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Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome

The deletion of the long arm of chromosome 20 is a characteristic cytogenetic marker of myeloid disorders. Rarely, it is also found in lymphoproliferative diseases, including multiple myeloma (MM). The role of 20q- in MM is not fully understood. In the cases of MM which co-exist with primary or ther...

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Autor principal: Mitev, Lubomir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524739/
https://www.ncbi.nlm.nih.gov/pubmed/34703758
http://dx.doi.org/10.1016/j.lrr.2021.100273
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author Mitev, Lubomir
author_facet Mitev, Lubomir
author_sort Mitev, Lubomir
collection PubMed
description The deletion of the long arm of chromosome 20 is a characteristic cytogenetic marker of myeloid disorders. Rarely, it is also found in lymphoproliferative diseases, including multiple myeloma (MM). The role of 20q- in MM is not fully understood. In the cases of MM which co-exist with primary or therapy-related dysplasia, this anomaly is mostly linked to the occurrence of myeloid neoplasms. On the other hand 20q- is found as an isolated anomaly in cases with MM that have no dysplastic features or is not accompanied with other hematological diseases which suggests that the 20q deletion is also important for the development of MM. This report describes an isolated 20q- anomaly in a case of a light chain myeloma co-existing with myelodysplastic syndrome (MDS). Fluorescent in situ hybridization (FISH) experiments have demonstrated the presence in the patient's bone marrow of a basic clone (stemline) with deletion of the PTPRT gene (located at 20q13.11) and two sidelines: one with deletion of the PTPRT and MAPRE1 genes (located at 20q11.12) found in the mature granulocytes and one with deletion of PTPRT and duplication of MAPRE1 found in the myeloma cells. These data have indicated that 20q- has appeared in the multipotent precursor cells and affects both myeloid and lymphoid lineage by two different molecular mechanisms - one possibly related to the pathogenesis of the MDS and another to the pathogenesis of the MM.
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spelling pubmed-85247392021-10-25 Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome Mitev, Lubomir Leuk Res Rep Article The deletion of the long arm of chromosome 20 is a characteristic cytogenetic marker of myeloid disorders. Rarely, it is also found in lymphoproliferative diseases, including multiple myeloma (MM). The role of 20q- in MM is not fully understood. In the cases of MM which co-exist with primary or therapy-related dysplasia, this anomaly is mostly linked to the occurrence of myeloid neoplasms. On the other hand 20q- is found as an isolated anomaly in cases with MM that have no dysplastic features or is not accompanied with other hematological diseases which suggests that the 20q deletion is also important for the development of MM. This report describes an isolated 20q- anomaly in a case of a light chain myeloma co-existing with myelodysplastic syndrome (MDS). Fluorescent in situ hybridization (FISH) experiments have demonstrated the presence in the patient's bone marrow of a basic clone (stemline) with deletion of the PTPRT gene (located at 20q13.11) and two sidelines: one with deletion of the PTPRT and MAPRE1 genes (located at 20q11.12) found in the mature granulocytes and one with deletion of PTPRT and duplication of MAPRE1 found in the myeloma cells. These data have indicated that 20q- has appeared in the multipotent precursor cells and affects both myeloid and lymphoid lineage by two different molecular mechanisms - one possibly related to the pathogenesis of the MDS and another to the pathogenesis of the MM. Elsevier 2021-10-13 /pmc/articles/PMC8524739/ /pubmed/34703758 http://dx.doi.org/10.1016/j.lrr.2021.100273 Text en © 2021 The Author(s) https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Mitev, Lubomir
Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
title Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
title_full Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
title_fullStr Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
title_full_unstemmed Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
title_short Evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
title_sort evidence of two different molecular mechanisms as a consequence of an isolated 20q- abnormality in a case of multiple myeloma accompanied with myelodysplastic syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8524739/
https://www.ncbi.nlm.nih.gov/pubmed/34703758
http://dx.doi.org/10.1016/j.lrr.2021.100273
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