Skip to main content

Lund University Publications

LUND UNIVERSITY LIBRARIES

Transcriptomics paving the way for improved diagnostics and precision medicine of acute leukemia

Lilljebjörn, Henrik LU orcid ; Orsmark-Pietras, Christina LU ; Mitelman, Felix LU orcid ; Hagström-Andersson, Anna LU orcid and Fioretos, Thoas LU (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)
Please use this url to cite or link to this publication:
author
; ; ; and
organization
publishing date
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
2024-06-15 19:20:17
@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}},
}