5,458 results match your criteria Thrombocytosis Essential


Oral squamous cell carcinoma with essential thrombocythemia and positive JAK2 (V617F) mutation.

J Taibah Univ Med Sci 2022 Apr 15;17(2):326-331. Epub 2021 Nov 15.

Department of Oral Medicine, Faculty of Dental Medicine, Universitas Airlangga, Indonesia.

Essential thrombocythemia is a condition caused by a high platelet count and a positive JAK2 (V617F) mutation. There is an increasing occurrence of malignancy, such as oral squamous cell carcinoma (OSCC), in patients with essential thrombocythemia. The objective of this case report is to document the novel instance of a patient with OSCC after being diagnosed with essential thrombocythemia and a positive JAK2 (V617F) mutation. Read More

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Different Shapes Of Megakaryocytes In Essential Thrombocythemia.

J Ayub Med Coll Abbottabad 2022 Apr-Jun;34(2):389-391

Australian National University, Australia.

Essential thrombocytopenia is the myeloproliferative neoplasm associated with the JAK2/CALR/MPL mutation. It is characterized by an increase in thrombocytes and abnormal megakaryocytes. WHO established the diagnostic criteria for diagnosing the myeloproliferative disorder, which is the combination of molecular, clinical, and histological findings. Read More

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Pacritinib: First Approval.

Authors:
Yvette N Lamb

Drugs 2022 May 14. Epub 2022 May 14.

Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Pacritinib (VONJO™) is an orally administered, small molecule kinase inhibitor being developed by CTI BioPharma for the treatment of myelofibrosis and graft-versus-host disease. Pacritinib received its first approval in February 2022 in the USA for the treatment of adults with intermediate- or high-risk primary or secondary (post-polycythemia vera or post-essential thrombocythemia) myelofibrosis with a platelet count below 50 × 10/L. The accelerated approval was based on results from the randomized, active-controlled, phase III PERSIST-2 trial, in which spleen volume reduction was demonstrated in pacritinib recipients. Read More

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Impact of Individual Comorbidities on Survival of Patients with Myelofibrosis.

Cancers (Basel) 2022 May 9;14(9). Epub 2022 May 9.

Hematology Department, Hospital Universitario Virgen de la Victoria, 29010 Málaga, Spain.

The comorbidity burden is an important risk factor for overall survival (OS) in several hematological malignancies. This observational prospective study was conducted to evaluate the impact of individual comorbidities on survival in a multicenter series of 668 patients with primary myelofibrosis (PMF) or MF secondary to polycythemia vera (PPV-MF) or essential thrombocythemia (PET-MF). Hypertension (hazard ratio (HR) = 4. Read More

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RAPID LOW-COST DETECTION OF TYPE 2CALR MUTATION BY ALLELE-SPECIFIC RT-PCR FOR DIAGNOSIS OF MYELOPROLIFERATIVE NEOPLASMS.

Exp Oncol 2022 05;44(1):83-86

Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, Kyiv 03143, Ukraine.

Background: Approximately 15% to 24% of essential thrombocythemia (ET) and 25-35% of primary myelofibrosis cases carry a mutation in the calreticulin (CALR) gene. Sanger sequencing, qPCR, high resolution melt or targeted next generation sequencing usually used to detect these mutations are expensive and require costly equipment. Nevertheless, type 1 CALR mutations are detectable by using polymerase chain reaction (PCR) and agarose gel electrophoresis. Read More

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Case Report: Interferon-Alpha-Induced Neuromyelitis Optica Spectrum Disorder.

Front Neurol 2022 25;13:872684. Epub 2022 Apr 25.

Department of Neurology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.

Background And Objectives: To describe a new case of neuromyelitis optica spectrum disorder (NMOSD) induced by the administration of interferon-alpha (IFNα) and to raise awareness of this rare drug-induced disease of IFNα treatment.

Methods: A single case study and comprehensive literature review of eight cases.

Results: A 24-year-old man was diagnosed with cerebral venous thrombosis and essential thrombocythemia. Read More

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Hemorrhages in polycythemia vera and essential thrombocythemia: epidemiology, description, and risk factors, learnings from a large cohort.

Thromb Haemost 2022 May 11. Epub 2022 May 11.

Institut de Cancérologie et d'Hématologie, CHU de Brest, Brest, France.

Background: The management of myeloproliferative neoplasms (MPN) is based on the reduction of thrombosis risk. The incidence, impact, and risk factors of bleedings have been less studied.

Method: All patients with polycythemia vera (n=339) or essential thrombocythemia (n=528) treated in our center are included in OBENE cohort (NCT02897297). Read More

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Splenic Infarction in Patients with Philadelphia-negative Myeloproliferative Neoplasms.

Intern Med 2022 May 7. Epub 2022 May 7.

Division of Hematology/Oncology, Department of Internal Medicine, Chungnam National University College of Medicine, Korea.

Objective We retrospectively analyzed the prevalence and clinical features of splenic infarctions in patients with Philadelphia chromosome-negative myeloproliferative neoplasms (Ph MPNs). Patients Patients diagnosed with essential thrombocythemia (ET), polycythemia vera (PV), prefibrotic/early primary myelofibrosis (pre-PMF), or PMF from January 1996 to October 2020 in Chungnam National University Hospital, Daejeon, Korea, were reviewed. Results A total of 347 patients (143 ET, 129 PV, 44 pre-PMF, and 31 PMF patients; 201 men and 146 women) with a median age of 64 (range 15-91) years old were followed up for a median of 4. Read More

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Essential thrombocythemia with CALR mutation and recurrent stroke: two case reports and literature review.

Ther Adv Neurol Disord 2022 26;15:17562864221092093. Epub 2022 Apr 26.

Department of Neurology, Xijing Hospital, Air Force Medical University, 127 Changle West Road, Xi'an 710032, Shaanxi Province, China.

Cerebrovascular events, especially ischemic stroke, are common complications of essential thrombocythemia (ET). Compared to JAK2V617 F mutation, CALR mutation is considered as a lower risk factor of thrombosis in ET. Until now stroke in ET with CALR mutation has rarely been reported. Read More

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Hematological abnormalities among adults with type 1 diabetes mellitus at the University of Gondar Comprehensive Specialized Hospital.

SAGE Open Med 2022 24;10:20503121221094212. Epub 2022 Apr 24.

Department of Hematology and Immunohematology, School of Biomedical and Laboratory Sciences, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia.

Objective: Changes in the blood cell function, metabolism, and the coagulation system were associated with diabetes mellitus. This study aimed to determine the magnitude and associated factors of hematological abnormalities in adults with type 1 diabetes mellitus.

Methods: A total of 204 medical charts of adults with type 1 diabetes mellitus who registered for follow-up at the University of Gondar Comprehensive Specialized Hospital were reviewed from June to August 2021. Read More

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[Idiopathic esophageal submucosal hematoma during antithrombotic therapy for essential thrombocythemia].

Rinsho Ketsueki 2022 ;63(4):265-270

Division of Gastroenterology and Hepatology, Department of Internal Medicine, Toho University, Ohashi Medical Center.

A 73-year-old woman was hospitalized with sudden chest pain and hematemesis. Chest computed tomography and upper gastrointestinal endoscopy revealed an idiopathic submucosal hematoma from the cervical esophagus to the esophagogastric mucosal junction. Idiopathic esophageal submucosal hematoma is often prone to a bleeding tendency of an underlying disorder. Read More

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Familial Essential Thrombocythemia With Novel MPL L502G and G208K Mutations.

Cureus 2022 Mar 16;14(3):e23220. Epub 2022 Mar 16.

Hematology and Oncology, Brooke Army Medical Center, San Antonio, USA.

Familial essential thrombocythemia is characterized by the inheritance of germline mutations to progeny, thereby increasing the risk for the development of essential thrombocythemia. Here, we present two cases of young women who developed thromboembolic phenomena, one of whom with an ischemic event despite adequate anticoagulation. Through extended mutational testing, both were characterized as having novel mutations in the myeloproliferative leukemia virus (MPL) gene, and both individuals have fathers being treated for essential thrombocythemia. Read More

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Comparison of Clinical and Hematological Parameters of Janus Kinase 2, Calreticulin or Myeloproliferative Leukemia Virus Oncogene Mutant Essential Thrombocythemia and Triple-Negative Essential Thrombocythemia.

Cureus 2022 Mar 15;14(3):e23171. Epub 2022 Mar 15.

Department of Hematology, Ankara Training and Research Hospital, Ankara, TUR.

Introduction Essential thrombocythemia (ET) is one of the chronic myeloproliferative neoplasms. While Janus kinase 2 (JAK2) V617F mutation is defined in more than half of the patients with ET, calreticulin (CALR) or myeloproliferative leukemia virus oncogene (MPL) mutations are encountered more rarely. The discovery of the JAK2 V617F mutation in 2005, followed by the recognition of MPL and CALR mutations, brought up the idea of subdividing ET according to the mutation status. Read More

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Clinical Application for Diagnosis of Myelodysplatic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis.

Clin Lab 2022 Apr;68(4)

Background: Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/ MPN-RS-T) was newly introduced as a full entity in the 2016 revision of the WHO classification. In this study, we investigated the morphologic, laboratory, and clinical features of MDS/MPN-RS-T.

Methods: We reviewed the bone marrow and genetic studies of patients whose diagnoses were coded as "refractory anemia with ring sideroblasts (RARS)" or "MDS/MPN, unclassifiable" between January 2008 and April 2018. Read More

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Complete Thrombotic Occlusion of the Abdominal Aorta.

Intern Med 2022 Apr 16. Epub 2022 Apr 16.

Department of Internal medicine, Saiseikai Kyoto Hospital, Japan.

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Patient with clinical celiac disease mimicking triple-negative essential thrombocythemia.

Clin Case Rep 2022 Apr 7;10(4):e05197. Epub 2022 Apr 7.

Department of Hematology and Oncology Hamad Medical Corporation Doha Qatar.

Platelets are acute-phase reactants, which can be elevated due to a secondary cause or less commonly because of a primary mechanism. Primary disorders include hematological conditions such as myelodysplastic syndrome, acute myeloid leukemia, chronic myeloid leukemia, polycythemia vera, and essential thrombocythemia (ET). Most ET patients have a mutation in the genes regulating thrombopoiesis, , , or genes. Read More

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Facial demodicosis in the immunosuppressed state: a retrospective case series from a tertiary referral center.

Int J Dermatol 2022 Apr 10. Epub 2022 Apr 10.

Division of Dermatology, Rabin Medical Center - Beilinson Hospital, Petach Tikva, Israel.

Background: Data on Demodex in the immunosuppressed state is limited, focusing mainly on patients with human immunodeficiency virus and hematological malignancies. The aim of this study was to describe the manifestations of facial demodicosis in diverse immunosuppressive states.

Methods: The medical records of all patients followed at a Demodex outpatient clinic of a tertiary medical center from January 2008 to November 2020 were retrospectively reviewed. Read More

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Philadelphia chromosome-negative myeloproliferative neoplasms: clinical aspects and treatment options.

Authors:
Akihiko Gotoh

Int J Hematol 2022 May 10;115(5):616-618. Epub 2022 Apr 10.

Department of Hematology, Tokyo Medical University, 6-7-1, Nishishinjuku, Shinjuku-ku, Tokyo, 160-0023, Japan.

Clinical studies of Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) have progressed greatly with the discovery of mutations in three driver genes: JAK2, MPL, and calreticulin. Other genes that may play important roles in pathogenesis and progression of MPN have also been identified. Several prognostic prediction systems based on various risk factors including these genetic factors have been developed and utilized in clinical practice. Read More

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t(10;12)(q24;q15): A new cytogenetic marker in hematological malignancies.

Cancer Genet 2022 Mar 26;264-265:60-65. Epub 2022 Mar 26.

UDMGC, Oncohematological Cytogenetics Department, Hospital Universitari Son Espases, Palma, Balearic Islands, Spain; UDMGC, Clinical Genetics Department, Hospital Universitari Son Espases, Palma. Balearic Islands, Spain.

Cytogenetic studies have played a crucial role in the discovery of genes involved in several diseases. In the field of oncohematology, cytogenetics is still necessary for the classification and prognosis of many diseases. Here we report a new recurrent chromosome translocation, t(10;12)(q24;q15), in two patients with different hematological malignancies: myelodysplastic syndrome with excess blasts (MDS-EB), and myelofibrosis (MF) secondary to essential thrombocythemia (ET). Read More

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[Analysis of DNA Methylation Gene Mutations and Clinical Features in Patients with Myeloproliferative Neoplasm].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Apr;30(2):522-528

Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing

AbstractObjective: To analyze the DNA methylation gene mutations of myeloproliferative neoplasm (MPN), and preliminarily explore its clinical features.

Methods: Next-generation sequencing technology was used to detect 31 MPN-related genes in 105 cases of MPN patients [40 cases of polycythaemia vera (PV), 65 cases of essential thrombocythemia (ET)], and to analyze the relationship between DNA methylation gene mutations and clinical features.

Results: 15 mutation types were detected in 105 patients (88 mutations in total), and the total mutation detection rate was 87. Read More

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Treatment options and pregnancy management for patients with PV and ET.

Authors:
Yoko Edahiro

Int J Hematol 2022 May 8;115(5):659-671. Epub 2022 Apr 8.

Department of Hematology, Juntendo University School of Medicine, 2-1-1 Hongou, Bunkyoku, Tokyo, 113-8421, Japan.

Polycythemia vera (PV) and essential thrombocythemia (ET) are the two most common subtypes of Philadelphia chromosome-negative myeloproliferative neoplasm (MPN). PV results in erythrocytosis and ET in thrombocytosis. The discovery of JAK2 mutations in the majority of patients with MPN over the last 2 decades has led to the development of JAK inhibitors. Read More

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Essential thrombocythemia and aortic dissection,causal or incidental association?

J Med Vasc 2022 Feb 11;47(1):39-42. Epub 2022 Feb 11.

Cardiology Center of Mohammed V Military Training Hospital, Rabat, Morocco.

Only few cases of vascular dissection and essential thrombocythemia association have been reported. To the best of our knowledge, we reported the second case of aortic dissection and essential thrombocythemia association in a 60-year-old man with positive JAK2V617F mutation who had no history of hypertension or connective tissue disorders. Through this case, we discussed the eventual existence of a causal relationship between the two conditions. Read More

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February 2022

Cerebral venous sinus thrombosis as the initial presentation of essential thrombocythemia - A case report and literature review.

eNeurologicalSci 2022 Jun 31;27:100398. Epub 2022 Mar 31.

Department of Internal Medicine, Hamad General Hospital, Hamad Medical Corporation, Doha, Qatar.

Myeloproliferative disorders (MPD) are associated with vascular thrombosis. Common sites for thrombosis are large arteries; however, less commonly, cerebral venous sinus thrombosis (CVST) has also been reported. It is rare to have CVST as an initial presentation of MPD. Read More

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Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Adv 2022 Apr 5. Epub 2022 Apr 5.

Stony Brook University, Stony Brook, New York, United States.

Inflammatory stimuli have divergent effects on peripheral platelet counts, although the mechanisms of thrombocytopenic and thrombocytotic responses remain poorly understood. A candidate gene approach targeting 326 polymorphic genes enriched in thrombopoietic and cytokine signaling pathways was applied to identify single nucleotide variants (SNVs) implicated in enhanced platelet responses in cohorts with reactive (RT) or essential (myeloproliferative neoplasm [MPN]) thrombocytosis (ET). Cytokine profiles incorporating a 15-member subset, pathway topology, and functional interactive networks were distinct between ET and RT, consistent with distinct regulatory pathways of exaggerated thrombopoiesis. Read More

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An inherited gain-of-function risk allele in EPOR predisposes to familial JAK2 myeloproliferative neoplasms.

Br J Haematol 2022 Mar 30. Epub 2022 Mar 30.

INSERM, UMR1287, Villejuif, France.

Myeloproliferative neoplasms (MPN) are mainly sporadic but inherited variants have been associated with higher risk development. Here, we identified an EPOR variant (EPOR ) in a large family diagnosed with JAK2 -positive polycythaemia vera (PV) or essential thrombocytosis (ET). We investigated its functional impact on JAK2 clonal amplification in patients and found that the variant allele fraction (VAF) was low in PV progenitors but increase strongly in mature cells. Read More

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Increased cleavage of von Willebrand factor by ADAMTS13 may contribute strongly to acquired von Willebrand syndrome development in patients with essential thrombocythemia.

J Thromb Haemost 2022 Mar 30. Epub 2022 Mar 30.

Department of Blood Transfusion Medicine, Nara Medical University, Kashihara, Japan.

Background: Patients with essential thrombocythemia (ET) often experience bleeding associated with acquired von Willebrand syndrome (AVWS) when the platelet count is markedly increased.

Objective: We investigated whether von Willebrand factor (VWF) degradation is enhanced in patients with ET.

Methods: Seventy patients with ET underwent VWF multimer (VWFM) analysis and measurement of VWF-related parameters. Read More

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Role of JAK inhibitors in myeloproliferative neoplasms: current point of view and perspectives.

Int J Hematol 2022 May 29;115(5):626-644. Epub 2022 Mar 29.

Department of Experimental and Clinical Medicine, University of Florence, CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Azienda Ospedaliero-Universitaria Careggi, Largo Brambilla, 3 pad 27B, 50134, Florence, Italy.

Classic Philadelphia-negative myeloproliferative neoplasms (MPN) include polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF), classified as primary (PMF), or secondary to PV or ET. All MPN, regardless of the underlying driver mutation in JAK2/CALR/MPL, are invariably associated with dysregulation of JAK/STAT pathway. The discovery of JAK2V617F point mutation prompted the development of small molecules inhibitors of JAK tyrosine kinases (JAK inhibitors-JAKi). Read More

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