<?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>2521-2281</journal-id>
<journal-title><![CDATA[Medicina clínica y social]]></journal-title>
<abbrev-journal-title><![CDATA[Med. clín. soc.]]></abbrev-journal-title>
<issn>2521-2281</issn>
<publisher>
<publisher-name><![CDATA[Facultad de Ciencias Médicas, Filial de Santa Rosa del Aguaray, Cátedra de Socioantropología]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S2521-22812025000100224</article-id>
<article-id pub-id-type="doi">10.52379/mcs.v9.591</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Mutaciones en los genes NPM1, IDH1 e IDH2 en pacientes p araguayos con leucemia mieloide aguda]]></article-title>
<article-title xml:lang="en"><![CDATA[Mutations in the NPM1, IDH1 and IDH2 genes in Paraguayan patients with acute myeloid leukemia]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Franco]]></surname>
<given-names><![CDATA[Lady]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Mujica]]></surname>
<given-names><![CDATA[María Paz]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Jolly]]></surname>
<given-names><![CDATA[Valerie]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Salinas]]></surname>
<given-names><![CDATA[Víctor]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Zarza]]></surname>
<given-names><![CDATA[José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[González Hermosa]]></surname>
<given-names><![CDATA[Diana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
<xref ref-type="aff" rid="Aaf"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Di Tore]]></surname>
<given-names><![CDATA[Denisse]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Morel]]></surname>
<given-names><![CDATA[Laura]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Bogado]]></surname>
<given-names><![CDATA[Juan José]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Labrano]]></surname>
<given-names><![CDATA[Mónica]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Leiva]]></surname>
<given-names><![CDATA[Samadi]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ovando]]></surname>
<given-names><![CDATA[José Manuel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Santacruz]]></surname>
<given-names><![CDATA[Rodrigo]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Brítez]]></surname>
<given-names><![CDATA[Miguel]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ayala]]></surname>
<given-names><![CDATA[Ana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad Nacional de Asunción Instituto de Investigaciones en Ciencias de la Salud Departamento de Genética Molecular]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Universidad Nacional de Asunción Instituto de Investigaciones en Ciencias de la Salud Programa de Post-grado de Maestría en Ciencias Biomédicas]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Instituto de Previsión Social Hospital Central Emilio Cubas Departamento de Hematología]]></institution>
<addr-line><![CDATA[Asunción ]]></addr-line>
<country>Paraguay</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Universidad Nacional de Asunción Facultad de Ciencias Médicas Departamento de Hematología Adulto]]></institution>
<addr-line><![CDATA[San Lorenzo ]]></addr-line>
<country>Paraguay</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>00</month>
<year>2025</year>
</pub-date>
<volume>9</volume>
<numero>1</numero>
<fpage>224</fpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_arttext&amp;pid=S2521-22812025000100224&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_abstract&amp;pid=S2521-22812025000100224&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.iics.una.py/scielo.php?script=sci_pdf&amp;pid=S2521-22812025000100224&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  La leucemia mieloide aguda (LMA) surge a partir de la expansión clonal de blastos mieloides en sangre periférica, médula ósea u otros tejidos. Su etiología se encuentra asociada al desarrollo de mutaciones genéticas. La identificación de mutaciones potencialmente accionables es de relevancia clínica en el diagnóstico, pronóstico y tratamiento de la LMA.  Objetivo:  Identificar y describir el perfil de mutaciones en los genes NPM1, IDH1 e IDH2 en pacientes paraguayos con diagnóstico de LMA.  Metodología:  Se realizó un estudio retrospectivo epidemiológico molecular en 32 muestras de pacientes con LMA portadores de mutaciones en el gen NPM1. La detección de variantes genéticas se llevó a cabo mediante PCR en tiempo real y secuenciación Sanger.  Resultados:  La mutación de NPM1 más frecuentemente detectada fue la de tipo A, identificada en el 94% (30/32) de los casos. Además, se encontraron mutaciones en IDH1 e IDH2 en el 40% (13/32) de los casos, siendo la variante IDH2 R140Q la más predominante. La co-ocurrencia más frecuente se observó entre mutaciones en NPM1 e IDH2.  Conclusión:  Este estudio proporciona información relevante sobre el perfil de mutaciones en NPM1, IDH1 e IDH2 en la LMA en Paraguay, resaltando la importancia de estos marcadores tanto en la estratificación en grupo de riesgo como en el potencial beneficio de terapias dirigidas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Acute myeloid leukemia (AML) arises from the clonal expansion of myeloid blasts in peripheral blood, bone marrow, or other tissues. Its etiology is associated with the development of genetic mutations. Identifying actionable mutations is clinically relevant for the diagnosis, prognosis, and treatment of AML.  Objective:  To identify and describe the mutation profile of the NPM1, IDH1, and IDH2 genes in Paraguayan patients diagnosed with AML.  Methodology:  A retrospective molecular epidemiological study was conducted on 32 AML patient samples harboring NPM1 mutations. Real-time PCR and Sanger sequencing were performed to detect genetic variants.  Results:  The most frequently detected NPM1 mutation was type A, identified in 94% (30/32) of cases. Additionally, IDH1 and IDH2 mutations were found in 40% (13/32) of cases, with the IDH2 R140Q variant being the most predominant. The most frequent co-occurrence of mutations was observed between NPM1 and IDH2.  Conclusion:  This study provides valuable insights into the mutational profile of NPM1, IDH1, and IDH2 in AML patients in Paraguay, highlighting the relevance of these markers for risk stratification and their potential benefit for targeted therapies.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Leucemia Mieloide Aguda]]></kwd>
<kwd lng="es"><![CDATA[NPM1]]></kwd>
<kwd lng="es"><![CDATA[IDH1]]></kwd>
<kwd lng="es"><![CDATA[IDH2]]></kwd>
<kwd lng="es"><![CDATA[diagnóstico molecular]]></kwd>
<kwd lng="en"><![CDATA[Acute Myeloid leukemia]]></kwd>
<kwd lng="en"><![CDATA[NPM1]]></kwd>
<kwd lng="en"><![CDATA[IDH1]]></kwd>
<kwd lng="en"><![CDATA[IDH2]]></kwd>
<kwd lng="en"><![CDATA[molecular diagnosis]]></kwd>
</kwd-group>
</article-meta>
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