Genomic landscape of para-skeletal and extramedullary
plasmacytomas in multiple myeloma patients

a 2025

Genomic landscape of para-skeletal and extramedullary plasmacytomas in multiple myeloma patients

ŠTORK, Martin; Jana KOTAŠKOVÁ; Eva ONDROUŠKOVÁ; Andrea MAREČKOVÁ; Klára MENŠÍKOVÁ et al.

Základní údaje

Originální název

Genomic landscape of para-skeletal and extramedullary plasmacytomas in multiple myeloma patients

Název česky

Genomický profil paraskeletálních a extramedulárních plazmocytomů u pacientů s mnohočetným myelomem

Autoři

Vydání

European Hematology Association (EHA) 2025 Congress, 2025

Další údaje

Jazyk

angličtina

Typ výsledku

Konferenční abstrakt

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Označené pro přenos do RIV

Organizační jednotka

Lékařská fakulta

Klíčová slova česky

genomika, extramedulární mnohočetný myelom

Klíčová slova anglicky

genomics; extramedullary; multiple myeloma

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 11. 8. 2025 22:43, MUDr. Martin Štork, Ph.D.

Anotace

V originále

Extramedullary disease (EMM) in multiple myeloma (MM) represents an aggressive, treatment-resistant subtype with poor prognosis. It manifests as para-skeletal plasmacytomas (PS) originating from osteolytic lesions or as extramedullary plasmacytomas (EMD) developing in soft tissues without bone involvement. We performed a comprehensive molecular analysis of 40 EMM tissue samples, including targeted next-generation sequencing (NGS), interphase FISH, and flow cytometry, with parallel analyses of 15 matched bone marrow plasma cell (BMPC) samples. EMD plasmacytomas were characterized by frequent 1p deletions, rare NOTCH1/2 mutations, and low NCAM (CD56) expression, whereas PS plasmacytomas showed a higher prevalence of KRAS mutations. Comparative analysis between EMM plasma cells and BMPCs revealed newly acquired MAPK pathway mutations and biallelic inactivation of tumor suppressor genes in a subset of cases. These results demonstrate distinct genomic and phenotypic profiles of EMD and PS subtypes, underscoring the molecular heterogeneity of EMM and its potential relevance for targeted therapeutic strategies.

Citovat

ŠTORK, Martin; Jana KOTAŠKOVÁ; Eva ONDROUŠKOVÁ; Andrea MAREČKOVÁ; Klára MENŠÍKOVÁ; Nela SENDLEROVÁ; Ivanna BOICHUK; Michaela BILČÍKOVÁ; Johana MAYEROVÁ; Tereza RŮŽIČKOVÁ; Zdeňka KNECHTOVÁ; Zuzana JELÍNKOVÁ; Milan KRTIČKA; Vladimír NEKUDA; Tomáš ROHAN; Marek BORSKÝ; Viera HRABČÁKOVÁ; Sabina ŠEVČÍKOVÁ; Marie JAROŠOVÁ a Luděk POUR. Genomic landscape of para-skeletal and extramedullary plasmacytomas in multiple myeloma patients. In European Hematology Association (EHA) 2025 Congress. 2025.

@proceedings{2511847,
   author = {Štork, Martin and Kotašková, Jana and Ondroušková, Eva and Marečková, Andrea and Menšíková, Klára and Sendlerová, Nela and Boichuk, Ivanna and Bilčíková, Michaela and Mayerová, Johana and Růžičková, Tereza and Knechtová, Zdeňka and Jelínková, Zuzana and Krtička, Milan and Nekuda, Vladimír and Rohan, Tomáš and Borský, Marek and Hrabčáková, Viera and Ševčíková, Sabina and Jarošová, Marie and Pour, Luděk},
   booktitle = {European Hematology Association (EHA) 2025 Congress},
   keywords = {genomics; extramedullary; multiple myeloma},
   language = {eng},
   title = {Genomic landscape of para-skeletal and extramedullary plasmacytomas in multiple myeloma patients},
   url = {https://onlinelibrary.wiley.com/loi/25729241},
   year = {2025}
}

TY  - CONF
ID  - 2511847
AU  - Štork, Martin - Kotašková, Jana - Ondroušková, Eva - Marečková, Andrea - Menšíková, Klára - Sendlerová, Nela - Boichuk, Ivanna - Bilčíková, Michaela - Mayerová, Johana - Růžičková, Tereza - Knechtová, Zdeňka - Jelínková, Zuzana - Krtička, Milan - Nekuda, Vladimír - Rohan, Tomáš - Borský, Marek - Hrabčáková, Viera - Ševčíková, Sabina - Jarošová, Marie - Pour, Luděk
PY  - 2025
TI  - Genomic landscape of para-skeletal and extramedullary plasmacytomas in multiple myeloma patients
KW  - genomics
KW  - extramedullary
KW  - multiple myeloma
UR  - https://onlinelibrary.wiley.com/loi/25729241
N2  - Extramedullary disease (EMM) in multiple myeloma (MM) represents an aggressive, treatment-resistant subtype with poor prognosis. It manifests as para-skeletal plasmacytomas (PS) originating from osteolytic lesions or as extramedullary plasmacytomas (EMD) developing in soft tissues without bone involvement. We performed a comprehensive molecular analysis of 40 EMM tissue samples, including targeted next-generation sequencing (NGS), interphase FISH, and flow cytometry, with parallel analyses of 15 matched bone marrow plasma cell (BMPC) samples. EMD plasmacytomas were characterized by frequent 1p deletions, rare NOTCH1/2 mutations, and low NCAM (CD56) expression, whereas PS plasmacytomas showed a higher prevalence of KRAS mutations. Comparative analysis between EMM plasma cells and BMPCs revealed newly acquired MAPK pathway mutations and biallelic inactivation of tumor suppressor genes in a subset of cases. These results demonstrate distinct genomic and phenotypic profiles of EMD and PS subtypes, underscoring the molecular heterogeneity of EMM and its potential relevance for targeted therapeutic strategies.
ER  -

ŠTORK, Martin; Jana KOTAŠKOVÁ; Eva ONDROUŠKOVÁ; Andrea MAREČKOVÁ; Klára MENŠÍKOVÁ; Nela SENDLEROVÁ; Ivanna BOICHUK; Michaela BILČÍKOVÁ; Johana MAYEROVÁ; Tereza RŮŽIČKOVÁ; Zdeňka KNECHTOVÁ; Zuzana JELÍNKOVÁ; Milan KRTIČKA; Vladimír NEKUDA; Tomáš ROHAN; Marek BORSKÝ; Viera HRABČÁKOVÁ; Sabina ŠEVČÍKOVÁ; Marie JAROŠOVÁ a Luděk POUR. Genomic landscape of para-skeletal and extramedullary plasmacytomas in multiple myeloma patients. In \textit{European Hematology Association (EHA) 2025 Congress}. 2025.

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