TY - JOUR
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.
N1 - Publisher Copyright:
© 2023 The Authors
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)
UR - http://www.scopus.com/inward/record.url?scp=85170425291&partnerID=8YFLogxK
UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=purepublist2023&SrcAuth=WosAPI&KeyUT=WOS:001071157000001&DestLinkType=FullRecord&DestApp=WOS
U2 - 10.1016/j.lrr.2023.100387
DO - 10.1016/j.lrr.2023.100387
M3 - Article
C2 - 37701905
SN - 2213-0489
VL - 20
SP - 100387
JO - Leukemia Research Reports
JF - Leukemia Research Reports
M1 - 100387
ER -