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Background: Among the chronic myeloproliferative neoplasms (MPNs) not associated with BCR-ABL mutations are polycythemia vera, primary myelofibrosis, and essential thrombocythemia. These diseases are caused by mutations in genes, such as the JAK2, MPL, and CALR genes, which participate in regulating the JAK-STAT signaling pathway. Objective: This study aimed to establish the frequencies of mutations in the JAK2, MPL, and CALR genes in a group of Colombian patients with a negative clinical diagnosis of BCR-ABL chronic myeloproliferative neoplasms. Methods: The JAK2 V617F and MPL W515K mutations and deletions or insertions in exon 9 of the CALR gene were analyzed in 52 Colombian patients with polycythemia vera, primary myelofibrosis, and essential thrombocythemia. Results: The JAK2V617F mutation was carried by 51.9% of the patients, the CALR mutation by 23%, and the MPL mutation by 3.8%; 23% were triple-negative for the mutations analyzed. In these neoplasms, 6 mutation types in CALR were identified, one of which has not been previously reported. Additionally, one patient presented a double mutation in both the CALR and JAK2 genes. Regarding the hematological results for the mutations, significant differences were found in the hemoglobin level, hematocrit level, and platelet count among the three neoplasms. Conclusion: Thus, this study demonstrates the importance of the molecular characterization of the JAK2, CALR and MPL mutations in Colombian patients (the genetic context of which remains unclear in the abovementioned neoplasms) to achieve an accurate diagnosis, a good prognosis, adequate management, and patient survival.

Antecedentes: Entre las neoplasias mieloproliferativas crónicas no asociadas con mutaciones BCR-ABL se encuentran la policitemia vera, la mielofibrosis primaria y la trombocitemia esencial. Estas enfermedades están causadas por mutaciones en genes, como los genes JAK2, MPL y CALR, que participan en la regulación de la vía de señalización JAK-STAT. Objetivo: Establecer las frecuencias de mutaciones en los genes JAK2, MPL y CALR en un grupo de pacientes colombianos con diagnóstico clínico negativo de NMP BCR-ABL. Metodos: Se analizaron las mutaciones y deleciones o inserciones JAK2 V617F y MPL W515K en el exón 9 del gen CALR en 52 pacientes colombianos con policitemia vera, mielofibrosis primaria y trombocitemia esencial. Resultados: La mutación JAK2V617F la portaban el 51.9% de los pacientes, la mutación CALR el 23.0% y la mutación MPL el 3.8%; El 23.0% fueron triple negativos para las mutaciones analizadas. En estas neoplasias se identificaron seis tipos de mutación en CALR, uno de los cuales no ha sido reportado previamente. Además, un paciente presentó una doble mutación tanto en el gen CALR como en el JAK2. En cuanto a los resultados hematológicos para las mutaciones, se encontraron diferencias significativas en el nivel de hemoglobina, el nivel de hematocrito y el recuento de plaquetas entre las tres neoplasias. Conclusiones: Así, este estudio demuestra la importancia de la caracterización molecular de las mutaciones JAK2, CALR y MPL en pacientes colombianos (cuyo contexto genético aún no está claro en las neoplasias antes mencionadas) para lograr un diagnóstico certero, un buen pronóstico, un manejo adecuado y una mejoría del paciente. supervivencia.

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Se describe el caso clínico de una paciente de 67 años de edad con varias comorbilidades, entre ellas la policitemia vera, quien acudió al Cuerpo de Guardia del Hospital Clinicoquirúrgico Universitario Dr. Ambrosio Grillo Portuondo de Santiago de Cuba por presentar síntomas y signos de un síndrome de abdomen agudo oclusivo. Se indicó intervención quirúrgica de urgencia, que permitió confirmar el diagnóstico presuntivo de afección vascular mesentérica de tipo trombótica. La inmediatez del tratamiento quirúrgico, la reversibilidad del daño vascular sin necesidad de procedimiento de resección intestinal y la administración efectiva de anticoagulantes permitieron una evolución favorable y sin complicaciones.

The case report of a 67 years patient with several comorbidities is described, among them polycythemia vera, who went to the emergency room of Ambrosio Grillo Portuondo University Clinical Surgical Hospital in Santiago de Cuba due to symptoms and signs of a syndrome of occlusive acute abdomen. An emergency surgical intervention was indicated, that confirmed the presumptive diagnosis of mesenteric vascular thrombosis. The immediacy of the surgical treatment, the reversibility of the vascular damage without necessity of intestinal resection procedure and the effective use of anticoagulants allowed a favorable clinical course without complications.

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Purpose:To assess whether subjects with Philadelphia negative myeloproliferative neoplasms (Ph-MPNs) show differences in the presence of vascular, cardiac or renal target organ damage (TOD) and other vascular function parameters as compared to individuals without this condition.Methods:An observational study was conducted. Fifty-seven subjects diagnosed with Ph-MPNs used as cases and 114 subjects without Ph-MPNs as controls. We matched the subjects with and without Ph-MPNs using the propensity scores in a 1:2 ratio using the variables gender, type 2 diabetes mellitus, high blood pressure, hyperlipidaemia and smoking. Vascular, cardiac and renal TOD were established according to the criteria of the European Society of Hypertension and Cardiology guidelines. Arterial stiffness was also assessed using the cardio-ankle vascular index (CAVI).Results:Mean age was 63.50±11.70 and 62.90±8.32 years in subjects with and without Ph-MPNs, 32 females (56%) in the first group and 62 (54%) in the second. Subjects with Ph-MPNs have a higher percentage of carotid injury than subjects without Ph-MPNs (35.1% vs. 21.1%) and higher albumin/creatinine ratio. In the logistic regression analysis, subjects with Ph-MPNs had an OR=2.382 (IC95% 1.066–5.323) for carotid injury versus those without haematological disease.Conclusions:Subjects with Ph-MPNs have twice the risk of by carotid injury than those without haematological disease. (AU)

Objetivo:Evaluar si los sujetos con neoplasias mieloproliferativas Filadelfia negativos (NMPs-FN) muestran diferencias en cuanto a presencia de lesión de órgano diana (LOD) vascular, cardiaca o renal y en otros parámetros de función vascular con respecto a los individuos sin esta patología.Métodos:Se realizó un estudio observacional. Se incluyeron 57 sujetos con diagnóstico de NMPs-FN utilizados como casos y 114 sujetos sin NMPs-FN como controles. Emparejamos a los sujetos con y sin NMPs-FN con la técnica de Propensity Score en la proporción 1:2, utilizando las variables sexo, diabetes mellitus tipo2, hipertensión arterial, hiperlipemia y consumo de tabaco. La LOD vascular, cardiaca y renal se estableció siguiendo los criterios de las guías de las sociedades europeas de hipertensión y cardiología. La rigidez arterial también se evaluó con el índice vascular corazón-tobillo (CAVI).Resultados:La edad media fue de 63,50±11,70 y 62,90±8,32 años en los sujetos con y sin NMPs, 32 mujeres (56%) en el primer grupo y 62 (54%) en el segundo. Los sujetos con NMPs-FN tienen un mayor porcentaje de lesión carotídea que los sujetos sin NMPs-FN (35,1% frente al 21,1%) y un mayor ratio albúmina/creatinina. En el análisis de regresión logística, los sujetos con NMPs-FN tenían un OR=2,382 (IC95%: 1,066 a 5,323) para la lesión carotídea frente a los que no presentaban enfermedad hematológica.Conclusiones:Los sujetos con NMPs-FN presentan el doble de riesgo de lesión de órgano diana vascular que los sujetos que no presentaban enfermedad hematológica. (AU)

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Objetivos: Describir la proporción de pacientes con policitemia vera (PV) o trombocitemia esencial (TE) y trombosis previa al diagnóstico que presentaban eritrocitosis o trombocitosis antes de la trombosis. Pacientes y métodos: Revisión retrospectiva de 63 pacientes con PV y 130 con TE. Resultados: En PV, encontramos eritrocitosis previa en 7 (11,1%) de los 17 casos (27%) con trombosis previa al diagnóstico. En TE, encontramos trombocitosis previa en 10 (7,7%) de los 25 casos (19,2%) con trombosis previa al diagnóstico. La mediana de tiempo entre el hallazgo analítico y la trombosis fue de 8,2 meses y 11,8 meses para PV y TE, respectivamente. En ambas entidades, los pacientes con trombosis previa al diagnóstico tenían una supervivencia significativamente menor. Conclusión: Una proporción significativa de pacientes con trombosis previa al diagnóstico de PV y TE presenta eritrocitosis o trombocitosis previa al episodio de trombosis, lo que permitiría anticipar el diagnóstico y el tratamiento (AU)

Objectives: This work aims to describe the proportion of patients with polycythemia vera (PV) or essential thrombocythemia (ET) and thrombosis prior to the diagnosis who had erythrocytosis or thrombocytosis prior to thrombosis. Patients and methods: This is a retrospective review of 63 patients with PV and 130 with ET. Results: In regard to PV, we found prior erythrocytosis in 7 (11.1%) of the 17 cases (27%) with thrombosis prior to diagnosis. In ET, we found prior thrombocytosis in 10 (7.7%) of the 25 cases (19.2%) with thrombosis prior to diagnosis. The median time between the laboratory finding and thrombosis was 8.2 months and 11.8 months for PV and TE, respectively. In both entities, patients with thrombosis prior to diagnosis had significantly lower survival. Conclusion: A significant proportion of patients with thrombosis prior to the diagnosis of PV and ET present erythrocytosis or thrombocytosis prior to the episode of thrombosis. This could allow for anticipating diagnosis and treatment (AU)

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Polycythemia vera (PV) is mainly characterized by erythrocytosis, thrombotic and hemorrhagic predisposition, a variety of symptoms, and cumulative risks of fibrotic progression and/or leukemic evolution over time. The diagnosis is made based on the 2016 WHO criteria. The treatment of PV focuses on rapidly reducing the erythrocyte mass, either by means of phlebotomies or with cytoreductive treatment, and the reduction of thrombotic risk by correcting cardiovascular risk factors and the use of platelet antiaggregants.

La policitemia vera (PV) se caracteriza principalmente por eritrocitosis, predisposición trombótica y hemorrágica, una variedad de síntomas y riesgos acumulativos de progresión fibrótica y/o evolución leucémica a lo largo del tiempo. El diagnóstico se realiza con base en los criterios de la Organización Mundial de la Salud del 2016. El tratamiento de la PV se centra en reducir rápidamente la masa eritrocitaria, ya sea por medio de flebotomías o con tratamiento citorreductor, y la disminución del riesgo trombótico mediante la corrección de factores de riesgo cardiovascular y el uso de antiagregantes plaquetarios.

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OBJECTIVES: This work aims to describe the proportion of patients with polycythemia vera (PV) or essential thrombocythemia (ET) and thrombosis prior to the diagnosis who had erythrocytosis or thrombocytosis prior to the thrombosis. PATIENTS AND METHODS: This is a retrospective review of 63 patients with PV and 130 with ET. RESULTS: In regard to PV, we found prior erythrocytosis in 7 (11.1%) of the 17 cases (27%) with thrombosis prior to diagnosis. In ET, we found prior thrombocytosis in 10 (7.7%) of the 25 cases (19.2%) with thrombosis prior to diagnosis. The median time between the laboratory finding and thrombosis was 8.2 months and 11.8 months for PV and TE, respectively. In both entities, patients with thrombosis prior to diagnosis had significantly lower survival. CONCLUSION: A significant proportion of patients with thrombosis prior to the diagnosis of PV and ET present with erythrocytosis or thrombocytosis prior to the episode of thrombosis. This could allow for anticipating diagnosis and treatment.

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PURPOSE: To assess whether subjects with Philadelphia negative myeloproliferative neoplasms (Ph-MPNs) show differences in the presence of vascular, cardiac or renal target organ damage (TOD) and other vascular function parameters as compared to individuals without this condition. METHODS: An observational study was conducted. Fifty-seven subjects diagnosed with Ph-MPNs used as cases and 114 subjects without Ph-MPNs as controls. We matched the subjects with and without Ph-MPNs using the propensity scores in a 1:2 ratio using the variables gender, type 2 diabetes mellitus, high blood pressure, hyperlipidaemia and smoking. Vascular, cardiac and renal TOD were established according to the criteria of the European Society of Hypertension and Cardiology guidelines. Arterial stiffness was also assessed using the cardio-ankle vascular index (CAVI). RESULTS: Mean age was 63.50±11.70 and 62.90±8.32 years in subjects with and without Ph-MPNs, 32 females (56%) in the first group and 62 (54%) in the second. Subjects with Ph-MPNs have a higher percentage of carotid injury than subjects without Ph-MPNs (35.1% vs. 21.1%) and higher albumin/creatinine ratio. In the logistic regression analysis, subjects with Ph-MPNs had an OR=2.382 (IC95% 1.066-5.323) for carotid injury versus those without haematological disease. CONCLUSIONS: Subjects with Ph-MPNs have twice the risk of by carotid injury than those without haematological disease.

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Introducción: Con la matriz de riesgo se identifican las medidas de control relevantes. El análisis de modos y efectos de fallo posterga definir la efectividad de las medidas correctivas. El uso de uno solo de estos métodos limita el alcance al evaluar los riesgos y la toma de decisiones. Objetivos: Determinar la contribución individual de las causas básicas de fallo en el riesgo radiológico de la radiosinoviortesis y el tratamiento mielosupresor de la policitemia vera, a partir del modelo de la matriz y los reportes. Métodos: Se adaptó el análisis de la gestión de la calidad en radioterapia a las prácticas en estudio y la selección individual de las causas básicas más contribuyentes al riesgo radiológico. La base internacional de incidentes aportó las causas que completaron el listado de las derivadas de la aplicación del principio de Pareto. Resultados: Los subprocesos más contribuyentes al riesgo fueron, por orden de importancia, la administración del radiofármaco, su preparación y la prescripción clínica. Para estos se identificaron las etapas, modos de fallo y sus causas más importantes. Existieron causas que contribuyeron a varios modos de fallo. El incumplimiento de procedimientos, protocolos o prácticas, la falta de entrenamiento del personal y la fatiga del personal son las causas de los riesgos identificados. Conclusiones: Se caracterizó la efectividad de las medidas correctivas de las causas más contribuyentes, las que se adicionan a las derivadas de la matriz, en el plan de mejora en la radiosinoviortesis y el tratamiento mielosupresor de la policitemia vera en Cuba(AU)

Introduction: The risk matrix identifies the relevant control measures. Failure modes and effects analysis postpones defining the effectiveness of corrective measures. Using just one of these methods limits the scope when assessing risks and making decisions. Objectives: To determine the individual contribution of the basic causes of failure in the radiological risk of radiosynoviorthesis and the myelosupressor treatment of polycythemia vera, based on the matrix model and the reports. Methods: The analysis of quality management in radiotherapy was adapted to the practices under study and the individual selection of the basic causes most contributing to radiological risk. The international incident base provided the causes that completed the list of those derived from the application of the Pareto principle. Results: The sub-processes that contributed the most to risk were, in order of importance, the administration of the radiopharmaceutical, its preparation and the clinical prescription. For these, the most important, stages, failure modes and their causes were identified. There were causes that contributed to various failure modes. Non-compliance with procedures, protocols or practices, lack of staff training and staff fatigue are the causes of the identified risks. Conclusions: The effectiveness of the corrective measures of the most contributing causes, which are added to those derived from the matrix, was characterized in the improvement plan in radiosynoviorthesis and myelosupressor treatment of polycythemia vera in Cuba(AU)

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Therapeutic erythrocytapheresis (TE) is a more efficient strategy compared to phlebotomy to deplete levels of haematocrit in primary and secondary erythrocytosis. OBJECTIVE: To analyse response rate and safety profile of TE in polycythemia vera (PV) and secondary erythrocytosis (SE). PATIENTS AND METHOD: Retrospective review of all patients with PV or SE treated with TE, due to phlebotomy failure, or comorbidities that prevented changes of blood volumen. RESULTS: 217 TE sessions (48 PV and 79 SE) corresponding to 20 patients (12 ES and 8 PV). Response were achieved in 87.5% of PV patients and in 50% of SE patients. Adverse effects related to TE performance occurred in 7.08%. CONCLUSION: Despite our small sample size and the heterogeneous nature of the patients included, we can postulate that TE is a secure strategy that can achieve haematocrit depletion in a shorter time than phlebotomy, specifically in PV patients and in selected cases of SE with expected haemodynamic intolerance to phlebotomies or in patients who fail to respond to phlebotomies.

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INTRODUCTION: Acute coronary syndromes (ACS) mostly occur in patients with traditional risk factors. Especially in young adults without major cardiovascular (CV) risk factors, one of the less common causes of ACS is myeloproliferative neoplasms (MPNs). METHODS: We retrospectively collected data on 11 consecutive patients (nine men, two women, mean age 40.18±8.4 years) with a diagnosis of MPN who presented with ACS. The demographic characteristics of the study population, type of MPN, clinical manifestations, location of myocardial infarction (MI), coronary angiography findings, complete blood count and other related findings, and treatment strategy before and after diagnosis were analyzed. RESULTS: Six patients were diagnosed with polycythemia vera, four with essential thrombocytosis and one with primary myelofibrosis. A JAK2 mutation was found in nine patients. Mean time to diagnosis of MPN was 2.81 years after presenting ACS and mean age at first MI was 32.9±6 years. Six patients had no major CV risk factors. Ten patients had anterior MI and one had inferior MI. After initiation of specific treatment for MPN, no recurrent thrombotic events were observed in a mean follow-up of 4±2.44 years. CONCLUSIONS: In young adults presenting with ACS, MPNs should be considered, especially in the absence of atherosclerotic coronary artery lesions. It is also important to pay attention to blood cell count abnormalities seen in intracoronary thrombotic events. Early diagnosis and treatment of MPNs is essential to prevent recurrence of thrombotic events and may reduce mortality and morbidity related to thrombotic complications.

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Introducción: La aplicación del método de la matriz de riesgo para la evaluación del riesgo radiológico en la medicina permite identificar de manera proactiva debilidades en las etapas del proceso y hacer un plan de acciones de mejora para la seguridad y calidad. Objetivo: Evaluar los riesgos radiológicos de la radiosinoviortesis y el tratamiento mielosupresor con Fósforo-32 de la policitemia vera. Método: Se utilizó el método de matriz de riesgo y se realizó el análisis y tratamiento de los riesgos radiológicos por medio del código cubano SECURE-MR-FMEA 3.0. Resultados: El 17 por ciento del riesgo alto se eliminó con las medidas adicionales adoptadas; predominaron las consecuencias medias para los trabajadores y el público, 30 por ciento y el 14 por ciento, respectivamente. Las defensas más importantes fueron: levantamiento radiológico inicial de las áreas del departamento; revisión independiente del proyecto con las regulaciones de seguridad aplicables; inspección de trabajos de construcción civil y montaje de equipos antes de iniciar la operación del departamento; capacitación de los médicos nucleares en los tratamientos; existencia de protocolos de tratamiento; análisis de lecciones aprendidas de incidentes radiológicos; levantamiento radiológico periódico de las áreas del servicio y procedimiento de emergencia para reducir la dosis en órganos críticos en caso de administración errónea de radiofármacos. Se creó una base de datos de incidentes utilizada como referencia para el modelo utilizado. El factor humano fue la causa mayor de los sucesos radiológicos analizados (88 por ciento). Conclusiones: Estos resultados facilitan la toma de decisiones para el mejor desempeño de la radiosinoviortesis y el tratamiento de la policitemia vera con Fósforo-32 en Cuba. Se sugiere elaborar el plan de mejora de la seguridad con especial atención a las operaciones de administración del radiofármaco en ambos casos.(AU)

Introduction: The application of risk matrix for ionizing radiation medicine allow identify in proactive way the weakness of the process' step, which implies in the design of safety and quality improvement plan for this. Method: Risk matrix method applied for radiosynoviorthesis and the myelosupressor treatment with Phosphorus-32 of polycythemia vera. The Cuban code SECURE-MR-FMEA 3.0 is used. Results: It was eliminated the 17 percent of the high risk with additional measures, and the medium consequences for workers and public are 30 percent and 14 percent, respectively. The most important identified safety measures were the initial radiological monitoring from different nuclear medicine department areas; the project revision based on the applicable safety regulations; a survey of civil construction works and equipment assembly before work began; training of nuclear medicine doctors in related aspects of nuclear medicine treatments; existence of treatment protocols; the analysis of learned lessons from radiological incidents; the periodical radiological monitoring from different services areas and the emergency procedure for the cases of mistake in the radiopharmaceuticals administration. Human factor was the major cause in analyzed radiological events (88 percent). Conclusions: These results facilitate taking decisions for the best performance of radiosynoviorthesis and the myelosupressor treatment with Phosphorus-32 of polycythemia vera in Cuba. It is recommended to elaborate the safety improvement plan from these and focussing in the radiopharmaceutical administration operations in both cases.(AU)

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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).

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OBJECTIVES: To analyse the possible correlation between molecular changes in the JAK2, MPL and CALR genes, the morphological pattern of bone marrow and the clinical-haematologic profile of patients. PATIENTS AND METHODS: We conducted a retrospective study that included 140 patients diagnosed with Philadelphia-negative myeloproliferative neoplasia (Ph-MPN) in a single centre. RESULTS: In essential thrombocythaemia (ET), the patients with the JAK2 V617F mutation presented more leucocytes and neutrophils than patients who presented the CALR mutation, who had more platelets and a greater need for cytoreductive therapy. These findings support the fact that the mutational state in ET appears to define subtypes of patients with substantially different clinical courses and prognoses. In myelofibrosis, the mutational state appears to influence the histopathological changes found in the bone marrow biopsy, which did not occur in polycythaemia vera or ET.

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Introducción: los desórdenes mieloproliferativos como la Policitemia vera (PV) pertenecientes al grupo clásico filadelfia negativo, son un área de la hematología que requiere un acercamiento de mayor profundidad, de modo que sea posible ofrecer un abordaje clínico, diagnóstico y terapéutico de carácter amplio, pertinente y actualizado.Así será factible ofrecer alternativas a individuos que no responden a un tratamiento convencional. Objetivo: recoger los elementos clínicos característicos o de mayor importancia de la Policitemia vera y realizar una contextualización sobre las opciones terapéuticas existentes o disponibles y las nuevas alternativas en desarrollo, desde diferentes disciplinas médicas básicas como la biología molecular y el área de la inmunología. Materiales y métodos: se realizó durante el segundo semestre de 2017 y el primer trimestre de 2018 una revisión exhaustiva de material bibliográfico existente sobre la Policitemia vera, su fisiopatología, enfoque terapéutico actual y las nuevas alternativas médicas disponibles para su tratamiento, todo lo anterior en la base de datos de la Universidad Pontificia Bolivariana, utilizando motores de búsqueda como lo son PubMed, Clinical Key, SciELO y Science Direct. Conclusión: es de vital importancia el estudio y la comprensión de la fisiopatología de la Policitemia vera para llegar, en un futuro, a la instauración de nuevas alternativas terapéuticas para los pacientes que la padecen y no responden a terapias tradicionales, pues aún no existe cura para esta condición hematológica y actualmente su enfoque terapéutico se centra principalmente, en controlar, mitigar y prevenir las complicaciones asociadas a la misma..(AU)

Introduction: myeloproliferative disorders such as Polycythemia vera (PV) belonging to the classic Philadelphian negative group, are an area of internal medicine and hematology that requires a closer look, in order to offer a clinical, diagnostic and therapeutic approach of a broad, pertinent and updated nature. Thus it would be feasibleto offer alternatives to individuals who do not respond or do not have an indication to apply a conventional treatment. Objective: to collect the characteristic or most important clinical elements of the Polycythemia Vera and to contextualize the existing or available therapeutic options and the new alternatives in development, from different basic medical disciplines such as molecular biology and the area of immunology. Materials and methods: an exhaustive review of existing bibliographic material on Polycythemia Vera, its physiopathology, current therapeutic approach and the new medical alternatives available for its treatment, was carried out during the second semester of 2017 and the first quarter of 2018. This was made under the license of Universidad Pontificia Bolivarina database, using search engines such as PubMed, Clinical Key, SciELO and Science Direct. Conclusion: the study and understanding of the pathophysiology of Polycythemia Vera is of vital importance to reach the establishment of new therapeutic alternatives for patients who suffer it and do not respond to traditional therapies, as there is still no cure for this hematological condition and currently, its therapeutic approach is mainly focused on controlling, mitigating and preventing complications associated with it..(AU)

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La policitemia vera se incluye dentro del grupo de las neoplasias mieloproliferativas crónicas. Tiene una incidencia inferior a 2,5 de cada 100 000 personas. Las formas trombóticas de presentación representan solo entre el 10-15 % de casos. La trombosis del eje espleno-portal no asociada a cirrosis o neoplasias tiene una prevalencia inferior a 5 por cada 10000 habitantes, entre el 17-53 % se asocian a algún tipo de síndrome mieloproliferativo primario. Se presenta el caso de una paciente de 70 años de edad que acudió debido a dolor abdominal de 15 días de evolución. El ultrasonido abdominal mostró en el hígado un marcado aumento de la ecogenicidad hacia las paredes de las estructuras vasculares, compatible con extensas áreas de trombosis del eje espleno-portal, corroborado luego por tomografía por contraste. La biopsia de médula ósea concluyó una hiperplasia de las tres series, la determinación de la mutación JAK2V617F resultó positiva. La baja incidencia de la policitemia vera y la forma inusual de mostrarse como una trombosis del sistema espleno-portal motivó a la presentación de este caso.

Polycitemia vera is included in the group chronic mieloproliferative neoplasias. It has an incidence below 2.5 every 100 000 people. The thrombotic forms represent only between 10.15 % of the cases. Splenic-portal thrombosis not associated to cirrhosis or neoplasias have an incidence below 5 every 10000 inhabitants, between 17-53 % are associated to any type of primary mieloproliferative syndrome. A case of a 70 year old patient who came to the doctor complainig of an abdominal pain of 15 day duration. Abdominal ultrasound showed a markedly ecogenic liver towards vascular structures, compatible with extensive thrombotic areas of the splenic-portal axis, corroborated later by contrast tomography. Bone morrow biopsy concluded a three series hyperplasia, the determination of JAK2V617F mutation was positive. The low incidence of polycitemia vera and its unusual way of presenting as thromobosis of splenic-portal system motivated the presentation of this case.

RESUMEN

O presente artigo tem como objetivo conhecer o perfil dos pacientes portadores de Neoplasias Mieloproliferativas Crônicas (NMPC) cromossomo Philadelfia (Ph) negativo clássicas que compreendem as entidades Policitemia Vera (PV), Trombocitose Essencial (TE) e Mielofibrose Primária (MP) na Unidade de Alta Complexidade Oncológica no período de 2008 a 2015. Trata-se de um estudo observacional, descritivo, retrospectivo e de abordagem quantitativa em que foram avaliados 77 prontuários de pacientes com diagnóstico de Policitemia Vera, Trombocitose Essencial e Mielofibrose Primária. Os resultados demonstraram que 54,5% (n=42) tinham diagnóstico de Trombocitose Essencial, 27,3% (n=21) de Policitemia Vera e 18,2% (n=14) de Mielofibrose Primária. A idade média ao diagnóstico girou em torno da sexta e sétima década de vida. As principais alterações laboratoriais encontradas na Policitemia Vera e na Mielofibrose Primária foram a hemoglobina, a qual tem como média 16,05(±2,89) e 9,98(±3,31) respectivamente, e o hematócrito com média de 51,48(±8,69) e 30,70 (±10,14) nesta ordem; já na Trombocitose Essencial as plaquetas foram a principal alteração, com média de 1.728.000(±447136,4). Em relação aos eventos tromboembólicos, 28,6% dos pacientes com PV, 21,4% com TE e 14,3% com MI apresentaram algum tipo de evento (IAM, TVP ou AVC).A mutação JAK2 foi positiva principalmente em portadores de Policitemia Vera, 76,2% (n=16). Dos pacientes portadores de Policitemia Vera 85,7% (n=18), 95,2% (n=40) de Trombocitose Essencial e 57,1% (n=8) de MP permanecem vivos e em tratamento. Concluise que o sexo feminino foi o mais acometido, a idade média ao diagnóstico foi entre a sexta e sétima década de vida, sendo a Trombocitose Essencial a doença mais incidente.

The present article aims to know the profile of patients with classic Philadelphia-negative Chronic Myeloproliferative Neoplasms (CMPNs) who comprehend the entities Polycythemia Vera (PV), Essential Thrombocytosis (ET) and Primary Myelofibrosis (PM) at the High Complexity Oncology Unit between 2008 and 2015. This is an observational, descriptive, retrospective and of quantitative approach study in which 77 diagnosed with Polycythemia Vera, Essential Thrombocytosis and Primary Myelofibrosis patients' charts were analyzed. Results demonstrated that 54,5% (n=42) were diagnosed with Essential Thrombocytosis, 27,3% (n=21) with Polycythemia Vera and 18,2% (n=14) with Primay Myelofibrosis. The mean age at diagnosis was around the sixth and seventh decade of life. The main laboratorial alterations found in Polycythemia Vera and Primary Myelofibrosis were hemoglobin, which has mean 16,05(±2,89) and 9,98(±3,31), respectively, and hematocrit, with mean 51,48(±8,69) and 30,70 (±10,14), in that order; in Essential Thrombocytosis, platelets were the main alteration, with mean 1.728.000(±447136,4). The frequency of thrombotic event was 64,3%, most of which had the diagnosis of Essential Thrombocytosis. The JAK2 mutation was positive mainly on patients with Polycythemia Vera, 76,2% (n=16). 85,7% (n=18) Polycythemia Vera, 95,2% (n=40) Essential Thrombocytosis and 57,1% (n=8) Primary Myelofibrosis patients remain alive and on treatment. It was concluded that females were the most affected, that the mean age at diagnosis was between the sixth and seventh decade of life and that Essential Thrombocytosis was the most incident disease.

RESUMEN

Resumen Introducción y objetivos: las neoplasias mieloproliferativas crónicas (NMPC) son relativamente raras, con incidencias que varían entre 0.47-1.03/100 000 habitantes. Se presenta el primer informe del trabajo del registro colombiano de NMPC, cuyo objetivo es describir las características clínicas de estos pacientes en nuestro país. Material y métodos: estudio descriptivo observacional, multicéntrico, retrospectivo y prospectivo en ocho centros del país, de abril de 2013 a diciembre de 2014. Las variables cualitativas se presentan con frecuencias absolutas y relativas; y las cuantitativas se resumen en medidas de tendencia central y dispersión. Resultados: once centros fueron aprobados, ocho ingresaron pacientes. En los primeros 179 casos reportados, 50% eran hombres, la edad promedio al diagnóstico 58.7 años (rango 19-92). Noventa y tres muestran trombocitemia esencial (TE); 55, policitemia vera (PV); y 31, mielofibrosis (MF). El 41% tenía esplenomegalia al diagnóstico; el 20% tuvo complicaciones trombóticas; y 12.85%, sangrado. Sólo en 57.5% se realizó JAK; de ellos, en 53.5% fue positivo, en especial sólo 60% de las PV. El 8% de los casos no tenía estudio de médula ósea, el 29.3% tiene algún grado de fibrosis. El hallazgo más frecuente fue hiperplasia megacariocítica en 59.78%. Más de 50% de pacientes estaban sintomáticos al diagnóstico. Sólo el 11% no recibió tratamiento farmacológico; los más frecuentes fueron hidroxiurea en 149 casos y ASA en 79. Con promedio de seguimiento de 52.6 meses; el 97.21% de los pacientes están vivos. Conclusiones: los hallazgos sugieren que algunas características de las NMPC podrían ser diferentes a lo reportado en otras series, lo que valida la importancia del esfuerzo de recoger información local.

Abstract Introduction and objectives: chronic MPNs are relatively rare, with incidences varying between 0.47-1.03 / 100 000 inhabitants. The first report of the work of the Colombian registry of chronic MPNs, whose objective is to describe the clinical characteristics of these patients in our country, is presented. Materials and methods: descriptive observational, multicenter, retrospective and prospective study in eight centers of the country, from April 2013 to December 2014. Qualitative variables are presented with absolute and relative frequencies, and the quantitative ones are summarized in measures of central tendency and dispersion. Results: eleven centers were approved; 8 admitted patients. In the first 179 cases reported, 50% were men; the average age at diagnosis was 58.7 years (range 19-92). Ninety-three present essential thrombocythemia (ET); 55, polycythemia vera (PV); and 31, myelofibrosis (MF). 41% had splenomegaly at diagnosis; 20% had thrombotic complications, and 12.85%, bleeding. JAK was performed in only 57.5%. Of them, in 53.5% was positive, especially in only 60% of the PV. 8% of the cases had no bone marrow study; 29.3% had some degree of fibrosis. The most frequent finding was megakaryocytic hyperplasia in 59.78%. More than 50% of patients were symptomatic at diagnosis. Only 11% did not receive pharmacological treatment, being the most frequent hydroxyurea in 149 cases and ASA in 79, with an average follow-up of 52.6 months. 97.21% of patients are alive. Conclusions: the findings suggest that some characteristics of chronic MPNs could be different from those reported in other series, which validates the importance of the effort to collect local information.

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RESUMEN

Granulomatous dermatitis has been associated with hematologic disorders, including the myelodysplastic syndromes. We describe the first case of granulomatous dermatitis associated with polycythemia vera, presenting as large erythematous nodules mimicking panniculitis. We also present the seventh case associated with myelodysplasia, with erythematous plaques on the face and neck, similar to a neutrophilic dermatosis. We consider it particularly interesting for dermatologists to be aware of this dermatosis as a nonspecific manifestation of various hematologic disorders. We suggest performing additional tests (complete blood count) to exclude the possibility that the skin manifestations are the initial sign of hematologic disease. Furthermore, we propose using the broader term, granulomatous dermatitis, to refer to these disorders as, although there are more reports of interstitial forms, cases with a more nodular presentation have also been published, and the importance of the diagnosis derives not from the subtype but from the relationship with an underlying disease.

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