Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia
Although 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...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-06-01
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| Series: | Cancers |
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| Online Access: | https://www.mdpi.com/2072-6694/14/13/3236 |
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| author | Sónia Matos Paulo Bernardo Susana Esteves Aida Botelho de Sousa Marcos Lemos Patrícia Ribeiro Madalena Silva Albertina Nunes Joana Lobato Maria de Jesus Frade Maria Gomes da Silva Sérgio Chacim José Mariz Graça Esteves João Raposo Ana Espadana José Carda Pedro Barbosa Vânia Martins Maria Carmo-Fonseca Joana Desterro |
| author_facet | Sónia Matos Paulo Bernardo Susana Esteves Aida Botelho de Sousa Marcos Lemos Patrícia Ribeiro Madalena Silva Albertina Nunes Joana Lobato Maria de Jesus Frade Maria Gomes da Silva Sérgio Chacim José Mariz Graça Esteves João Raposo Ana Espadana José Carda Pedro Barbosa Vânia Martins Maria Carmo-Fonseca Joana Desterro |
| author_sort | Sónia Matos |
| collection | DOAJ |
| description | Although 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 <i>FLT3</i> 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. |
| first_indexed | 2024-03-09T22:02:30Z |
| format | Article |
| id | doaj.art-577af3f8df884a459ea5cc0fdf88e19a |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-09T22:02:30Z |
| publishDate | 2022-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-577af3f8df884a459ea5cc0fdf88e19a2023-11-23T19:46:36ZengMDPI AGCancers2072-66942022-06-011413323610.3390/cancers14133236Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid LeukemiaSónia Matos0Paulo Bernardo1Susana Esteves2Aida Botelho de Sousa3Marcos Lemos4Patrícia Ribeiro5Madalena Silva6Albertina Nunes7Joana Lobato8Maria de Jesus Frade9Maria Gomes da Silva10Sérgio Chacim11José Mariz12Graça Esteves13João Raposo14Ana Espadana15José Carda16Pedro Barbosa17Vânia Martins18Maria Carmo-Fonseca19Joana Desterro20GenoMed-Diagnósticos de Medicina Molecular SA, 1649-028 Lisboa, PortugalInstituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, PortugalUnidade de Investigação Clínica, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, PortugalServiço de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. António dos Capuchos, 1150-315 Lisboa, PortugalServiço de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. António dos Capuchos, 1150-315 Lisboa, PortugalServiço de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. António dos Capuchos, 1150-315 Lisboa, PortugalServiço de Hematologia, Centro Hospitalar Lisboa Central-Hospital de St. António dos Capuchos, 1150-315 Lisboa, PortugalServiço de Hematologia, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, PortugalServiço de Hematologia, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, PortugalServiço de Hematologia, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, PortugalServiço de Hematologia, Instituto Português de Oncologia de Lisboa, Francisco Gentil, 1099-023 Lisboa, PortugalServiço de Hematologia, Instituto Português de Oncologia do Porto, 4200-072 Porto, PortugalServiço de Hematologia, Instituto Português de Oncologia do Porto, 4200-072 Porto, PortugalServiço de Hematologia e Transplantação de Medula, Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, 1649-028 Lisboa, PortugalServiço de Hematologia e Transplantação de Medula, Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, 1649-028 Lisboa, PortugalServiço de Hematologia Clínica, Centro Hospitalar e Universitário de Coimbra, 3004-561 Coimbra, PortugalServiço de Hematologia Clínica, Centro Hospitalar e Universitário de Coimbra, 3004-561 Coimbra, PortugalInstituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, PortugalGenoMed-Diagnósticos de Medicina Molecular SA, 1649-028 Lisboa, PortugalInstituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, PortugalInstituto de Medicina Molecular João Lobo Antunes, Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, PortugalAlthough 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 <i>FLT3</i> 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.https://www.mdpi.com/2072-6694/14/13/3236AMLhigh-throughput sequencingrisk stratification |
| spellingShingle | Sónia Matos Paulo Bernardo Susana Esteves Aida Botelho de Sousa Marcos Lemos Patrícia Ribeiro Madalena Silva Albertina Nunes Joana Lobato Maria de Jesus Frade Maria Gomes da Silva Sérgio Chacim José Mariz Graça Esteves João Raposo Ana Espadana José Carda Pedro Barbosa Vânia Martins Maria Carmo-Fonseca Joana Desterro Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia Cancers AML high-throughput sequencing risk stratification |
| title | Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia |
| title_full | Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia |
| title_fullStr | Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia |
| title_full_unstemmed | Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia |
| title_short | Screening a Targeted Panel of Genes by Next-Generation Sequencing Improves Risk Stratification in Real World Patients with Acute Myeloid Leukemia |
| title_sort | screening a targeted panel of genes by next generation sequencing improves risk stratification in real world patients with acute myeloid leukemia |
| topic | AML high-throughput sequencing risk stratification |
| url | https://www.mdpi.com/2072-6694/14/13/3236 |
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