Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype

Nearly 50% of patients with de novo acute myeloid leukemia (AML) harbor an apparently normal karyotype (NK) by conventional cytogenetic techniques showing a very heterogeneous prognosis. This could be related to the presence of cryptic cytogenetic abnormalities (CCA) not detectable by conventional m...

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Autores: Ibáñez, Mariam, Such, Esperanza, Onecha, Esther, Gómez Seguí, Inés, Liquori, Alessandro, Sellés, Jorge, Hervás Marín, David, Barragán, Eva, Neef, Alexandre, Ayala, Rosa, Llop, Marta, López Pavía, María, Rapado, Inmaculada, Sanjuan Pla, Alejandra, Sargas, Claudia, González Romero, Elisa, Boluda Navarro, Mireia, Andreu, Rafael, Senent, Leonor, Montesinos, Pau, Martínez López, Joaquín, Sanz, Miguel Ángel, Sanz, Guillermo, Cervera, José
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Universidad Católica de Valencia San Vicente Mártir
Repositorio:RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártir
Idioma:inglés
OAI Identifier:oai:riucv.ucv.es:20.500.12466/3900
Acceso en línea:http://hdl.handle.net/20.500.12466/3900
Access Level:acceso abierto
Palabra clave:Acute myeloid leukemia (AML)
Hematology
Cytogenetics
3205.04 Hematología
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repository_id_str
spelling Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal KaryotypeIbáñez, MariamSuch, EsperanzaOnecha, EstherGómez Seguí, InésLiquori, AlessandroSellés, JorgeHervás Marín, DavidBarragán, EvaNeef, AlexandreAyala, RosaLlop, MartaLópez Pavía, MaríaRapado, InmaculadaSanjuan Pla, AlejandraSargas, ClaudiaGonzález Romero, ElisaBoluda Navarro, MireiaAndreu, RafaelSenent, LeonorMontesinos, PauMartínez López, JoaquínSanz, Miguel ÁngelSanz, GuillermoCervera, JoséAcute myeloid leukemia (AML)HematologyCytogenetics3205.04 HematologíaNearly 50% of patients with de novo acute myeloid leukemia (AML) harbor an apparently normal karyotype (NK) by conventional cytogenetic techniques showing a very heterogeneous prognosis. This could be related to the presence of cryptic cytogenetic abnormalities (CCA) not detectable by conventional methods. The study of copy number alterations (CNA) and loss of heterozygozity (LOH) in hematological malignancies is possible using a high resolution SNP-array. Recently, in clinical practice the karyotype study has been complemented with the identifcation of point mutations in an increasing number of genes. We analyzed 252 de novo NK-AML patients from Hospital La Fe (n=44) and from previously reported cohorts (n=208) to identify CCA by SNP-array, and to integrate the analysis of CCA with molecular alterations detected by Next-Generation-sequencing. CCA were detected in 58% of patients. In addition, 49% of them harbored CNA or LOH and point mutations, simultaneously. Patients were grouped in 3 sets by their abnormalities: patients carrying several CCA simultaneously, patients with mutations in FLT3, NPM1 and/or DNMT3A and patients with an amalgam of mutations. We found a negative correlation between the number of CCA and the outcome of the patients. This study outlines that CCA are present in up to 50% of NK-AML patients and have a negative impact on the outcome. CCA may contribute to the heterogeneous prognosis.20242024-02-0120202020-04-0120202020-04-01journal articlehttp://purl.org/coar/resource_type/c_6501info:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/20.500.12466/3900reponame:RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártirinstname:Universidad Católica de Valencia San Vicente MártirInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:riucv.ucv.es:20.500.12466/39002026-06-19T08:32:07Z
dc.title.none.fl_str_mv Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
title Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
spellingShingle Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
Ibáñez, Mariam
Acute myeloid leukemia (AML)
Hematology
Cytogenetics
3205.04 Hematología
title_short Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
title_full Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
title_fullStr Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
title_full_unstemmed Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
title_sort Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype
dc.creator.none.fl_str_mv Ibáñez, Mariam
Such, Esperanza
Onecha, Esther
Gómez Seguí, Inés
Liquori, Alessandro
Sellés, Jorge
Hervás Marín, David
Barragán, Eva
Neef, Alexandre
Ayala, Rosa
Llop, Marta
López Pavía, María
Rapado, Inmaculada
Sanjuan Pla, Alejandra
Sargas, Claudia
González Romero, Elisa
Boluda Navarro, Mireia
Andreu, Rafael
Senent, Leonor
Montesinos, Pau
Martínez López, Joaquín
Sanz, Miguel Ángel
Sanz, Guillermo
Cervera, José
author Ibáñez, Mariam
author_facet Ibáñez, Mariam
Such, Esperanza
Onecha, Esther
Gómez Seguí, Inés
Liquori, Alessandro
Sellés, Jorge
Hervás Marín, David
Barragán, Eva
Neef, Alexandre
Ayala, Rosa
Llop, Marta
López Pavía, María
Rapado, Inmaculada
Sanjuan Pla, Alejandra
Sargas, Claudia
González Romero, Elisa
Boluda Navarro, Mireia
Andreu, Rafael
Senent, Leonor
Montesinos, Pau
Martínez López, Joaquín
Sanz, Miguel Ángel
Sanz, Guillermo
Cervera, José
author_role author
author2 Such, Esperanza
Onecha, Esther
Gómez Seguí, Inés
Liquori, Alessandro
Sellés, Jorge
Hervás Marín, David
Barragán, Eva
Neef, Alexandre
Ayala, Rosa
Llop, Marta
López Pavía, María
Rapado, Inmaculada
Sanjuan Pla, Alejandra
Sargas, Claudia
González Romero, Elisa
Boluda Navarro, Mireia
Andreu, Rafael
Senent, Leonor
Montesinos, Pau
Martínez López, Joaquín
Sanz, Miguel Ángel
Sanz, Guillermo
Cervera, José
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv Acute myeloid leukemia (AML)
Hematology
Cytogenetics
3205.04 Hematología
topic Acute myeloid leukemia (AML)
Hematology
Cytogenetics
3205.04 Hematología
description Nearly 50% of patients with de novo acute myeloid leukemia (AML) harbor an apparently normal karyotype (NK) by conventional cytogenetic techniques showing a very heterogeneous prognosis. This could be related to the presence of cryptic cytogenetic abnormalities (CCA) not detectable by conventional methods. The study of copy number alterations (CNA) and loss of heterozygozity (LOH) in hematological malignancies is possible using a high resolution SNP-array. Recently, in clinical practice the karyotype study has been complemented with the identifcation of point mutations in an increasing number of genes. We analyzed 252 de novo NK-AML patients from Hospital La Fe (n=44) and from previously reported cohorts (n=208) to identify CCA by SNP-array, and to integrate the analysis of CCA with molecular alterations detected by Next-Generation-sequencing. CCA were detected in 58% of patients. In addition, 49% of them harbored CNA or LOH and point mutations, simultaneously. Patients were grouped in 3 sets by their abnormalities: patients carrying several CCA simultaneously, patients with mutations in FLT3, NPM1 and/or DNMT3A and patients with an amalgam of mutations. We found a negative correlation between the number of CCA and the outcome of the patients. This study outlines that CCA are present in up to 50% of NK-AML patients and have a negative impact on the outcome. CCA may contribute to the heterogeneous prognosis.
publishDate 2020
dc.date.none.fl_str_mv 2020
2020-04-01
2020
2020-04-01
2024
2024-02-01
dc.type.none.fl_str_mv journal article
http://purl.org/coar/resource_type/c_6501
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv http://hdl.handle.net/20.500.12466/3900
url http://hdl.handle.net/20.500.12466/3900
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártir
instname:Universidad Católica de Valencia San Vicente Mártir
instname_str Universidad Católica de Valencia San Vicente Mártir
reponame_str RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártir
collection RIUCV. Repositorio de la Universidad Católica de Valencia San Vicente Mártir
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,301603

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