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

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 hete...

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Autores principales: Soloveva, Maiia, Solovev, Maksim, Nikulina, Elena, Risinskaya, Natalya, Biderman, Bella, Yakutik, Igor, Obukhova, Tatiana, Mendeleeva, Larisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957234/
https://www.ncbi.nlm.nih.gov/pubmed/36833278
http://dx.doi.org/10.3390/genes14020351
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author Soloveva, Maiia
Solovev, Maksim
Nikulina, Elena
Risinskaya, Natalya
Biderman, Bella
Yakutik, Igor
Obukhova, Tatiana
Mendeleeva, Larisa
author_facet Soloveva, Maiia
Solovev, Maksim
Nikulina, Elena
Risinskaya, Natalya
Biderman, Bella
Yakutik, Igor
Obukhova, Tatiana
Mendeleeva, Larisa
author_sort Soloveva, Maiia
collection PubMed
description 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.
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spelling pubmed-99572342023-02-25 Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma Soloveva, Maiia Solovev, Maksim Nikulina, Elena Risinskaya, Natalya Biderman, Bella Yakutik, Igor Obukhova, Tatiana Mendeleeva, Larisa Genes (Basel) Article 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. MDPI 2023-01-29 /pmc/articles/PMC9957234/ /pubmed/36833278 http://dx.doi.org/10.3390/genes14020351 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Soloveva, Maiia
Solovev, Maksim
Nikulina, Elena
Risinskaya, Natalya
Biderman, Bella
Yakutik, Igor
Obukhova, Tatiana
Mendeleeva, Larisa
Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
title Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
title_full Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
title_fullStr Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
title_full_unstemmed Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
title_short Loss of Heterozygosity in the Circulating Tumor DNA and CD138+ Bone Marrow Cells in Multiple Myeloma
title_sort loss of heterozygosity in the circulating tumor dna and cd138+ bone marrow cells in multiple myeloma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957234/
https://www.ncbi.nlm.nih.gov/pubmed/36833278
http://dx.doi.org/10.3390/genes14020351
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