PMID- 37035166
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230412
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 13
DP  - 2023
TI  - Precision diagnostics in chronic lymphocytic leukemia: Past, present and future.
PG  - 1146486
LID - 10.3389/fonc.2023.1146486 [doi]
LID - 1146486
AB  - Genetic diagnostics of hematological malignancies has evolved dramatically over 
      the years, from chromosomal banding analysis to next-generation sequencing, with 
      a corresponding increased capacity to detect clinically relevant prognostic and 
      predictive biomarkers. In diagnostics of patients with chronic lymphocytic 
      leukemia (CLL), we currently apply fluorescence in situ hybridization 
      (FISH)-based analysis to detect recurrent chromosomal aberrations (del(11q), 
      del(13q), del(17p) and trisomy 12) as well as targeted sequencing (IGHV and TP53 
      mutational status) for risk-stratifying purposes. These analyses are performed 
      before start of any line of treatment and assist in clinical decision-making 
      including selection of targeted therapy (BTK and BCL2 inhibitors). Here, we 
      present the current view on the genomic landscape of CLL, including an update on 
      recent advances with potential for clinical translation. We discuss different 
      state-of-the-art technologies that are applied to enable precision diagnostics in 
      CLL and highlight important genomic markers with current prognostic and/or 
      predictive impact as well as those of prospective clinical relevance. In the 
      coming years, it will be important to develop more comprehensive genomic analyses 
      that can capture all types of relevant genetic aberrations, but also to develop 
      highly sensitive assays to detect minor mutations that affect therapy response or 
      confer resistance to targeted therapies. Finally, we will bring up the potential 
      of new technologies and multi-omics analysis to further subclassify the disease 
      and facilitate implementation of precision medicine approaches in this still 
      incurable disease.
CI  - Copyright (c) 2023 Mollstedt, Mansouri and Rosenquist.
FAU - Mollstedt, John
AU  - Mollstedt J
AD  - Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, 
      Sweden.
FAU - Mansouri, Larry
AU  - Mansouri L
AD  - Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, 
      Sweden.
FAU - Rosenquist, Richard
AU  - Rosenquist R
AD  - Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, 
      Sweden.
AD  - Clinical Genetics, Karolinska University Hospital, Solna, Sweden.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20230321
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC10080996
OTO - NOTNLM
OT  - chronic lymphocitic leukemia
OT  - genomic aberrations
OT  - next-generation sequencing
OT  - precision diagnostics
OT  - precision medicine
COIS- RR received honoraria from AbbVie, AstraZeneca, Illumina, Janssen, and Roche. The 
      remaining authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2023/04/11 06:00
MHDA- 2023/04/11 06:01
PMCR- 2023/01/01
CRDT- 2023/04/10 04:17
PHST- 2023/01/17 00:00 [received]
PHST- 2023/03/10 00:00 [accepted]
PHST- 2023/04/11 06:01 [medline]
PHST- 2023/04/10 04:17 [entrez]
PHST- 2023/04/11 06:00 [pubmed]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2023.1146486 [doi]
PST - epublish
SO  - Front Oncol. 2023 Mar 21;13:1146486. doi: 10.3389/fonc.2023.1146486. eCollection 
      2023.