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1. Evaluation of Electrocardiographic and Echocardiographic Findings In Patients Diagnosed with Polycythemia Vera and Essential Thrombocythemia

Author

Özcan Çeneli, Abdullah İçli, Şerif Ahmet Kandemir, Ali Kürşat Tuna, Mustafa Çağrı Ergün, Ahmet Lütfü Sertdemir, Atakan Tekinalp, Bahattin Engin Kaya, and Sinan Demircioğlu

Subjects
polycythemia vera, essential thrombocythemia, electrocardiography, echocardiography, polisitemia vera, esansiyel trombositemi, elektrokardiyografi, ekokardiyografi, pulse wave velosite, Medicine (General), R5-920
Abstract

Background/Aims: Polycythemia vera (PV) and essential thrombocythemia (ET) are chronic myeloproliferative diseases. Along with the increase in myeloproliferative cell lines, they can cause various clinical outcomes such as arterial and venous thrombosis, pulmonary hypertension, and myocardial infarction. This study was designed to evaluate the cardiac effects of these diseases via electrocardiography and echocardiography. Methods: A total of 50 patients with a diagnosis of PV, 50 patients with a diagnosis of ET, and 50 healthy individuals as a control group were included in this study. Data on patient demographics were recorded in all subjects. All patients and control subjects had electrocardiography (ECG) recordings and routine transthoracic echocardiographic examination. Pulse wave velocity (PWV) was assessed with a Holter blood pressure device. Results: In total, 50 PV patients, 50 ET patients, and 50 control group were included in the study. The demographic characteristics of the PV, ET and control groups were similar. The PR interval was significantly shorter in control subjects than in PV and ET patients (p:0.007, p:0.024). Although the measured values were within normal limits, diastolic posterior wall thickness was significantly lower in the control group compared to PV and ET patients (p:0.019, p:0.009). PWV was significantly higher in ET patients compared to the control group (p:0.012). Conclusion: In this study, evaluating the effects of PV and ET on electrocardiography and transthoracic echocardiography; ECG parameters used to predict ventricular arrhythmias (QT, QTc, Tp-Te, Tp-Te/QT) and Pulmonary Artery Pressure showed no significant change, in opposition to existing literature. Nonetheless, similar to previous publications, PV and ET were found to negatively affect the diastolic function parameters on transthoracic echocardiography. While the aortic stiffness was significantly higher in ET patients compared to the control group, no significant difference was noted between PV patients and control subjects in terms of aortic stiffness.

Published
2024
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2. Optical Coherence Tomography Angiographic Assessment of Polycythaemia Vera-Related Retinal Microvascular Morphological Changes: A Cross-Sectional Case-Control Study.

Author

AKDOĞAN, Müberra, DOĞAN, Mustafa, ELİZADE, Anar, GOBEKA, Hamidu Hamisi, SABANER, Mehmet Cem, and YAVAŞOĞLU, Filiz

Subjects
OPTICAL coherence tomography, RETINA, OPHTHALMOLOGY, EYE diseases, AGE groups
Abstract

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Published
2022
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3. Klinik biyokimya laboratuvarlarında kullanılan panik değerleri kronik myeloproliferatif neoplazilerin tanısında kullanılan ölçütlere göre gözden geçirilmeli midir?

Author

Ardıçoğlu Akışın, Yasemin, Beyan, Cengiz, Ardıçoğlu Akışın, Yasemin, and Beyan, Cengiz

Abstract

Aim: Panic values are laboratory test results that indicate that the patient may be in a life-threatening condition if urgent action is not taken. Each medical laboratory should determine their panic values and also they have to report and document the results. Chronic myeloproliferative neoplasms (MPN), including malign diseases such as polycythemia vera, essential thrombocythemia, primary myelofibrosis and chronic myeloid leukemia, is a malignant and clonal disease of hematopoietic tissue. In 2016, World Health Organization (WHO) updated the criteria of classification for hematopoietic and lymphoid tissue tumors. The aim of this study is to compare the panic value reports of our laboratory with the number of tests that exceed the limit values for chronic MPNs determined according to the new WHO criteria. Material and Methods: In the study, the results of complete blood count of 58223 patients over the age of 15 were evaluated. Hemoglobin, hematocrit, platelet and leukocyte counts were evaluated and compared according to reported the panic values of our laboratory and the WHO criteria for chronic MPN. Results: When the hemoglobin values are evaluated due to currently used panic values instead of WHO criteria, the necessity of bone marrow examination is overlooked and 1.13% of women and 8.90% of men could not be followed in terms of chronic MPN. Also, the hematocrit values of 9.59 % of women and 8.52% men could not be informative. The hemoglobin values in 0.68% of women and in 1.74% of men, hematokrit için kadınlarda %0,94, erkeklerde %0,38’dir. Trombosit sayısı için bu oran %2,20 iken, lökosit sayısı için %24,78’dir. Sonuç: Çalışmamızın sonuçları kronik MPN açısında uyarıcı olabilmesi için panik değerlerin 2016 DSÖ kılavuzundaki kronik MPN kriterlerine göre gözden geçirilerek yeniden düzenlenmesi gerekliliğini doğurmuştur., Amaç: Panik değerler, laboratuvar test sonuçlarının acil müdahale edilemediği takdirde hastanın hayati tehlikesi olabileceğini işaret eden sınır değerlerdir. Her tıbbi laboratuvar panik değerlerini her test ve durum için ilgili klinik ile beraber saptamalıdır ve bildirimlerini zamanında yaparak dokümante etmelidir. Polisitemia vera, esansiyel trombositemi, primer myelofibrozis ve kronik myelositer lösemi gibi malign hastalıkları içeren kronik myeloproliferatif neoplaziler (MPN), hematopoietik dokunun, malign ve klonal bir hastalığıdır. Dünya Sağlık Örgütü (DSÖ) 2016 yılında hematopoetik ve lenfoid doku tümörlerinin sınıflamasında güncelleme yapmıştır. Bu çalışmadaki amaç laboratuvarımızdan yapılmış panik değer bildirimleri ile yeni DSÖ ölçütlerine göre belirlenmiş kronik MPN sınır değerlerinin üzerinde çıkan test sayılarını karşılaştırmaktır. Gereç ve Yöntemler: Çalışmada 15 yaş üzeri 58223 hastaya ait tam kan sayımı sonucu değerlendirmeye alınmıştır. Elde edilen hemoglobin, hematokrit, trombosit ve lökosit sayısı panik değer bildirim sayı veya yüzdeleri laboratuvarımızın panik değerlerine ve kronik MPN için DSÖ kriterlerine göre değerlendirilmiş ve karşılaştırılmıştır. Bulgular: Kemik iliği incelemesi yapılması için uyarıcı olması gereken hemoglobin düzeyleri için mevcut panik değer sınırlarının kullanılması halinde kadınlarda %1,13, erkeklerde %8,90, the hematocrit values in 0.94 % of women and in 0.38% of men could not be taken as a warning for chronic MPN without performing marrow examination. For platelet and leukocyte counts the rates are 2.20% and 24.78%, respectively. Conclusion: In order to provide early information in terms of chronic MPN, panic values should be reviewed and rearranged according criteria in the 2016 WHO guideline., hematokrit düzeyleri için kadınlarda yaklaşık %9,59, erkeklerde %8,52 oranında hasta gözden kaçarak kronik MPN yönünden takibe alınamamaktadır. Kemik iliği incelemesi olmaksızın kronik MPN lehine uyarıcı kabul edilmesi gereken oranlar hemoglobin için kadınlarda %0,68, erkeklerde %1,74

Published
2024

4. Rare Case of Concomitant Polycythemia Vera and Chronic Lymphocytic Leukemia in a Young Male Patient.

Author

Ting Li and Yun Zhang

Subjects
*CHRONIC lymphocytic leukemia diagnosis, *FLOW cytometry, *PATIENT aftercare, *POLYCYTHEMIA vera, *DIARRHEA, *BIOPSY, *GENETIC mutation, *SEQUENCE analysis, *HYDROXYUREA, *FLUORESCENCE in situ hybridization, *PLATELET aggregation inhibitors, *ABDOMINAL pain, *ROUTINE diagnostic tests, *BONE marrow, *CYTOGENETICS, *POLYMERASE chain reaction, *COMORBIDITY, *LEUCOCYTE disorders
Published
2023
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5. POLİSİTEMİA VERA OLGULARINDA JAK2 V617F MUTASYON SIKLIĞI VE LABORATUVAR BULGULARI İLE İLİŞKİSİ.

Author

HEKİMLER ÖZTÜRK, Kuyaş, TEPEBAŞI, Muhammet Yusuf, ÖZBAŞ, Halil, and ASLAN KOŞAR, Pınar

Abstract

Objective Polycythemia vera (PV) is a clonal disease characterized by clonal proliferation of myeloid cells. It has been shown that the Janus tyrosine kinase 2 (JAK2) gene V617F mutation forms the basis of the molecular pathogenesis of the disease. In this study, it was aimed to examine the relationship between JAK2 V617F mutation frequency and hematological parameters in patients with PV. Material and Methods A total of 78 patients, 18 female and 60 male, with PV were included in this retrospective cohort study. Demographic characteristics, laboratory findings and JAK2 V617F mutation analysis results were recorded by examining the outpatient clinic files of the patients. JAK2 V617F mutation analyzes were performed by Real-Time PCR method. Results JAK2 V617F mutation was detected in 21 (26.9%) of 78 PV patients included in the study. There was no difference between the presence of mutation and gender (p>0.05). In the grouping made according to mutation positivity, while age, RBC, RDW and PLT levels were found to be significantly higher in patients with JAK2 V617F mutation (respectively, p=0.000; p=0.030; p=0.028; p=0.029), serum iron level was found to be significantly lower. (p=0.036). WBC, HB and HCT levels were similar in both groups (p>0.05). Conclusion More comprehensive prospective studies are needed to demonstrate the prognostic value of the mutation and its relationship with clinical and laboratory variables. [ABSTRACT FROM AUTHOR]

Published
2021
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6. Radium-223 Treatment in mCRPC Patient with Polycythemia Vera.

Author

de Angelis, Cristina, Frantellizzi, Viviana, Pontico, Mariano, de Feo, Maria Silvia, Lazri, Julia, and de Vincentis, Giuseppe

Subjects
*POLYCYTHEMIA vera, *CASTRATION-resistant prostate cancer, *MEDICAL personnel, *TREATMENT effectiveness, *DRUG utilization
Abstract

There have been several studies on the clinical outcomes of Radium-223 treatment in patients with metastatic castration-resistant prostate cancer (mCRPC) who may have an increased risk of hematologic comorbidities. To the best of our knowledge, this is the first study to explore the potential bone marrow adverse effects (AEs) of Radium-223 administered with specific drugs used for hematologic conditions, such as polycythemia vera (PV). We report the case of a patient with mCRPC who was administered a combined treatment of Radium-223 and hydroxyurea for PV, aiming to support clinicians in predicting eventual AEs. [ABSTRACT FROM AUTHOR]

Published
2021
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7. Relationship between JAK2-V617F mutation and hematologic parameters in Philadelphia-negative chronic myeloproliferative neoplasms.

Author

Aksit, Murat, Bozkaya, Giray, Uzuncan, Nuriye, Bilgili, Sibel, Ozlu, Can, and Zeytinli Aksit, Merve

Subjects
*BLOOD cell count, *LEUCOCYTES, *POLYCYTHEMIA vera, *TUMORS, *MYELOPROLIFERATIVE neoplasms, *PHILADELPHIA chromosome
Abstract

Objectives: We aimed to investigate the prevalence of JAK2-V617F mutation and its association with hematologic parameters in polycythemia vera(PV), essential thrombocytosis(ET) and primary myelofibrosis(PMF) patients who have been tested for the mutation. Methods: We retrospectively reviewed the records of 168 patients (82 males and 86 females) who were tested for JAK2-V617F mutation upon request of Hematology Clinic. JAK2-V617F mutation status, white blood cell (WBC) counts, platelet (PLT) counts, hemoglobin (Hb), hematocrit (Hct) levels and demographics of the patients were recorded. Results: JAK2-V617F mutation was detected in 55.9% of the 168 patients. The mutation was observed in 58.2% of PV cases, in 54.4% of ET and in 54.5% of PMF cases. All patients were divided into two groups: mutation positive and negative. Age, WBC and PLT levels were significantly higher in mutation positive group (p<0.05). Age, WBC, Hb, Hct and PLT counts in PV cases with JAK2-V617F mutation, age and WBC counts in PMF cases with JAK2-V617F mutation were found to be significantly higher compared to mutation negative patients (p<0.05). Conclusion: JAK2-V617F mutation is a very important parameter in diagnostic and prognostic evaluation. Thus, every patient suspected of having a myeloproliferative neoplasm should be screened for JAK2-V617F mutation. [ABSTRACT FROM AUTHOR]

Published
2020
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8. RETROSPECTIVE ANALYSIS OF GENETIC MUTATION TEST RESULTS IN PATIENTS FOLLOWED WITH POLYCYCEMIA

Author

ŞEN BOZKURT, Emine, KİRAZ, Aslıhan, ERDOĞAN, Murat, and KORKMAZ, Serdal

Subjects
Polisitemi, Polisitemia Vera, janus kinaz 2, Health Care Sciences and Services, polycythemia, janus kinase 2, polycythemia vera, Sağlık Bilimleri ve Hizmetleri
Abstract

ÖZETAmaç: Çalışmamızın amacı, polisitemi nedeniyle polikliniğe yönlendirilen hastalarda genetik test istemleri için sınır değerler belirlemektir. Böylelikle hematoloji ve tıbbi genetik bölümlerinin iş yükü ile gereksiz istemlerin önüne geçilerek maliyet azaltılmış olacaktır.Gereç ve Yöntemler: Çalışmamız Mart 2019-Nisan 2021 tarihleri arasında başvuran hastalar dahil edilerek yapılan retrospektif kesitsel bir çalışmadır. Çalışmaya polisitemi nedeninin belirlenmesi için genetik analiz istenen 18 yaş üzeri 210 hasta dahil edilmiştir. Araştırma kriterlerine uygun hastaların bilgilerine hastane otomasyon sisteminden geriye dönük ulaşılmıştır.Bulgular: Çalışmaya alınan 210 hastanın 19’unda (%9,09) JAK2V617F mutasyonu, 1’inde (%1,16) JAK2 ekzon 12 mutasyonu saptanmıştır. Sekonder polisitemi oranı %89,75, primer polisitemi oranı %10,25 bulunmuştur. JAK2 pozitif erkek hastalarda lökosit sayısı ve kadın hastalarda trombosit sayısı, JAK2 negatif hastalara göre anlamlı olarak daha yüksek bulunmuştur. Genel olarak erkek hastaların Hgb, Htc, kreatinin, ALT değerleri kadınlara göre istatistiksel olarak anlamlı yüksek bulunmuştur. JAK2 varlığı tahmini açısından yapılan ROC analizinde Hgb, Htc ve EPO için anlamlı bir cut off değer bulunamamıştır.Sonuç: JAK2 mutasyon testi istenen hastaların polisitemisinin çoğunlukla sekonder nedenlerden kaynaklandığını ortaya koyduk. Ancak ROC analizi sonucunda JAK2 mutasyon istemi için kullanılan Hgb ve Htc cut off değerlerinin DSÖ tarafından önerilen sınır değerler ile paralel seyrettiğini gördük. Dolayısıyla JAK2 analizi istenmeden önce sekonder nedenlerin ayrıntılı sorgulanarak ekarte edilmesi etkin bir yaklaşım olacaktır.Anahtar Kelimeler: Polisitemi, Janus kinaz 2, Polisitemia Vera, Objective: The aim of our study is to determine breakpoints for genetic test requests in patients referred to the outpatient clinic due to polycythemia. Thus, the workload of hematology and medical genetics departments and unnecessary requests will be avoided and the cost will be reduced.Material and Methods: Our study is a retrospective cross-sectional study, including patients admitted between March 2019 and April 2021. A total of 210 patients over the age of 18 for whom genetic analysis was requested to determine the cause of polycythemia were included in the study. The information of the patients who met the research criteria was obtained retrospectively from the hospital automation system.Results: JAK2V617F mutation was found in 19 (9.09%) of 210 patients included in the study, and JAK2 exon 12 mutation was found in 1 (1.16%). Secondary polycythemia rate was 89.75%, primary polycythemia rate was 10.25%. The leukocyte count in JAK2 positive male patients and the platelet count in female patients were found to be significantly higher than in JAK2 negative patients. In general, the Hgb, Htc, creatinine and ALT values of male patients were found to be statistically significantly higher than females. In the ROC analysis for the prediction of JAK2 presence, no significant cut-off value was found for Hgb, Htc and EPO.Conclusion: We revealed that the polycythemia of patients who were requested to test for JAK2 mutation was mostly due to secondary causes. However, as a result of the ROC analysis, we saw that the Hgb and Htc cut-off values used for the JAK2 mutation request were in parallel with the limit values recommended by WHO. Therefore, it would be an effective approach to rule out secondary causes by questioning in detail before JAK2 analysis is requested.Keywords: Polycythemia, Janus Kinase 2, Polycythemia Vera

Published
2022

9. Should the Panic Values in Clinical Biochemistry Laboratories be Revised According to Criteria in the Diagnosis of Chronic Myeloproliferative Neoplasms?

Author

Yasemın ARDICOGLU AKIŞIN and Cengiz BEYAN

Subjects
Health Care Sciences and Services, General Earth and Planetary Sciences, esansiyel trombositemi, kan hücresi sayımı, laboratuvar kritik değerleri, myeloproliferatif hastalıklar, polisitemia vera, primer myelofibrozis, blood cell count, essential thrombocythemia, laboratory critical values, myeloproliferative disorders, polycythemia vera, primary myelofibrosis, Sağlık Bilimleri ve Hizmetleri, General Environmental Science
Abstract

Amaç: Panik değerler, laboratuvar test sonuçlarının acil müdahale edilemediği takdirde hastanın hayati tehlikesi olabileceğini işaret eden sınır değerlerdir. Her tıbbi laboratuvar panik değerlerini her test ve durum için ilgili klinik ile beraber saptamalıdır ve bildirimlerini zamanında yaparak dokümante etmelidir. Polisitemia vera, esansiyel trombositemi, primer myelofibrozis ve kronik myelositer lösemi gibi malign hastalıkları içeren kronik myeloproliferatif neoplaziler (MPN) , hematopoietik dokunun, malign ve klonal bir hastalığıdır. Dünya Sağlık Örgütü (DSÖ) 2016 yılında hematopoetik ve lenfoid doku tümörlerinin sınıflamasında güncelleme yapmıştır. Bu çalışmadaki amaç laboratuvarımızdan yapılmış panik değer bildirimleri ile yeni DSÖ ölçütlerine göre belirlenmiş kronik MPN sınır değerlerinin üzerinde çıkan test sayılarını karşılaştırmaktır.Gereç ve Yöntemler: Çalışmada 15 yaş üzeri 58223 hastaya ait tam kan sayımı sonucu değerlendirmeye alınmıştır. Elde edilen hemoglobin, hematokrit, trombosit ve lökosit sayısı panik değer bildirim sayı veya yüzdeleri laboratuvarımızın panik değerlerine ve kronik MPN için DSÖ kriterlerine göre değerlendirilmiş ve karşılaştırılmıştır.Bulgular: Kemik iliği incelemesi yapılması için uyarıcı olması gereken hemoglobin düzeyleri için mevcut panik değer sınırlarının kullanılması halinde kadınlarda %1,13, erkeklerde %8,90; hematokrit düzeyleri için kadınlarda yaklaşık %9,59, erkeklerde %8,52 oranında hasta gözden kaçarak kronik MPN yönünden takibe alınamamaktadır. Kemik iliği incelemesi olmaksızın kronik MPN lehine uyarıcı kabul edilmesi gereken oranlar hemoglobin için kadınlarda %0,68, erkeklerde %1,74; hematokrit için kadınlarda %0,94, erkeklerde %0,38’dir. Trombosit sayısı için bu oran %2,20 iken, lökosit sayısı için %24,78’dir. Sonuçlar: Çalışmamızın sonuçları kronik MPN açısında uyarıcı olabilmesi için panik değerlerin 2016 DSÖ kılavuzundaki kronik MPN kriterlerine göre gözden geçirilerek yeniden düzenlenmesi gerekliliğini doğurmuştur., Aim: Panic values are laboratory test results that indicate that the patient may be in a life-threatening condition if urgent action is not taken. Each medical laboratory should determine their panic values and also they have to report and document the results. Chronic myeloproliferative neoplasms (MPN), including malign diseases such as polycythemia vera, essential thrombocythemia, primary myelofibrosis and chronic myeloid leukemia, is a malignant and clonal disease of hematopoietic tissue. In 2016, World Health Organization (WHO) updated the criteria of classification for hematopoietic and lymphoid tissue tumors. The aim of this study is to compare the panic value reports of our laboratory with the number of tests that exceed the limit values for chronic MPNs determined according to the new WHO criteria.Materials and Method: In the study, the results of complete blood count of 58223 patients over the age of 15 were evaluated. Hemoglobin, hematocrit, platelet and leukocyte counts were evaluated and compared according to reported the panic values of our laboratory and the WHO criteria for chronic MPN.Results: When the hemoglobin values are evaluated due to currently used panic values instead of WHO criteria, the necessity of bone marrow examination is overlooked and 1.13% of women and 8.90% of men could not be followed in terms of chronic MPN. Also, the hematocrit values of 9.59 % of women and 8.52% men could not be informative. The hemoglobin values in 0.68% of women and in 1.74% of men; the hematocrit values in 0.94 % of women and in 0.38% of men could not be taken as a warning for chronic MPN without performing marrow examination. For platelet and leukocyte counts the rates are 2.20% and 24.78%, respectively. Conclusion: In order to provide early information in terms of chronic MPN, panic values should be reviewed and rearranged according criteria in the 2016 WHO guideline.

Published
2021

10. The European Clinical, Molecular, and Pathological (ECMP) Criteria and the 2007/2008 Revisions of the World Health Organization for the Diagnosis, Classification, and Staging of Prefibrotic Myeloproliferative Neoplasms Carrying the JAK2V617F Mutation.

Author

Michiels, Jan Jacques, Kate, Fibo Ten, Lam, King H., Schroyens, Wilfried, Berneman, Zwi, and De Raeve, Hendrik

Subjects
*ERYTHROCYTES, *BLOOD volume, *CYTOCHEMISTRY, *DIAGNOSIS, *ERYTHROPOIESIS, *LONGITUDINAL method, *GENETIC mutation, *MYELOFIBROSIS, *MYELOPROLIFERATIVE neoplasms, *POLYCYTHEMIA, *THROMBOCYTOSIS, *TUMOR classification, BONE marrow examination
Abstract

Objective: The prefibrotic stages of JAK2V617F essential thrombocythemia (ET) and JAK2V617F polycythemia vera (PV) can easily be diagnosed clinically without use of bone marrow biopsy histology. We assessed the 2008 WHO and European Clinical, Molecular, and Pathological (ECMP) criteria for the diagnosis of myeloproliferative neoplasms (MPNs). Materials and Methods: Studied patients included 6 JAK2V617F-mutated ET and 4 PV patients during long-term follow-up in view of critical analysis of the literature. The bone marrow biopsy histology diagnosis without use of clinical data was PV in 7 (of which 3 were cases of ET with features of early prodromal PV) and classical PV in 4. Results: The ECMP criteria distinguish 3 sequential phenotypes (1, 2, or 3) of JAK2V617F-mutated ET: normocellular ET-1; ET-2, with clinical and bone marrow features of PV (prodromal PV), and ET-3, with hypercellular dysmorphic megakaryocytic and granulocytic myeloproliferation (ET.MGM). The 3 patients with ET-2 or prodromal PV developed slow-onset PV after a follow-up of about 10 years. Bone marrow biopsy histology differentiates MPNs of various molecular etiologies from all variants of primary or secondary erythrocytoses and thrombocytoses with sensitivity and specificity of near 100%. Conclusion: Normocellular ET (WHO-ET), prodromal PV, and classical PV show overlapping bone marrow biopsy histology features with similar pleomorphic clustered megakaryocytes in the prefibrotic stages of JAK2V617F mutated MPN. Erythrocytes are below 6x1012/L in normocellular ET and prodromal PV, and are consistently above 6x1012/L in classical PV and at the time of transition from prodromal PV into classical PV. Red cell count at a cut-off level of 6x1012/L separates ET from PV and obviates the need for red cell mass measurement when bone marrow histology and JAK2V617F mutation screening are included in the diagnostic work-up of MPNs. [ABSTRACT FROM AUTHOR]

Published
2014
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11. The Association Between Gene Polymorphisms and Leukocytosis with Thrombotic Complications in Patients with Essential Thrombocythemia and Polycythemia Vera.

Author

Mehtap, Özgür, Ateşoğlu, Elif Birtaş, Tarkun, Pınar, Gönüllü, Emel, Keski, Hakan, Topçu, Yıldıray, Üzülmez, Nilüfer, Sünnetçi, Deniz, and Hacıhanefioğlu, Abdullah

Subjects
*THROMBOCYTOSIS, *CHI-squared test, *CONFIDENCE intervals, *STATISTICAL correlation, *EPIDEMIOLOGY, *FISHER exact test, *GENETIC polymorphisms, *LONGITUDINAL method, *MAGNETIC resonance imaging, *POLYCYTHEMIA, *POLYMERASE chain reaction, *SPECTROPHOTOMETRY, *TOMOGRAPHY, *U-statistics, *DATA analysis, *RETROSPECTIVE studies, *DATA analysis software, *OLIGONUCLEOTIDE arrays, *DESCRIPTIVE statistics, *DISEASE complications, *DISEASE risk factors
Abstract

Objective: Vascular events are a common complication in patients with polycythemia vera (PV) and essential thrombocythemia (ET). This study aimed to analyze the association between PAI-1 4G/5G and ACE I/D gene polymorphisms, and leukocytosis with thrombosis in patients with PV and ET. Material and Methods: In total, 64 patients with ET and PV were evaluated. Arterial or venous thrombosis, such as cerebral transient ischemic attack, ischemic stroke, myocardial infarction, peripheral arterial thrombosis, deep venous thrombosis, and pulmonary embolism, were defined as a vascular event. DNA samples were screened for mutations via reverse hybridization strip assay. Results: In terms of PAI-1 gene polymorphism, the frequency of the 4G and 5G allele was 48.5% and 51.5%, respectively. The ACE allele frequency was 51.2% and 48.8% for D and I, respectively. There wasn't an association between occurrence of vascular events and the frequency of any allele. In terms of occurrence of vascular events, there weren't any significance differences between the patients that were carrying the ACE D/D homozygous allele to ACE I/D and those that carried the I/I allele (P = 0.93). There wasn't a significant difference in occurrence of vascular events between the PAI-1 5G/5G homozygote allele carriers, and the 4G/5G and 4G/4G allele carriers (P = 0.97). Vascular events were significantly more common in the patients with leukocytosis (leukocyte count >10 x 109 L-1) than in those without leukocytosis (leukocyte count <10 x 109 L-1) (P = 0.00). Age >60 years was also a significant risk factor for occurrence of vascular events(P = 0.008). Conclusion: PAI-1 and ACE gene polymorphisms were not considered new risk factors for thrombosis in PV and ET patients. On the other hand, leukocytosis at diagnosis was associated with the occurrence of vascular events in the patients with ET and PV. [ABSTRACT FROM AUTHOR]

Published
2012
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12. Polisitemia vera ve izole hemoglobin/hematokrit yüksekliği

Author

Kızışar Yılmaz, Safiye, Haznedaroğlu, İbrahim Celalettin, Büyükaşık, Yahya, İç Hastalıkları Anabilim Dalı, and İç Hastalıkları

Subjects
Demir eksikliği, Lökositoz, Trombositoz, Splenomegali, Hematoloji, Polisitemia vera, Hemik sistem. Lenfatik sistem, Hematology, İzole eritrositoz, Tromboz
Abstract

Eritrositoz klinikte sık karşılaşılan bir tablodur. Polisitemia vera (PV); tromboz, kanama, lösemi/myelofibrozis transformasyonu gibi hayatı tehdit eden komplikasyonlara yol açabildiğinden; ekarte edilmesi gereken bir eritrositoz nedenidir. Tanıda EPO düzeyi, JAK2 analizi ve kemik iliği biyopsisi gerekmektedir. Çalışmamızda EPO, JAK2 analizi ve kemik iliği biyopsisi gibi tetkiklerin her merkezde yapılamaması ve yapılan gereksiz tetkikler sonucu artan maliyet göz önüne alınarak; hemoglobin (Hb)/hematokrit (Hct) yüksekliği saptanan hastalardan bu tetkiklerin yapılması gereken hastaları tespit etmek amaçlanmıştır. Çalışmamıza 1986-2019 arasında PV tanısı almış 72 kişi PV grubu, 2016-2019 arasında Hb/Hct yüksekliği nedeniyle değerlendirilip PV saptanmamış 330 kişi diğer Hb/Hct yüksekliği (DE) grubu olarak dahil edilmiştir. PV grubunda ortalama yaş 53,1 (13,2) olup %56'sı erkek; DE grubunda 45,0 (16,9) olup %81'i erkektir. PV grubunda tanıda ortalama Hb 17,2 g/dL, Hct %52,2, lökosit 13.144/L, trombosit 507.444/L; DE grubunda Hb 17,5 g/dL, Hct %51,6, lökosit 7.771/L, trombosit 221.824/L saptanmıştır. İki grup karşılaştırıldığında PV grubunda daha sık lökositoz, trombositoz, splenomegali, arteryel-venöz tromboz, demir eksikliği ve düşük EPO düzeyi mevcuttur. (p

Published
2019

13. A 59-YEAR OLD MAN WITH PORTAL-SPLENIC AND SUPERIOR MESENTERIC VEIN THROMBOSIS.

Author

Moharramzadeh, Payman, Vahdati, Samad Shams, Hoseini, Parastou, and Pouraghaei, Mahboob

Subjects
*VEIN diseases, *SPLENIC vein, *CORONARY disease, *ABDOMINAL pain, *POLYCYTHEMIA vera, *DISEASES, *DIAGNOSIS, *PATIENTS, PORTAL vein diseases
Abstract

A-59-year-old man, a known case of ischemic heart disease, attended Emergency Department with a chief complaint of abdominal pain. He was an ex-smoker and drank alcohol occasionally. In the abdominal computed tomography scan we noticed swelling of the pancreas and thrombosis in the portal and superior mesenteric vein and in the colour Doppler ultrasonography it showed more clearly. In the work up, the diagnosis of polycythemia vera was made. [ABSTRACT FROM AUTHOR]

Published
2010

14. Trakya Üniversitesi Tıp Fakültesi Hematoloji Bilim Dalına başvuran hastalarda JAK 2 geni nokta mutasyonu ve hastalık ilişkisinin değerlendirilerek fenotip-genotip ilişkisinin kurulması

Author

Çetinkaya, Sefa, Tozkır, Hilmi, and Tıbbi Biyoloji Anabilim Dalı

Subjects
Thrombocytosis, Moleküler Tıp, JAK 2, Idiopathic Miyelofibroz, Chronic Myeloproliferative Disorders, JAK2V617F Mutation, İdiyopatik Miyelofibroz, Esansiyel Trombositemi, Polycythemia vera, Tıbbi Biyoloji, Genes, Mutation, Genetics, Molecular Medicine, Kronik Miyeloproliferatif Hastalıklar, Polisitemia Vera, Genetik, Essential Thrombocythemia, JAK2V617F Mutasyon, Medical Biology, Hospitals-university
Abstract

Yüksek Lisans Tezi BCR/ABL negatif Kronik Miyeloproliferatif hastalıklar (KMPH), fenotipik kusur ve herhangi bir uyaran olmadan mutant multipotent kök hücrelerin proliferasyonun artışıyla tanımlanır. Sitoplazmik tirozin kinaz kodlayan JAK2 geninde, V617F nokta mutasyonunun bulunmasıyla hastalıkların patogenezinde sitokinden bağımsız JAK2 aktivasyonu tespit edilmiştir. Yapılan çalışmalarda bu aktivasyon Polisitemia Vera hastalarında %95-97 oranında, Esansiyel Trombositoz hastalarında %23-27 oranında, İdiyopatik Miyelofibroz hastalarında %43-47 oranında rapor edilmiştir. Mutasyonun tespiti MPH'ın patogenezinin merkezinde bir kriter olarak ileri düzeyde anlaşılmasına önemli bir katkıda bulunmaktadır. Bu amaçla, Trakya Üniversitesi Tıp Fakültesi Hematoloji Bilim Dalı'na başvuran PV, ET, İMF ön tanısı almış hastalarda retrospektif değerlendirme ile JAK2 geni V617F nokta mutasyonunun fenotip-genotip ilişkisi ile ayırıcı tanıdaki rolünün tespiti amaçlandı. Çalışmada Polisitemia Vera ön tanılı 64, Esansiyel Trombositoz ön tanılı 44 ve İdiyopatik Miyelofibroz ön tanılı 6 hasta olmak üzere toplam 114 olguda yaş, lökosit, hemotokrit, hemoglobin ve trombosit değerleri ile JAK2 mutasyonu sonuçları retrospektif olarak tarandı. Olgular, mutasyon taşıyanlar ve taşımayanlar olarak iki gruba ayrıldı. Mutasyon sıklığı ve tam kan sayım parametreleri açısından SPSS 19.0 programı ile değerlendirildi. Mutasyon sıklığı Polisitemia Vera ön tanılı olgularda % 35,9, Esansiyel Trombositoz ön tanılı olgularda %59,1 ve İdiyopatik Miyelofibroz ön tanılı olgularda %66,7 olarak bulundu. PV ön tanılı olgularda mutasyon taşıyan kadın olgular, mutasyon taşıyan pozitif olgulardan anlamlı olarak yüksek çıktı (p: 0,036). ET ön tanılı olgularda sayısal yetersizlik nedeniyle istatistiksel olarak anlamlı çıkmasada mutasyon taşıyan kadın olgular mutasyon taşıyan erkek olgulardan fazladır (p: 0,125). Mutasyon taşıyan olgular ile taşımayan olgular arasında lökosit (p:0,412), hemoglobin (0,237), hematokrit (0,865) değerleri arasında anlamlı fark çıkmadı. V617F mutasyonu taşıyan Polisitemia Vera ön tanılı olgularda V617F mutasyonu yüksek lökosit (p:0,008) ile ilişkili olduğu saptandı. Hematokrit değeri açısından anlamlı bir fark tespit edilememiştir. V617F mutasyonu pozitif olan Esansiyel Trombositoz ön tanılı olgularda anlamlı yüksek hemoglobin (p:0.006) bulundu. İMF ön tanılı olgular sayısal yetersizlik nedeniyle değerlendirilmeye alınmadı. Sonuç olarak, endikasyon kriterlerinin daha dikkatli kullanımı ile Polisitemia Vera için JAK2 V617F mutasyonu ayırıcı tanıda etkin rol oynamaktadır. Esansiyel Trombositoz ve İdiyopatik Miyelofibroz tanıları için JAK2 V617F mutasyonu değerlendirme kriterlerinin içerisinde yer almalıdır. Yaş, cinsiyet gibi demografik kriterler ve hastalık hikayesi gibi etkenlerinde dahil edildiği daha geniş bir çalışma yapılması zorunlu hale gelmiştir .Anahtar Kelimeler: JAK2V617F mutasyon, Kronik Miyelop Abstract BCR/ABL negative Chronic Myeloproliferative Diseases are identified by increasing of proliferation of multipotent stem cells without phenotypic defects or any stimuli. In the pathogenesis of the diseases, cytokine-independent JAK2 activation was detected by the identification of V617F mutation on cytoplasmic thyrosine kinase coding JAK2 gene. According to recent studies, this activation is reported as 95-97% in Polycythemia Vera, 23-27% in Essential Thrombocytosis, 43-47% in Idiopathic Myelofibrosis. Identification of V617F mutation, provides an advanced level for understanding the pathogenesis of Chronic Myeloproliferative Disease why because it's in the central of the pathway. The aim of the present work is researching the incidence of V617F mutation on JAK2 gene of clinically Polycythemia Vera, Essential Thrombocytosis or Idiopathic Miyelofibroz diagnosed patients which applied to Trakya University, Hematology Department. Also, the study aims defining the genotype-phenotype relation of V617F mutation of JAK2 gene. 64 patients with Polycythemia Vera pre-diagnosis, 44 patients with Essantial Thrombocytosis pre-diagnosis and 6 patients with Idiopathic Miyelofibroz pre-diagnosis were included to the present work. Age, leukocyte, hematocrit, hemoglobin and thrombocyte values of whole 114 patients were scanned retrospectively and compared with the JAK2 mutation incidence. Two distinct groups were defined; as the first patients with JAK2 mutation and the second patients without JAK2 mutation. The frequency of JAK2 mutation and complete blood count parameters were statistically studied with using SPSS 19.0 software. The frequency of JAK2 mutation is detected as; 35.9% in the Polycythemia Vera prediagnosed patients, 59.1% in the Essantial Thrombocytosis prediagnosed patients and 66.7% in the Idiopathic Miyelofibrosis prediagnosed patients. The mutation incidence in the female patients which are prediagnosed with PV is detected significantly higher than the whole mutation positive male patients (p: 0,036). Even the results are not statistically significant due to a quantitative insufficiency, in ET prediagnosed cases, number of female patients which have the mutation is higher than the male patients (p: 0.125) Leukocyte (p:0,412), hemoglobin (p:0,237), hematocrit (p:0,865) values were not significantly different in the cases with/without the mutation. In Polycythemia Vera prediagnosed patients, V617F mutation is detected as high leukocyte-related (p:0,008). Hematocrit levels are not significantly different in both cases. Our data indicates that V617F positive Essantial Thrombocytosis patients have high hemoglobin (p:0.006) levels. The analysis results of Idiopathic Miyelofibrosis patients were not included in the evaluation due to quantitative insufficiency .Miyelofibroz patients are not significant because of not having enough pre-diagnosed patient. In conclusion, JAK2 V617F mutation analysis can be used as a diagnosis indicator for Polycythemia Vera. JAK2 V617F mutation analysis should be included in the evaluation criterias for Essantial Thrombocytosis and Idiopathic Miyelofibrosis. A further study including anamnesis and demographic criterias such as gender, age, etc. should be done for more significant results .Keywords: JAK2V617F mutation, Chronic myeloproliferative disorders, Essential thrombocythemia, Idiopathic Miyelofibroz, Polycythemia vera

Published
2012

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