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

Reza Nejati; Ryan Neumann-Domer; Zemin Liu; Lori Koslosky; Erin Neumann-Domer; Jianming Pei; Y. Lynn Wang; Joseph R. Testa

doi:10.1016/j.lrr.2023.100387

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

Reza Nejati
, Ryan Neumann-Domer
, Zemin Liu
, Lori Koslosky
, Erin Neumann-Domer
, Jianming Pei
, Y. Lynn Wang
, Joseph R. Testa

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

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.

Original language	English
Article number	100387
Pages (from-to)	100387
Journal	Leukemia Research Reports
Volume	20
DOIs	https://doi.org/10.1016/j.lrr.2023.100387
State	Published - Jan 2023

Keywords

20q deletion
7q deletion
Acute myeloid leukemia
Chromosome microarray analysis
Mutations
i(7p)

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10.1016/j.lrr.2023.100387

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@article{ea065f7fc3ab4fcf96b5593100f2cdca,

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

abstract = "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.",

keywords = "20q deletion, 7q deletion, Acute myeloid leukemia, Chromosome microarray analysis, Mutations, i(7p)",

author = "Reza Nejati and Ryan Neumann-Domer and Zemin Liu and Lori Koslosky and Erin Neumann-Domer and Jianming Pei and Wang, \{Y. Lynn\} and Testa, \{Joseph R.\}",

note = "Publisher Copyright: {\textcopyright} 2023 The Authors",

year = "2023",

month = jan,

doi = "10.1016/j.lrr.2023.100387",

language = "English",

volume = "20",

pages = "100387",

journal = "Leukemia Research Reports",

issn = "2213-0489",

publisher = "Elsevier Ltd.",

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T1 - Isochromosome 7p, i(7)(p10)

T2 - A rare AML, myelodysplasia-related entity

AU - Nejati, Reza

AU - Neumann-Domer, Ryan

AU - Liu, Zemin

AU - Koslosky, Lori

AU - Neumann-Domer, Erin

AU - Pei, Jianming

AU - Wang, Y. Lynn

AU - Testa, Joseph R.

PY - 2023/1

Y1 - 2023/1

N2 - 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.

AB - 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.

KW - 20q deletion

KW - 7q deletion

KW - Acute myeloid leukemia

KW - Chromosome microarray analysis

KW - Mutations

KW - i(7p)

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DO - 10.1016/j.lrr.2023.100387

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SN - 2213-0489

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JO - Leukemia Research Reports

JF - Leukemia Research Reports

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ER -

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

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New Myelodysplasia Findings from Temple University Health System Described [Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity]

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

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New Myelodysplasia Findings from Temple University Health System Described [Isochromosome 7p, i(7)(p10): A rare AML, myelodysplasia-related entity]

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