<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0864-0289</journal-id>
<journal-title><![CDATA[Revista Cubana de Hematología, Inmunología y Hemoterapia]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Cubana Hematol Inmunol Hemoter]]></abbrev-journal-title>
<issn>0864-0289</issn>
<publisher>
<publisher-name><![CDATA[Centro Nacional de Información de Ciencias MédicasEditorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0864-02892022000400002</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Influencia de la carga alélica del JAK2V617F en pacientes cubanos con trombocitemia esencial y mielofibrosis primaria]]></article-title>
<article-title xml:lang="en"><![CDATA[Influence of JAK2V617F allelic burden in Cuban patients with essential thrombocythemia and primary myelofibrosis]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández Martínez]]></surname>
<given-names><![CDATA[Lesbia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Garrote Santana]]></surname>
<given-names><![CDATA[Heidys]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Amor Vigil]]></surname>
<given-names><![CDATA[Ana María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Díaz Alonso]]></surname>
<given-names><![CDATA[Carmen Alina]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Fernández Águila]]></surname>
<given-names><![CDATA[Julio Dámaso]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lavaut Sánchez]]></surname>
<given-names><![CDATA[Kalia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González González]]></surname>
<given-names><![CDATA[Annelys]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Lam Díaz]]></surname>
<given-names><![CDATA[Rosa María]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Quintero Sierra]]></surname>
<given-names><![CDATA[Yamilé]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Romero González]]></surname>
<given-names><![CDATA[Adrián]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cabrera Hernández]]></surname>
<given-names><![CDATA[Daniel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Instituto de Hematología e Inmunología  ]]></institution>
<addr-line><![CDATA[ La Habana]]></addr-line>
<country>Cuba</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Hospital General Universitario &#8220;Gustavo Aldereguía Lima&#8221;  ]]></institution>
<addr-line><![CDATA[Cienfuegos ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>38</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0864-02892022000400002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0864-02892022000400002&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0864-02892022000400002&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La frecuencia de la mutación JAK2V617F se estima entre el 50 y 60 % en pacientes con trombocitemia esencial y mielofibrosis primaria. El 30 % de los pacientes con policitemia vera y mielofibrosis primaria. Entre 2-4 % de los pacientes con trombocitemia esencial presentan pérdida de heterocigosidad.  Objetivos: Evaluar la influencia de la carga alélica de la mutación JAK2V617F y su relación con variables clínico-hematológicas en el diagnóstico de estas enfermedades en pacientes cubanos.  Métodos:  Se realizó un estudio retrospectivo, descriptivo y longitudinal en el Instituto de Hematología e Inmunología entre 2010 y 2020. Se incluyeron todos los pacientes con sospecha de trombocitemia esencial y mielofibrosis primaria con muestras de ADN válidas. Se les cuantificó la carga alélica de la mutación por PCR en tiempo real.  Resultados:  Se detectó la mutación en 66,7 % de los diagnosticados con trombocitemia esencial y mielofibrosis primaria. El 62,5 % de los pacientes con mielofibrosis primaria fueron homocigotos a la mutación, mientras que en la trombocitemia esencial solo el 20,8 %. La diferencia de medias de cargas alélicas entre ambas enfermedades fue estadísticamente significativa. No se encontraron diferencias significativas en la comparación de las variables clínicas y hematológicas en estas enfermedades ni asociación con la carga alélica con excepción de las plaquetas en la mielofibrosis primaria.  Conclusiones:  El estudio estuvo limitado por la escasa muestra de pacientes, pero se corresponde con otras investigaciones que sostienen el concepto de que la presentación fenotípica de las neoplasias mieloproliferativasestá influenciada por la carga mutacional del JAK2V617F.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  The frequency of the JAK2V617F mutation is estimated to be between 50 % and 60 % in patients with essential thrombocythemia and primary myelofibrosis. 30 % of patients with polycythemia vera and primary myelofibrosis and 2-4 % of patients with essential thrombocythemia show loss of heterozygosity.  Objectives:  To evaluate the influence of the allelic load of the JAK2V617F mutation in the diagnosis of these diseases in Cuban patients and its relationship with clinical-hematological variables.  Methodology:  A retrospective, descriptive and longitudinal study was carried out at the Institute of Hematology and Immunology between 2010 and 2020. All patients with suspected essential thrombocythemia and primary myelofibrosis with valid DNA samples were included. The allelic load of the mutation was quantified by real-time PCR.  Results:  The mutation was detected in 66.7 % of those diagnosed with essential thrombocythemia and primary myelofibrosis. 62.5 % of the patients with primary myelofibrosis were homozygous for the mutation, while in essential thrombocythemia only 20.8 %. The difference in mean allelic loads between both diseases was statistically significant. No significant differences were found in the comparison of clinical and hematological variables in these diseases or association with allelic load, with the exception of platelets in primary myelofibrosis.  Conclusions:  The study was limited by the small sample of patients, but it corresponds to other investigations that support the concept that the phenotypic presentation of myeloproliferative neoplasms is influenced by the mutational load of JAK2V617F.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[JAK2V617F]]></kwd>
<kwd lng="es"><![CDATA[trombocitemia esencial]]></kwd>
<kwd lng="es"><![CDATA[mielofibrosis primaria]]></kwd>
<kwd lng="en"><![CDATA[JAK2V617F]]></kwd>
<kwd lng="en"><![CDATA[essential thrombocythemia]]></kwd>
<kwd lng="en"><![CDATA[primary myelofibrosis]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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