Mutation landscape of multiple myeloma measurable residual disease: identification of target for precision medicine

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00843989%3A_____%2F22%3AE0109367" target="_blank" >RIV/00843989:_____/22:E0109367 - isvavai.cz</a>
Result on the web
<a href="https://ashpublications.org/bloodadvances/article/6/2/368/476845/Mutation-landscape-of-multiple-myeloma-measurable" target="_blank" >https://ashpublications.org/bloodadvances/article/6/2/368/476845/Mutation-landscape-of-multiple-myeloma-measurable</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/bloodadvances.2020003876" target="_blank" >10.1182/bloodadvances.2020003876</a>

Result language
angličtina
Original language name
Mutation landscape of multiple myeloma measurable residual disease: identification of target for precision medicine
Original language description
We performed whole-exome analysis of somatic variants in a pure population of sorted MM MRD samples with low A-PC infiltration to describe its mutation pattern and to reveal its further utilization in clinics. In the heterogeneous spectrum of mutated genes, we did not reveal any unifying feature of MRD clones. In context of that, there is very interesting exposure of the mutation in the proteasome subunit PSMC6 that, despite being scarcely mutated in myeloma population, it was confirmed in cell lines as a bortezomib resistance causing mutation; thus, it may still be useful for the patient’s treatment design. The survival analysis revealed mutations in 2 RAS-associated pathways that were linked to shorter PFS and thus can be important for disease progression. Discovery of new genetic aberrations with a yet unknown role in MM opens new avenues for further investigation in preclinical studies and can provide new targets for treatment upon validation in the laboratory and clinics.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology

Project
<a href="/en/project/NV17-30089A" target="_blank" >NV17-30089A: In-depth genomic analysis of residual clone in multiple myeloma: approach for individualized targeted therapy</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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