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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

<a href="/cs/project/NV17-30089A" target="_blank" >NV17-30089A: Detailní genomická analýza zbytkových klonů mnohočetného myelomu: přístup pro individualizaci cílené terapie</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2022

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Blood advances

ISSN

2473-9537

e-ISSN

2473-9537

Svazek periodika

6

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

368-372

Kód UT WoS článku

000753857400002

EID výsledku v databázi Scopus

2-s2.0-85123507705