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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Detalles Bibliográficos
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
Descripción
Sumario: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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