scholarly journals Thrombosis in patients with myeloproliferative neoplasms. Case report

2021 ◽  
Vol 93 (7) ◽  
pp. 800-804
Author(s):  
Anait L. Melikyan ◽  
Irina N. Subortseva ◽  
Elena A. Gilyazitdinova ◽  
Tamara I. Koloshejnova ◽  
Kristina S. Shashkina ◽  
...  
Keyword(s):  
Case Report ◽  
Arterial Hypertension ◽  
Clinical Case ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Hemoglobin Level ◽  
History Of ◽  
Thrombotic Complications ◽  
Acquired Thrombophilia ◽  
Significant Factors

Thrombotic complications are the most significant factors determining the prognosis in myeloproliferative neoplasms. Markers for assessing the risk of thrombosis are the number of leukocytes, platelets, hemoglobin level, hematocrit, age, molecular status, history of thrombosis, obesity, arterial hypertension, hyperlipidemia, hereditary or acquired thrombophilia. The pathogenesis of thrombosis in patients with myeloproliferative neoplasms is complex and multifactorial. In most cases, the etiological factor remains unknown. Currently, antiplatelet and anticoagulant therapy is carried out on an individual basis. The algorithm for primary and secondary (after thrombosis) prevention requires development and testing. We present a clinical case of repeated arterial and venous thrombotic complications in a patient with primary myelofibrosis.

Endothelial progenitor cells are clonal and exhibit the JAK2V617F mutation in a subset of thrombotic patients with Ph-negative myeloproliferative neoplasms

Blood ◽  
2011 ◽  
Vol 117 (9) ◽  
pp. 2700-2707 ◽  
Author(s):  
Luciana Teofili ◽  
Maurizio Martini ◽  
Maria Grazia Iachininoto ◽  
Sara Capodimonti ◽  
Eugenia Rosa Nuzzolo ◽  
...  
Keyword(s):  
Mononuclear Cells ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
Signal Transducer ◽  
Cell Compartment ◽  
Molecular Abnormalities ◽  
Endothelial Colony Forming Cells ◽  
Molecular Abnormality ◽  
Thrombotic Complications ◽  
Human Androgen Receptor

Abstract In this study we investigated whether neoplastic transformation occurring in Philadelphia (Ph)–negative myeloproliferative neoplasms (MPNs) could involve also the endothelial cell compartment. We evaluated the level of endothelial colony-forming cells (E-CFCs) in 42 patients (15 with polycythemia vera, 12 with essential thrombocythemia, and 15 with primary myelofibrosis). All patients had 1 molecular abnormality (JAK2V617F or MPLW515K mutations, SOCS gene hypermethylation, clonal pattern of growth) detectable in their granulocytes. The growth of colonies was obtained in 22 patients and, among them, patients with primary myelofibrosis exhibited the highest level of E-CFCs. We found that E-CFCs exhibited no molecular abnormalities in12 patients, had SOCS gene hypermethylation, were polyclonal at human androgen receptor analysis in 5 patients, and resulted in JAK2V617F mutated and clonal in 5 additional patients, all experiencing thrombotic complications. On the whole, patients with altered E-CFCs required antiproliferative therapy more frequently than patients with normal E-CFCs. Moreover JAK2V617F-positive E-CFCs showed signal transducer and activator of transcription 5 and 3 phosphorylation rates higher than E-CFCs isolated from healthy persons and patients with MPN without molecular abnormalities. Finally, JAK2V617F-positive E-CFCs exhibited a high proficiency to adhere to normal mononuclear cells. This study highlights a novel mechanism underlying the thrombophilia observed in MPN.

scholarly journals Aetiology of Myeloproliferative Neoplasms

Cancers ◽  
2020 ◽  
Vol 12 (7) ◽  
pp. 1810
Author(s):  
Mary Frances McMullin ◽  
Lesley Ann Anderson
Keyword(s):  
Blood Donation ◽  
Myeloproliferative Neoplasms ◽  
Myeloproliferative Neoplasm ◽  
Occupational Exposures ◽  
Population Level ◽  
Primary Myelofibrosis ◽  
Epidemiological Studies ◽  
Incidence Rates ◽  
Autoimmune Conditions ◽  
History Of

Myeloproliferative neoplasms (MPNs) have estimated annual incidence rates for polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis of 0.84, 1.03, and 0.47 per 100,000. Prevalence is much higher, particularly for PV and ET, as mortality rates are relatively low. Patients are often concerned about why they developed an MPN and epidemiological studies enable the identification of potential causative factors. Previous work in small heterogeneous studies has identified a variety of risk factors associated with MPNs including family history of MPN, autoimmune conditions, some occupational exposures, and blood donation. At a population level, germline predisposition factors in various populations have been associated with MPNs. The pilot MOSAICC (Myeloproliferative Neoplasm: An In-depth Case-Control) study is one of the largest epidemiological studies in MPN ever carried out to date. It demonstrated the most effective methods for carrying out a significant epidemiological study in this patient group including the best way of recruiting controls, as well as how to evaluate occupational and lifestyle exposures, evaluate symptoms, and collect biological samples. Significant results linked to MPNs in the pilot study of 106 patients included smoking, obesity, and childhood socioeconomic status. The methodology is now in place for a much larger ongoing MOSAICC study which should provide further insight into the potential causes of MPNs.

scholarly journals Philadelphia-Negative Classical Myeloproliferative Neoplasms: Critical Concepts and Management Recommendations From European LeukemiaNet

2011 ◽  
Vol 29 (6) ◽  
pp. 761-770 ◽  
Author(s):  
Tiziano Barbui ◽  
Giovanni Barosi ◽  
Gunnar Birgegard ◽  
Francisco Cervantes ◽  
Guido Finazzi ◽  
...  
Keyword(s):  
High Risk ◽  
Myeloproliferative Neoplasms ◽  
Primary Myelofibrosis ◽  
International Prognostic Scoring System ◽  
High Risk Patients ◽  
Thrombosis Risk ◽  
Risk Patients ◽  
History Of ◽  
Management Recommendations ◽  
Monitoring Response

We present a review of critical concepts and produce recommendations on the management of Philadelphia-negative classical myeloproliferative neoplasms, including monitoring, response definition, first- and second-line therapy, and therapy for special issues. Key questions were selected according the criterion of clinical relevance. Statements were produced using a Delphi process, and two consensus conferences involving a panel of 21 experts appointed by the European LeukemiaNet (ELN) were convened. Patients with polycythemia vera (PV) and essential thrombocythemia (ET) should be defined as high risk if age is greater than 60 years or there is a history of previous thrombosis. Risk stratification in primary myelofibrosis (PMF) should start with the International Prognostic Scoring System (IPSS) for newly diagnosed patients and dynamic IPSS for patients being seen during their disease course, with the addition of cytogenetics evaluation and transfusion status. High-risk patients with PV should be managed with phlebotomy, low-dose aspirin, and cytoreduction, with either hydroxyurea or interferon at any age. High-risk patients with ET should be managed with cytoreduction, using hydroxyurea at any age. Monitoring response in PV and ET should use the ELN clinicohematologic criteria. Corticosteroids, androgens, erythropoiesis-stimulating agents, and immunomodulators are recommended to treat anemia of PMF, whereas hydroxyurea is the first-line treatment of PMF-associated splenomegaly. Indications for splenectomy include symptomatic portal hypertension, drug-refractory painful splenomegaly, and frequent RBC transfusions. The risk of allogeneic stem-cell transplantation–related complications is justified in transplantation-eligible patients whose median survival time is expected to be less than 5 years.

scholarly journals Occult insulinoma after oesophagectomy for oesophageal cancer-diagnostic challenges

2021 ◽  
Vol 9 (1) ◽  
pp. 185
Author(s):  
Marta Alexandre Silva ◽  
Maria João Amaral ◽  
Pedro Pinto ◽  
Mónica Martins ◽  
Marco Serôdio ◽  
...  
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Clinical Case ◽  
Gastrointestinal Surgery ◽  
Gastric Surgery ◽  
Diagnostic Investigation ◽  
Post Operative Period ◽  
History Of ◽  
Oesophageal Surgery ◽  
Hyperinsulinemic Hypoglycaemia

Hypoglycaemia in the post-operative period is mainly iatrogenic (related to anti-hyperglycaemic drugs), but can be explained by an endogenous hyperinsulinemic state. In the context of previous gastrointestinal surgery, a form of dumping syndrome can mask hypoglycaemia from an underlying cause, such as an insulinoma. The authors present a clinical case of a male patient who underwent oesophageal surgery for an oesophago-gastric junction adenocarcinoma and developed hypoglycaemic symptoms in the post-operative period, caused by an undiagnosed insulinoma. This case report portraits the diagnostic investigation of a hypoglycaemia state in the post-operative period, narrowing to the workup of an endogenous hyperinsulinemic hypoglycaemia and provides a summary of insulinoma’s treatment. An insulinoma should always be considered in a patient with endogenous hyperinsulinemic hypoglycaemia, even with a history of oesophago-gastric surgery.

scholarly journals The clinical case of successful combined treatment of refractory arterial hypertension. Case report

2021 ◽  
Vol 93 (9) ◽  
pp. 1086-1090
Author(s):  
Tatiana D. Solntseva ◽  
Anastasiia R. Denisova ◽  
Olga A. Sivakova ◽  
Nikolai M. Danilov ◽  
Dmitrii V. Pevzner ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Case Report ◽  
Arterial Hypertension ◽  
Antihypertensive Therapy ◽  
Renal Denervation ◽  
Clinical Case ◽  
Combined Treatment ◽  
Cardiovascular Complications ◽  
Refractory Hypertension ◽  
Clinical Variant

In recent years, there has been an increase of patients with arterial hypertension, one of the variants of which is refractory arterial hypertension. This unfavorable clinical variant of the course of hypertension worries clinicians, due to the higher risk of developing cardiovascular complications, realizing the need for a better control of blood pressure. The presented clinical case demonstrates the successful combined treatment of refractory hypertension using antihypertensive therapy and renal denervation.

scholarly journals Advanced forms of MPNs are accompanied by chromosomal abnormalities that lead to dysregulation of TP53

2018 ◽  
Vol 2 (24) ◽  
pp. 3581-3589 ◽  
Author(s):  
Bridget K. Marcellino ◽  
Ronald Hoffman ◽  
Joseph Tripodi ◽  
Min Lu ◽  
Heidi Kosiorek ◽  
...  
Keyword(s):  
Disease Progression ◽  
Chromosomal Abnormalities ◽  
Myeloproliferative Neoplasms ◽  
Philadelphia Chromosome ◽  
Primary Myelofibrosis ◽  
Chromosome 17 ◽  
Transcript Levels ◽  
History Of ◽  
Tumor Protein P53

Abstract The Philadelphia chromosome–negative myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and the prefibrotic form of primary myelofibrosis (PMF), frequently progress to more overt forms of MF and a type of acute leukemia termed MPN-accelerated phase/blast phase (MPN-AP/BP). Recent evidence indicates that dysregulation of the tumor suppressor tumor protein p53 (TP53) commonly occurs in the MPNs. The proteins MDM2 and MDM4 alter the cellular levels of TP53. We investigated in 1,294 patients whether abnormalities involving chromosomes 1 and 12, which harbor the genes for MDM4 and MDM2, respectively, and chromosome 17, where the gene for TP53 is located, are associated with MPN disease progression. Gain of 1q occurred not only in individuals with MPN-BP but also in patients with PV and ET, who, with further follow-up, eventually evolve to either MF and/or MPN-BP. These gains of 1q were most prevalent in patients with a history of PV and those who possessed the JAK2V617F driver mutation. The gains of 1q were accompanied by increased transcript levels of MDM4. In contrast, 12q chromosomal abnormalities were exclusively detected in patients who presented with MF or MPN-BP, but were not accompanied by further increases in MDM2/MDM4 transcript levels. Furthermore, all patients with a loss of 17p13, which leads to a deletion of TP53, had either MF or MPN-AP/BP. These findings suggest that gain of 1q, as well as deletions of 17p, are associated with perturbations of the TP53 pathway, which contribute to MPN disease progression.

Development of lymphangioleiomyomatosis in a female patient with Sjö gren's disease: a review of literature and a case report

2019 ◽  
Vol 13 (2) ◽  
pp. 119-123
Author(s):  
Yu. I. Khvan ◽  
S. G. Palshina ◽  
V. I. Vasiliev
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Clinical Case ◽  
Young Female ◽  
Renal Angiomyolipoma ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
History Of ◽  
Genetically Determined ◽  
Sjögren’S Disease

Cystic and bullous lung transformation occurs in diseases of various origins: neoplastic, genetically determined, rheumatic, lymphoproliferative, and infectious diseases. The paper presents a review of the literature and a clinical case of a young female patient with a long history of Sjögren's disease. Fifteen years after the onset of the disease, the patient developed cystic and bullous lung transformation and renal angiomyolipoma, which are regarded as a manifestation of probable lymphangioleiomyomatosis.

scholarly journals Incidence, characteristics and risk factors of thromboembolic events in East Asian patients with BCR-ABL1 negative myeloproliferative neoplasms

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jinyong Kim ◽  
Ja Min Byun ◽  
Junshik Hong ◽  
Youngil Koh ◽  
Dong-Yeop Shin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Myeloproliferative Neoplasms ◽  
Significant Risk ◽  
Vascular Complications ◽  
Hemoglobin Concentration ◽  
Significant Risk Factor ◽  
Primary Myelofibrosis ◽  
Thromboembolic Events ◽  
Asian Patients ◽  
History Of

AbstractThe vascular complications have been a major cause of morbidity and mortality among all subtypes of BCR-ABL1 negative myeloproliferative neoplasms (MPN), but the ethnicity-specific data was limited. We therefore conducted a multi-center retrospective, longitudinal cohort study to evaluate the incidence, characteristics and risk factors of thromboembolic events of MPN patients. Of 256 patients, 27.3% experienced thromboembolic events, majority of which occurred before or within 12 months of MPN diagnosis. The multivariable Cox proportional analyses identified leukocytosis (HR 2.67, 95% CI 1.36–5.24, q = 0.004) and history of thrombosis (HR 9.68, 95% CI 2.00–46.88, q = 0.005) as the risk factors for thromboembolism. In subgroup analysis of polycythemia vera and hemoglobin concentration (HR 1.97, 95% CI 1.28–3.04, q = 0.002) appeared to be a significant risk factor of thrombosis, along with age and thrombosis history. In essential thrombocythemia, severity of the established IPSET score was closely correlated with the frequency of thromboembolic events. In primary myelofibrosis, history of thrombosis was associated with thrombosis events (HR 13.85, 95% CI 1.2–159.5, q = 0.035). Overall survival was worse in patients who experienced thromboembolic events. Our study highlighted the importance of recognizing high risk patients and implementing personalized intervention.

scholarly journals Kidney Dysfunction Is Associated with Thrombosis and Disease Severity in Myeloproliferative Neoplasms: Implications from the German Study Group for MPN Bioregistry

Cancers ◽  
2021 ◽  
Vol 13 (16) ◽  
pp. 4086
Author(s):  
Judith Gecht ◽  
Ioannis Tsoukakis ◽  
Kim Kricheldorf ◽  
Frank Stegelmann ◽  
Martine Klausmann ◽  
...  
Keyword(s):  
Risk Factors ◽  
Arterial Hypertension ◽  
Estimated Glomerular Filtration Rate ◽  
Myeloproliferative Neoplasms ◽  
Multiple Logistic Regression Analysis ◽  
Study Group ◽  
Kidney Dysfunction ◽  
German Study ◽  
Increased Risk ◽  
History Of

Inflammation-induced thrombosis represents a severe complication in patients with myeloproliferative neoplasms (MPN) and in those with kidney dysfunction. Overlapping disease-specific attributes suggest common mechanisms involved in MPN pathogenesis, kidney dysfunction, and thrombosis. Data from 1420 patients with essential thrombocythemia (ET, 33.7%), polycythemia vera (PV, 38.5%), and myelofibrosis (MF, 27.9%) were extracted from the bioregistry of the German Study Group for MPN. The total cohort was subdivided according to the calculated estimated glomerular filtration rate (eGFR, (mL/min/1.73 m2)) into eGFR1 (≥90, 21%), eGFR2 (60–89, 56%), and eGFR3 (<60, 22%). A total of 29% of the patients had a history of thrombosis. A higher rate of thrombosis and longer MPN duration was observed in eGFR3 than in eGFR2 and eGFR1. Kidney dysfunction occurred earlier in ET than in PV or MF. Multiple logistic regression analysis identified arterial hypertension, MPN treatment, increased uric acid, and lactate dehydrogenase levels as risk factors for kidney dysfunction in MPN patients. Risk factors for thrombosis included arterial hypertension, non-excessive platelet counts, and antithrombotic therapy. The risk factors for kidney dysfunction and thrombosis varied between MPN subtypes. Physicians should be aware of the increased risk for kidney disease in MPN patients, which warrants closer monitoring and, possibly, early thromboprophylaxis.

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