Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia
(2022) In Seminars in Cancer Biology 84. p.40-49- Abstract
Transcriptional profiling of acute leukemia, specifically by RNA-sequencing or whole transcriptome sequencing (WTS), has provided fundamental insights into its underlying disease biology and allows unbiased detection of oncogenic gene fusions, as well as of gene expression signatures that can be used for improved disease classification. While used as a research tool for many years, RNA-sequencing is becoming increasingly used in clinical diagnostics. Here, we highlight key transcriptomic studies of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) that have improved our biological understanding of these heterogeneous malignant disorders and have paved the way for translation into clinical diagnostics. Recent... (More)
Transcriptional profiling of acute leukemia, specifically by RNA-sequencing or whole transcriptome sequencing (WTS), has provided fundamental insights into its underlying disease biology and allows unbiased detection of oncogenic gene fusions, as well as of gene expression signatures that can be used for improved disease classification. While used as a research tool for many years, RNA-sequencing is becoming increasingly used in clinical diagnostics. Here, we highlight key transcriptomic studies of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) that have improved our biological understanding of these heterogeneous malignant disorders and have paved the way for translation into clinical diagnostics. Recent single-cell transcriptomic studies of ALL and AML, which provide new insights into the cellular ecosystem of acute leukemia and point to future clinical utility, are also reviewed. Finally, we discuss current challenges that need to be overcome for a more wide-spread adoption of RNA-sequencing in clinical diagnostics and how this technology significantly can aid the identification of genetic alterations in current guidelines and of newly emerging disease entities, some of which are critical to identify because of the availability of targeted therapies, thereby paving the way for improved precision medicine of acute leukemia.
(Less)
- author
- Lilljebjörn, Henrik LU ; Orsmark-Pietras, Christina LU ; Mitelman, Felix LU ; Hagström-Andersson, Anna LU and Fioretos, Thoas LU
- organization
- publishing date
- 2022
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Acute lymphoblastic leukemia, Acute myeloid leukemia, Classification, Diagnostics, Gene fusions, Precision medicine, RNA-sequencing, Whole transcriptome sequencing
- in
- Seminars in Cancer Biology
- volume
- 84
- pages
- 40 - 49
- publisher
- Academic Press
- external identifiers
-
- scopus:85116654940
- pmid:34606984
- ISSN
- 1044-579X
- DOI
- 10.1016/j.semcancer.2021.09.013
- language
- English
- LU publication?
- yes
- additional info
- Publisher Copyright: © 2021
- id
- c25f5563-276f-41b0-a890-fe0cdf44ff83
- date added to LUP
- 2021-10-27 09:35:46
- date last changed
- 2024-09-22 04:19:23
@article{c25f5563-276f-41b0-a890-fe0cdf44ff83, abstract = {{<p>Transcriptional profiling of acute leukemia, specifically by RNA-sequencing or whole transcriptome sequencing (WTS), has provided fundamental insights into its underlying disease biology and allows unbiased detection of oncogenic gene fusions, as well as of gene expression signatures that can be used for improved disease classification. While used as a research tool for many years, RNA-sequencing is becoming increasingly used in clinical diagnostics. Here, we highlight key transcriptomic studies of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML) that have improved our biological understanding of these heterogeneous malignant disorders and have paved the way for translation into clinical diagnostics. Recent single-cell transcriptomic studies of ALL and AML, which provide new insights into the cellular ecosystem of acute leukemia and point to future clinical utility, are also reviewed. Finally, we discuss current challenges that need to be overcome for a more wide-spread adoption of RNA-sequencing in clinical diagnostics and how this technology significantly can aid the identification of genetic alterations in current guidelines and of newly emerging disease entities, some of which are critical to identify because of the availability of targeted therapies, thereby paving the way for improved precision medicine of acute leukemia.</p>}}, author = {{Lilljebjörn, Henrik and Orsmark-Pietras, Christina and Mitelman, Felix and Hagström-Andersson, Anna and Fioretos, Thoas}}, issn = {{1044-579X}}, keywords = {{Acute lymphoblastic leukemia; Acute myeloid leukemia; Classification; Diagnostics; Gene fusions; Precision medicine; RNA-sequencing; Whole transcriptome sequencing}}, language = {{eng}}, pages = {{40--49}}, publisher = {{Academic Press}}, series = {{Seminars in Cancer Biology}}, title = {{Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia}}, url = {{http://dx.doi.org/10.1016/j.semcancer.2021.09.013}}, doi = {{10.1016/j.semcancer.2021.09.013}}, volume = {{84}}, year = {{2022}}, }