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

Martina Zátopková; Tereza Ševčíková; Viola Fanfani; Zuzana Chyra; Lucie Rihova; Renata Bezdekova; David Žihala; Kateřina Growková; Jana Filipova; Lucie Černá; Lucie Broskevičová; Fedor Kryukov; Jiří Minařík; Jana Smejkalová; Vladimir Maisnar; Lubica Harvanová; Ludek Pour; Alexandra Jungova; Tereza Popková; Juli Rodriguez Bago; Anjana Anilkumar Sithara; Matous Hrdinka; Tomas Jelinek; Michal Šimíček; Giovanni Stracquadanio; Roman Hajek

doi:10.1182/bloodadvances.2020003876

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

Martina Zátopková, Tereza Ševčíková, Viola Fanfani, Zuzana Chyra, Lucie Rihova, Renata Bezdekova, David Žihala, Kateřina Growková, Jana Filipova, Lucie Černá, Lucie Broskevičová, Fedor Kryukov, Jiří Minařík, Jana Smejkalová, Vladimir Maisnar, Lubica Harvanová, Ludek Pour, Alexandra Jungova, Tereza Popková, Juli Rodriguez BagoAnjana Anilkumar Sithara, Matous Hrdinka, Tomas Jelinek, Michal Šimíček, Giovanni Stracquadanio, Roman Hajek

Research output: Contribution to journal › Article › peer-review

Abstract

Multiple myeloma (MM) measurable residual disease (MRD) persisting after treatment is an adverse prognostic factor for progression free survival (PFS) and overall survival.1Genomic mutations occurred in the remaining clonal aberrant plasma cells (A-PCs) are linked to the development of drug resistance and disease relapse.2 Thus, personalised treatment based on the genomic profile of MRD could be highly beneficial and ultimately increase patients’ survival. However, while large-scale sequencing studies have characterised the genome of many malignancies including MM,3–8 the genomic mutations present in MM MRD are at the beginning of investigation.9 Here, we set up an exome sequencing analysis to identify genomic mutations characteristic for MM MRD and explore if they could mediate drug response, resistance or disease progression.

Original language	English
Number of pages	9
Journal	Blood Advances
Early online date	9 Sep 2021
DOIs	https://doi.org/10.1182/bloodadvances.2020003876
Publication status	E-pub ahead of print - 9 Sep 2021

Keywords

multiple myeloma
mutation
precision medicine
residual tumor

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10.1182/bloodadvances.2020003876

HájekEtal2021BAMutationLandscapeOfMultipleMyelomaMeasurableFinal published version, 349 KB

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Zátopková, M., Ševčíková, T., Fanfani, V., Chyra, Z., Rihova, L., Bezdekova, R., Žihala, D., Growková, K., Filipova, J., Černá, L., Broskevičová, L., Kryukov, F., Minařík, J., Smejkalová, J., Maisnar, V., Harvanová, L., Pour, L., Jungova, A., Popková, T., ... Hajek, R. (2021). Mutation landscape of multiple myeloma measurable residual disease: identification of targets for precision medicine. Blood Advances. https://doi.org/10.1182/bloodadvances.2020003876

Zátopková, Martina ; Ševčíková, Tereza ; Fanfani, Viola ; Chyra, Zuzana ; Rihova, Lucie ; Bezdekova, Renata ; Žihala, David ; Growková, Kateřina ; Filipova, Jana ; Černá, Lucie ; Broskevičová, Lucie ; Kryukov, Fedor ; Minařík, Jiří ; Smejkalová, Jana ; Maisnar, Vladimir ; Harvanová, Lubica ; Pour, Ludek ; Jungova, Alexandra ; Popková, Tereza ; Bago, Juli Rodriguez ; Anilkumar Sithara, Anjana ; Hrdinka, Matous ; Jelinek, Tomas ; Šimíček, Michal ; Stracquadanio, Giovanni ; Hajek, Roman. / Mutation landscape of multiple myeloma measurable residual disease : identification of targets for precision medicine. In: Blood Advances. 2021.

@article{d7e8db05db7543abaf3590910afd434f,

title = "Mutation landscape of multiple myeloma measurable residual disease: identification of targets for precision medicine",

abstract = "Multiple myeloma (MM) measurable residual disease (MRD) persisting after treatment is an adverse prognostic factor for progression free survival (PFS) and overall survival.1Genomic mutations occurred in the remaining clonal aberrant plasma cells (A-PCs) are linked to the development of drug resistance and disease relapse.2 Thus, personalised treatment based on the genomic profile of MRD could be highly beneficial and ultimately increase patients{\textquoteright} survival. However, while large-scale sequencing studies have characterised the genome of many malignancies including MM,3–8 the genomic mutations present in MM MRD are at the beginning of investigation.9 Here, we set up an exome sequencing analysis to identify genomic mutations characteristic for MM MRD and explore if they could mediate drug response, resistance or disease progression. ",

keywords = "multiple myeloma, mutation, precision medicine, residual tumor",

author = "Martina Z{\'a}topkov{\'a} and Tereza {\v S}ev{\v c}{\'i}kov{\'a} and Viola Fanfani and Zuzana Chyra and Lucie Rihova and Renata Bezdekova and David {\v Z}ihala and Kate{\v r}ina Growkov{\'a} and Jana Filipova and Lucie {\v C}ern{\'a} and Lucie Broskevi{\v c}ov{\'a} and Fedor Kryukov and Ji{\v r}{\'i} Mina{\v r}{\'i}k and Jana Smejkalov{\'a} and Vladimir Maisnar and Lubica Harvanov{\'a} and Ludek Pour and Alexandra Jungova and Tereza Popkov{\'a} and Bago, {Juli Rodriguez} and {Anilkumar Sithara}, Anjana and Matous Hrdinka and Tomas Jelinek and Michal {\v S}im{\'i}{\v c}ek and Giovanni Stracquadanio and Roman Hajek",

year = "2021",

month = sep,

day = "9",

doi = "10.1182/bloodadvances.2020003876",

language = "English",

journal = "Blood Advances",

issn = "2473-9529",

publisher = "American Society of Hematology",

}

Zátopková, M, Ševčíková, T, Fanfani, V, Chyra, Z, Rihova, L, Bezdekova, R, Žihala, D, Growková, K, Filipova, J, Černá, L, Broskevičová, L, Kryukov, F, Minařík, J, Smejkalová, J, Maisnar, V, Harvanová, L, Pour, L, Jungova, A, Popková, T, Bago, JR, Anilkumar Sithara, A, Hrdinka, M, Jelinek, T, Šimíček, M, Stracquadanio, G & Hajek, R 2021, 'Mutation landscape of multiple myeloma measurable residual disease: identification of targets for precision medicine', Blood Advances. https://doi.org/10.1182/bloodadvances.2020003876

Mutation landscape of multiple myeloma measurable residual disease : identification of targets for precision medicine. / Zátopková, Martina; Ševčíková, Tereza; Fanfani, Viola; Chyra, Zuzana; Rihova, Lucie; Bezdekova, Renata; Žihala, David; Growková, Kateřina; Filipova, Jana; Černá, Lucie; Broskevičová, Lucie; Kryukov, Fedor; Minařík, Jiří; Smejkalová, Jana; Maisnar, Vladimir; Harvanová, Lubica; Pour, Ludek; Jungova, Alexandra; Popková, Tereza; Bago, Juli Rodriguez; Anilkumar Sithara, Anjana; Hrdinka, Matous; Jelinek, Tomas; Šimíček, Michal; Stracquadanio, Giovanni; Hajek, Roman.

In: Blood Advances, 09.09.2021.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Mutation landscape of multiple myeloma measurable residual disease

T2 - identification of targets for precision medicine

AU - Zátopková, Martina

AU - Ševčíková, Tereza

AU - Fanfani, Viola

AU - Chyra, Zuzana

AU - Rihova, Lucie

AU - Bezdekova, Renata

AU - Žihala, David

AU - Growková, Kateřina

AU - Filipova, Jana

AU - Černá, Lucie

AU - Broskevičová, Lucie

AU - Kryukov, Fedor

AU - Minařík, Jiří

AU - Smejkalová, Jana

AU - Maisnar, Vladimir

AU - Harvanová, Lubica

AU - Pour, Ludek

AU - Jungova, Alexandra

AU - Popková, Tereza

AU - Bago, Juli Rodriguez

AU - Anilkumar Sithara, Anjana

AU - Hrdinka, Matous

AU - Jelinek, Tomas

AU - Šimíček, Michal

AU - Stracquadanio, Giovanni

AU - Hajek, Roman

PY - 2021/9/9

Y1 - 2021/9/9

N2 - Multiple myeloma (MM) measurable residual disease (MRD) persisting after treatment is an adverse prognostic factor for progression free survival (PFS) and overall survival.1Genomic mutations occurred in the remaining clonal aberrant plasma cells (A-PCs) are linked to the development of drug resistance and disease relapse.2 Thus, personalised treatment based on the genomic profile of MRD could be highly beneficial and ultimately increase patients’ survival. However, while large-scale sequencing studies have characterised the genome of many malignancies including MM,3–8 the genomic mutations present in MM MRD are at the beginning of investigation.9 Here, we set up an exome sequencing analysis to identify genomic mutations characteristic for MM MRD and explore if they could mediate drug response, resistance or disease progression.

AB - Multiple myeloma (MM) measurable residual disease (MRD) persisting after treatment is an adverse prognostic factor for progression free survival (PFS) and overall survival.1Genomic mutations occurred in the remaining clonal aberrant plasma cells (A-PCs) are linked to the development of drug resistance and disease relapse.2 Thus, personalised treatment based on the genomic profile of MRD could be highly beneficial and ultimately increase patients’ survival. However, while large-scale sequencing studies have characterised the genome of many malignancies including MM,3–8 the genomic mutations present in MM MRD are at the beginning of investigation.9 Here, we set up an exome sequencing analysis to identify genomic mutations characteristic for MM MRD and explore if they could mediate drug response, resistance or disease progression.

KW - multiple myeloma

KW - mutation

KW - precision medicine

KW - residual tumor

U2 - 10.1182/bloodadvances.2020003876

DO - 10.1182/bloodadvances.2020003876

M3 - Article

C2 - 34500459

JO - Blood Advances

JF - Blood Advances

SN - 2473-9529

ER -

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

Abstract

Keywords

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