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Primary myelofibrosis

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https://www.readbyqxmd.com/read/29745886/primary-myelofibrosis-but-not-autoimmune-myelofibrosis-accompanied-by-sj%C3%A3-gren-s-syndrome-and-primary-biliary-cirrhosis-in-a-patient-with-trisomy-8-mosaic-a-case-report-and-literature-review
#1
Chenyang Lu, Xiaoyan Wu, Hongyan Wen, Huiying Gao, Caihong Wang, Bo Yang, Zhipeng Liang, Chong Gao, Xiaofeng Li
Bone marrow fibrosis has been found to be associated with autoimmune disorders, and autoimmune myelofibrosis (AIMF) has been defined. Primary myelofibrosis (PMF), a clonal myeloproliferative disorder, should be distinguished from AIMF which has a good response to steroids, as the former has a high mortality and very bad response to conventional treatment. This case report describes a rare case of PMF accompanied with Sjögren's syndrome (SJS) and primary biliary cirrhosis (PBC), in a patient with trisomy 8 mosaic...
May 10, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29728434/focal-segmental-glomerulosclerosis-in-a-patient-with-prefibrotic-primary-myelofibrosis
#2
Gopal Krishana Bohra, Durga Shankar Meena, Nitin Bajpai, Abhishek Purohit
We report a case of 56-year-old man presented to us with chief complaints of frothy urine and leg swelling. A urinalysis revealed nephrotic-range proteinuria. Haematological investigations revealed thrombocytosis, leucocytosis and peripheral blood smear showed a leucoerythroblastic picture. JAK 2 mutation was positive. To confirm the diagnosis of myeloproliferative neoplasm, bone marrow biopsy was done, which was suggestive of primary myelofibrosis. The patient underwent kidney biopsy due to rapidly declining renal function and persistent proteinuria, which was suggestive of focal segmental glomerulosclerosis...
May 4, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29727699/pyrosequencing-based-quantitative-measurement-of-calr-mutation-allele-burdens-and-their-clinical-implications-in-patients-with-myeloproliferative-neoplasms
#3
Yejin Oh, Ik-Chan Song, Jimyung Kim, Gye Cheol Kwon, Sun Hoe Koo, Seon Young Kim
BACKGROUND: We developed a pyrosequencing-based method for the quantification of CALR mutations and compared the results using Sanger sequencing, fragment length analysis (FLA), digital-droplet PCR (ddPCR), and next-generation sequencing (NGS). METHODS: Method validation studies were performed using cloned plasmid controls. Samples from 24 patients with myeloproliferative neoplasms were evaluated. RESULTS: Among the 24 patients, 15 had CALR mutations (7 type 1, 2 type 2, and 6 other mutations)...
May 1, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29713873/post-et-and-post-pv-myelofibrosis-updates-on-a-distinct-prognosis-from-primary-myelofibrosis
#4
REVIEW
Francesco Passamonti, Barbara Mora, Daniela Barraco, Margherita Maffioli
PURPOSE OF REVIEW: The purpose of this review is to help doctors in the management of patients with post-polycythemia (PPV) and post-essential thrombocythemia (PET) myelofibrosis (MF) facing diagnostic criteria, prognostication, and treatment possibilities. RECENT FINDINGS: Diagnostic criteria of primary myelofibrosis (PMF) have been recently updated from the WHO classification. A clear-cut distinction between pre-fibrotic and overt PMF has been done. Concerning PPV and PET MF, the criteria come from 2008...
April 30, 2018: Current Hematologic Malignancy Reports
https://www.readbyqxmd.com/read/29713554/postinfantile-giant-cell-hepatitis-with-features-of-acute-severe-autoimmune-hepatitis-probably-triggered-by-diclofenac-in-a-patient-with-primary-myelofibrosis
#5
Pinelopi Arvaniti, Kalliopi Zachou, George K Koukoulis, George N Dalekos
Giant cell hepatitis (GCH) is commonly reported in neonatal and infantile liver diseases but rarely in adults where the term postinfantile GCH (PIGCH) is used. PIGCH is associated with many diseases, including drugs toxicity, viruses, and autoimmune liver diseases, with autoimmune hepatitis (AIH) being the most prevalent. We present a case of PIGCH in a 76-year-old female without known history of liver disease who suffered from an acute severe episode of hepatitis. After careful exclusion of other hepatitis causes by imaging, virological, immunological, and microbiological investigations, a diagnosis of acute severe AIH (AS-AIH) was established...
2018: Case Reports in Hepatology
https://www.readbyqxmd.com/read/29708808/mipss70-version-2-0-mutation-and-karyotype-enhanced-international-prognostic-scoring-system-for-primary-myelofibrosis
#6
Ayalew Tefferi, Paola Guglielmelli, Terra L Lasho, Naseema Gangat, Rhett P Ketterling, Animesh Pardanani, Alessandro M Vannucchi
No abstract text is available yet for this article.
April 30, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29683036/assessment-of-endothelial-dysfunction-with-flow-mediated-dilatation-in-myeloproliferative-disorders
#7
Abdulkerim Yildiz, Melike Güryildirim, Mehmet Sezgin Pepeler, Merve Yazol, Suna Özhan Oktar, Kadir Acar
BACKGROUND: Thrombosis is the most important cardiovascular complication of classical myeloproliferative disorders (MPDs). Endothelial dysfunction (ED) is known to play a major role in the mechanism of thrombophilia in MPDs. METHODS: Endothelial dysfunction and its associations with other parameters were investigated. A total of 18 patients with polycythemia vera (PV), 24 with essential thrombocytosis (ET), 7 with primary myelofibrosis (PMF), and 30 healthy patients as a control group were included in the study...
January 1, 2018: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/29667765/molecular-profile-of-inflammatory-and-megakaryocytic-factors-in-pediatric-myelodysplastic-syndrome-with-acute-myelofibrosis
#8
Kais Hussein, Meinolf Suttorp, Angelika Stucki-Koch, Irith Baumann, Charlotte M Niemeyer, Hans Kreipe
Pediatric fibrotic myelodysplastic syndromes (ped-MDS-MF) and pediatric primary myelofibrosis (ped-PMF) are rare, and the molecular changes which mediate fibrosis have never been investigated. Histology and gene expression profile of 119 fibrosis/angiogenesis/inflammation/megakaryopoiesis-related factors in bone marrow biopsies were performed (two ped-MDS-MF and one ped-PMF). In one progressive ped-MDS, comparison of MF grade 0 (no myelofibrosis) and MF grade 2 (dense network of reticulin fibres) after 4 months showed that expression of fibrosis-related transcripts increased and dysplastic megakaryocytes formed a dense net of CD42b+ proplatelets...
April 18, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29665937/-current-understanding-of-myeloproliferative-neoplasm-related-gene-mutations-and-cytokine-review
#9
Zhi-Peng He, Yong Wu
Myeloproliferative neoplasm(MPN) is clonal hematopoietic stem cell disorder characterized by abnormal proliferation and expansion of one or more myeloid lineages. BCR-ABL-negative MPN includes polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The mutations of JAK2, CALR and MPL genes are involved in the pathogenesis of MPN that provided a more complete molecular diagnostic standard for MPN. More and more new mutated genes related to prognosis of MPN were discovered in the past few years, at same time it was found that cytokines were also involved in the genesis and development of MPN...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29665657/recent-advances-in-the-diagnosis-and-management-of-primary-myelofibrosis
#10
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/29651917/erythematous-skin-lesions-with-necrotic-centers-on-lower-extremities-due-to-the-use-of-ruxolitinib-for-primary-myelofibrosis
#11
Constantin A Dasanu
Ruxolitinib is a small molecule JAK-2 inhibitor approved for the treatment of certain myeloproliferative neoplasms. Ruxolitinib-related skin toxicity is extremely rare. We report herein an unusual erythematous skin eruption with necrotic centers involving lower extremities in a patient with primary myelofibrosis treated with ruxolitinib. Awareness of this unusual skin toxicity with ruxolitinib becomes even more important as JAK-2 inhibition might soon find clinical applications in dermatology.
January 1, 2018: Journal of Oncology Pharmacy Practice
https://www.readbyqxmd.com/read/29650801/the-role-of-jak2-inhibitors-in-mpn-seven-years-after-approval
#12
Francesco Passamonti, Margherita Maffioli
Myeloproliferative neoplasms (MPNs) include essential thrombocythemia, polycythemia vera (PV) and primary myelofibrosis (PMF). Phenotype-driver mutations of JAK2, CALR and MPL genes are present in MPNs and can be variably combined with additional mutations. Driver mutations entail a constitutive activation of the JAK2/STAT pathway, the key signaling cascade in MPNs. Among JAK2 inhibitors (JAKis), ruxolitinib (RUX) has been approved for the treatment of intermediate and high risk myelofibrosis (MF) and of PV inadequately controlled by or intolerant of hydroxyurea...
April 12, 2018: Blood
https://www.readbyqxmd.com/read/29618692/-transfusion-independence-achieved-with-pomalidomide-therapy-in-a-patient-with-primary-myelofibrosis
#13
Yoko Edahiro, Akihiko Gotoh, Tadaaki Inano, Miyuki Tsutsui, Yutaka Tsukune, Hajime Yasuda, Norio Komatsu
Primary myelofibrosis (PMF) is commonly associated with anemia. IMiD® immunomodulatory drugs including thalidomide and lenalidomide have been shown to be effective in improving anemia associated with PMF. However, because of adverse events, their use has been restricted. Herein we report the case of a 67-year-old male patient with transfusion-dependent PMF treated with the immunomodulatory drug pomalidomide in a clinical trial. Significant improvements in anemia and thrombocytopenia were observed with pomalidomide, and the patient recovered from transfusion dependence for 8 months...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29617043/a-novel-type-of-2-base-pair-frameshift-calr-mutation-in-a-patient-with-myeloproliferative-neoplasm
#14
Hyun-Young Kim, Jong-Won Kim, Sun-Hee Kim, Myung Hee Chang, Hee-Jin Kim
Somatic CALR mutations have been identified in the majority of JAK2 mutation-negative essential thrombocythaemia (ET) and primary myelofibrosis. Almost all CALR mutations have been reported to typically generate a +1-base pair (bp) frameshift in the open reading frame. Here, we describe an ET patient with a +2-bp frameshift CALR mutation. A 41-year-old man was admitted because of headache, and diagnosed as JAK2-negative ET. After 4 years, his disease progressed to post-ET myelofibrosis, and CALR mutation analysis demonstrated a +2-bp frameshift CALR mutation caused by two different CALR mutations, c...
April 4, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29611379/gata1-expression-in-bcr-abl1-negative-myeloproliferative-neoplasms
#15
Naery Yang, Sholhui Park, Min Sun Cho, Miae Lee, Ki Sook Hong, Yeung Chul Mun, Chu Myong Seong, Hee Jin Huh, Jungwon Huh
BACKGROUND: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs). METHODS: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records...
July 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29575945/current-approaches-to-challenging-scenarios-in-myeloproliferative-neoplasms
#16
Eran Zimran, Ronald Hoffman, Marina Kremyanskaya
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) including polycythemia vera, essential thrombocythemia and primary myelofibrosis are clonal hematological malignancies that originate at the level of the hematopoietic stem cell, and are characterized by excessive proliferation of cells belonging to one or more of the myeloid lineages. Central to the pathogenesis of the MPNs is constitutive activation of the JAK/STAT signaling pathway due to a family of driver mutations affecting JAK2, CALR or MPL...
June 2018: Expert Review of Anticancer Therapy
https://www.readbyqxmd.com/read/29569103/acute-myeloid-leukemia-with-translocation-1-21
#17
Ameer Hamza, Uqba Khan, Sidrah Khawar, Daniel Snower
Advancement in genetic and molecular biology techniques has greatly helped our understanding of various diseases, especially hematological disorders. We describe a case of primary myelofibrosis (PMF) that transformed into acute myeloid leukemia with a very rare and unusual genetic translocation of (1;21). There are only five reported cases of this translocation in acute myeloid leukemia (AML) or myelodysplastic syndrome but none of them transformed from PMF. This case not only highlights the importance of rare genetic translocations but also provides the natural history of the disease and its poor prognosis...
March 22, 2018: Molecular Biology Reports
https://www.readbyqxmd.com/read/29568091/sex-and-degree-of-severity-influence-the-prognostic-impact-of-anemia-in-primary-myelofibrosis-analysis-based-on-1109-consecutive-patients
#18
Maura Nicolosi, Mythri Mudireddy, Terra L Lasho, Curtis A Hanson, Rhett P Ketterling, Naseema Gangat, Animesh Pardanani, Ayalew Tefferi
No abstract text is available yet for this article.
January 30, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29565699/jak2-v617f-mutation-in-plasma-cell-free-dna-preceding-clinically-overt-myelofibrosis-implications-for-early-diagnosis
#19
Michael Y Choi, Shumei Kato, Huan-You Wang, Jonathan H Lin, Richard B Lanman, Razelle Kurzrock
A 52 year-old man with Erdheim-Chester Disease (ECD) (a non-Lanherhans polyostotic sclerosing histiocytosis) had next-generation sequencing (NGS) performed as part of his diagnostic workup. In addition to the tissue BRAF V600E mutation that is found in over 50% of ECD cases, he was also found to have a JAK2 V617F alteration in cell-free circulating tumor DNA (ctDNA) (liquid biopsy). The latter was thought to be an "incidental" finding, perhaps due to clonal hematopoiesis (though this usually occurs in older individuals), as his blood counts were normal and he had no splenomegaly...
March 22, 2018: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29560522/elevated-expression-of-the-ezh2-gene-in-calr-mutated-patients-with-primary-myelofibrosis
#20
Ni Fan, Yigui Tang, Zhiyuan Wu, Ming Guan, Bobin Chen, Xiaoping Xu, Weizhe Ma, Xiao Xu, Xinju Zhang
Primary myelofibrosis (PMF) is one of the BCR/ABL-negative myeloproliferative neoplasms (MPNs), characterized by the diffuse fibrous hyperproliferation, bone marrow osteosclerosis, extramedullary hematopoiesis, and marked splenomegaly. The patients with PMF have an insidious onset, a long duration of clinical course, and the deteriorated quality of life. It has been reported that the CALR gene 9 exon mutations were detected in 25-30% PMF patients, particularly as high as 80% in the JAK2/MPL-negative ones. As the second most common mutation in BCR/ABL-negative MPNs, CALR mutation has been included in the latest World Health Organization (WHO) classification criteria as one of the main diagnostic criteria for both essential thrombocythemia (ET) and PMF...
March 20, 2018: Annals of Hematology
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