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1.
Rev. cuba. anestesiol. reanim ; 20(3): e729, 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1351989

ABSTRACT

La trombocitemia esencial forma parte del grupo de neoplasias mieloproliferativas. Se caracteriza por síntomas microvasculares y vasomotores, recuento plaquetario superior a 450 x 109/l, proliferación megacariocítica con morfología grande y madura, ausencia de proliferación eritroide y granulocítica, demostración de JAK2V617F u otro marcador clonal y ausencia de evidencia de trombocitosis reactiva. Se reporta el manejo anestésico en una paciente donde las principales consideraciones están relacionadas con la prevención de eventos hemorrágicos y trombóticos. La suspensión de la aspirina, el mantenimiento del tratamiento con hidroxiurea, la preparación con ácido tranexámico, el uso pre y posoperatorio de fraxiparina, hidratación adecuada, uso de medias elásticas en miembros inferiores, deambulación precoz, buena hemostasia quirúrgica y disponibilidad de concentrados de plaquetas son los elementos fundamentales en la conducción anestésica de esta paciente(AU)


Essential thrombocythemia is part of the group of myeloproliferative neoplasms. It is characterized by microvascular and vasomotor symptoms, platelet count over 450x109/L, megakaryocytic proliferation with large and mature morphology, absence of erythroid and granulocytic proliferation, demonstration of JAK2V617F or other clonal marker, and absence of evidence of reactive thrombocytosis. Anesthetic management is reported in a patient, whose case's main considerations are related to the prevention of hemorrhagic and thrombotic events. Aspirin suspension, maintenance of hydroxyurea treatment, preparation with tranexamic acid, pre- and post-operative use of fraxiparin, adequate hydration, use of elastic stockings in lower limbs, early ambulation, good surgical hemostasis, as well as availability of platelet concentrates are the fundamental elements in the anesthetic management of this patient(AU)


Subject(s)
Humans , Female , Middle Aged , Platelet Count , Thrombocythemia, Essential/complications , Hemostasis, Surgical , Tranexamic Acid/therapeutic use , Stockings, Compression , Anesthetics/therapeutic use
2.
Journal of Experimental Hematology ; (6): 1540-1547, 2021.
Article in Chinese | WPRIM | ID: wpr-922292

ABSTRACT

OBJECTIVE@#To analyze the disease types, clinical manifestations, efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant myeloproliferative neoplasms (MPN), and provide a reference for the diagnosis, treatment and prognosis of MPN.@*METHODS@#The clinical characteristics, diagnosis, therapeutic efficacy and outcome of JAK2 V617F and BCR-ABL double-mutant MPN were analyzed comprehensitively by combining a clinical case diagnosed and treated in our hospital with literature cases from CNKI and PubMed databases.@*RESULTS@#A total of 38 related literatures were retrieved from the two databases by searching "JAK2 V617F" and "BCR-ABL" as key words from 1990 to 2019, and 59 cases were involved. Among all the 60 cases, 41 were males (68.3%) with a median age of 61 (32-77) years old, while 19 were females (31.7%) with a median age of 58 (21-82) years old. The BCR-ABL fusion gene and JAK2 V617F mutation were found simultaneously in 21 cases (35%), 19 cases (31.7%) with JAK2 V617F mutation were found during the treatment of Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia (CML). Ph@*CONCLUSION@#As cases of BCR-ABL and JAK2 V617F double-mutant MPN are reported, simultaneous detection of JAK2 V617F mutation and BCR-ABL fusion gene in MPN patients is necessary to avoid misdiagnosis and missed diagnosis.


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Fusion Proteins, bcr-abl/genetics , Humans , Janus Kinase 2/genetics , Male , Middle Aged , Myeloproliferative Disorders/genetics , Polycythemia Vera , Thrombocythemia, Essential , Young Adult
3.
Rev. colomb. anestesiol ; 48(4): e302, Oct.-Dec. 2020. graf
Article in English | LILACS, COLNAL | ID: biblio-1149789

ABSTRACT

Patients with Essential Thrombocythemia pose a variety of anesthetic challenges including a heightened risk of perioperative thrombosis. This condition is also associated with perioperative hemorrhage, risk for developing heparin induced thrombocytopenia type 2 during cardiac surgery and digital gangrene from radial artery catheterization.


Los pacientes con trombocitemia esencial plantean una variedad de desafíos anestésicos, incluido un mayor riesgo de trombosis perioperatoria. Esta condición también se asocia con hemorragia perioperatoria, riesgo de desarrollar trombocitopenia tipo 2 inducida por heparina durante la cirugía cardíaca y gangrena digital por cateterismo de la arteria radial.


Subject(s)
Humans , Thrombocytopenia , Thrombosis , Catheterization , Thrombocythemia, Essential , Thoracic Surgery , Radial Artery , Hemorrhage , Anesthetics
4.
Hematol., Transfus. Cell Ther. (Impr.) ; 42(3): 238-244, July-Sept. 2020. tab, graf
Article in English | LILACS | ID: biblio-1134042

ABSTRACT

ABSTRACT Background: The classical BCR-ABL1-negative myeloproliferative neoplasms (MPNs) are Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF). In developing countries, there are few reports that truly reveal the clinical setting of these patients. Therefore, we aimed to characterize a single center MPN population with a special focus on the correct diagnosis based on the recent review of the WHO criteria for the diagnosis of myeloid neoplasms. Methods: This retrospective study analyzed data from medical records of patients with classical BCR-ABL1-negative MPNs diagnosed from January 1997 to October 2017 and followed at the University Hospital of Ribeirão Preto Medical School. Results: A total of 162 patients were assessed, 61 with PV, 50 with ET, and 51 with PMF. The mutational status analysis revealed that 113 (69.3%) harbored the JAK2V617F mutation, 23 (14.1%), the CALR mutation, and 12 (7.4%) had a triple-negative status. None of the patients were found to have mutations on the thrombopoietin receptor gene (MPL), including some ET and PMF patients who were not tested. Among the PV patients, 57 (93.5%) were positive for the JAK2V617F mutation, one (1.6%) presented an in-frame deletion JAK2 exon 12 mutation and one (1.6%) presented a missense JAK2 exon 9 mutation, not previously described. The overall survival was lower in the triple-negative patients with PMF, when compared to the JAK2V617F or CALR-mutated (p= 0.002). Conclusion: The frequency of somatic mutations and survival in our cohort, stratified according to the respective disease, was consistent with the literature data, despite some limitations. Further prospective epidemiological studies of MPN cohorts are encouraged in developing countries.


Subject(s)
Humans , Male , Adult , Middle Aged , Aged , Aged, 80 and over , Polycythemia Vera , Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative , Primary Myelofibrosis , Thrombocythemia, Essential , Myeloproliferative Disorders
5.
Rev. bras. anal. clin ; 52(1): 27-31, 20200330.
Article in Portuguese | LILACS | ID: biblio-1104127

ABSTRACT

Trombose essencial é uma das doenças mieloproliferativas crônicas, rara e de etiologia ainda desconhecida, mas que apresenta risco alto de eventos trombóticos e/ou hemorrágicos, uma vez que acomete as células megacariocíticas e, consequentemente, as plaquetas. O objetivo deste trabalho foi realizar uma revisão das publicações sobre o tema abordado. O estudo caracteriza-se como revisão bibliográfica de artigos das bases de dados da Literatura Latino-Americana e do Caribe em Ciências da Saúde (Lilacs), National Library of Medicine (PubMed), Scientific Electronic Library Online (SciELO) e Google acadêmico. Foram incluídos artigos disponíveis e em qualquer idioma de publicação, com a finalidade de aumentar o referencial teórico. Posteriormente à seleção e análise dos artigos, foram encontrados alguns pontos em comum, como a dificuldade em se diagnosticar a doença. De acordo com os estudos, a maioria dos doentes é assintomática, mas pode apresentar desde eventos trombóticos até mesmo embolia pulmonar. Atualmente, o tema vem crescendo, principalmente abordando técnicas moleculares mais específicas para a descoberta da doença em seu estágio inicial. A análise dos artigos demonstrou a dificuldade do diagnóstico da trombose essencial, sendo a sua identificação crucial nos estágios iniciais.


Essential thrombosis is one of the chronic myeloproliferative diseases, rare and of unknown etiology, but which presents a high risk of thrombotic and / or hemorrhagic events. Once it attacks the megakaryocytic cells and consequently the platelets. The objective of this work is to review the publications on the subject. The study is characterized as a bibliographical review of articles from the Latin American and Caribbean Literature in Health Sciences (LILACS), National Library of Medicine (PubMed), Scientific Electronic Library Online (SciELO) and Google Acadêmico. Articles were included and in any language of publication, in order to increase the theoretical reference. Subsequent to the selection and analysis of the articles, some common points were found such as the difficulty in diagnosing the disease. According to the studies, the majority of patients are asymptomatic but may present from thrombotic events to even pulmonary embolism. Currently, the topic has been growing, mainly addressing molecular techniques more specific to the discovery of the disease in its initial stage. The analysis of the articles demonstrated the difficulty of diagnosing essential thrombosis, which is crucial in the initial stages.


Subject(s)
Thrombocytosis , Janus Kinase 2 , Thrombocythemia, Essential
6.
Journal of Experimental Hematology ; (6): 1321-1325, 2020.
Article in Chinese | WPRIM | ID: wpr-827118

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics of essential thrombocytopenia (ET) patients with positive mutations including JAK2, CALR, MPL, or negative mutations.@*METHODS@#A total of 66 newly diagnosed ET cases from January 2016 to December 2018 in Department of Hematology, Huaian No.1 People's Hospital affiliated to Nanjing Medical University were analyzed. Statistical analysis data included the patient's sex, age, symptoms, thrombosis and embolism events, spleen omegaly, platelet count (Plt), leukocyte (WBC) count, hemoglobin (Hb), fibrinogen (FIB), thrombus elastic diagram (TEG), serum potassium, blood glucose (GLU), lactate dehydrogenase (LDH), JAK2, CALR and MPL mutations, treatment options, and efficacy.@*RESULTS@#All the patients were not MPL-positive, and divided in three groups: JAK2 mutation (46 cases, 69.7%), CALR mutation (9 cases, 13.6%) and gene negative mutation (11 cases, 16.7%) group. The average age of patients in the JAK2 mutation group was 63.2 years old, and significantly higher than that in the CALR mutation group (51.8 year) and gene negative group (50.2 year) (P<0.05). Compared with the JAK2 mutation group and gene negative group, the CALR mutation group had lower WBC count (6.3×10/L vs 13.79×10/L) (P=0.003) (6.3×10/L vs 9.70×10/L) (P=0.009). Also the Hb level of patients in CALR mutation group was lower than the JAK2 mutation group (121.22 g/L vs 136.2 g/L) (P=0.036). However, there was higher tumor burden in the CALR mutation group, compared with the gene negative mutation group (300.11 U/L vs 227.4 U/L) (P=0. 033). There was no significant difference among the three groups, such as the Plt counts, serum potassium level, GLU level and FIB level (P>0.05). In addition, thrombus and embolism appeared in 30.3% (20/66) cases. 18.2% (12/66) cases were complicated with hyperkalemia, which significantly correlated with Plt counts (r=0.518). TEG was performed in 34 patients, of which 41.2% (14/34) had abnormal TEG and 55.9% (19/34) were accompanied by Plt count > 1 000 ×10/L, but there was no significant correlation between them (r=0.134). After routine clinical treatment, all the 66 cases achieved partial or complete hematological remission, but the disease usually repeated. Until now 4.5% (3/66) cases had been converted to myelofibrosis (MF) all with JAK2 mutation, but without advancing to acute myeloid leukemia.@*CONCLUSION@#ET patients with JAK2 mutation have higher incidence, moreover were in older age. However, the patients with CALR mutations display lower WBC count and Hb level, but higher tumor burden. In short, the multiple gene mutations of ET showed different clinical features closely relates with the prognosis, thus providing guidance for the clinical diagnosis and treatment.


Subject(s)
Aged , Calreticulin , Genetics , Humans , Janus Kinase 2 , Genetics , Middle Aged , Mutation , Primary Myelofibrosis , Thrombocythemia, Essential , Thrombocytopenia
7.
Journal of Experimental Hematology ; (6): 1326-1331, 2020.
Article in Chinese | WPRIM | ID: wpr-827117

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics, laboratorial and bone marrow pathological features of primary thrombocytopenia (ET) patients with different mutations of CALR, JAK2 and MPL genes.@*METHODS@#The chinical data of 120 cases of ET in Jiangsu provincial people's hospital/ The First Affiliated Hospital of Nanjing Medical University from January 2015 to December 2017 were collected and analyzed, including 76 cases with JAK2 gene mutation, 40 cases with CALR gene mutation, 2 cases with MPL gene mutations, 2 cases without gene mutation.@*RESULTS@#Among the ET patients, compared with the JAK2 gene mutation, CALR gene mutation showed statistically significant deareament of white blood cells and hemoglobin (P=0.001, P=0.01) and the male platelets in CALR group showed significant increament (P=0.04). Fourthermore, the average number of megakaryocytes and its cluster numbers in each hight power field of vision showed statistically significant decreament in CALR group as compared with JAK2 group (P=0.001, P=0.001), and thrombotic events in CALR group were signicantly lower than those in JAK2 group (7.5% vs 18.4%) (P=0.03).@*CONCLUSION@#Mutations of CALR, JAK2 have different clinical characteristics and blood pathological changes of Chinese ET patients, and their clinical significance is worth to explore.


Subject(s)
Bone Marrow , Calreticulin , Genetics , China , Humans , Janus Kinase 2 , Genetics , Male , Mutation , Receptors, Thrombopoietin , Genetics , Thrombocythemia, Essential
8.
Journal of Experimental Hematology ; (6): 2046-2050, 2020.
Article in Chinese | WPRIM | ID: wpr-880013

ABSTRACT

OBJECTIVE@#To detect the levels of microparticles (MP) in plasma of patients with esseutial thrombo-cythermia(ET) and analyze the relationship between the JAK2V617F mutant and MP in ET patients.@*METHODS@#The numerical values of MPs were analysed by using flow cytometry. Venous blood of 56 ET patients and 28 healthy persons was collected in the morning and anticoagulated with sodium citrate (1∶9). The RMP, PMP, TF@*RESULTS@#The detection results showed that the MP levels in ET group were higher than those in normal control group: RMP (157.2±304.9/μl vs 21.3±18.4/μl), PMP (1378.9±2454/μl vs 113.8±97.1/μl), TF@*CONCLUSION@#The numerical values of MP detected are more in ET patients than those in healthy controls. The number of MP is higher in patients with thrombus than that without thrombus, so do in patients with splenomegaly and without splenomegaly. Patients with JAK2V617F mutation show higher number of TF


Subject(s)
Blood Platelets , Cell-Derived Microparticles , Endothelial Cells , Humans , Mutation , Patients , Thrombocythemia, Essential/genetics
9.
Rev. Assoc. Med. Bras. (1992) ; 65(6): 772-774, June 2019.
Article in English | LILACS | ID: biblio-1041042

ABSTRACT

SUMMARY The essential thrombocythemia is one of the seven described forms of myeloproliferative neoplasms. It is characterized by megakaryocytic hyperplasia with consequent thrombocytosis maintained in the peripheral blood, favoring the occurrence of thrombo-hemorrhagic phenomena. We present the case of an 81-year-old woman with a history of ischemic stroke in the context of a sustained thrombocytosis, which led to a spinal study and a search for the V617F mutation in the JAK2 gene, which was positive. The patient started cytoreductive therapy with hydroxyurea with favorable current evolution.


Subject(s)
Humans , Female , Aged , Stroke/etiology , Thrombocythemia, Essential/complications , Risk Factors , Stroke/genetics , Janus Kinase 2/genetics , Thrombocythemia, Essential/genetics , Mutation
10.
Acta méd. colomb ; 44(2): 82-90, abr.-jun. 2019. tab
Article in Spanish | LILACS | ID: biblio-1038138

ABSTRACT

Resumen Introducción: la carga sintomática de pacientes con neoplasias mieloproliferativas crónicas Filadélfia negativas (NMC-PhN) afecta la calidad de vida (CV). Existen escalas para evaluar la magnitud de los síntomas, una de ellas, MPN-SAF-10. En nuestra región existe escasa información sobre CV de pacientes con NMC-PhN. Objetivos: estimar el puntaje de calidad de vida con la escala MPN-SAF-10 en pacientes con NMC-PhN atendidos en el Hospital de San José (Bogotá, Colombia) y explorar asociaciones entre el tiempo de tratamiento, carga de complicaciones y el efecto en la CV. Material y métodos: estudio de corte transversal analítico para evaluar CV basada en carga sintomática de pacientes con NMC-PhN del Hospital de San José (Bogotá, Colombia). Se realizó análisis descriptivo y estratificado de calidad de vida, tratamiento citorreductor y de diferentes complicaciones, así como pruebas de asociación de los puntajes de riesgo de cada enfermedad con sus respectivos puntajes de CV. Resultados: en 64 pacientes la escala MPN-SAF-10 documentó medianas de puntajes globales de CV de 3 (RIC 1-6), MPN-SAF-10 de 20 (RIC 8-32). Un 49% de los pacientes tuvo algún grado de alteración (30% moderada y 19% severa), sin diferencias entre las tres enfermedades. Los puntajes de CV no variaron entre las NMC-PhN. El tratamiento y duración del mismo no se correlacionaron con la escala de MPN-SAF-10 (hidroxiúrea r: - 0.27; ruxolitinib r: 0.12). Conclusiones: en pacientes con NMC-PhN, la evaluación de CV con la escala MPN-SAF-10 evidencia algún grado de afectación a pesar del tratamiento; ésta es útil para objetivar dicha afectación y debe implementarse en la práctica clínica. (Acta Med Colomb 2019; 44: 82-90).


Abstract Introduction: the symptomatic burden of patients with Philadelphia negative chronic myelopro liferative neoplasms (NMC-PhN) affects the quality of life (QL). There are scales to evaluate the magnitude of the symptoms; one of them, MPN-SAF-10. In our region there is scarce information on QL of patients with NMC-PhN. Objectives: To estimate the quality of life score with the MPN-SAF-10 scale in patients with NMC-PhN treated at Hospital de San José (Bogotá, Colombia) and to explore associations between treatment time, complication load and the effect on the QL. Material and methods: Analytical cross-sectional study to evaluate QL based on symptomatic load of patients with NMC-PhN from Hospital de San José (Bogotá, Colombia). A descriptive and stratified analysis of quality of life, cytoreductive treatment and different complications was carried out, as well as association tests of the risk scores of each disease with their respective QL scores. Results: in 64 patients the MPN-SAF-10 scale documented medians of global QL scores of 3 (RIC 1-6), MPN-SAF-10 of 20 (RIC 8-32). 49% of the patients had some degree of alteration (30% moderate and 19% severe), without differences between the three diseases. The QL scores did not vary between the NMC-PhN. The treatment and its duration did not correlate with the MPN-SAF-10 scale (Hydroxyurea r: - 0.27, Ruxolitinib r: 0.12). Conclusions: in patients with NMC-PhN, the evaluation of QL with the MPN-SAF-10 scale shows some degree of affectation despite the treatment; this is useful to objectify this affectation and should be implemented in clinical practice. (Acta Med Colomb 2019; 44: 82-90).


Subject(s)
Humans , Male , Female , Adult , Myelodysplastic-Myeloproliferative Diseases , Polycythemia Vera , Quality of Life , Primary Myelofibrosis , Thrombocythemia, Essential
11.
Article in Chinese | WPRIM | ID: wpr-771926

ABSTRACT

OBJECTIVE@#To explore the symptomatic burden of patients with essential thrombocythemia (ET) and its relation with clinical characteristics including the mutation status, therapeutic protocols and sex.@*METHODS@#Total of 173 Chinese ET patients were selected and grouped on the basis of disease characteristics (mutation status, therapeutic pro to- cols, and sex).@*RESULTS@#All the groups showed low-to-high symptom burden, with the highest in the Hu (hydroxyurea)-group (total symptom score [TSS], 14.7; range, 7.6-14.7). In the JAK2V617F-positive, Hu-treated, and female groups TSS and independent symptom scores were higher than those in the control group. The CALR-positive and IFN-α-treated groups had lower overall and individual scores as compared with groups lacking the corresponding characteristics. As the number of characteristics (JAK2V617F-positive, Hu-treated, and female) increases, the severity of symptoms gradually increased.@*CONCLUSION@#The different characteristics have various effects on symptom burden in ET patients. The accumulation of certain characteristics will lead to more severe symptom burden, thus the patient's symptom burden should be considered comprehensively when making up the treatment schemes and prognosis.


Subject(s)
Asian Continental Ancestry Group , Calreticulin , Female , Humans , Hydroxyurea , Janus Kinase 2 , Mutation , Thrombocythemia, Essential
12.
Article in Chinese | WPRIM | ID: wpr-771924

ABSTRACT

OBJECTIVE@#To explore the role of neutrophil-to-lymphocyte ratio(NLR) in patients with newly diagnosed essential thrombocythemia(ET) and its relationship with thrombotic events.@*METHODS@#The clinical and follow-up data of 150 ET patients were retrospectively analyzed. The risk factors of thrombotic events and role of NLR by statistical methods.@*RESULTS@#Age (P<0.01) and JAK2V617F mutation (P<0.01) were the independent risk factors for thrombotic events at diagnosis; WBC count (P<0.05), NLR (P<0.01), age (P<0.05) and thrombosis history at diagnosis (P<0.05) were independent risk factors for future thrombotic events. The ROC curve showed that NLR for prediction of future thrombotic events was suprior to other risk factors. The Kaplan-Meier analysis showed that the progress-free survival time in thrombotic events patients with higher NLR (median survival 22.3 months, 95% CI:17.8-26.8) was significantly shorter than that of patients with lower NLR (median survival 55.5 months, 95% CI:53.4-57.5) . After follow-up 60 months, the thrombosis progress-free survival in lower NLR patients reached 97.4%, while that in the patients with higher NLR was rate 46.7%.@*CONCLUSION@#NLR at diagnosis is a better predictive parameter for future thrombotic events than other clinical parameters in ET patients, but without corralations with thrombosis at diagnosis.


Subject(s)
Humans , Lymphocyte Count , Lymphocytes , Neutrophils , Prognosis , Retrospective Studies , Thrombocythemia, Essential , Thrombosis
13.
Article in Korean | WPRIM | ID: wpr-761395

ABSTRACT

OBJECTIVE: Myeloproliferative neoplasm (MPN) is considered as one of the risk factors of ischemic stroke. Some MPN patients manifest stroke as their first symptom. Our purpose was to assess diagnostic rate of MPN in newly diagnosed acute ischemic stroke patients. METHODS: This study was performed using National Health Insurance Service Ilsan Hospital dataset. Data retrieving was performed by defining by defining the patient with coding of acute ischemic stroke from January 2013 to June 2017. We selected only the patients who had checked brain magnetic resonance imaging and complete blood cell count (CBC) in emergency room or on admission. Among the results of CBC finding, hemoglobin and platelet count were analyzed. Erythrocytosis was defined >16.5 g/dL (male), >16 g/dL (female) according to revised World Health Organization (WHO) classification of polycythemia vera (PV) criteria. Thrombocytosis was >450,000/µL according to revised WHO classification of essential thrombocythemia (ET). RESULTS: Total number of newly diagnosed acute ischemic stroke was 1,613 patients. Seven patients (0.43%) were diagnosed MPN (ET=2, PV=5) after ischemic stroke. Patients who had thrombocytosis and erythrocytosis were 18 and 105, respectively. Three patients who had thrombocytosis were diagnosed MPN (ET=2, PV=1). Two patients with erythrocytosis were diagnosed MPN (PV=2). Two patients had both thrombocytosis and erythrocytosis, and two of them were diagnosed PV. Seventy-one patients who had erythrocytosis were normalized in follow-up period. Six patients who had thrombocytosis and 30 patients who had erythrocytosis did not further evaluate. CONCLUSION: CBC has to be carefully read and MPN can be suspected. Diagnosis must be confirmed by hematologist to initiate appropriate treatment. It is important to recognized suspected MPN patients to prevent stroke.


Subject(s)
Blood Cell Count , Brain , Classification , Clinical Coding , Dataset , Diagnosis , Emergency Service, Hospital , Follow-Up Studies , Humans , Magnetic Resonance Imaging , National Health Programs , Platelet Count , Polycythemia , Polycythemia Vera , Risk Factors , Stroke , Thrombocythemia, Essential , Thrombocytosis , World Health Organization
15.
Korean Journal of Medicine ; : 351-359, 2018.
Article in Korean | WPRIM | ID: wpr-716224

ABSTRACT

The World Health Organization (WHO) Classification of Tumors of Haematopoietic and Lymphoid Tissues was recently published in a revised fourth edition. The categories of myeloproliferative neoplasms (MPNs) have not significantly changed since the 2008 fourth edition of the classification; however, newly discovered mutations including CALR and CSF3R and improved characterizations and standardizations of morphological features of some entities, particularly BCR-ABL1-negative MPNs, have impacted the diagnostic criteria of disease entities, increasing the reliability and reproducibility of diagnoses. The 2017 revised edition attempts to incorporate new clinical, prognostic, morphologic, and genetic data that have emerged since the last edition. This article reviews the major changes in the classification and their rationale for MPN classification within the revised 2017 WHO system.


Subject(s)
Classification , Diagnosis , Global Health , Lymphoid Tissue , Myeloproliferative Disorders , Polycythemia Vera , Primary Myelofibrosis , Thrombocythemia, Essential , World Health Organization
16.
Article in English | WPRIM | ID: wpr-715665

ABSTRACT

BACKGROUND: This study aimed to determine GATA1 expression levels to better characterize subgroups in BCR/ABL1-negative myeloproliferative neoplasms (MPNs). METHODS: This study enrolled 49 patients diagnosed as having BCR/ABL1-negative MPN on the basis of the 2016 World Health Organization classification : nine polycythemia vera (PV), 17 essential thrombocythemia (ET), 12 prefibrotic primary myelofibrosis (prePMF), and 11 overt primary myelofibrosis (PMF). Relevant clinical and laboratory data were retrieved from the medical records. The molecular analysis of CALR and MPL mutations and quantification of JAK2 V617F allele burden were performed. GATA1 expression was assessed by an immunohistochemical assay on bone marrow biopsy. GATA1 expression was analyzed serially in 18 patients. RESULTS: GATA1 expression decreased significantly in PMF compared with that in other subtypes, while no statistical difference was identified between ET and prePMF. GATA1 expression did not differ according to the mutation profiles or the allele burden of JAK2 V617F, but it decreased significantly in patients with overt fibrosis or leukemic transformation. CONCLUSIONS: Our results suggest that GATA1 expression is significantly low in PMF and decreases with progressive fibrosis and possibly with leukemic transformation, although our attempt to accurately distinguish between subgroups using GATA1 immunohistochemical approach did not achieve statistical significance. A large patient cohort with long term follow-up is required to evaluate the prognostic value of GATA1 expression.


Subject(s)
Alleles , Biopsy , Bone Marrow , Classification , Cohort Studies , Fibrosis , Follow-Up Studies , Humans , Medical Records , Polycythemia Vera , Primary Myelofibrosis , Thrombocythemia, Essential , World Health Organization
17.
Article in Chinese | WPRIM | ID: wpr-690945

ABSTRACT

Myeloproliferative neoplasm(MPN) is clonal hematopoietic stem cell disorder characterized by abnormal proliferation and expansion of one or more myeloid lineages. BCR-ABL-negative MPN includes polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The mutations of JAK2, CALR and MPL genes are involved in the pathogenesis of MPN that provided a more complete molecular diagnostic standard for MPN. More and more new mutated genes related to prognosis of MPN were discovered in the past few years, at same time it was found that cytokines were also involved in the genesis and development of MPN. These provide a theoretical basis for the diagnosis, risk stratification and treatment management of MPN. In this article, the mechanisms of MPN-related cytokines and mutated genes in the genesis and development of disease and prognosis characteristics are summarized.


Subject(s)
Calreticulin , Cytokines , Humans , Janus Kinase 2 , Mutation , Myeloproliferative Disorders , Thrombocythemia, Essential
18.
Article in Chinese | WPRIM | ID: wpr-689566

ABSTRACT

<p><b>OBJECTIVE</b>To explore the relationship between driver mutations and clinical characteristics in patients with Philadelphia chromosome (Ph) negative myeloproliferative neoplasms (MPN), so as to provide evidence for diagno-sis and treatment of the disease.</p><p><b>METHODS</b>The clinical data of 410 patients with classic Ph negative MPN including 150 cases of polycythemia vera (PV), 188 cases of essential thrombocythemia (ET) and 72 cases of primary myelofibrosis (PMF) from January 2013 to December 2016 in Fujian Medical University Union Hospital were retrospectively analyzed. The PCR or DNA sequencing were used for JAK2 V617F, JAK2 exon12, CALR and MPL W515L/K mutation analyses, and follow-up information on patients was updated by direct phone call or follow-up in outpatient.</p><p><b>RESULTS</b>Among the 410 patients with Ph negative MPN, 136 (33.2%) cases were asymptomatic at diagnosis. 389 cases were sequenced and JAK2 V617F was detected in 87.1% (122/140) of PV, 64.1% (118/184) of ET, 64.6% (42/65) of PMF; JAK2 exon 12 mutation in 1 case of PV; MPL W515L/K mutation in 1 case of ET and PMF, respectively; CALR mutation in 18(9.8%) cases of ET and 5 (7.7%) cases of PMF. JAK2 V617F mutated PV patients ocourred in older age: the white blood cell count, platelet count and incidence of splenomegaly were higher than JAK2-negative PV cases(P<0.05). Compared with JAK2 V617F mutated ET patients, CALR mutated ET cases displayed younger age, lower leukocyte count, higher platelet count and lower incidence of thrombosis; JAK2-negative ET cases had younger age, lower leukocyte count, lower hemoglobin level, higher platelet count and lower incidence of thrombosis(P<0.05). The incidence of splenomegaly in JAK2 V617F or CALR mutated PMF patients was both higher than that in JAK2-negative PMF cases, but the incidence of leukemia transformation in JAK2-negative PMF patients was higher than that in JAK2 V617F mutated cases (P<0.05).</p><p><b>CONCLUSION</b>The types of driver mutations are closely related with the clinical features and prognosis in Ph negative MPN patients.</p>


Subject(s)
Calreticulin , Humans , Janus Kinase 2 , Mutation , Primary Myelofibrosis , Retrospective Studies , Thrombocythemia, Essential
19.
Article in Chinese | WPRIM | ID: wpr-689562

ABSTRACT

<p><b>OBJECTIVE</b>To analyze the mutation rate and clinical characteristics of CALR, MPL W515K and JAK2 V617F genes in patients with primary thrombocythemia (PT).</p><p><b>METHODS</b>Fifty-six patients with PT were selected as the research objects in our hospital. The CALR and MPL W515K gene mutations were determined by genomic DNA-PCR direct sequencing of the PCR products, and the JAK2 V617F gene mutation was detected by allele specific PCR method.</p><p><b>RESULTS</b>Among the 56 patients with PT there were 14 cases of CALR gene mutation with the incidence rate of 25%, including 6 cases of type I, 5 cases of type II and 3 cases of type III. The sex, age, platelet(Plt) count, white blood cell (WBC) count and hemoglobin (Hb) level in the type I case of CALR gene mutation all were not significantly different from that in type II and III(all P>0.05); the WBC level in type III group significantly increased in comparison of type II group (P<0.05), while the sex, age, Hb and Plt levels showed no significant difference between the type III and type II groups (P>0.05). There were 3 cases of MPL W515K gene mutation with the incidence rate of 5.36%; 21 cases of JAK2 V617F gene mutation with the incidence rate of 37.50%. There were 13 cases of CALR gene mutation in negative patients with MPL W515K and JAK2 V617F (18 cases) with 72.22% incidence rate (13/18), and there was no cases of 1 or 2 gene mutations coexisted. The levels of Hb and WBC in peripheral blood of patients with CALR mutation were significantly lower than those of JAK2 V617F mutation (both P<0.05). In 56 cases, there were 3 cases of abnormal karyotype, with the incidence rate of 5.36%. The mutation rate of CALR gene in abnormal karyotypes (66.67%) was significantly higher than that of normal karyotypes (20.75%) (P<0.01).</p><p><b>CONCLUSION</b>The incidence of JAK2 V617F gene mutation increases in the patients with primary thrombocythemia; CALR mutation rate is higher in the patients with negative MPL W515K and JAK2 V617F gene mutation, which may closely correlate with abnormal karyotype; the levels of peripheral Hb and WBC in PT the patients with CALR gene mutation are significantly lower than those in patients with JAK2 V617F mutation.</p>


Subject(s)
Calreticulin , Humans , Janus Kinase 2 , Mutation , Mutation Rate , Receptors, Thrombopoietin , Thrombocythemia, Essential
20.
Journal of Experimental Hematology ; (6): 1122-1128, 2018.
Article in Chinese | WPRIM | ID: wpr-689518

ABSTRACT

<p><b>OBJECTIVE</b>To detect the JAK2, CALR and MPL gene mutations in patients with BCR/ABL1 negative chronic myeloproliferative diseases(BCR/ABL1-CMPD)and to evaluate their diagnostic value.</p><p><b>METHODS</b>Two hundred and eight cases of BCR/ABL1-CMPD comprising of 146 cases of essential thrombocythemia(ET), 37 cases of polycythemia vera(PV)and 25 cases of primary myelofibrosis(PMF)from March 2012 to December 2015 were enrolled in the BCR/ABL1-CMPD, while 124 cases of secondary thrombocythemia and 73 cases of secondary polycythemia were enrolled in the control group. The genomic DNA and total RNA Were isolated from bone marrow or peripheral blood, then the exons 12 to 20 of JAK2 gene, exon 10 of MPL gene and exons 3 to 9 of CALR gene were analyzed by using DNA sequencing.</p><p><b>RESULTS</b>among 146 ET patients, the JAK2, CALR or MPL mutations were found in: 138 cases(94.5%)including 86 cases with JAK2V617F mutation(58.9%)and 2 cases(1.4%)with exon 12 of JAK2 mutations. CALR mutations were detected in 41 cases(28.1%), among them type 1(c.1092_1143del)in 22 cases, type 2(c.1154_1155insTTGTC)in 11 cases, and type 5(c. 1091_1142del), type 8(c.1104_1137del), type 41(c.1107_1137del), type 42(c.1125_1125del)in one case respectively. In addition, 4 cases were detected withother mutations of the CALR gene(c.1107_1115del, c.1111_1144 del, c.1101 A>C, c.1112_1117del). Moreover, 9 cases harbored MPL mutations(6.2%). Secondly, 31 patients were detected with JAK2V617F mutation(83.8%)in 37 cases of PV, and JAK2 exon 12 mutations were found in 2 cases(5.4%). Besides, CALR mutations were detected in 2 cases(5.4%), including 1 case of type I, the other of novel mutation of CALR. Thirdly, 19 in 25 cases of PMF were detected with JAK2V617F mutation(76%), 2 cases with CALR mutations(8%). 4 patients(16%), JAK2, CALR or MPL mutations were not detected, but among them 3 cases were found harboring other genetic abnormalities. Fourthly, no mutations of JAK2, MPL and CALR genes were detected in 124 patients with secondary thrombocytosis and 73 cases with secondary polycythemia.</p><p><b>CONCLUSION</b>Combined detection of JAK2, CALR and MPL gene mutations can cover the vast majority of patients with BCR/ABL1-negative myeloproliferative neoplasms. For higher frequencies of the mutations of CALR in ET patients, CALR mutation can be used as a new diagnostic marker in ET patients with JAK2 and MPL wild type.</p>


Subject(s)
Calreticulin , Humans , Janus Kinase 2 , Mutation , Myeloproliferative Disorders , Polycythemia Vera , Receptors, Thrombopoietin , Thrombocythemia, Essential
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