1-negative-myeloproliferative-neoplasms-a-review-of-jak-inhibitors-in-the-therapeutic-armamentarium
#5
Martin Griesshammer, Parvis Sadjadian
The classical BCR-ABL1-negative myeloproliferative neoplasms (MPN) include primary myelofibrosis (PMF), polycythaemia vera (PV) and essential thrombocythaemia (ET). They are characterized by stem cell-derived clonal proliferation, harbour Janus kinase 2 (JAK2), or calreticulin (CALR), or myeloproliferative leukaemia virus oncogene (MPL) driver mutations and exert an over activated JAK-signal transducer and activator of transcription (STAT) pathway. Therefore JAK inhibiting strategies have been successfully investigated in MPN clinical trials...
November 14, 2017: Expert Opinion on Pharmacotherapy
https://www.readbyqxmd.com/read/29128551/transplant-decisions-in-patients-with-myelofibrosis-should-mutations-be-the-judge
#6
REVIEW
Rachel B Salit, H Joachim Deeg
The prognosis of myeloproliferative neoplasms (MPN), including primary myelofibrosis (PMF), polycythemia vera (PV; post-PV MF) and essential thrombocythemia (ET; post-EMF) varies considerably, between these disorders as well as within each diagnosis. Molecular studies have identified "driver mutations", in JAK2, MPL1 and CALR, and additional somatic DNA mutations, including ASXL1, EZH2, IDH1/2 and SRSF2, that affect prognosis differentially. Patients with mutations in CALR (type1) have a better outlook than patients with mutations in JAK2 or MPL, while patients without any of the driver mutations (triple negative) have the shortest life expectancy...
November 8, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29123956/mutations-in-jak2-and-calreticulin-genes-are-associated-with-specific-alterations-of-the-immune-system-in-myelofibrosis
#7
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/29122814/non-endoplasmic-reticulum-based-calr-calreticulin-can-coordinate-heterocellular-calcium-signaling-and-vascular-function
#8
Lauren A Biwer, Miranda E Good, Kwangseok Hong, Rahul K Patel, Neha Agrawal, Robin Looft-Wilson, Swapnil K Sonkusare, Brant E Isakson
OBJECTIVE: In resistance arteries, endothelial cell (EC) extensions can make contact with smooth muscle cells, forming myoendothelial junction at holes in the internal elastic lamina (HIEL). At these HIEL, calcium signaling is tightly regulated. Because Calr (calreticulin) can buffer ≈50% of endoplasmic reticulum calcium and is expressed throughout IEL holes in small arteries, the only place where myoendothelial junctions form, we investigated the effect of EC-specific Calr deletion on calcium signaling and vascular function...
November 9, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29118934/exploring-conserved-mrna-mirna-interactions-in-colon-and-lung-cancers
#9
Fereshteh Izadi, Mona Zamanian-Azodi, Vahid Mansouri, Mahsa Khodadoostan, Nosratollah Naderi
Aim: The main goal of this analysis was prioritization of co-expressed genes and miRNAs that are thought to have important influences in the pathogenesis of colon and lung cancers. Background: MicroRNAs (miRNAs) as small and endogenous noncoding RNAs which regulate gene expression by repressing mRNA translation or decreasing stability of mRNAs; they have proven pivotal roles in different types of cancers. Accumulating evidence indicates the role of miRNAs in a wide range of biological processes from oncogenesis and tumor suppressors to contribution to tumor progression...
2017: Gastroenterology and Hepatology From Bed to Bench
https://www.readbyqxmd.com/read/29100304/germline-variations-at-jak2-tert-hbs1l-myb-and-mecom-and-the-risk-of-myeloproliferative-neoplasms-in-taiwanese-population
#10
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/29074595/ruxolitinib-vs-best-available-therapy-for-et-intolerant-or-resistant-to-hydroxycarbamide
#11
RANDOMIZED CONTROLLED TRIAL
Claire N Harrison, Adam J Mead, Anesh Panchal, Sonia Fox, Christina Yap, Emmanouela Gbandi, Aimee Houlton, Samah Alimam, Joanne Ewing, Marion Wood, Frederick Chen, Jason Coppell, Nicki Panoskaltsis, Steven Knapper, Sahra Ali, Angela Hamblin, Robyn Scherber, Amylou C Dueck, Nicholas C P Cross, Ruben Mesa, Mary Frances McMullin
Treatments for high-risk essential thrombocythemia (ET) address thrombocytosis, disease-related symptoms, as well as risks of thrombosis, hemorrhage, transformation to myelofibrosis, and leukemia. Patients resistant/intolerant to hydroxycarbamide (HC) have a poor outlook. MAJIC (ISRCTN61925716) is a randomized phase 2 trial of ruxolitinib (JAK1/2 inhibitor) vs best available therapy (BAT) in ET and polycythemia vera patients resistant or intolerant to HC. Here, findings of MAJIC-ET are reported, where the modified intention-to-treat population included 58 and 52 patients randomized to receive ruxolitinib or BAT, respectively...
October 26, 2017: Blood
https://www.readbyqxmd.com/read/29069830/protein-coding-genes-long-non-coding-rnas-combined-with-micrornas-as-a-novel-clinical-multi-dimension-transcriptome-signature-to-predict-prognosis-in-ovarian-cancer
#12
Xu Meng, Guo Jin-Cheng, Zhang Jue, Ma Quan-Fu, Yan Bin, Wu Xu-Feng
Ovarian cancer is prevalent in women which is usually diagnosed at an advanced stage with a high mortality rate. The aim of this study is to investigate protein-coding gene, long non-coding RNA, and microRNA associated with the prognosis of patients with ovarian serous carcinoma by mining data from TCGA (The Cancer Genome Atlas) public database. The clinical data of ovarian serous carcinoma patients was downloaded from TCGA database in September, 2016. The mean age and survival time of 407 patients with ovarian serous carcinoma were 59...
September 22, 2017: Oncotarget
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
#13
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
#14
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/29034885/generation-and-characterization-of-a-human-induced-pluripotent-stem-ips-cell-line-derived-from-an-acute-myeloid-leukemia-patient-evolving-from-primary-myelofibrosis-carrying-the-calr-52bp-deletion-and-the-asxl1-p-r693x-mutation
#15
Cintia E Gomez Limia, Sylvie Devalle, Marcelo Reis, Jaroslaw Sochacki, Mayra Carneiro, Rodrigo Madeiro da Costa, Mariana D'Andrea, Telma Padilha, Ilana R Zalcberg, Cristiana Solza, Adelmo Daumas, Stevens Rehen, Bárbara Monte-Mór, Martín H Bonamino
Peripheral blood sample was donated by a 61years old female patient diagnosed with acute myeloid leukemia secondary to a primary myelofibrosis harboring the 52-bp deletion in the CALR gene (c.1092_1143del, p.L367fs*46) and the R693X mutation in the ASXL1 gene (c.2077C>T, p.R693X). CD34+ cells were isolated from the sample and subjected to the reprogramming procedure by using the Sendai virus carrying the reprogramming factors Oct3/4, Sox2, Klf4 and c-Myc. iPS colonies generated retained the original mutations and displayed all the features of bona fide iPS cells...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29029474/regulatory-actions-of-toxr-and-calr-on-their-own-genes-and-type-iii-secretion-system-1-in-vibrio-parahaemolyticus
#16
George Osei-Adjei, He Gao, Ying Zhang, Lingyu Zhang, Wenhui Yang, Huiying Yang, Zhe Yin, Xinxiang Huang, Yiquan Zhang, Dongsheng Zhou
Vibrio parahaemolyticus is the leading cause of seafood-associated gastroenteritis. Type III secretion system 1 (T3SS1) is one of the virulence determinants of this bacteria. T3SS1 expression is regulated by ToxR and CalR. ToxR represses the transcription of T3SS1 genes via activation of CalR, which acts as a transcriptional repressor of T3SS1 genes. However, the transcriptional regulation mechanisms have not been elucidated. As showing in the present work, ToxR binds to the promoter DNA region of calR to activate its transcription...
September 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/29027642/familial-mpn-predisposition
#17
REVIEW
Tsewang Tashi, Sabina Swierczek, Josef T Prchal
Chronic myeloproliferative neoplasms (MPN) characteristically arise from a somatic mutation in the pluripotent hematopoietic stem cell, and most common recurring mutations are in the JAK2, CALR, and cMPL genes. However, these mutations are not founder mutations, but mainly drive the disease phenotype and a pre-existing germline predisposition has been long speculated, but has not been clearly defined to date. Genome-wide association studies in family clusters of MPN have identified a number of genetic variants that are associated with increased germline risk for developing clonal MPN...
October 2017: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/28990497/calr-jak2-and-mpl-mutation-status-in-argentinean-patients-with-bcr-abl1-negative-myeloproliferative-neoplasms
#18
Mara Jorgelina Ojeda, Irma Margarita Bragós, Karina Lucrecia Calvo, Gladis Marcela Williams, María Magdalena Carbonell, Arianna Flavia Pratti
OBJECTIVES: To establish the frequency of JAK2, MPL and CALR mutations in Argentinean patients with BCR-ABL1-negative  myeloproliferative neoplasms (MPN) and to compare their clinical and haematological features. METHODS: Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF). RESULTS: In 94...
October 9, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28978863/myeloid-neoplasms-in-the-world-health-organization-2016-classification
#19
Norio Asou
In the 2016 revision of the World Health Organization (WHO) classification, the categories of myeloid neoplasms have not been revised significantly from the 2008 fourth edition. However, recent discovery of molecular abnormalities provides a new perspective regarding the diagnostic and prognostic markers. In myeloproliferative neoplasms, the identification of CALR gene mutation, in addition to the JAK2 and MPL mutations, has impacted the diagnostic criteria. In myelodysplastic syndromes and acute myeloid leukemia, in addition to alterations in the transcription factors and signal transduction pathways, discovery of gene mutations in the epigenetic regulators that are involved in DNA methylation, histone modification, cohesin complex, and RNA splicing, by comprehensive genetic analyses, has improved our understanding of the pathobiology of these diseases...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28955303/genetic-alterations-of-the-thrombopoietin-mpl-jak2-axis-impacting-megakaryopoiesis
#20
REVIEW
Isabelle Plo, Christine Bellanné-Chantelot, Matthieu Mosca, Stefania Mazzi, Caroline Marty, William Vainchenker
Megakaryopoiesis is an original and complex cell process which leads to the formation of platelets. The homeostatic production of platelets is mainly regulated and controlled by thrombopoietin (TPO) and the TPO receptor (MPL)/JAK2 axis. Therefore, any hereditary or acquired abnormality affecting this signaling axis can result in thrombocytosis or thrombocytopenia. Thrombocytosis can be due to genetic alterations that affect either the intrinsic MPL signaling through gain-of-function (GOF) activity (MPL, JAK2, CALR) and loss-of-function (LOF) activity of negative regulators (CBL, LNK) or the extrinsic MPL signaling by THPO GOF mutations leading to increased TPO synthesis...
2017: Frontiers in Endocrinology
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