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Precisionsmedicin standard vid flera hematologiska sjukdomar

Hellström Lindberg, Eva ; Cavelier, Lucia ; Cammenga, Jörg LU ; Andersson, Per Ola ; Fioretos, Thoas LU and Rosenquist, Richard (2021) In Lakartidningen 118.
Abstract

Precision diagnostics and therapy have been implemented rather early in clinical hematology due to the easy accessibility of blood and bone marrow, allowing not only for consecutive genetic analysis at diagnosis, remission and relapse, but also for culturing these cells and testing new drugs in vitro. One contributing factor has also been the relatively low number of »driver« mutations in hematologic malignancies and that some of them are gain of function mutations that are relatively easy to target by drugs. Examples of this development are ABL1-, JAK2-, and FLT3-inhibitors for the treatment of chronic myeloid leukemia, myeloproliferative neoplasms, and acute myeloid leukemia, respectively. More recently, gene panel sequencing has been... (More)

Precision diagnostics and therapy have been implemented rather early in clinical hematology due to the easy accessibility of blood and bone marrow, allowing not only for consecutive genetic analysis at diagnosis, remission and relapse, but also for culturing these cells and testing new drugs in vitro. One contributing factor has also been the relatively low number of »driver« mutations in hematologic malignancies and that some of them are gain of function mutations that are relatively easy to target by drugs. Examples of this development are ABL1-, JAK2-, and FLT3-inhibitors for the treatment of chronic myeloid leukemia, myeloproliferative neoplasms, and acute myeloid leukemia, respectively. More recently, gene panel sequencing has been introduced in clinical routine to identify genetic alterations with diagnostic, prognostic and predictive impact, and more sensitive techniques to monitor minimal residual disease are emerging. Whole genome and transcriptome sequencing are currently evaluated as the next diagnostic tool. Finally, a large number of targeted therapies are currently under development and/or undergoing clinical trials.

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Abstract (Swedish)
Precisionsmedicin i form av specifik molekylär dia­gnostik och skräddarsydd behandling är sedan länge standard för flera hematologiska sjukdomar.

Vid mer komplexa hematologiska maligniteter är genpanelsekvensering i dag ett viktigt diagnostiskt verktyg och utgör grund för prognostisk bedömning och riktad behandling.

Genpanelsekvensering kan även påvisa ärftlig predisposition för vissa hematologiska sjukdomar.

Precisionsverktyg för analys av minimal kvarvarande sjukdom efter behandling förbättrar uppföljningen.

Det finns ett stort antal precisionsläkemedel för hematologiska sjukdomar som är godkända eller befinner sig i klinisk prövning.
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author
; ; ; ; and
organization
alternative title
Precision diagnostics and therapy in hematological malignancies
publishing date
type
Contribution to journal
publication status
published
subject
in
Lakartidningen
volume
118
publisher
Swedish Medical Association
external identifiers
  • pmid:33973223
  • scopus:85105769953
ISSN
0023-7205
language
Swedish
LU publication?
yes
id
5ca37f40-07cf-4a70-9be3-e750f14c7325
date added to LUP
2022-01-03 12:18:01
date last changed
2025-01-13 20:51:42
@article{5ca37f40-07cf-4a70-9be3-e750f14c7325,
  abstract     = {{<p>Precision diagnostics and therapy have been implemented rather early in clinical hematology due to the easy accessibility of blood and bone marrow, allowing not only for consecutive genetic analysis at diagnosis, remission and relapse, but also for culturing these cells and testing new drugs in vitro. One contributing factor has also been the relatively low number of »driver« mutations in hematologic malignancies and that some of them are gain of function mutations that are relatively easy to target by drugs. Examples of this development are ABL1-, JAK2-, and FLT3-inhibitors for the treatment of chronic myeloid leukemia, myeloproliferative neoplasms, and acute myeloid leukemia, respectively. More recently, gene panel sequencing has been introduced in clinical routine to identify genetic alterations with diagnostic, prognostic and predictive impact, and more sensitive techniques to monitor minimal residual disease are emerging. Whole genome and transcriptome sequencing are currently evaluated as the next diagnostic tool. Finally, a large number of targeted therapies are currently under development and/or undergoing clinical trials.</p>}},
  author       = {{Hellström Lindberg, Eva and Cavelier, Lucia and Cammenga, Jörg and Andersson, Per Ola and Fioretos, Thoas and Rosenquist, Richard}},
  issn         = {{0023-7205}},
  language     = {{swe}},
  publisher    = {{Swedish Medical Association}},
  series       = {{Lakartidningen}},
  title        = {{Precisionsmedicin standard vid flera hematologiska sjukdomar}},
  volume       = {{118}},
  year         = {{2021}},
}