Ring chromosome 5 in acute myeloid leukemia defined by whole-genome single nucleotide polymorphism array.
Chromosomes forming a corresponding ring cannot be clearly defined by conventional cytogenetics or FISH. Karyotypic analyses using whole-genome single nucleotide polymorphism arrays (SNP-A) may result in the identification of previously cryptic lesions and allow for more precise definition of breakpoints. We describe a case of AML with metaphase cells bearing -5, del(11)(q22), and +r. With SNP-A, a 5p-terminal deletion (11 megabases [Mb]), a 5q-terminal deletion (27 Mb), an 11q-interstitial deletion (29 Mb), and a 21q gain (3 Mb) were identified. Therefore, the G-banded karyotype was revised as 46, XY, r(5)(p15. 2q33.2), del(11)(q14.1q23.2), dup(21)(q22.13q22.2)[18]/46,XY[2]. SNP-A could be a powerful tool for characterizing ring chromosomes in which the involved chromosomes or bands cannot be precisely identified by conventional cytogenetics or FISH.
Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
Jungwon
J
Huh
Yeung Chul
YC
Mun
Wha Soon
WS
Chung
Chu Myong
CM
Seong
D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D008677:Metaphase; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D012303:Ring Chromosomes