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Myeloproliferative syndrome

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https://www.readbyqxmd.com/read/29903888/-srsf2-p95h-initiates-myeloid-bias-and-myelodysplastic-myeloproliferative-syndrome-mds-mpn-from-hemopoietic-stem-cells
#1
Monique F Smeets, Shuh Ying Tan, Jane Jialu Xu, Govardhan Anande, Ashwin Unnikrishnan, Alistair M Chalk, Scott R Taylor, John E Pimanda, Meaghan Wall, Louise E Purton, Carl R Walkley
Mutations in SRSF2 occur in myelodysplastic (MDS) and myelodysplastic/myeloproliferative (MDS/MPN) syndromes. SRSF2 mutations cluster at proline 95, with the most frequent a histidine (P95H) substitution. They undergo positive selection, arise early in the course of disease and have been identified in age-related clonal hemopoiesis. It is not clear how mutation of SRSF2 modifies hemopoiesis and contributes to the development of myeloid bias and MDS/MPN. Two prior mouse models of Srsf2P95H mutation have been reported, however these models do not recapitulate many of the clinical features of SRSF2 mutant disease and relied on bone marrow transplantation stress to elicit the reported phenotypes...
June 14, 2018: Blood
https://www.readbyqxmd.com/read/29899671/hydroxyurea-induced-pneumopathy-in-a-patient-with-myeloproliferative-syndrome
#2
Oriol Plans Galván, Hipólito Pérez Moltó, Ariadna Fabià-Mayans, Blanca Xicoy, José Luis Mate, Pilar Ricart Martí
Hydroxyurea (HU) is a drug frequently used in the treatment of chronic myeloproliferative neoplasms. The most common side effects of this drug are pancytopenia, digestive and skin disorders. Respiratory complications are rare and there are less than 20 cases described, only 5 of which underwent an anatomopathological study. We present the case of a patient with chronic myeloproliferative neoplasm who developed interstitial pneumonitis probably due to HU according to histological study.
2018: Clinical Medicine Insights. Case Reports
https://www.readbyqxmd.com/read/29889100/jak-inhibitors-in-autoinflammation
#3
Hal M Hoffman, Lori Broderick
Interferonopathies are a subset of autoinflammatory disorders with a prominent type I IFN gene signature. Treatment of these patients has been challenging, given the lack of response to common autoinflammatory therapeutics including IL-1 and TNF blockade. JAK inhibitors (Jakinibs) are a family of small-molecule inhibitors that target the JAK/STAT signaling pathway and have shown clinical efficacy, with FDA and European Medicines Agency (EMA) approval for arthritic and myeloproliferative syndromes. Sanchez and colleagues repurposed baricitinib to establish a significant role for JAK inhibition as a novel therapy for patients with interferonopathies, demonstrating the power of translational rare disease research with lifesaving effects...
June 11, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29881877/-retinal-manifestation-in-hematological-diseases
#4
M Rehak, N Feltgen, P Meier, P Wiedemann
Hematological diseases can lead to ocular manifestations. Retinal manifestation occurs in patients with anemia, leukemia, lymphoma, myeloproliferative and myelodysplastic syndromes. It is not uncommon for the ocular findings to be the first manifestation of the systemic disease. In these patients the correct diagnosis can be difficult because as a rule the retinal involvement is unspecific. In cases of unexplained retinal changes with hemorrhage and cotton wool spots, an underlying hematological disease should be suspected and the appropriate diagnostics should be recommended...
June 7, 2018: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/29878489/chronic-myelomonocytic-leukemia-2018-update-on-diagnosis-risk-stratification-and-management
#5
Mrinal M Patnaik, Ayalew Tefferi
DISEASE OVERVIEW: Chronic myelomonocytic leukemia (CMML) is a clonal hematopoietic stem cell disorder with overlapping features of myelodysplastic syndromes and myeloproliferative neoplasms, with an inherent risk for leukemic transformation (∼15%-20% over 3-5 years). DIAGNOSIS: Diagnosis is based on the presence of sustained (>3 months) peripheral blood monocytosis (≥1 × 109 /L; monocytes ≥10%), along with bone marrow dysplasia. Clonal cytogenetic abnormalities occur in ∼ 30% of patients, while >90% have gene mutations...
June 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29803757/the-epidemiology-of-budd-chiari-syndrome-in-france
#6
Isabelle Ollivier-Hourmand, Manon Allaire, Nathalie Goutte, Rémy Morello, Carine Chagneau-Derrode, Odile Goria, Jerôme Dumortier, Jean Paul Cervoni, Sébastien Dharancy, Nathalie Ganne-Carrié, Christophe Bureau, Nicolas Carbonell, Armand Abergel, Jean Baptiste Nousbaum, Rodolphe Anty, Hélène Barraud, Marie Pierre Ripault, Victor De Ledinghen, Anne Minello, Frédéric Oberti, Sylvie Radenne, Noelle Bendersky, Olivier Farges, Isabelle Archambeaud, Anne Guillygomarc'h, Marie Ecochard, Violaine Ozenne, Marie Noelle Hilleret, Eric Nguyen-Khac, Barbara Dauvois, Jean Marc Perarnau, Pascale Lefilliatre, Jean Jacques Raabe, Michel Doffoel, Jean Philippe Becquart, Eric Saillard, Dominique Valla, Thong Dao, Aurélie Plessier
INTRODUCTION: Epidemiological data is lacking on primary Budd-Chiari syndrome (BCS) in France. METHODS: Two approaches were used: (1) A nationwide survey in specialized liver units for French adults. (2) A query of the French database of discharge diagnoses screening to identify incident cases in adults. BCS associated with cancer, alcoholic/viral cirrhosis, or occurring after liver transplantation were classified as secondary. RESULTS: Approach (1) 178 primary BCS were identified (prevalence 4...
April 12, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29803161/prevalence-of-calr-mutations-in-splanchnic-vein-thrombosis-a-systematic-review-and-meta-analysis
#7
REVIEW
Miaomiao Li, Valerio De Stefano, Tingxue Song, Xinmiao Zhou, Zeqi Guo, Jia Zhu, Xingshun Qi
BACKGROUND: The prevalence of calreticulin (CALR) mutations in splanchnic vein thrombosis (SVT) varies among studies. The role of routine screening for CALR mutations in SVT patients remains a debate. AIM: To synthesize the prevalence of CALR mutations according to the different types (i.e., Budd-Chiari syndrome [BCS] and portal vein thrombosis [PVT]) and characteristics (i.e., with and without myeloproliferative neoplasms [MPNs] and JAK2V617F mutation) of SVT patients...
May 8, 2018: Thrombosis Research
https://www.readbyqxmd.com/read/29795413/consequences-of-mutant-tet2-on-clonality-and-subclonal-hierarchy
#8
Cassandra M Hirsch, Aziz Nazha, Kassy Kneen, Mohamed E Abazeed, Manja Meggendorfer, Bartlomiej P Przychodzen, Niroshan Nadarajah, Vera Adema, Yasunobu Nagata, Abhinav Goyal, Hassan Awada, Mohammad Fahad Asad, Valeria Visconte, Yihong Guan, Mikkael A Sekeres, Ryszard Olinski, Babal Kant Jha, Thomas LaFramboise, Tomas Radivoyevitch, Torsten Haferlach, Jaroslaw P Maciejewski
Somatic mutations in TET2 are common in myelodysplastic syndromes (MDS), myeloproliferative, and overlap syndromes. TET2 mutant (TET2 MT ) clones are also found in asymptomatic elderly individuals, a condition referred to as clonal hematopoiesis of indeterminate potential (CHIP). In various entities of TET2 MT neoplasia, we examined the phenotype in relation to the strata of TET2 hits within the clonal hierarchy. Using deep sequencing, 1781 mutations were found in 1205 of 4930 patients; 40% of mutant cases were biallelic...
May 24, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29773831/dnajc17-is-localized-in-nuclear-speckles-and-interacts-with-splicing-machinery-components
#9
A Pascarella, G Ferrandino, S C Credendino, C Moccia, F D'Angelo, B Miranda, C D'Ambrosio, P Bielli, O Spadaro, M Ceccarelli, A Scaloni, C Sette, M De Felice, G De Vita, E Amendola
DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, while heterozygous mutations represent candidate pathogenic events for myeloproliferative disorders. Despite widespread expression and involvement in human diseases, DNAJC17 function is still poorly understood. Herein, we have investigated its function through high-throughput transcriptomic and proteomic approaches...
May 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29761371/tolerability-and-efficacy-of-deferasirox-in-patients-with-transfusional-iron-overload-results-from-a-german-2-year-non-interventional-study
#10
Florian Nolte, Holger Nückel, Burkhard Schmidt, Thomas Geer, Oleg Rubanov, Holger Hebart, Andrea Jarisch, Stefan Albrecht, Christiane Johr, Christiane Schumann, Wolf-Karsten Hofmann
BACKGROUND: Iron overload (IOL) due to repetitive transfusions of packed red blood cells (pRBC) has a major impact on morbidity and mortality in patients with inherited bone marrow failure syndromes and hemoglobinopathies such as thalassemia and sickle cell disease. However, whether IOL influences the outcome of elderly patients with myeloid malignancies is not yet clear. Moreover, clinical trials have reported high drop-out rates during treatment with the oral iron chelator deferasirox (DFX)...
May 14, 2018: Journal of Cancer Research and Clinical Oncology
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
#11
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/29732039/jak-2-mutation-frequency-in-patients-with-thrombocytosis
#12
Osman Yokus, Habip Gedik
Background: We aimed to investigate the etiologic causes and the existence of Janus kinase 2 mutation (JAK2) in cases with thrombocytosis. Methods: In this retrospective study, patients who were admitted to hematology clinic with thrombocytosis between 2013 and 2015 were investigated in terms of the etiological causes of thrombocytosis and the existence of JAK2 mutation. Results: We retrospectively evaluated 136 cases that underwent JAK2 mutation analysis due to ET preliminary diagnosis in our hematology clinic...
2018: Caspian Journal of Internal Medicine
https://www.readbyqxmd.com/read/29703879/progressive-pulmonary-vein-stenosis-in-down-syndrome-infant-a-rare-cause-of-pulmonary-hypertension
#13
Z Norazah, D S Joyce Darshinee
Pulmonary veins stenosis in a Down Syndrome infant with normal connection pulmonary vein is rare and precise incidence of this disease is unknown. We report a case of progressive multiple pulmonary vein stenosis in a Down Syndrome infant with congenital heart disease and transient myeloproliferative leukaemia. This case-report aims to improve awareness among physicians and sonographers of this disease and the importance of pulmonary vein assessment in congenital heart disease with unexplained pulmonary hypertension...
April 2018: Medical Journal of Malaysia
https://www.readbyqxmd.com/read/29684340/myeloid-sarcoma-with-megakaryoblastic-differentiation-presenting-as-a-breast-mass
#14
Ifeyinwa E Obiorah, Metin Ozdemirli
Myeloid sarcoma is an extramedullary tumor that consists of myeloblasts or immature myeloid cells. The neoplasm can occur in any part of the body, including the bone, periosteum, lymph nodes, skin, and soft tissue and they may occur de novo or in association with acute myeloid leukemia, myeloproliferative neoplasms and myelodysplastic syndromes. Most cases display a myelomonocytic or pure monoblastic morphology. Tumors with megakaryoblastic differentiation are extremely uncommon and may occur in association with transformation of a myeloproliferative disorder...
April 17, 2018: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/29684235/implications-of-mutation-profiling-in-myeloid-malignancies-part-1-myelodysplastic-syndromes-and-acute-myeloid-leukemia
#15
REVIEW
Douglas Tremblay, Kelsey Sokol, Sheena Bhalla, Raajit Rampal, John O Mascarenhas
The advent of high-throughput gene sequencing has revolutionized our understanding of the genetic mutations that drive myeloid malignancies. While these mutations are of interest pathobiologically, they are increasingly being recognized as clinically meaningful in providing diagnostic, prognostic, and therapeutic information to guide patient care. In this first part of our two-part review, we introduce mutation profiling as a relevant clinical tool for hematologists treating patients with myeloid malignancies...
April 15, 2018: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/29682367/myelodysplastic-syndrome-acute-myeloid-leukemia-arising-in-idiopathic-erythrocytosis
#16
Stephen E Langabeer, Eibhlin Conneally, Catherine M Flynn
The term "idiopathic erythrocytosis (IE)" is applied to those cases where a causal clinical or pathological event cannot be elucidated and likely reflects a spectrum of underlying medical and molecular abnormalities. The clinical course of a patient with IE is described manifesting as a persistent erythrocytosis with a low serum erythropoietin level, mild eosinophilia, and with evidence of a thrombotic event. The patient subsequently developed a myelodysplasic syndrome (MDS) and acute myeloid leukemia (AML), an event not observed in erythrocytosis patients other than those with polycythemia vera (PV)...
2018: Case Reports in Hematology
https://www.readbyqxmd.com/read/29670795/pulmonary-vasculitis-and-a-horseshoe-kidney-in-noonan-syndrome
#17
Surasak Puvabanditsin, Rosanna Abellar, Adaora Madubuko, Rajeev Mehta, Lauren Walzer
We report a term male neonate with congenital myeloproliferative disorder, thrombocytopenia, a horseshoe kidney, feeding difficulty secondary to dysphagia/foregut dysmotility, and respiratory failure. Prenatal molecular genetic analysis revealed a fetus carrying c.184T>G (p.Tyr62Asp) pathogenic variant in PTPN11 . The infant eventually succumbed to respiratory failure. Bacterial and viral cultures/studies were all no growth/negative. Pulmonary capillaritis and vasculitis were noted at autopsy. This report presents a new case of Noonan syndrome with unusual associated disorders and a review of the literature...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29660912/increased-plasma-viscosity-in-plasma-cell-dyscrasia-and-whole-blood-viscosity-in-polycythemia-vera
#18
Dong Woo Shin, Ja-Yoon Gu, Jun Sik Kim, Jae-Seol Jung, Dong-Yeop Shin, Youngil Koh, Inho Kim, Hyun Kyung Kim
BACKGROUND: Although hyperviscosity syndrome in plasma cell dyscrasia (PCD) and thrombosis in myeloproliferative neoplasm (MPN) are major causes of morbidity and mortality, blood viscosity measurements are often underutilized. OBJECTIVE: This study aimed to characterize whether whole blood viscosity (WBV) or plasma viscosity (PV) could be predictive of hyperviscosity syndrome in PCD and could be elevated in subgroups of MPN. METHODS: A total of 75 patients with hematologic diseases: PCD (n = 26), MPN (n = 25) including polycythemia vera (P...
April 13, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29614500/precursor-t-lymphoblastic-lymphoma-associated-with-t-8-9-p11-2-q33-a-case-report-and-review-of-the-literature
#19
Hui Lv, Shaoyan Hu, Jun Lu, Qin Zhai, Zong Zhai, Zhizhuo Du, Yina Sun, Jie Li, Hailong He, Yi Wang
The 8p11 myeloproliferative syndrome (EMS) is an aggressive neoplasm associated with chromosomal translocations involving the fibroblast growth factor receptor 1 (FGFR1) tyrosine kinase gene on chromosome 8p11-12. A new case of a 9-year-old boy with leukocytosis, eosinophilia, and general lymphadenopathy is reported in this study. Bone marrow examination showed eosinophilic hyperplasia, with blast cells amounting to 6-7%. Karyotyping revealed cytogenetic abnormalities, including t(8;9)(p11.2;q3?3). Fluorescence in situ hybridization for the FGFR1 gene rearrangement yielded positive results...
2018: Acta Haematologica
https://www.readbyqxmd.com/read/29596070/chronic-myelomonocytic-leukemia-with-fibrosis-is-a-distinct-disease-subset-with-myeloproliferative-features-and-frequent-jak2-p-v617f-mutations
#20
Hatice D Gur, Sanam Loghavi, Guillermo Garcia-Manero, Mark Routbort, Rashmi Kanagal-Shamanna, Andres Quesada, Haitham Khogeer, Sherry Pierce, L Jeffrey Medeiros, Hagop Kantarjian, Joseph D Khoury
A subset of patients with chronic myelomonocytic leukemia (CMML) presents with significance myelofibrosis. In myelodysplastic syndromes, significant myelofibrosis has been associated with adverse outcomes and p53 dysregulation. However, in CMML the clinical and molecular correlates of significant myelofibrosis at presentation remain poorly understood. From a cohort of 651 CMML patients, we identified retrospectively 20 (3.1%) cases with moderate to severe reticulin fibrosis (CMML-F) detected at diagnosis, and we compared them to CMML patients without fibrosis (n=631) seen during the same period...
June 2018: American Journal of Surgical Pathology
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