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Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia

2022Journal article Open access
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dc.contributor.authorMatos, S
dc.contributor.authorBernardo, P
dc.contributor.authorEsteves, S
dc.contributor.authorBotelho de Sousa, A
dc.contributor.authorLemos, M
dc.contributor.authorRibeiro, P
dc.contributor.authorSilva, M
dc.contributor.authorNunes, A
dc.contributor.authorLobato, J
dc.contributor.authorFrade, MJ
dc.contributor.authorGomes da Silva, M
dc.contributor.authorChacim, S
dc.contributor.authorMariz, J
dc.contributor.authorEsteves, G
dc.contributor.authorRaposo, J
dc.contributor.authorEspadana, A
dc.contributor.authorCarda, J
dc.contributor.authorBarbosa, P
dc.contributor.authorMartins, V
dc.contributor.authorCarmo-Fonseca, M
dc.contributor.authorDesterro, J
dc.date.accessioned2022-07-15T15:18:39Z
dc.date.available2022-07-15T15:18:39Z
dc.date.issued2022
dc.description.abstractAlthough mutation profiling of defined genes is recommended for classification of acute myeloid leukemia (AML) patients, screening of targeted gene panels using next-generation sequencing (NGS) is not always routinely used as standard of care. The objective of this study was to prospectively assess whether extended molecular monitoring using NGS adds clinical value for risk assessment in real-world AML patients. We analyzed a cohort of 268 newly diagnosed AML patients. We compared the prognostic stratification of our study population according to the European LeukemiaNet recommendations, before and after the incorporation of the extended mutational profile information obtained by NGS. Without access to NGS data, 63 patients (23%) failed to be stratified into risk groups. After NGS data, only 27 patients (10%) failed risk stratification. Another 33 patients were re-classified as adverse-risk patients once the NGS data was incorporated. In total, access to NGS data refined risk assessment for 62 patients (23%). We further compared clinical outcomes with prognostic stratification, and observed unexpected outcomes associated with FLT3 mutations. In conclusion, this study demonstrates the prognostic utility of screening AML patients for multiple gene mutations by NGS and underscores the need for further studies to refine the current risk classification criteria.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCancers (Basel). 2022 Jun 30;14(13):3236.pt_PT
dc.identifier.doi10.3390/cancers14133236.pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4142
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.subjectHSAC HEMpt_PT
dc.subjectAMLpt_PT
dc.subjectHigh-Throughput Sequencingpt_PT
dc.subjectRisk Stratificationpt_PT
dc.titleScreening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.startPage3236pt_PT
oaire.citation.titleCancerspt_PT
oaire.citation.volume14pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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