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myeloproliferative neoplasms

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https://www.readbyqxmd.com/read/28211153/the-prognostic-relevance-of-serum-lactate-dehydrogenase-and-mild-bone-marrow-reticulin-fibrosis-in-essential-thrombocythemia
#1
Mythri Mudireddy, Daniela Barraco, Curtis A Hanson, Animesh Pardanani, Naseema Gangat, Ayalew Tefferi
The 2016 World Health Organization (WHO) diagnostic criteria for myeloproliferative neoplasms (MPN) underscore the prognostically-relevant distinction between essential thrombocythemia (ET) and prefibrotic primary myelofibrosis (pre-PMF). In addition, leukocytosis has been identified as an important prognostic marker in otherwise WHO-defined ET. However, controversy remains regarding the objectivity of morphologic criteria in distinguishing ET from pre-PMF and the precise prognostic cutoff values for leukocytosis...
February 17, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28202867/gm-csf-autoantibody-positive-pulmonary-alveolar-proteinosis-with-simultaneous-myeloproliferative-neoplasm
#2
Naoto Imoto, Nakashima Harunori, Katsuya Furukawa, Naoyuki Tange, Atsushi Murase, Masaya Hayakawa, Masatoshi Ichihara, Yosuke Iwata, Hiroshi Kosugi
Pulmonary alveolar proteinosis (PAP) is classified as autoimmune, secondary, or genetic. We herein describe a 69-year-old man with autoimmune PAP, simultaneously diagnosed with myeloproliferative neoplasm (MPN). Two years after the diagnosis, the MPN progressed to acute myeloid leukemia, and the patient died from an alveolar hemorrhage during remission induction chemotherapy. Throughout the clinical course, no progression of PAP was observed, despite the progression to leukemia. There are few reports of autoimmune PAP with hematological malignancy, and this case demonstrated that an evaluation for GM-CSF autoantibodies is important for distinguishing the autoimmune and secondary forms of PAP, even if the patient has hematological malignancy...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28190862/acute-myeloid-leukemia-with-t-3-21-q13-q22-a-novel-simple-variant-of-the-21q22-runx1-translocation
#3
Yuka Tsuruoka, Hirotaka Sakai, Akiko Uchida, Yu Uemura, Kazuyuki Sato, Satoshi Yokoi, Yuji Nishio, Manabu Matsunawa, Yoshinori Suzuki, Yasushi Isobe, Masayuki Kato, Naoto Tomita, Yasuyuki Inoue, Ikuo Miura
A 69-year-old man diagnosed with leukocytosis was referred to our hospital in July 201X. The patient was diagnosed as having a myelodysplastic/myeloproliferative neoplasm. However, he presented with leukemia 2 months later. Chromosomal analysis of a bone marrow sample documented that this patient had a normal karyotype. The patient was successfully treated with idarubicin and cytarabine, and he underwent three courses of consolidation therapy. However, he suffered a relapse in May of the following year. A cytogenetic analysis revealed the presence of a t (3;21) (q13;q22) translocation, and fluorescence in situ hybridization of metaphase spreads detected three signals corresponding to the runt related transcription factor 1 (RUNX1) on the derivative chromosomes 3 and 21, besides the normal chromosome 21...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28188970/refractory-anemia-with-ring-sideroblasts-rars-and-rars-with-thrombocytosis-rars-t-2017-update-on-diagnosis-risk-stratification-and-management
#4
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include refractory anemia with ring sideroblasts (RARS), now classified under myelodysplastic syndromes with RS (MDS-RS) and RARS with thrombocytosis (RARS-T); now called myelodysplastic/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T). DIAGNOSIS: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (SLD/MLD), <5% bone marrow (BM) blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations)...
March 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28186604/-clinical-and-genetic-features-of-a-patient-with-myeloid-neoplasm-in-association-with-pdgfra-and-evi1-gene-rearrangements
#5
Wenmin Han, Hongying Chao, Min Zhou, Ling Cen, Suning Chen, Xuefeng He, Xuzhang Lu
OBJECTIVE: Todelineate the clinical and genetic features of a patient with myeloproliferative neoplasm (MPN) in association with PDGFRA and EVI1 genes rearrangements. METHODS: Clinical data of the patient was collected. Conventional cytogenetics, fluorescence in situ hybridization (FISH) and nested PCR were carried out for the patient. RESULTS: The patient has featured recurrent rash, joint pain, and intermittent fever. Laboratory tests showed hyperleukocytosis and marked eosinophilia...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28168700/progenitor-genotyping-reveals-a-complex-clonal-architecture-in-a-subset-of-calr-mutated-myeloproliferative-neoplasms
#6
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...
February 7, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28167129/jak-stat-signaling-in-the-therapeutic-landscape-of-myeloproliferative-neoplasms
#7
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/28164603/study-on-the-clinical-significance-of-jak2v617f-allele-burden-in-philadelphia-chromosome-negative-myeloproliferative-neoplasm
#8
Peisong Chen, Juan Ouyang, Jianming Liang, Xuegao Yu, Bin Huang
BACKGROUND: It was discovered that the somatic mutation in JAK2 exon 14 (JAK2V617F) totally modified the understanding and diagnosis of Philadelphia-Negative myeloproliferative neoplasm (Ph-MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). Real-time quantitative PCR is the most widely used method for JAK2V617F detection in clinical laboratory. In this study, we aimed to evaluate the clinical significance of JAK2V617F allele burden in Ph-MPNs detected by real-time quantitative PCR...
August 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28161773/clinicopathological-differences-exist-between-calr-and-jak2-mutated-myeloproliferative-neoplasms-despite-a-similar-molecular-landscape-data-from-targeted-next-generation-sequencing-in-the-diagnostic-laboratory
#9
Rishu Agarwal, Piers Blombery, Michelle McBean, Kate Jones, Andrew Fellowes, Ken Doig, Cecily Forsyth, David A Westerman
Mutations in CALR have recently been detected in JAK2-negative myeloproliferative neoplasms (MPNs) and are key pathological drivers in these diseases. CALR-mutated MPNs are shown to have numerous clinicopathological differences to JAK2-mutated MPNs. The basis of these differences is poorly understood. It is unknown whether these differences result directly from any differences in intracellular signalling abnormalities induced by JAK2/CALR mutations or whether they relate to other phenomena such as a differing spectrum of genetic lesions between the two groups...
February 4, 2017: Annals of Hematology
https://www.readbyqxmd.com/read/28159736/myeloproliferative-neoplasm-stem-cells
#10
Adam J Mead, Ann Mullally
Myeloproliferative neoplasms (MPN) arise in the hematopoietic stem cell (HSC) compartment as a result of the acquisition of somatic mutations in a single HSC that provide a selective advantage to mutant HSC over normal HSC and promote myeloid differentiation to engender a myeloproliferative phenotype. This population of somatically mutated HSC, which initiate and sustain MPN, are termed MPN stem cells. In greater than 95% of cases, mutations that drive the development of an MPN phenotype occur in a mutually exclusive manner in one of three genes: JAK2, CALR or MPL The thrombopoietin receptor, MPL is the key cytokine receptor in MPN development and these mutations all activate MPL-JAK-STAT signaling in MPN stem cells...
February 3, 2017: Blood
https://www.readbyqxmd.com/read/28159735/the-microenvironment-in-human-myeloid-malignancies-emerging-concepts-and-therapeutic-implications
#11
Hind Medyouf
Similar to their healthy counterpart, malignant hematopoietic stem cells in myeloid malignancies such as myeloproliferative neoplasms (MPNs), myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML), reside in a highly complex and dynamic cellular microenvironment in the bone marrow. This environment provides key regulatory signals for and tightly controls cardinal features of HSCs, including self-renewal, quiescence, differentiation and migration. These features are essential to maintaining cellular homeostasis and blood regeneration throughout life...
February 3, 2017: Blood
https://www.readbyqxmd.com/read/28157219/the-role-of-the-extracellular-matrix-in-primary-myelofibrosis
#12
REVIEW
O Leiva, S K Ng, S Chitalia, A Balduini, S Matsuura, K Ravid
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm that arises from clonal proliferation of hematopoietic stem cells and leads to progressive bone marrow (BM) fibrosis. While cellular mutations involved in the development of PMF have been heavily investigated, noteworthy is the important role the extracellular matrix (ECM) plays in the progression of BM fibrosis. This review surveys ECM proteins contributors of PMF, and highlights how better understanding of the control of the ECM within the BM niche may lead to combined therapeutic options in PMF...
February 3, 2017: Blood Cancer Journal
https://www.readbyqxmd.com/read/28155840/osteitis-in-the-course-of-pyodema-gangrenosum-case-raport
#13
Andrzej Kaźmierczak-Koćwin, Robert Pieczyrak, Damian Kusz, Eugeniusz Kucharz, Marcin Kusz
We present the case of a male patient admitted to the Department of Orthopaedics and Musculoskeletal Traumatology, Medical University of Silesia (MUS) in Katowice, due to a right hindfoot abscess with calcaneal infiltration and pain in the forehead and the back, with evidence of local inflammation. The patient had a history of ulcerative colitis and sclerosing cholangitis was suspected. During the hospital stay, the patient underwent calcaneal CT, surgery (resection of an inflammatory focus) and MRI of the thoracic and lumbosacral spine, which revealed inflamed spinous processes of the Th10, Th11 and Th12 vertebrae...
November 30, 2016: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28153838/myelodysplastic-myeloproliferative-neoplasm-with-ring-sideroblasts-and-thrombocytosis-with-co-mutated-jak2-and-sf3b1
#14
Erica F Reinig, Rong He
No abstract text is available yet for this article.
February 2, 2017: Blood
https://www.readbyqxmd.com/read/28145534/thrombin-generation-a-potentially-useful-biomarker-of-thrombotic-risk-in-philadelphia-negative-myeloproliferative-neoplasms
#15
Romeo-Gabriel Mihaila
The diagnosis of essential thrombocythemia and polycythemia vera is often made during a thrombotic event which can be serious. Philadelphia-negative chronic myeloproliferative neoplasia patients have an increased thrombotic risk. This is assessed using various scoring systems but these are far from ideal and individual risk. The currend trend to personalised medicine requires finding the most useful thrombotic risk biomarker in these patients. Routine tests for coagulation do not take account of both pro- and anti-coagulant factors which is why these tests are not useful in patients with Philadelphia-negative myeloproliferative neoplasms...
January 6, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
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
#16
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/28135282/mesenchymal-cell-reprogramming-in-experimental-mplw515l-mouse-model-of-myelofibrosis
#17
Ying Han, Lanzhu Yue, Max Wei, Xiubao Ren, Zonghong Shao, Ling Zhang, Ross L Levine, Pearlie K Epling-Burnette
Myelofibrosis is an indicator of poor prognosis in myeloproliferative neoplasms (MPNs), but the precise mechanism(s) contributing to extracellular matrix remodeling and collagen deposition in the bone marrow (BM) niche remains unanswered. In this study, we isolated mesenchymal stromal cells (MSCs) from mice transplanted with wild-type thrombopoietin receptor (MPLWT) and MPLW515L retroviral-transduced bone marrow. Using MSCs derived from MPLW515-transplant recipients, excessive collagen deposition was maintained in the absence of the virus and neoplastic hematopoietic cells suggested that the MSCs were reprogrammed in vivo...
2017: PloS One
https://www.readbyqxmd.com/read/28128288/the-spleen-microenvironment-influences-disease-transformation-in-a-mouse-model-of-kit-d816v-dependent-myeloproliferative-neoplasm
#18
Natalie Pelusi, Maike Kosanke, Tamara Riedt, Corinna Rösseler, Kristin Seré, Jin Li, Ines Gütgemann, Martin Zenke, Viktor Janzen, Hubert Schorle
Activating mutations leading to ligand-independent signaling of the stem cell factor receptor KIT are associated with several hematopoietic malignancies. One of the most common alterations is the D816V mutation. In this study, we characterized mice, which conditionally express the humanized KIT(D816V) receptor in the adult hematopoietic system to determine the pathological consequences of unrestrained KIT signaling during blood cell development. We found that KIT(D816V) mutant animals acquired a myeloproliferative neoplasm similar to polycythemia vera, marked by a massive increase in red blood cells and severe splenomegaly caused by excessive extramedullary erythropoiesis...
January 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28126623/the-jak2v617f-mutation-in-normal-individuals-takes-place-in-differentiating-cells
#19
Svetlana Krichevsky, Eugenia Prus, Riki Perlman, Eitan Fibach, Dina Ben-Yehuda
The JAK2V617F mutation that results in a hyper-activation of the JAK2 kinase in the erythropoietin pathway is a molecular marker for myeloproliferative neoplasms. Using allele-specific Real-Time PCR, we detected the mutation in the blood of 17.3% (17/98) of normal donors; the mutant allele burden was, however, very low (<0.01% compared to >1% in polycythemia vera). It was much higher in differentiated blood cells in the peripheral blood than in undifferentiated CD34(+) cells. Erythropoietin-stimulated differentiation of normal CD34(+) cells in liquid culture increased the mutation frequency by 3...
January 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28119526/rethinking-jak2-inhibition-towards-novel-strategies-of-more-specific-and-versatile-janus-kinase-inhibition
#20
REVIEW
E Leroy, S N Constantinescu
Janus kinases (JAKs) are required for cytokine receptor signaling. Since the discovery of the highly prevalent JAK2 V617F mutation in myeloproliferative neoplasms (MPNs), JAK2 became a prime target for inhibition. Only one approved JAK2 inhibitor exists, with positive, but not curative effects in MPNs, and promising effects in autoimmune diseases and cancer. Based on recent advances in the structural features regulating both normal and mutant JAKs, as well as in small-molecule targeting, we review the current state of JAK2 inhibitor development and present novel avenues of selecting JAK2 inhibitors, with broad and narrow specificities and extend these approaches to other JAKs...
January 25, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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