Del(1p32) is an early and high-risk event in multiple myeloma patients with extraosseous disease

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ŠTORK Martin ONDROUŠKOVÁ Eva BOHÚNOVÁ Michaela BOICHUK Ivanna FRIČ Dominik ADAM Zdeněk KREJČÍ Marta SANDECKÁ Viera KNECHTOVÁ Zdeňka RADOVÁ Lenka JELÍNKOVÁ Zuzana ADLEROVÁ Taťána KRTIČKA Milan NEKUDA Vladimír BORSKÝ Marek ŠEVČÍKOVÁ Sabina JAROŠOVÁ Marie POUR Luděk

Rok publikování 2024
Druh Článek v odborném periodiku
Časopis / Zdroj Blood Cancer Journal
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.nature.com/articles/s41408-024-01131-6
Doi http://dx.doi.org/10.1038/s41408-024-01131-6
Klíčová slova multiple myeloma; Del(1p32)
Přiložené soubory
Popis Considerable discussion surrounds the prognostic relevance of chromosome 1 aberrations in multiple myeloma (MM), from which most important are gains of 1q21 region and deletions of 1p32 locus. Approximately 10–40% of MM patients develop extraosseous disease (EMM), where plasma cells outside of the bone marrow form tumors called plasmacytomas. Patients with EMM found at disease onset (primary EMM) represent a challenge due to a high risk of relapse and shorter survival. Patients developing plasmacytomas during therapy (secondary EMM) often experience an aggressive disease course, characterized by treatment resistance and early mortality. The exact mechanism of EMM development is not well known, but acquiring genetic alterations is one of the important hallmarks in clonal evolution, leading to EMM spread. Thus, we conducted a detailed evaluation of the distribution and clonal heterogeneity of chromosome 1 aberrations using paired samples from bone marrow and plasmacytoma tissue plasma cells. To assess the broader applicability of our findings, we performed a population-based cytogenetic analysis encompassing both EMM patients and a control cohort of MM patients without a history of EMM.
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