A preliminary analysis of somatic exome mutations of minimal residual disease in multiple myeloma

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F18%3A00070060" target="_blank" >RIV/65269705:_____/18:00070060 - isvavai.cz</a>

Výsledek na webu

<a href="https://www.prolekare.cz/casopisy/transfuze-hematologie-dnes/2018-supplementum-2/posterova-sekce-105545" target="_blank" >https://www.prolekare.cz/casopisy/transfuze-hematologie-dnes/2018-supplementum-2/posterova-sekce-105545</a>

DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

A preliminary analysis of somatic exome mutations of minimal residual disease in multiple myeloma

Popis výsledku v původním jazyce

Our aim is to explore mutational spectrum in minimal residual disease (MRD) of multiple myeloma (MM) with focus on possible treatment targets. Aberrant plasma cells were collected according to surface markers CD38, CD45, CD56 and CD19 from 7 MRD patients treated with Velclade based regimen. DNA was isolated and amplified by the Single cell amplification kit (QIAGEN). SureSelect Human All Exon V6 Kit was used to prepare libraries. 100 bp reads were sequenced on Illumina HiSeq 4000 platform with expected coverage 100x. Data were bioinformatically processed by BWA (hg38), VarScan2 and custom post-processing pipeline for annotation and filtering of variants. All resulting genes were compared with the M3P panel. We were able to detect genomic variants in 7 patients with MM MRD. This work represents a primer step towards the identification of new therapeutic targets in multiple myeloma minimal residual disease.

Název v anglickém jazyce

A preliminary analysis of somatic exome mutations of minimal residual disease in multiple myeloma

Popis výsledku anglicky

Our aim is to explore mutational spectrum in minimal residual disease (MRD) of multiple myeloma (MM) with focus on possible treatment targets. Aberrant plasma cells were collected according to surface markers CD38, CD45, CD56 and CD19 from 7 MRD patients treated with Velclade based regimen. DNA was isolated and amplified by the Single cell amplification kit (QIAGEN). SureSelect Human All Exon V6 Kit was used to prepare libraries. 100 bp reads were sequenced on Illumina HiSeq 4000 platform with expected coverage 100x. Data were bioinformatically processed by BWA (hg38), VarScan2 and custom post-processing pipeline for annotation and filtering of variants. All resulting genes were compared with the M3P panel. We were able to detect genomic variants in 7 patients with MM MRD. This work represents a primer step towards the identification of new therapeutic targets in multiple myeloma minimal residual disease.

Druh

O - Ostatní výsledky

CEP obor

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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)

Rok uplatnění

2018

Kód důvěrnosti údajů

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