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https://www.readbyqxmd.com/read/28447248/somatic-setbp1-mutations-in-myeloid-neoplasms
#1
REVIEW
Hideki Makishima
SETBP1 is a SET-binding protein regulating self-renewal potential through HOXA-protein activation. Somatic SETBP1 mutations were identified by whole exome sequencing in several phenotypes of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), including atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, and juvenile myelomonocytic leukemia as well as in secondary acute myeloid leukemia (sAML). Surprisingly, its recurrent somatic activated mutations are located at the identical positions of germline mutations reported in congenital Schinzel-Giedion syndrome...
April 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28446312/-clinical-characteristics-and-gene-mutations-of-gilbert-syndrome-complicated-with-myeloproliferative-neoplasm
#2
Xing-Xin Li, Jun Shi, Zhen-Dong Huang, Ying-Qi Shao, Neng Nie, Jing Zhang, Mei-Li Ge, Jin-Bo Huang, Yi-Zhou Zheng
OBJECTIVE: To investigate the clinical characteristics and gene mutations of patients with Gilbert syndrome complicated with myeloproliferative neoplasms (MPN). METHODS: Peripheral blood samples from 1 patient with Gilbert syndrome complicated with MPN and his son were collected to analyse all exon mutations of UGT1A1 gene. RESULTS: The patient with leukocytosis, thrombocythemia, mild anemia and positive JAK2/V617F mutation was initially diagnosed as MPN...
April 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28445074/unravelling-chloroma-review-of-imaging-findings
#3
Anuradha Singh, Pawan Kumar, S H Chandrashekhara, Atin Kumar
Chloroma refers to the extramedullary proliferation of immature myeloid precursors occurring in a gamut of myeloproliferative and myelodysplastic conditions; acute myeloid leukemia (AML), being the commonest. With nonspecific clinical and imaging manifestations, it runs a high risk of misdiagnosis which may significantly affect the outcome of an otherwise treatable lesion. Also with these lesions heralding impending blast crises, awareness of the imaging findings becomes imperative. Imaging not only helps raise the suspicion, but also guides further confirmation by demonstration of specific immunohistochemistry markers, ensuring timely institution of chemotherapy;...
April 26, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28444727/advances-in-understanding-the-pathogenesis-of-familial-myeloproliferative-neoplasms
#4
REVIEW
Elisa Rumi, Mario Cazzola
Myeloproliferative neoplasms (MPNs) are generally acquired as a result of a somatic stem cell mutation leading to clonal expansion of myeloid precursors. In addition to sporadic cases, familial MPN occurs when one or several MPN affect different relatives of the same family. MPN driver mutations (JAK2, CALR, MPL) are somatically acquired also in familial cases, so a genetic predisposition to acquire one of the MPN driver mutations would be inherited, even though the causative germline mutations underlying familial MPN remain largely unknown...
April 25, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28442268/generalized-palisaded-neutrophilic-and-granulomatous-dermatitis-a-cutaneous-manifestation-of-chronic-myelomonocytic-leukemia-a-clinical-histopathological-and-molecular-study-of-three-cases
#5
Birgit Federmann, Irina Bonzheim, Amir S Yazdi, Janine Schmidt, Falko Fend, Gisela Metzler
Palisaded neutrophilic and granulomatous dermatitis (PNGD) is characterized by erythematous papules or plaques on trunk or limbs and is frequently associated with rheumatological, autoimmune or hematological malignancies. Histopathology shows interstitial granulomas composed of epitheloid histiocytes in the reticular dermis with surrounding foci of collagen degeneration and variable neutrophilic inflammation. We report three cases of generalized PNGD associated with chronic myelomonocytic leukemia (CMML), a myelodysplastic/myeloproliferative neoplasm, which may show a variety of cutaneous manifestations...
April 22, 2017: Human Pathology
https://www.readbyqxmd.com/read/28438855/the-effectiveness-of-febrile-neutropenia-prophylaxis-with-lipegfilgrastim-in-routine-clinical-practice
#6
REVIEW
Lubos Holubec, Jiri Polivka, Lenka Lisnerova, Tereza Kubikova, Martin Safanda
Febrile neutropenia (FN) is a common and potentially fatal complication of anticancer treatment, particularly in patients receiving myelosuppressive chemotherapy. It has been shown that prophylaxis with granulocyte colony-stimulating factor (G-CSF), especially its pegylated forms, significantly reduces the incidence of FN, the likelihood of chemotherapy dose intensity reduction and, also, the number of hospitalizations due to FN. This review discusses currently published results from clinical trials dealing with FN prophylaxis in routine clinical practice in patients with solid tumors and myeloproliferative malignancies with a focus on lipegfilgrastim, which is the newest modification of the original molecule filgrastim...
May 2017: In Vivo
https://www.readbyqxmd.com/read/28432220/mir-155-promotes-flt3-itd-induced-myeloproliferative-disease-through-inhibition-of-the-interferon-response
#7
Jared A Wallace, Dominique A Kagele, Anna M Eiring, Carissa N Kim, Ruozhen Hu, Marah C Runtsch, Margaret Alexander, Thomas B Huffaker, Soh-Hyun Lee, Ami B Patel, Timothy L Mosbruger, Warren Voth, Dinesh S Rao, Rodney R Miles, June L Round, Michael W Deininger, Ryan M O'Connell
FLT3-ITD(+) AML accounts for approximately 25% of all AML cases, and is a subtype that carries a poor prognosis. miR-155 is specifically overexpressed in FLT3-ITD(+) AML compared to FLT3-WT AML, and is critical for the growth of FLT3-ITD(+) AML cells in vitro. However, miR-155's role in regulating FLT3-ITD-mediated disease in vivo remains unclear. In this study, we utilized a genetic mouse model to determine whether miR-155 influences the development of FLT3-ITD-induced myeloproliferative disease. Results indicate that miR-155 promotes FLT3-ITD-induced myeloid expansion in the bone marrow, spleen, and peripheral blood...
April 21, 2017: Blood
https://www.readbyqxmd.com/read/28427458/whole-exome-sequencing-identifies-novel-candidate-predisposition-genes-for-familial-polycythemia-vera
#8
Elina A M Hirvonen, Esa Pitkänen, Kari Hemminki, Lauri A Aaltonen, Outi Kilpivaara
BACKGROUND: Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe), leading to constitutive activation of JAK-STAT signaling pathway. Familial clustering is also observed occasionally, but high-penetrance predisposition genes to PV have remained unidentified. RESULTS: We studied the predisposition to PV by exome sequencing (three cases) in a Finnish PV family with four patients...
April 20, 2017: Human Genomics
https://www.readbyqxmd.com/read/28423484/mir-494-3p-overexpression-promotes-megakaryocytopoiesis-in-primary-myelofibrosis-hematopoietic-stem-progenitor-cells-by-targeting-socs6
#9
Sebastiano Rontauroli, Ruggiero Norfo, Valentina Pennucci, Roberta Zini, Samantha Ruberti, Elisa Bianchi, Simona Salati, Zelia Prudente, Chiara Rossi, Vittorio Rosti, Paola Guglielmelli, Giovanni Barosi, Alessandro Vannucchi, Enrico Tagliafico, Rossella Manfredini
Primary myelofibrosis (PMF) is a chronic Philadelphia-negative myeloproliferative neoplasm characterized by hematopoietic stem cell-derived clonal myeloproliferation, involving especially the megakaryocyte lineage. To better characterize how the altered expression of microRNAs might contribute to PMF pathogenesis, we have previously performed the integrative analysis of gene and microRNA expression profiles of PMF hematopoietic stem/progenitor cells (HSPCs), which allowed us to identify miR-494-3p as the upregulated microRNA predicted to target the highest number of downregulated mRNAs...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422729/the-relevance-of-a-low-jak2v617f-allele-burden-in-clinical-practice-a-monocentric-study
#10
Margherita Perricone, Nicola Polverelli, Giovanni Martinelli, Lucia Catani, Emanuela Ottaviani, Elisa Zuffa, Eugenia Franchini, Arbana Dizdari, Dorian Forte, Elena Sabattini, Michele Cavo, Nicola Vianelli, Francesca Palandri
Since low JAK2V617F allele burden (AB) has been detected also in healthy subjects, its clinical interpretation may be challenging in patients with chronic myeloproliferative neoplasms (MPNs). We tested 1087 subjects for JAK2V617F mutation on suspicion of hematological malignancy. Only 497 (45.7%) patients were positive. Here we present clinical and laboratory parameters of a cohort of 35/497 patients with an AB ≤ 3%.Overall, 22/35 (62.9%) received a WHO-defined diagnosis of MPN and in 14/35 cases (40%) diagnosis was supported by bone marrow (BM) histology (''Histology-based'' diagnosis)...
March 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422716/sequential-evaluation-of-calr-mutant-burden-in-patients-with-myeloproliferative-neoplasms
#11
Chiara Cavalloni, Elisa Rumi, Virginia V Ferretti, Daniela Pietra, Elisa Roncoroni, Marta Bellini, Michele Ciboddo, Ilaria C Casetti, Benedetta Landini, Elena Fugazza, Daniela Troletti, Cesare Astori, Mario Cazzola
We investigated the variation of CALR-mutant burden during follow-up in 105 CALR-mutant MPN and compared it to the variation of JAK2-mutant burden in 226 JAK2-mutant MPN.The median allele burden at last evaluation was significantly higher than at first evaluation in essential thrombocythemia (ET) (49.5% vs 45%, P < .001) but not in primary myelofibrosis (PMF) (52% vs 51%, P 0.398). Median values of slope were positive both in ET (0.071) and in PMF (0.032). In CALR-mutant ET there was a difference between natural and therapy-related slope (P 0...
April 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28420931/paediatrics-primary-myelofibrosis-and-acute-stroke-a-rare-presentation
#12
Wajida Mazher, Ather Hasan Rizvi, Arsalan Majeed Adam, Muhammad Saad Ali Mallick, Ansab Godil
Idiopathic Myelofibrosis is a rare myeloproliferative disorder. In children, it becomes even rarer. Herein, we report a case of idiopathic myelofibrosis of a 6-year old male patient who presented with complaints of pallor, petechiae and bleeding from gums. Bone marrow aspirate showed afragmented haemodiluted smears with erythroid and myeloid precursors scattered throughout. Trephine biopsy showed increased background fibrotic activity along with clusters of histiocytes. A diagnosis of paediatric primary myelofibrosis was made on biopsy...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28419183/comparison-of-the-mutational-profiles-of-primary-myelofibrosis-polycythemia-vera-and-essential-thrombocytosis
#13
Jinming Song, Mohammad Hussaini, Hailing Zhang, Haipeng Shao, Dahui Qin, Xiaohui Zhang, Zhenjun Ma, Syeda Mahrukh Hussnain Naqvi, Ling Zhang, Lynn C Moscinski
Objectives: To compare the mutational profiles of patients with primary myelofibrosis (PMF), polycythemia vera (PV), and essential thrombocytosis (ET). Methods: Next-generation sequencing results of 75 cases of PMF, 33 cases of PV, and 27 cases of ET were compared. Results: Mutation rates of ASXL1 and SRSF2 were significantly higher in PMF than in PV or ET. ASXL1 mutations appeared to be more frequently associated with risk of transformation to acute myeloid leukemia than JAK2 or TET2 mutations...
April 15, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28418878/the-tert-rs2736100-polymorphism-increases-cancer-risk-a-meta-analysis
#14
Hui Li, Yanyan Xu, Hua Mei, Liang Peng, Xiaojie Li, Jianzhou Tang
Abnormal telomerase activity is implicated in cancer initiation and development. The rs2736100 T > G polymorphism in the telomerase reverse transcriptase (TERT) gene, which encodes the telomerase catalytic subunit, has been associated with increased cancer risk. We conducted a meta-analysis to more precisely assess this association. After a comprehensive literature search of the PubMed and EMBASE databases up to November 1, 2016, 61 articles with 72 studies comprising 108,248 cases and 161,472 controls were included in our meta-analysis...
March 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415666/azacitidine-or-intensive-chemotherapy-for-older-patients-with-secondary-or-therapy-related-acute-myeloid-leukemia
#15
Pierre-Yves Dumas, Sarah Bertoli, Emilie Bérard, Clémence Médiavilla, Edwige Yon, Suzanne Tavitian, Thibaut Leguay, Françoise Huguet, Edouard Forcade, Noël Milpied, Audrey Sarry, Mathieu Sauvezie, Pierre Bories, Arnaud Pigneux, Christian Récher
The treatment of older patients with acute myeloid leukemia that is secondary to previous myelodysplastic syndrome, myeloproliferative neoplasm, or prior cytotoxic exposure remains unsatisfactory. We compared 92 and 107 patients treated, respectively, with intensive chemotherapy or azacitidine within two centres. Diagnoses were 37.5% post-myelodysplastic syndrome, 17.4% post-myeloproliferative neoplasia, and 45.1% therapy-related acute myeloid leukemia. Patients treated by chemotherapy had less adverse cytogenetics, higher white blood-cell counts, and were younger: the latter two being independent factors entered into the multivariate analyses...
March 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28415571/increased-b-cell-activation-is-present-in-jak2v617f-mutated-calr-mutated-and-triple-negative-essential-thrombocythemia
#16
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
#17
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
#18
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/28408397/the-il-31-il-31-receptor-axis-general-features-and-role-in-tumor-microenvironment
#19
REVIEW
Elisa Ferretti, Anna Corcione, Vito Pistoia
IL-31 is a recently identified cytokine with a well-defined role in the pathogenesis of pruritus. IL-31, whose production is induced by IL-4 and IL-33, binds a heterodimeric receptor (R) composed of the exclusive IL-31RA chain and the shared oncostatin M R. Signaling through the IL-31R involves the MAPK, PI3K/AKT and Jak/STAT pathways. Different variants and isoforms of IL-31RA with different signaling activities have been identified. IL-31 is produced predominantly by circulating Th2 lymphocytes and skin-homing CLA(+)CD45RO(+) T cells...
April 13, 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/28406068/clinical-and-hematological-relevance-of-jak2-v617f-and-calr-mutations-in-bcr-abl-negative-et-patients
#20
N Limsuwanachot, B Rerkamnuaychoke, S Chuncharunee, T Pauwilai, R Singdong, P Rujirachaivej, T Chareonsirisuthigul, T Siriboonpiputtana
BACKGROUND: Classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia (ET), and primary myelofibrosis frequently harbor JAK2, MPL, and CALR somatic mutations. METHODS: AS-PCR for JAK2 V617F, pyrosequencing for MPL W515L/K, and PCR-fragment analysis for CALR exon 9 mutations were established to analyze genomic DNA isolated from peripheral blood samples of 58 newly diagnosed ET patients in Thailand. RESULTS: JAK2 V617F was detected in 41 patients (71%) and CALR exon 9 mutation was positive in eight patients (14%), whereas no mutation of MPL W515L/K was observed in this study...
April 13, 2017: Hematology (Amsterdam, Netherlands)
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