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Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report

Extramedullary involvement of acute myeloid leukemia (AML) is infrequent, and ascitic infiltration is even more unusual. We present a case of a 48-year-old woman diagnosed with NPM1-mutated AML that debuted with ascites, for which morphological studies of the ascitic fluid did not detect leukemic in...

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Autores principales: Martínez-Alfonzo, Inés, Láinez-González, Daniel, Solán-Blanco, Laura, Franganillo-Suarez, Aida, Cornejo, José I., Garcia-Lopez, Amanda, Martín-Herrero, Sara, Castaño-Bonilla, Tamara, Salgado-Sánchez, Rocío, Arquero-Portero, Teresa, Cortti-Ferrari, María J., Llamas-Sillero, Pilar, Alonso-Dominguez, Juan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880337/
https://www.ncbi.nlm.nih.gov/pubmed/35208587
http://dx.doi.org/10.3390/medicina58020264
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author Martínez-Alfonzo, Inés
Láinez-González, Daniel
Solán-Blanco, Laura
Franganillo-Suarez, Aida
Cornejo, José I.
Garcia-Lopez, Amanda
Martín-Herrero, Sara
Castaño-Bonilla, Tamara
Salgado-Sánchez, Rocío
Arquero-Portero, Teresa
Cortti-Ferrari, María J.
Llamas-Sillero, Pilar
Alonso-Dominguez, Juan M.
author_facet Martínez-Alfonzo, Inés
Láinez-González, Daniel
Solán-Blanco, Laura
Franganillo-Suarez, Aida
Cornejo, José I.
Garcia-Lopez, Amanda
Martín-Herrero, Sara
Castaño-Bonilla, Tamara
Salgado-Sánchez, Rocío
Arquero-Portero, Teresa
Cortti-Ferrari, María J.
Llamas-Sillero, Pilar
Alonso-Dominguez, Juan M.
author_sort Martínez-Alfonzo, Inés
collection PubMed
description Extramedullary involvement of acute myeloid leukemia (AML) is infrequent, and ascitic infiltration is even more unusual. We present a case of a 48-year-old woman diagnosed with NPM1-mutated AML that debuted with ascites, for which morphological studies of the ascitic fluid did not detect leukemic infiltration, maybe due to technical problems in the sample preparation. Multiparameter flow cytometry (MFC) detected a blast population compatible with AML, and allele-specific PCR detected NPM1-mutated transcripts. Body fluid infiltrations are an infrequent initial manifestation or sign of progression in AML. As far as we know, this is the first reported case of an NPM1-mutated AML that debuted with ascites, and also the first description of the utilization of molecular techniques to detect the leukemic origin of the ascites. This case highlights that, given that allele-specific PCR and MFC increase the sensitivity of morphological studies, these techniques should be routinely applied in the study of any kind of effusion detected in an AML patient.
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spelling pubmed-88803372022-02-26 Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report Martínez-Alfonzo, Inés Láinez-González, Daniel Solán-Blanco, Laura Franganillo-Suarez, Aida Cornejo, José I. Garcia-Lopez, Amanda Martín-Herrero, Sara Castaño-Bonilla, Tamara Salgado-Sánchez, Rocío Arquero-Portero, Teresa Cortti-Ferrari, María J. Llamas-Sillero, Pilar Alonso-Dominguez, Juan M. Medicina (Kaunas) Case Report Extramedullary involvement of acute myeloid leukemia (AML) is infrequent, and ascitic infiltration is even more unusual. We present a case of a 48-year-old woman diagnosed with NPM1-mutated AML that debuted with ascites, for which morphological studies of the ascitic fluid did not detect leukemic infiltration, maybe due to technical problems in the sample preparation. Multiparameter flow cytometry (MFC) detected a blast population compatible with AML, and allele-specific PCR detected NPM1-mutated transcripts. Body fluid infiltrations are an infrequent initial manifestation or sign of progression in AML. As far as we know, this is the first reported case of an NPM1-mutated AML that debuted with ascites, and also the first description of the utilization of molecular techniques to detect the leukemic origin of the ascites. This case highlights that, given that allele-specific PCR and MFC increase the sensitivity of morphological studies, these techniques should be routinely applied in the study of any kind of effusion detected in an AML patient. MDPI 2022-02-10 /pmc/articles/PMC8880337/ /pubmed/35208587 http://dx.doi.org/10.3390/medicina58020264 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Martínez-Alfonzo, Inés
Láinez-González, Daniel
Solán-Blanco, Laura
Franganillo-Suarez, Aida
Cornejo, José I.
Garcia-Lopez, Amanda
Martín-Herrero, Sara
Castaño-Bonilla, Tamara
Salgado-Sánchez, Rocío
Arquero-Portero, Teresa
Cortti-Ferrari, María J.
Llamas-Sillero, Pilar
Alonso-Dominguez, Juan M.
Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report
title Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report
title_full Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report
title_fullStr Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report
title_full_unstemmed Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report
title_short Flow Cytometry and Molecular Techniques Could Complement Morphological Detection of Leukemic Infiltration in Ascitic Fluids: A Case Report
title_sort flow cytometry and molecular techniques could complement morphological detection of leukemic infiltration in ascitic fluids: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880337/
https://www.ncbi.nlm.nih.gov/pubmed/35208587
http://dx.doi.org/10.3390/medicina58020264
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