Integrated flow cytometry and sequencing to reconstruct evolutionary patterns from dysplasia to acute myeloid leukemia Article Swipe
Catia Simoes
,
Carmen Chillón
,
David Martínez‐Cuadrón
,
Marı́a José Calasanz
,
María-Belén Vridiales
,
Iria Vázquez
,
Montserrat Hernández-Ruano
,
Beñat Ariceta
,
Paula Aguirre‐Ruiz
,
Leire Burgos
,
Diego Alignani
,
Sarai Sarvide
,
Sara Villar
,
Ana Alfonso Piérola
,
Felipe Prósper
,
Rosa Ayala
,
Joaquin Martínez‐López
,
Juan Bergua
,
Susana Vives
,
José Antonio Pérez‐Simón
,
María García‐Fortes
,
Teresa Bernal
,
Mercedes Colorado
,
Mayte Olave
,
Juan Ignacio Rodríguez-Gutiérrez
,
Jorge Labrador
,
Marcos González
,
Jesús F. San Miguel
,
Miguel Á. Sanz
,
Pau Montesinos
,
Bruno Paiva
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1182/bloodadvances.2022008141
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1182/bloodadvances.2022008141
Clonal evolution in acute myeloid leukemia (AML) originates long before diagnosis and is a dynamic process that may affect survival. However, it remains uninvestigated during routine diagnostic workups. We hypothesized that the mutational status of bone marrow dysplastic cells and leukemic blasts, analyzed at the onset of AML using integrated multidimensional flow cytometry (MFC) immunophenotyping and fluorescence-activated cell sorting (FACS) with next-generation sequencing (NGS), could reconstruct leukemogenesis. Dysplastic cells were detected by MFC in 285 of 348 (82%) newly diagnosed patients with AML. Presence of dysplasia according to MFC and World Health Organization criteria had no prognostic value in older adults. NGS of dysplastic cells and blasts isolated at diagnosis identified 3 evolutionary patterns: stable (n = 12 of 21), branching (n = 4 of 21), and clonal evolution (n = 5 of 21). In patients achieving complete response (CR), integrated MFC and FACS with NGS showed persistent measurable residual disease (MRD) in phenotypically normal cell types, as well as the acquisition of genetic traits associated with treatment resistance. Furthermore, whole-exome sequencing of dysplastic and leukemic cells at diagnosis and of MRD uncovered different clonal involvement in dysplastic myelo-erythropoiesis, leukemic transformation, and chemoresistance. Altogether, we showed that it is possible to reconstruct leukemogenesis in ∼80% of patients with newly diagnosed AML, using techniques other than single-cell multiomics.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1182/bloodadvances.2022008141
- https://ashpublications.org/bloodadvances/article-pdf/7/1/167/2027032/blooda_adv-2022-008141-main.pdf
- OA Status
- gold
- Cited By
- 5
- References
- 28
- Related Works
- 10
- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4306195230Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1182/bloodadvances.2022008141Digital Object Identifier
- Title
-
Integrated flow cytometry and sequencing to reconstruct evolutionary patterns from dysplasia to acute myeloid leukemiaWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2022Year of publication
- Publication date
-
2022-10-14Full publication date if available
- Authors
-
Catia Simoes, Carmen Chillón, David Martínez‐Cuadrón, Marı́a José Calasanz, María-Belén Vridiales, Iria Vázquez, Montserrat Hernández-Ruano, Beñat Ariceta, Paula Aguirre‐Ruiz, Leire Burgos, Diego Alignani, Sarai Sarvide, Sara Villar, Ana Alfonso Piérola, Felipe Prósper, Rosa Ayala, Joaquin Martínez‐López, Juan Bergua, Susana Vives, José Antonio Pérez‐Simón, María García‐Fortes, Teresa Bernal, Mercedes Colorado, Mayte Olave, Juan Ignacio Rodríguez-Gutiérrez, Jorge Labrador, Marcos González, Jesús F. San Miguel, Miguel Á. Sanz, Pau Montesinos, Bruno PaivaList of authors in order
- Landing page
-
https://doi.org/10.1182/bloodadvances.2022008141Publisher landing page
- PDF URL
-
https://ashpublications.org/bloodadvances/article-pdf/7/1/167/2027032/blooda_adv-2022-008141-main.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://ashpublications.org/bloodadvances/article-pdf/7/1/167/2027032/blooda_adv-2022-008141-main.pdfDirect OA link when available
- Concepts
-
Immunophenotyping, Somatic evolution in cancer, Myeloid, Minimal residual disease, Myeloid leukemia, Flow cytometry, Bone marrow, Dysplasia, Leukemia, Biology, Cancer research, Cell sorting, Immunology, Medicine, Genetics, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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5Total citation count in OpenAlex
- Citations by year (recent)
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2025: 1, 2024: 1, 2023: 3Per-year citation counts (last 5 years)
- References (count)
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28Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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