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1.
Gan To Kagaku Ryoho ; 48(1): 63-67, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33468725

RESUMEN

OBJECTIVE: We investigate the current status of screening for essential thrombocythemia(ET)and polycythemia vera(PV), at our hospital. METHODS: According to the World Health Organization(WHO)diagnostic criteria. PATIENTS: All patients who visited Juntendo University Urayasu Hospital between May 1984(when the hospital opened)and January 2019. RESULT: More than 90% of patients with elevated platelet counts(PLT)(n=25,062)and more than 90% of patients with elevated hemoglobin( Hb)or hematocrit(Ht)levels(n=16,422)did not visit the department of hematology, suggesting that there could be a high percentage of patients with potentially latent ET and PV visiting the hospital. In addition, a large number of patients fulfilling the laboratory criteria for ET/PV visited various departments of the hospital other than the department of hematology. CONCLUSION: Because ET/PV manifests with diverse symptoms, including non-specific symptoms and symptoms pertaining to other organ systems. Based on the findings, we consider that it is essential to disseminate information about the WHO diagnostic criteria/clinical symptoms and possibility of latent ET/PV to all departments of the hospital, and to establish cooperation between the department of hematology and other departments.


Asunto(s)
Policitemia Vera , Trombocitemia Esencial , Humanos , Policitemia Vera/diagnóstico , Policitemia Vera/epidemiología , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/epidemiología
2.
J Stroke Cerebrovasc Dis ; 29(10): 105069, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32912497

RESUMEN

Hemorrhagic stroke associated with essential thrombocythemia (ET) is very infrequent. Herein, we report a case of a 33-year-old woman with a 2-year history of ET who developed intracerebral and subarachnoid hemorrhage. Angiography demonstrated severe vessel irregularity in the bilateral cerebral arteries. Molecular genetic testing revealed a calreticulin mutation. To our knowledge, hemorrhagic stroke has been reported in only six other patients with ET, and this is the first report of hemorrhagic stroke in an ET patient with a calreticulin mutation. We review the current literature and discuss the possible underlying mechanisms.


Asunto(s)
Hemorragia Cerebral/etiología , Accidente Cerebrovascular/etiología , Hemorragia Subaracnoidea/etiología , Trombocitemia Esencial/complicaciones , Adulto , Calreticulina/genética , Hemorragia Cerebral/diagnóstico por imagen , Hemorragia Cerebral/cirugía , Craneotomía , Femenino , Predisposición Genética a la Enfermedad , Humanos , Mutación , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico por imagen , Hemorragia Subaracnoidea/diagnóstico por imagen , Hemorragia Subaracnoidea/cirugía , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/genética , Resultado del Tratamiento
3.
Am J Hematol ; 95(12): 1599-1613, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32974939

RESUMEN

DISEASE OVERVIEW: Polycythemia vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms (MPN) respectively characterized by clonal erythrocytosis and thrombocytosis; other disease features include leukocytosis, splenomegaly, thrombosis, bleeding, microcirculatory symptoms, pruritus and risk of leukemic or fibrotic transformation. DIAGNOSIS: Bone marrow morphology remains the cornerstone of diagnosis. In addition, the presence of JAK2 mutation is expected in PV while approximately 90% of patients with ET express mutually exclusive JAK2, CALR or MPL mutations (so called driver mutations). In ET, it is most important to exclude the possibility of prefibrotic myelofibrosis. SURVIVAL: Median survivals are approximately 15 years for PV and 18 years for ET; the corresponding values for patients age 40 or younger were 37 and 35 years. Certain mutations (mostly spliceosome) and abnormal karyotype might compromise survival in PV and ET. Life-expectancy in ET is inferior to the control population. Driver mutations have not been shown to affect survival in ET but risk of thrombosis is higher in JAK2 mutated cases. Leukemic transformation rates at 10 years are estimated at <1% for ET and 3% for PV. THROMBOSIS RISK: In PV, two risk categories are considered: high (age > 60 years or thrombosis history present) and low (absence of both risk factors). In ET, four risk categories are considered: very low (age ≤ 60 years, no thrombosis history, JAK2 wild-type), low (same as very low but JAK2 mutation present), intermediate (age > 60 years, no thrombosis history, JAK2 wild-type) and high (thrombosis history present or age > 60 years with JAK2 mutation). RISK-ADAPTED THERAPY: The main goal of therapy in both PV and ET is to prevent thrombohemorrhagic complications. All patients with PV require phlebotomy to keep hematocrit below 45% and once-daily or twice-daily aspirin (81 mg), in the absence of contraindications. Very low risk ET might not require therapy while aspirin therapy is advised for low risk disease. Cytoreductive therapy is recommended for high-risk ET and PV, but it is not mandatory for intermediate-risk ET. First-line drug of choice for cytoreductive therapy, in both ET and PV, is hydroxyurea and second-line drugs of choice are interferon-α and busulfan. We do not recommend treatment with ruxolutinib in PV, unless in the presence of severe and protracted pruritus or marked splenomegaly that is not responding to the aforementioned drugs. NEW TREATMENT DIRECTIONS: Controlled studies are needed to confirm the clinical outcome value of twice-daily vs once-daily aspirin dosing and the therapeutic role of pegylated interferons and direct oral anticoagulants.


Asunto(s)
Aspirina/uso terapéutico , Busulfano/uso terapéutico , Interferón-alfa/uso terapéutico , Policitemia Vera , Trombocitemia Esencial , Factores de Edad , Aspirina/efectos adversos , Busulfano/efectos adversos , Calreticulina/genética , Supervivencia sin Enfermedad , Humanos , Interferón-alfa/efectos adversos , Janus Quinasa 2/genética , Mutación , Policitemia Vera/diagnóstico , Policitemia Vera/tratamiento farmacológico , Policitemia Vera/genética , Policitemia Vera/mortalidad , Receptores de Trombopoyetina/genética , Medición de Riesgo , Factores de Riesgo , Tasa de Supervivencia , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/tratamiento farmacológico , Trombocitemia Esencial/genética , Trombocitemia Esencial/mortalidad
5.
Clín. investig. arterioscler. (Ed. impr.) ; 32(3): 126-128, mayo-jun. 2020.
Artículo en Español | IBECS | ID: ibc-193358

RESUMEN

Presentamos el caso de un síndrome coronario agudo en un paciente de 30 años con trombocitemia esencial. Los síndromes coronarios agudos ocurren en el 9% de los casos en estos pacientes, y su manejo constituye todo un reto para el cardiólogo, en concreto, en cuanto a la elección del tratamiento antiagregante más adecuado y su duración, considerando que estos pacientes tienen por una parte un elevado riesgo trombótico y, además, un riesgo hemorrágico no despreciable


We present the case is presented of an acute coronary syndrome in a 30-year-old patient with essential thrombocythaemia. Acute coronary syndromes occur in 9% of cases in these patients, and their management constitutes a challenge for the cardiologist, specifically in terms of choosing the most appropriate antiplatelet therapy and its duration, taking into account that these patients have a high thrombotic risk, as well as a considerable haemorrhagic risk


Asunto(s)
Humanos , Masculino , Adulto , Síndrome Coronario Agudo/etiología , Trombocitemia Esencial/complicaciones , Inhibidores de Agregación Plaquetaria/administración & dosificación , Síndrome Coronario Agudo/terapia , Dolor en el Pecho/etiología , Ecocardiografía , Cateterismo Cardíaco , Trombocitemia Esencial/diagnóstico
6.
Georgian Med News ; (299): 143-146, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32242862

RESUMEN

The aim of the studywas to determine the risk of thrombosis among patients with Essential thrombocythemia based on the modern criteria of diagnosis and to reveal the treatment accordingmethods of research in Georgia. We analyzed clinical manifestations of 25 cases of Essential thrombocythemia diagnosed in 2013-2017 y. at the Institute of Hematology and Transfusiology. Among 25 patients, female was 20 (80%), male - 5 (20%). Age varies from 28 to 75 years. Patients had the following clinical manifestations: The severity of the lower limbs, numbness, pain (erythromelalgia) in 13 (52%) of cases, headache in 7 (28%), dizziness in 5 (20%), splenomegaly in 6 (24%), bleeding in 1 (4%), several discontinued pregnancy in the first trimester in 1 (4%), thrombotic complication had been diagnosed in 8 (32%) of patients. In 8 (32%) patients with thrombosis in medical history, myocardial infarction had 2 patient, ischemic stroke - 2 patient, deep vein thrombosis - 2 patient, thrombosis of spleen artery - 1 patient, door vein thrombosis -1 patients. Laboratory indicators for patients at the moment of diagnosis were as follows: Hemoglobin level was 120-160g/L, Erythrocytes-3,7-5,2x1012/L, Leukocytes-10,2-35,5x109/L, Platelets - 860,0-4300,05x109/L. Cytological study ofbone marrow revealed hyper cellular bone marrowwith neutrophilic profile. There are a large number of megakaryocites and their large clusters. In bone marrow biopsy bone and bone marrow structure is mainly stored. There is a hyperplasia of myeloid tissue, a sharp or moderate hyperplasia of megakaryocite. Sometimes weak fibrosis is expresseds (4 patients). JAK-2 genes can only be studied in 3 (12%) cases: in 2 (8%) cases, gene mutations were 48% and 52%, while the gene mutation with 1 (4%) patient was only 12%. Based on international multi-center studies by WHO experts group, the risk of thrombosis development was predictable (WHO-ET-IPSET-thrombosis). Based on our data, we have identified thrombotic risk groups as well as the criteria that contributed to the increased risk: these are more likely to have thrombotic complications in medical history, existence ofJAK-2gene mutation, lesser than age >60years, risk factors from the cardiovascular system (Diabetes mellitus,Hypertension, smoking). From the patients who were studied, 10 (40%) were in the high risk group of thrombosis, 3 (12%) in the average risk group and 12 (48%) in thelow risk group. The goal of treatment of Essential thrombocythemia is to stop the progression of the disease and cure the symptoms of the disease.The methods of treatment for improving the quality of life of patients are multi-component and are divided into the following groups: 1) Prophylaxis of thrombotic complications; 2) cytoreductionalchemothrapy; 3) targeted therapy- JAK-2kinase activity inhibitors; 4) treatment of complications.


Asunto(s)
Trombocitemia Esencial/complicaciones , Trombosis/etiología , Adulto , Anciano , Femenino , Georgia , Humanos , Hipertensión/complicaciones , Masculino , Persona de Mediana Edad , Calidad de Vida , Factores de Riesgo , Trombocitemia Esencial/diagnóstico
7.
Int J Hematol ; 112(2): 238-242, 2020 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32246278

RESUMEN

A 70-year-old male was referred to our hospital for marked thrombocytosis without anemia. The patient simultaneously presented with an MPL W515L mutation, one of the major driver mutations in essential thrombocythemia (ET), and deletion of 5q, a characteristic cytogenetic abnormality in myelodysplastic syndrome (MDS). Bone marrow examination showed a combination of both mature hyperlobulated megakaryocytes, as found in ET, and small hypolobulated megakaryocytes, typically found in MDS with del(5q). The present case is consistent with the recently proposed category of myeloid neoplasms with isolated del(5q) and an MPN driver mutation.


Asunto(s)
Mutación , Receptores de Trombopoyetina/genética , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/genética , Anciano , Deleción Cromosómica , Cromosomas Humanos Par 5/genética , Humanos , Masculino , Megacariocitos/patología , Síndromes Mielodisplásicos/diagnóstico , Síndromes Mielodisplásicos/genética , Síndromes Mielodisplásicos/patología , Trombocitemia Esencial/patología , Organización Mundial de la Salud
8.
BMC Cancer ; 20(1): 205, 2020 Mar 12.
Artículo en Inglés | MEDLINE | ID: mdl-32164591

RESUMEN

BACKGROUND: Classical MPNs including ET and PMF have a chronic course and potential for leukaemic transformation. Timely diagnosis is obligatory to ensure appropriate management and positive outcomes. The aim of this study was to determine the mutational profile, clinical characteristics and outcome of ET and PMF patients in Pakistani population. METHODS: This was a prospective observational study conducted between 2012 and 2017 at NIBD. Patients were diagnosed and risk stratified according to international recommendations. Response to treatment was assessed by IWG criteria. RESULTS: Of the total 137 patients analysed, 75 were ET and 62 were PMF. JAK2 positivity was seen in 51 cases (37.2%), CALR in 41 cases (29.9%), while triple-negative in 17 (12.4%) cases. None of the patients in the present study were MPL positive. Overall survival for patients with ET and PMF was 92.5 and 86.0% respectively and leukaemia free survival was 100 and 91.6% respectively, at a median follow-up of 12 months. Leukaemic transformation occurred in 6.5% of MF patients; among them, JAK2 mutation was frequently found. Molecular mutations did not influence the OS in ET whereas in PMF, OS was shortest in the triple-negative PMF group as compared to the JAK2 and CALR positive patient groups. CONCLUSION: This study shows a different spectrum of molecular mutations in ET and PMF patients in Pakistani population as compared to other Asian countries. Similarly, the risk of leukaemic transformation in ET and PMF is relatively lower in our population of patients. The factors responsible for these phenotypic and genotypic differences need to be analysed in large scale studies with longer follow-up of patients.


Asunto(s)
Calreticulina/genética , Análisis Mutacional de ADN/métodos , Janus Quinasa 2/genética , Mielofibrosis Primaria/diagnóstico , Receptores de Trombopoyetina/genética , Trombocitemia Esencial/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Progresión de la Enfermedad , Diagnóstico Precoz , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación , Pakistán , Mielofibrosis Primaria/genética , Estudios Prospectivos , Análisis de Supervivencia , Trombocitemia Esencial/genética , Adulto Joven
9.
Blood ; 135(12): 948-953, 2020 03 19.
Artículo en Inglés | MEDLINE | ID: mdl-31978223

RESUMEN

Mutations in the MPL gene encoding the human thrombopoietin receptor (TpoR) drive sporadic and familial essential thrombocythemias (ETs). We identified 2 ET patients harboring double mutations in cis in MPL, namely, L498W-H499C and H499Y-S505N. Using biochemical and signaling assays along with partial saturation mutagenesis, we showed that L498W is an activating mutation potentiated by H499C and that H499C and H499Y enhance the activity of the canonical S505N mutation. L498W and H499C can activate a truncated TpoR mutant, which lacks the extracellular domain, indicating these mutations act on the transmembrane (TM) cytosolic domain. Using a protein complementation assay, we showed that L498W and H499C strongly drive dimerization of TpoR. Activation by tryptophan substitution is exquisitely specific for position 498. Using structure-guided mutagenesis, we identified upstream amino acid W491 as a key residue required for activation by L498W or canonical activating mutations such as S505N and W515K, as well as by eltrombopag. Structural data point to a common dimerization and activation path for TpoR via its TM domain that is shared between the small-molecule agonist eltrombopag and canonical and novel activating TpoR mutations that all depend on W491, a potentially accessible extracellular residue that could become a target for therapeutic intervention.


Asunto(s)
Benzoatos/farmacología , Predisposición Genética a la Enfermedad , Hidrazinas/farmacología , Mutación , Pirazoles/farmacología , Receptores de Trombopoyetina/agonistas , Receptores de Trombopoyetina/genética , Trombocitemia Esencial/genética , Alelos , Sustitución de Aminoácidos , Línea Celular , Estudios de Asociación Genética , Humanos , Fenotipo , Transducción de Señal/efectos de los fármacos , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/metabolismo
10.
Eur J Haematol ; 104(3): 271-278, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31863513

RESUMEN

OBJECTIVE: To explore the relative importance of risk factors, treatments, and blood counts for the occurrence of vascular complications and their impact on life expectancy in essential thrombocythemia (ET) and polycythemia vera (PV). METHODS: Nested case-control study within the Swedish MPN registry. From a cohort of 922 ET patients and 763 PV patients, 71 ET and 81 PV cases with vascular complications were compared with matched controls. RESULTS: Incidence of vascular complications was 2.0 and 3.4 events per 100 patient-years in ET and PV, respectively. At diagnosis, no significant risk factor differences were observed between cases and controls in neither of the diseases. At the time of vascular event, ET complication cases did not differ significantly from controls but in PV, cases had significantly higher WBCs and were to a lesser extent treated with anti-thrombotic and cytoreductive therapy. Life expectancy was significantly decreased in both ET and PV cases compared with controls. CONCLUSIONS: The risk of vascular complications is high in both ET and PV, and these complications have a considerable impact on life expectancy. The protective effect of anti-thrombotic and cytoreductive therapy for vascular complications in PV underscores the importance of avoiding undertreatment.


Asunto(s)
Policitemia Vera/complicaciones , Policitemia Vera/mortalidad , Trombocitemia Esencial/complicaciones , Trombocitemia Esencial/mortalidad , Enfermedades Vasculares/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Policitemia Vera/diagnóstico , Policitemia Vera/epidemiología , Vigilancia en Salud Pública , Sistema de Registros , Suecia/epidemiología , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/epidemiología , Enfermedades Vasculares/diagnóstico , Enfermedades Vasculares/epidemiología , Adulto Joven
12.
Ann Thorac Cardiovasc Surg ; 26(5): 290-293, 2020 Oct 21.
Artículo en Inglés | MEDLINE | ID: mdl-29925725

RESUMEN

We present the case of a 61-year-old patient with a history of essential thrombocythemia (ET) who was diagnosed as having aortic valve stenosis and dilatation of his ascending aorta. His aortic valve and ascending aorta were replaced under hypothermic circulatory arrest (HCA). No clear guideline exists for preoperative, perioperative, and postoperative management of cardiac surgery using HCA for ET patients. After performing risk assessment, we prescribed preoperative aspirin therapy and postoperative care was planned as usual for cardiovascular surgery in our establishment. Unexpectedly, activated clotting time did not exceed 400 seconds, but the course of treatment was otherwise uneventful.


Asunto(s)
Aneurisma de la Aorta/cirugía , Estenosis de la Válvula Aórtica/cirugía , Válvula Aórtica/patología , Implantación de Prótesis Vascular , Calcinosis/cirugía , Paro Cardíaco Inducido , Implantación de Prótesis de Válvulas Cardíacas , Hipotermia Inducida , Trombocitemia Esencial/complicaciones , Anticoagulantes/uso terapéutico , Aneurisma de la Aorta/complicaciones , Aneurisma de la Aorta/diagnóstico por imagen , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/cirugía , Estenosis de la Válvula Aórtica/complicaciones , Estenosis de la Válvula Aórtica/diagnóstico por imagen , Calcinosis/complicaciones , Calcinosis/diagnóstico por imagen , Humanos , Masculino , Persona de Mediana Edad , Inhibidores de Agregación Plaquetaria/uso terapéutico , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/tratamiento farmacológico , Resultado del Tratamiento
13.
Platelets ; 31(3): 365-372, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31240987

RESUMEN

Essential thrombocythemia (ET) is characterized by persistently elevated platelet counts and an increased risk of thromboembolic events. Dysregulated expression of small noncoding microRNAs (miRNAs) have been shown in ET and may influence platelet maturity and function in ET patients. In this study, we included 22 ET patients and 19 healthy controls to investigate the expression of 12 platelet miRNAs previously reported to be dysregulated in ET. Further, we investigated the correlation between the expression of selected miRNAs and platelet maturity and platelet function. Total RNA was isolated from platelets, and expression analyses were performed using TaqMan quantitative PCR (qPCR). Mean platelet volume (MPV) and immature platelet count and -fraction (IPC and IPF) were measured using the Sysmex XE-5000 automated haematology system. Platelet function was investigated by multiple electrode aggregometry (agonists: arachidonic acid (AA), thrombin-receptor-activating-peptide (TRAP) and adenosine diphosphate (ADP)), while platelet activation was determined by multi-colour flow cytometry (antibodies: bound-fibrinogen, CD63 and P-selectin (CD62p), agonists: AA, TRAP and ADP). We showed that miR-9 and miR-490 were significantly upregulated in ET patients compared with healthy controls (p-values < 0.01), while miR-10a, miR-28, miR-126, miR-155, miR-221, miR-222, miR-223 and miR-431 were significantly downregulated in ET patients (all p-values < 0.001). A significant positive correlation was observed between miR-431 and MPV, IPC and IPF (all p-values < 0.05). The expression of miR-126 was negatively correlated with platelet aggregation induced by AA and TRAP (p < 0.05). In addition, we found the expression of miR-9 and miR-490 to be negatively correlated with the percentage of fibrinogen-, CD63- and P-selectin- positive platelets using TRAP as agonist (p < 0.05). In conclusion, our data indicate that platelet microRNAs may play a role in ET and that specific microRNAs are correlated with platelet maturity and platelet function.


Asunto(s)
Plaquetas/citología , Plaquetas/metabolismo , Diferenciación Celular/genética , Regulación de la Expresión Génica , MicroARNs/genética , Trombocitemia Esencial/genética , Trombocitemia Esencial/metabolismo , Biomarcadores , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Mutación , Activación Plaquetaria/genética , Agregación Plaquetaria/genética , Recuento de Plaquetas , Pruebas de Función Plaquetaria , Interferencia de ARN , Trombocitemia Esencial/diagnóstico , Trombopoyesis/genética
14.
Sci Rep ; 9(1): 19838, 2019 12 27.
Artículo en Inglés | MEDLINE | ID: mdl-31882869

RESUMEN

Suspicion of myeloproliferative neoplasms (MPNs) and especially essential thrombocythemia (ET) in primary care is often based solely on blood counts, with patients referred to a haematologist without a thorough evaluation. We retrospectively assessed the role of calreticulin gene (CALR) mutations in the diagnosis of MPN in this population. We studied CALR mutations in 524 JAK2 V617F-negative patients with suspected MPN. Uncommon CALR mutations were confirmed by Sanger sequencing and searched for in the COSMIC or HGMD database. Mutations were defined as frameshift or non-frameshift mutations. CALR mutations were detected in 23 patients (23/524 = 4.4%). Four mutations detected in our study were newly identified mutations. Non-frameshift mutations were detected in two patients. Most patients (380/524 = 72.5%) were diagnosed with secondary conditions leading to blood count abnormalities such as iron deficiency, inflammatory and infectious diseases, malignancy and hyposplenism. Nine patients (9/23 = 39%) were retrospectively diagnosed with ET based on CALR mutation confirmation. Two patients with non-frameshift CALR mutations were diagnosed with reactive thrombocytosis and MPN unclassifiable, respectively. Our study showed that CALR mutations are important, non-invasive diagnostic indicators of ET and can aid in its diagnosis. Moreover, the type of CALR mutation must be accurately defined, as non-frameshift mutations may not be associated with ET. Finally, CALR mutation detection should be reserved for patients with high suspicion of clonal haematological disease.


Asunto(s)
Calreticulina/genética , Janus Quinasa 2/genética , Mutación , Trastornos Mieloproliferativos/genética , Trombocitemia Esencial/genética , Adulto , Calreticulina/clasificación , Calreticulina/metabolismo , Estudios de Cohortes , Análisis Mutacional de ADN/métodos , Femenino , Pruebas Genéticas/métodos , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/genética , Neoplasias Hematológicas/metabolismo , Humanos , Janus Quinasa 2/metabolismo , Masculino , Persona de Mediana Edad , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/metabolismo , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/metabolismo
16.
Harefuah ; 158(11): 737-741, 2019 Nov.
Artículo en Hebreo | MEDLINE | ID: mdl-31721518

RESUMEN

INTRODUCTION: The understanding of the basic molecular mechanisms of myeloproliferative neoplasms in the last few years led to updating of their diagnostic criteria in the recent classification of myeloid and lymphoid neoplasms by the WHO, which was published in 2017. The major changes relating to the diagnosis of myeloproliferative neoplasms include lowering of the hemoglobin threshold and mandatory bone marrow biopsy as major criteria for the diagnosis of polycythemia vera, as well as adding acquired mutation in either CALR or MPL in addition to the common JAK2V617F mutation as a major criterion for diagnosing essential thrombocythemia or myelofibrosis. We review the newest discoveries on the pathogenesis of myeloproliferative neoplasms, highlighting the relevant new additions to their diagnostic criteria, and relevant therapeutic considerations.


Asunto(s)
Trastornos Mieloproliferativos , Policitemia Vera , Trombocitemia Esencial , Calreticulina/genética , Humanos , Janus Quinasa 2/genética , Mutación , Trastornos Mieloproliferativos/diagnóstico , Trastornos Mieloproliferativos/genética , Policitemia Vera/diagnóstico , Policitemia Vera/genética , Trombocitemia Esencial/diagnóstico , Trombocitemia Esencial/genética
18.
Hinyokika Kiyo ; 65(7): 315-317, 2019 Jul.
Artículo en Japonés | MEDLINE | ID: mdl-31501399

RESUMEN

A 71-year-old man visited a local urologist with the complaint of continuous painful erection for three days. Penile cavernosal blood data showed acidosis and hypoxia. Thus he was diagnosed with ischemic priapism. After penile aspiration and injection of phenylephrine, erection was temporary improved. The blood platelet count was 94.5×104/µl and myeloproliferative disease was suspected. He was referred to our hospital and visited us the following day. Since priapism relapsed, we aspirated corpus cavernosum of the penis and injected phenylephrine which was successful. A bone marrow biopsy and genetic test were performed at the department of hematology and the diagnosis of essential thrombocythemia with JAK2 gene mutation was confirmed. By treatment with hydroxyurea, the blood platelet count decreased without priapism recurrence.


Asunto(s)
Priapismo , Trombocitemia Esencial , Anciano , Humanos , Masculino , Erección Peniana , Pene , Fenilefrina , Priapismo/complicaciones , Priapismo/diagnóstico , Trombocitemia Esencial/complicaciones , Trombocitemia Esencial/diagnóstico
19.
Skinmed ; 17(3): 204-205, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31496479

RESUMEN

A 64-year-old man was referred to our department due to painful ulcers on the right leg that had evolved over the previous 6 months. There was also progressive weight loss. He had no relevant medical history. Clinically, we observed multiple ulcers, some of them with a necrotic base, located over the medial malleolus and calcaneus (Figures 1 and 2), with an associated livedoid appearance of the dorsum of the feet. A skin biopsy revealed epidermis with ulceration. The superficial and deep dermis showed perivascular and interstitial neutrophilic inflammatory infiltrate, with fibrinoid necrosis of the vessels as well as leukocytoclasia (Figure 3). Blood analysis showed significant thrombocytosis (1128×106 per µL) and leukocytosis (21.38×106 per µL). The autoimmune study showed no abnormalities. Abdominal ultrasound showed hepatosplenomegaly. The patient was seen in the hematology department, and a bone marrow biopsy was obtained that was compatible with essential thrombocythemia (ET). The patient had a karyotype that showed no metaphases, and was BCR-ABL-negative and JAK2-positive. He started treatment with α-interferon 1.8 million units, three times per week. Daily polyacrylate wound dressing was carried out to debride the skin lesions, and there was gradual improvement of the ulcers (Figure 4).


Asunto(s)
Úlcera de la Pierna/etiología , Trombocitemia Esencial/complicaciones , Trombocitemia Esencial/diagnóstico , Humanos , Factores Inmunológicos/uso terapéutico , Interferón-alfa/uso terapéutico , Úlcera de la Pierna/terapia , Masculino , Persona de Mediana Edad , Trombocitemia Esencial/tratamiento farmacológico
20.
Eur J Haematol ; 103(6): 573-577, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31479555

RESUMEN

BACKGROUND: To make a definite diagnosis of essential thrombocytosis (ET) from reactive thrombocytosis (RT), the most reliable criteria are the presence of driver mutations, namely JAK2, CALR, or MPL gene mutations. In the absence of these driver mutations, so-called triple-negative ET, the differential diagnosis could be difficult. Although bone marrow biopsy could be helpful, it may be difficult in some cases, to do gene sequence analysis to identify other clonal marker gene mutations than the driver mutations, as only very few were found. METHODS: IGF-1R quantification by flow cytometry in mononuclear cells (MNC) from peripheral blood was performed in 33 patients with ET (untreated or off treatment with hydroxyurea), 28 patients with RT, and 16 normal volunteer controls. RESULTS: We found IGF-1R levels were significantly elevated in ET patients compared to RT patients or controls. A cutoff value of 253 was chosen from the logistic regression to predict each patient's group, a value ≥253 meant that a patient belonged to the ET group (sensitivity 96.4% and specificity 68.6%). CONCLUSION: We suggest that adding quantification of IGF-1R in blood MNC by flow cytometry is useful in differentiating ET from RT.


Asunto(s)
Citometría de Flujo , Receptor IGF Tipo 1/sangre , Trombocitemia Esencial/sangre , Trombocitemia Esencial/diagnóstico , Adulto , Anciano , Anciano de 80 o más Años , Biopsia , Médula Ósea/metabolismo , Médula Ósea/patología , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Trombocitemia Esencial/genética , Trombocitemia Esencial/patología
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