5,185 results match your criteria Thrombocytosis Essential


Quantification of JAK2V617F mutation load by droplet digital PCR can aid in diagnosis of myeloproliferative neoplasms.

Int J Lab Hematol 2021 May 11. Epub 2021 May 11.

Institute of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, China.

Introduction: This study developed a method for quantifying the JAK2V617F mutation load in patients with myeloproliferative neoplasm (MPN) using droplet digital PCR (ddPCR), which provides a new laboratory method for diagnosing polycythemia vera (PV), essential thrombocythemia (ET), and pre-primary myelofibrosis (pre-PMF).

Methods: Patients with MPN who had JAK2V617F mutations from March 2013 to August 2019 were enrolled in this study. JAK2V617F mutation loads were quantified using ddPCR technology. Read More

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Pseudohyperkalaemia in essential thrombocytosis: an important clinical reminder.

Endocrinol Diabetes Metab Case Rep 2021 Apr 1;2021. Epub 2021 Apr 1.

Mater Dei Hospital of Malta, Department of Medicine, Msida, Malta.

Summary: An 82-year-old female was admitted to a general hospital due to progressive bilateral lower limb weakness. A T8-T9 extramedullary meningioma was diagnosed by MRI, and the patient was referred for excision of the tumour. During the patient's admission, she was noted to have persistent hyperkalaemia which was refractory to treatment. Read More

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Leg ulcer with long-term hydroxyurea use.

Clin Case Rep 2021 Apr 24;9(4):2487-2488. Epub 2021 Feb 24.

Department of Hematology & Oncology Rochester General Hospital Rochester NY USA.

Long-term use of hydroxyurea can cause leg ulcers which usually do not heal unless the drug is discontinued. Patients should be counseled regarding alternative lines of treatment like anagrelide and pegylated-interferon. Read More

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JAK2, CALR, and MPL Mutation Profiles in BCR-ABL Negative Myeloproliferative Neoplasms, a Referral Center Experience in the Middle East.

Iran J Pathol 2021 24;16(2):190-194. Epub 2021 Jan 24.

Molecular Pathology and Cytogenetic Section, Department of Pathology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

Background & Objective: JAK2, CALR, and MPL genes play pivotal roles in the pathogenesis of BCR-ABL negative myeloproliferative neoplasms. This study was conducted to evaluate the frequency of JAK2, CALR, and MPL mutations in BCR-ABL negative myeloproliferative neoplasms and their association with demographic data and hematologic parameters in a referral center, in the Middle East.

Methods: Seventy-one patients with BCR-ABL negative myeloproliferative neoplasms were evaluated for JAK2 V617F, CALR type 1, CALR type 2, and MPL by allele-specific PCR and conventional PCR from 2018 to 2019. Read More

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January 2021

Disease modifying agents of myeloproliferative neoplasms: a review.

Authors:
Sung-Eun Lee

Blood Res 2021 Apr;56(S1):S26-S33

Department of Hematology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

The identification of driver mutations in Janus kinase () 2, calreticulin (), and myeloproliferative leukemia () has contributed to a better understanding of disease pathogenesis by highlighting the importance of JAK signal transducer and activator of transcription (STAT) signaling in classical myeloproliferative neoplasms (MPNs). This has led to the therapeutic use of novel targeted treatments, such as JAK2 inhibitors. More recently, with the development of next-generation sequencing, additional somatic mutations, which are not restricted to MPNs, have been elucidated. Read More

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Novel findings of splenic extramedullary hematopoiesis during primary myelofibrosis, post-essential thrombocythemia, and post-polycythemia vera myelofibrosis.

Virchows Arch 2021 May 1. Epub 2021 May 1.

Pathology Department, University Hospital Center of Bordeaux, Haut-Lévêque Hospital, 33600, Pessac, France.

BCR-ABL-fusion-negative myeloproliferative neoplasms (MPNs) with myelofibrosis (MF) include primary MF, post-polycythemia vera MF and post-essential thrombocythemia MF. Clonal extramedullary hematopoiesis (EMH) can occur during MPN pathogenesis. Although histopathological bone-marrow (BM) features during clonal EMH have been investigated, those of the spleen have been poorly described. Read More

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Low V617F Allele Burden in Ph-Negative Chronic Myeloproliferative Neoplasms Is Associated with Additional or Gene Mutations.

Genes (Basel) 2021 Apr 12;12(4). Epub 2021 Apr 12.

National Research Center for Hematology, Novy Zykovski lane 4a, 125167 Moscow, Russia.

(Janus kinase 2) V617F, (Calreticulin) exon 9, and (receptor for thrombopoietin) exon 10 mutations are associated with the vast majority of Ph-negative chronic myeloproliferative neoplasms (MPNs). These mutations affect sequential stages of proliferative signal transduction and therefore, after the emergence of one type of mutation, other types should not have any selective advantages for clonal expansion. However, simultaneous findings of these mutations have been reported by different investigators in up to 10% of MPN cases. Read More

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Long-standing purpuric exanthema.

JAAD Case Rep 2021 May 13;11:38-40. Epub 2021 Mar 13.

Department of Dermatology and Venereology, Medical University of Graz, Graz, Austria.

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Clinical Characteristics and Management of Cerebral Venous Sinus Thrombosis in Patients with Essential Thrombocythemia.

Neuropsychiatr Dis Treat 2021 22;17:1195-1206. Epub 2021 Apr 22.

Department of Emergency, Xuanwu Hospital, Capital Medical University, Beijing, People's Republic of China.

Background And Objective: Essential thrombocythemia (ET) is a rare cause of cerebral venous sinus thrombosis (CVST). Analysis of the risk factors and treatment therapies of CVST in ET has yielded controversial findings.

Subjects And Methods: We retrospectively investigated the clinical characteristics of CVST events in ET and compared baseline characteristics, causative factors, hematological effects, and treatments between ET patients with and without CVST. Read More

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Are polycythemia vera, essential thrombocytosis, and primary myelofibrosis 1, 2, or 3 diseases?

Authors:
Jerry L Spivak

Leukemia 2021 Apr 28. Epub 2021 Apr 28.

Division of Hematology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.

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Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs.

Asian Pac J Cancer Prev 2021 Apr 1;22(4):1195-1201. Epub 2021 Apr 1.

Hematology Unit, Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, Egypt.

Background: Philadelphia-negative myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis are clonal haematopoietic stem cell disorders characterized by dysregulated proliferation. The arterial and venous thromboses are the major causes of morbidity and mortality in MPNs. The platelet GP Ib-IX-V receptor complex plays an important role in thrombus formation as the Kozak sequence polymorphism of platelet GP Ibα is associated with increased receptor density. Read More

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Co-occurrence of unclassified myeloproliferative neoplasm and giant cell arteritis in a patient treated with allogeneic hematopoietic stem cell transplantation: a case report and literature review.

Cent Eur J Immunol 2021 18;46(1):121-126. Epub 2021 Apr 18.

Department of Hematology, Wroclaw Medical University, Wroclaw, Poland.

Myeloproliferative neoplasms (MPNs) are a group of hematologic disorders characterized by clonal proliferation of myeloid lineage cells. The diagnostic criteria are based on morphological features of bone marrow and peripheral blood cells but also include specific genomic mutations. In some patients, co-occurrence of hematologic and rheumatic diseases could be observed. Read More

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Low-Risk Essential Thrombocythemia: A Comprehensive Review.

Hemasphere 2021 Feb 27;5(2):e521. Epub 2021 Jan 27.

Haematopathology and Oncology Diagnostics Service/Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm characterized by a persistently elevated platelet count in the absence of a secondary cause. The clinical consequences of uncontrolled thrombocytosis can include both thrombosis and hemorrhage. Patients with features conferring a "high risk" of vascular events benefit from reduction of the platelet count through cytoreductive therapy. Read More

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February 2021

The value of bone marrow, liver, and spleen imaging in diagnosis, prognostication, and follow-up monitoring of myeloproliferative neoplasms: a systematic review.

Cancer Imaging 2021 Apr 20;21(1):36. Epub 2021 Apr 20.

Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081HV, Amsterdam, The Netherlands.

Background: Diagnostic and treatment response criteria for the JAK2/CALR/MPL mutation-related myeloproliferative neoplasms (MPNs) are largely based on bone marrow (BM) biopsy results. However, these biopsies have several limitations, such as the risk of sampling error. Also, the prognostic impact of BM abnormalities is largely unclear. Read More

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Analysis of Common Driver Mutations in Philadelphia-Negative Myeloproliferative Neoplasms.

Clin Lymphoma Myeloma Leuk 2021 Mar 20. Epub 2021 Mar 20.

Seventh Year Medical Student, Faculty of Medicine, Kuwait University, Jabriya, Kuwait.

Background: Philadelphia-negative myeloproliferative neoplasms (MPNs) are a group of hematopoietic stem cell disorders that include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This study examines the driver mutations among patients with MPNs in Kuwait.

Patients And Methods: This study was a retrospective review of 942 MPN cases with a driver mutation from July 2007 to June 2019 to examine their demographic, clinical, and laboratory attributes. Read More

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Antithrombotic Management in Ischemic Stroke with Essential Thrombocythemia: Current Evidence and Dilemmas.

Med Princ Pract 2021 Apr 13. Epub 2021 Apr 13.

Thrombotic diseases like ischemic stroke are common complications of essential thrombocythemia (ET) due to abnormal megakaryopoiesis and platelet dysfunction. Ischemic stroke in ET can occur as a result of both cerebral arterial and venous thrombosis. Management of ET is aimed at preventing vascular complications including thrombosis. Read More

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Venetoclax with azacitidine or decitabine in blast-phase myeloproliferative neoplasm: A multicenter series of 32 consecutive cases.

Am J Hematol 2021 Apr 12. Epub 2021 Apr 12.

Division of Hematology, Mayo Clinic, Rochester, Minnesota, USA.

Venetoclax (Ven) combined with a hypomethylating agent (HMA) has now emerged as an effective treatment regimen for acute myeloid leukemia, in both de novo and relapsed/refractory setting. The current multicenter study retrospectively examined Ven + HMA treatment outcome among 32 patients (median age 69 years; 59% males) with blast-phase myeloproliferative neoplasm (MPN-BP). Pre-leukemic phenotype included essential thrombocythemia (ET)/post-ET myelofibrosis (34%), polycythemia vera (PV)/post-PV myelofibrosis (38%) and primary myelofibrosis (28%). Read More

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Disease and Clinical Characteristics of Patients With a Clinical Diagnosis of Essential Thrombocythemia Enrolled in the MOST Study.

Clin Lymphoma Myeloma Leuk 2021 Mar 1. Epub 2021 Mar 1.

Division of Hematology/Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY.

Few data exist regarding the disease and clinical characteristics of patients with essential thrombocythemia (ET) in the United States. The ongoing, multicenter, noninterventional, prospective, Myelofibrosis and Essential Thrombocythemia Observational STudy (MOST) was designed to collect data pertaining to the demographics, clinical management, and patient-reported outcomes in patients with myelofibrosis or ET in the United States (NCT02953704). This analysis examines the clinical characteristics of patients with clinical diagnoses of high-risk or low-risk ET receiving ET-directed therapy at enrollment. Read More

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Myeloproliferative neoplasms and clonal hematopoiesis in patients with giant cell arteritis: a case-control and exploratory study.

Rheumatology (Oxford) 2021 Apr 9. Epub 2021 Apr 9.

Department of Internal Medicine, Cochin Hospital, National Referral Center for Rare Systemic Autoimmune Diseases, Paris University, Paris, France.

Objectives: Giant cell arteritis (GCA) is a large vessel vasculitis for which triggering factors remain unknown. Clonal hematopoiesis (CH) was associated with atherosclerosis through the induction of inflammation in myeloid cells, and data suggest that CH expansion and inflammation may support each other to induce a proinflammatory loop. Our objective was to describe the impact of JAK2p. Read More

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The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms.

Int J Mol Sci 2021 Mar 25;22(7). Epub 2021 Mar 25.

Department of Hematology, University Medical Centre Ljubljana, Zaloška 7, 1000 Ljubljana, Slovenia.

mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several mutations were identified, with only frameshift mutations linked to the diseased phenotype. It is of diagnostic and prognostic importance to properly define the type of mutation and subclassify it according to its structural similarities to the classical mutations, a 52-bp deletion (type 1 mutation) and a 5-bp insertion (type 2 mutation), using a statistical approximation algorithm (AGADIR). Read More

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Impact of Integrated Genetic Information on Diagnosis and Prognostication for Myeloproliferative Neoplasms in the Next-Generation Sequencing Era.

J Clin Med 2021 Mar 3;10(5). Epub 2021 Mar 3.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.

Since next-generation sequencing has been widely used in clinical laboratories, the diagnosis and risk stratification of hematologic malignancies are greatly dependent on genetic aberrations. In this study, we analyzed the genomic landscapes of 200 patients with myeloproliferative neoplasms (MPNs) and evaluated the impact of the genomic landscape on diagnosis and risk stratification. Mutations in , and were detected in 76. Read More

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What factors determine the pregnancy outcome in patients with essential thrombocythemia?

J Matern Fetal Neonatal Med 2021 Apr 1:1-5. Epub 2021 Apr 1.

Department and Clinic of Angiology, Hypertension, and Diabetology, Wroclaw Medical University, Wrocław, Poland.

Treatment of essential thrombocythemia (ET) is particularly challenging in pregnancy due to the increased risk of thromboembolic complications. Therefore, the use of antithrombotic regimens are recommended in pregnant women with ET. The study included 52 pregnancies in 27 patients diagnosed with ET, who were treated in Department of Haematology. Read More

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Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.

Front Oncol 2021 12;11:637116. Epub 2021 Mar 12.

Hematology Division, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Lack of demonstrable mutations affecting , or driver genes within the spectrum of -negative myeloproliferative neoplasms (MPNs) is currently referred to as a triple-negative genotype, which is found in about 10% of patients with essential thrombocythemia (ET) and 5-10% of those with primary myelofibrosis (PMF). Very few papers are presently available on triple-negative ET, which is basically described as an indolent disease, differently from triple-negative PMF, which is an aggressive myeloid neoplasm, with a significantly higher risk of leukemic evolution. The aim of the present study was to evaluate the bone marrow morphology and the clinical-laboratory parameters of triple-negative ET patients, as well as to determine their molecular profile using next-generation sequencing (NGS) to identify any potential clonal biomarkers. Read More

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Mutation profile in BCR-ABL1-negative myeloproliferative neoplasms: A single-center experience from India.

Hematol Oncol Stem Cell Ther 2021 Mar 19. Epub 2021 Mar 19.

Department of Haematology, Christian Medical College, Vellore, India.

Objective/background: Recurrent somatic mutations in the JAK2, calreticulin (CALR), and the MPL genes are described as drivers of BCR-ABL1-negative myeloproliferative neoplasms (MPN) that includes polycythemia vera (PV), essential thrombocytosis (ET), primary myelofibrosis (PMF), and MPN unclassified (MPN-U).

Methods: We describe the mutation profile and clinical features of MPN cases diagnosed at a tertiary care center. JAK2V617F and MPL (S505/W515) mutations were screened by allele-specific polymerase chain reaction, while CALR exon 9 and JAK2 exon 12 mutations were screened by fragment analysis/Sanger sequencing. Read More

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Myeloproliferative neoplasm-driving Calr frameshift promotes the development of pulmonary hypertension in mice.

J Hematol Oncol 2021 Mar 30;14(1):52. Epub 2021 Mar 30.

Department of Blood Transfusion and Transplantation Immunology, School of Medicine, Fukushima Medical University, 1 Hikarigaoka, Fukushima, 960-1295, Japan.

Frameshifts in the Calreticulin (CALR) exon 9 provide a recurrent driver mutation of essential thrombocythemia (ET) and primary myelofibrosis among myeloproliferative neoplasms (MPNs). Here, we generated knock-in mice with murine Calr exon 9 mimicking the human CALR mutations, using the CRISPR-Cas9 method. Knock-in mice with del10 [Calr mice] exhibited an ET phenotype with increases of peripheral blood (PB) platelets and leukocytes, and accumulation of megakaryocytes in bone marrow (BM), while those with ins2 (Calr mice) showed a slight splenic enlargement. Read More

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Isolated Nodal TBC Reactivation in a Patient with Post-Thrombocythemia Myelofibrosis Treated with Ruxolitinib: Case Report and Review of the Literature.

Chemotherapy 2021 Mar 30:1-5. Epub 2021 Mar 30.

Hematology Unit, Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), University of Palermo, Palermo, Italy.

Ruxolitinib side effects include the most frequent hematological toxicity along with a more recently evidenced immunosuppressive activity, interfering both with the innate and adaptive immunity, and several cases of reactivation of latent infections by opportunistic agents in patients in treatment with ruxolitinib have been published in the last years. Several pathophysiological mechanisms may explain an association between ruxolitinib and opportunistic infections. From what we know, the only case of an isolated lymph node TBC reactivation in a ruxolitinib-treated myelofibrosis (MF) patient was reported by Patil et al. Read More

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The Thrombopoietin Receptor, MPL, Is a Therapeutic Target of Opportunity in the MPN.

Front Oncol 2021 10;11:641613. Epub 2021 Mar 10.

Hematology Division, Department of Medicine, Johns Hopkins University School of Medicine Baltimore, Baltimore, MD, United States.

The myeloproliferative neoplasms, polycythemia vera, essential thrombocytosis and primary myelofibrosis share driver mutations that either activate the thrombopoietin receptor, MPL, or indirectly activate it through mutations in the gene for JAK2, its cognate tyrosine kinase. Paradoxically, although the myeloproliferative neoplasms are classified as neoplasms because they are clonal hematopoietic stem cell disorders, the mutations affecting MPL or JAK2 are gain-of-function, resulting in increased production of normal erythrocytes, myeloid cells and platelets. Constitutive JAK2 activation provides the basis for the shared clinical features of the myeloproliferative neoplasms. Read More

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