Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2023 Feb 25

PMID 36833278

Authors

Maiia Soloveva

Maksim Solovev

Elena Nikulina

Natalya Risinskaya

Bella Biderman

Igor Yakutik

Tatiana Obukhova

Larisa Mendeleeva

Affiliations

Soon will be listed here.

Abstract

Multiple myeloma (MM) is characterized by heterogeneity of tumor cells. The study of tumor cells from blood, bone marrow, plasmacytoma, etc., allows us to identify similarities and differences in tumor lesions of various anatomical localizations. The aim of this study was to compare the loss of heterozygosity (LOH) by tumor cells by assessing STR profiles of different MM lesions. We examined paired samples of plasma circulating tumor DNA (ctDNA) and CD138+ bone marrow cells in MM patients. For patients with plasmacytomas (66% of 38 patients included), the STR profile of plasmacytomas was also studied when biopsy samples were available. Diverse patterns of LOH were found in lesions of different localization for most patients. LOH in plasma ctDNA, bone marrow, and plasmacytoma samples was found for 55%, 71%, and 100% of patients, respectively. One could expect a greater variety of STR profiles in aberrant loci for patients with plasmacytomas. This hypothesis was not confirmed-no difference in the frequency of LOH in MM patients with or without plasmacytomas was found. This indicates the genetic diversity of tumor clones in MM, regardless of the presence of extramedullar lesions. Therefore, we conclude that risk stratification based on molecular tests performed solely on bone marrow samples may not be sufficient for all MM patients, including those without plasmacytomas. Due to genetic heterogeneity of MM tumor cells from various lesions, the high diagnostic value of liquid biopsy approaches becomes obvious.

Citing Articles

Loss of Heterozygosity and Mutations in the RAS-ERK Pathway Genes in Tumor Cells of Various Loci in Multiple Myeloma.

Soloveva M, Solovev M, Risinskaya N, Nikulina E, Yakutik I, Biderman B Int J Mol Sci. 2024; 25(17).

PMID: 39273371 PMC: 11394882. DOI: 10.3390/ijms25179426.

Accumulation of STR-Loci Aberrations in Subclones of Jurkat Cell Line as a Model of Tumor Clonal Evolution.

Risinskaya N, Glinshchikova O, Makarik T, Kozhevnikova Y, Chabaeva J, Kulikov S Genes (Basel). 2023; 14(3).

PMID: 36980843 PMC: 10048572. DOI: 10.3390/genes14030571.

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