<?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>S0864-02892020000200013</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Caso atípico de leucemia mieloide aguda con coexistencia de NPM1-A e inversión del cromosoma 16]]></article-title>
<article-title xml:lang="en"><![CDATA[A rare case of acute myeloid leukemia with coexistence of NPM1-A mutation and chromosome 16 inversion]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Ruiz Moleón]]></surname>
<given-names><![CDATA[Vera]]></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[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[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[González García]]></surname>
<given-names><![CDATA[Sheila]]></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>
<pub-date pub-type="pub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>06</month>
<year>2020</year>
</pub-date>
<volume>36</volume>
<numero>2</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S0864-02892020000200013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S0864-02892020000200013&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S0864-02892020000200013&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción: La leucemia mieloide aguda (LMA) es un grupo heterogéneo de desórdenes clonales con una gran variabilidad en términos de patogénesis, características morfológicas, genéticas e inmunofenotípicas. Las mutaciones en el gen NPM1 representan una de las más comunes en las LMA y está asociada con una respuesta clínica favorable. Por citogenética, la inversión del cromosoma 16 define el subgrupo de las LMA de factor de unión al grupo con un pronóstico favorable.  Objetivo:  Describir un caso con diagnóstico de LMA en los cuales el estudio molecular del gen NPM1 y de la inv(16) fueron positivos.  Caso clínico:  A nivel molecular, la hibridación in situ fluorescente fue positivo a la inv(16) y por biología molecular fue positivo tanto a la inv(16) como al gen NPM1-A, elementos de baja frecuencia de aparición. Se le administró a la paciente un esquema de poliquimioterapia no intensiva para mejorarla clínicamente. Después de una mejoría clínica inicial, la paciente comenzó con complicaciones y falleció.  Conclusiones:  La coexistencia de estas dos mutaciones es muy poco frecuente en pacientes con LMA, y a pesar de ser de buen pronóstico la paciente falleció a los pocos días de tratamiento.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  Acute myeloid leukemia (AML) is a heterogeneous group of clonal disorders with great variability in terms of pathogenesis, morphological, genetic and immunophenotypic characteristics. NPM1 mutations represent one of the most common in AML and are associated with favorable clinical response. By cytogenetics, chromosome 16 inversion defines, with a favorable prognosis, the core&#8208;binding factor for the subgroup of AMLs  Objective:  To describe a AML case in which the molecular study of the NPM1 gene and the chromosome 16 inversion were positive.  Clinical case:  At the molecular level, fluorescent in situ hybridization was positive for chromosome 16 inversion and, by molecular biology, it was positive for both chromosome 16 inversion and for the NPM1-A gene, elements with a low frequency of appearance. The patient was administered a non-intensive combination as part of a chemotherapy regimen to improve her clinical status. After initial clinical improvement, the patient began with complications and died.  Conclusions: The coexistence of these two mutations is very rare in patients with AML. Despite presenting a good prognosis, the patient died after a few days of treatment.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[leucemia mieloide aguda]]></kwd>
<kwd lng="es"><![CDATA[gen NPM1]]></kwd>
<kwd lng="es"><![CDATA[inv(16)]]></kwd>
<kwd lng="es"><![CDATA[mutaciones genéticas cooperantes]]></kwd>
<kwd lng="en"><![CDATA[acute myeloid leukemia]]></kwd>
<kwd lng="en"><![CDATA[NPM1 gene]]></kwd>
<kwd lng="en"><![CDATA[chromosome 16 inversion]]></kwd>
<kwd lng="en"><![CDATA[cooperating gene mutations]]></kwd>
</kwd-group>
</article-meta>
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