Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity

We describe genomic findings in an AML case with isochromosome 7p, i(7)(p10), in which SNP array analysis uncovered an additional 7.07-Mb 20q deletion not detected by karyotyping. Several AML cases with i(7)(p10) as an isolated cytogenetic finding have been previously reported. Based on consequent l...

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Autores principales: Nejati, Reza, Neumann-Domer, Ryan, Liu, Zemin, Koslosky, Lori, Neumann-Domer, Erin, Pei, Jianming, Wang, Y. Lynn, Testa, Joseph R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493252/
https://www.ncbi.nlm.nih.gov/pubmed/37701905
http://dx.doi.org/10.1016/j.lrr.2023.100387
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author Nejati, Reza
Neumann-Domer, Ryan
Liu, Zemin
Koslosky, Lori
Neumann-Domer, Erin
Pei, Jianming
Wang, Y. Lynn
Testa, Joseph R.
author_facet Nejati, Reza
Neumann-Domer, Ryan
Liu, Zemin
Koslosky, Lori
Neumann-Domer, Erin
Pei, Jianming
Wang, Y. Lynn
Testa, Joseph R.
author_sort Nejati, Reza
collection PubMed
description We describe genomic findings in an AML case with isochromosome 7p, i(7)(p10), in which SNP array analysis uncovered an additional 7.07-Mb 20q deletion not detected by karyotyping. Several AML cases with i(7)(p10) as an isolated cytogenetic finding have been previously reported. Based on consequent loss of 7q, we propose that AML with i(7)(p10) represents a distinct entity belonging in the WHO group -7/7q-, which represents one of the genetic abnormalities defining AML, myelodysplasia-related. Additionally, the focal del(20q) identified here adds support for a specific common region of deletion in 20q in myeloid malignancies, implicating a small number of candidate genes.
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spelling pubmed-104932522023-09-12 Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity Nejati, Reza Neumann-Domer, Ryan Liu, Zemin Koslosky, Lori Neumann-Domer, Erin Pei, Jianming Wang, Y. Lynn Testa, Joseph R. Leuk Res Rep Article We describe genomic findings in an AML case with isochromosome 7p, i(7)(p10), in which SNP array analysis uncovered an additional 7.07-Mb 20q deletion not detected by karyotyping. Several AML cases with i(7)(p10) as an isolated cytogenetic finding have been previously reported. Based on consequent loss of 7q, we propose that AML with i(7)(p10) represents a distinct entity belonging in the WHO group -7/7q-, which represents one of the genetic abnormalities defining AML, myelodysplasia-related. Additionally, the focal del(20q) identified here adds support for a specific common region of deletion in 20q in myeloid malignancies, implicating a small number of candidate genes. Elsevier 2023-08-29 /pmc/articles/PMC10493252/ /pubmed/37701905 http://dx.doi.org/10.1016/j.lrr.2023.100387 Text en © 2023 The Authors 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
Nejati, Reza
Neumann-Domer, Ryan
Liu, Zemin
Koslosky, Lori
Neumann-Domer, Erin
Pei, Jianming
Wang, Y. Lynn
Testa, Joseph R.
Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
title Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
title_full Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
title_fullStr Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
title_full_unstemmed Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
title_short Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity
title_sort isochromosome 7p, i(7)(p10): a rare aml, myelodysplasia-related entity
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493252/
https://www.ncbi.nlm.nih.gov/pubmed/37701905
http://dx.doi.org/10.1016/j.lrr.2023.100387
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