title: Additional genomic aberrations identified by single nucleotide polymorphism array-based karyotyping in an acute myeloid leukemia case with isolated del(20q) abnormality.
abstract: Prognosis is known to be better in cases with isolated chromosomal abnormalities than in those with complex karyotypes. Accordingly, del(20q) as an isolated abnormality must be distinguished from cases in which it is associated with other chromosomal rearrangements for a better stratification of prognosis. We report a case of an isolated del(20q) abnormality with additional genomic aberrations identified using whole-genome single nucleotide polymorphism array (SNP-A)-based karyotyping. A 39-yr-old man was diagnosed with AML without maturation. Metaphase cytogenetic analysis (MC) revealed del(20)(q11.2) as the isolated abnormality in 100% of metaphase cells analyzed, and FISH analysis using D20S108 confirmed the 20q deletion in 99% of interphase cells. Using FISH, other rearrangements such as BCR/ABL1, RUNX1/RUNX1T1, PML/RARA, CBFB/MYH11, and MLL were found to be negative. SNP-A identified an additional copy neutral loss of heterozygosity (CN-LOH) in the 11q13.1-q25 region. Furthermore, SNP-A allowed for a more precise definition of the breakpoints of the 20q deletion (20q11.22-q13.31). Unexpectedly, the terminal regions showed gain on chromosome 20q. The patient did not achieve complete remission; 8 months later, he died from complications of leukemic cell infiltrations into the central nervous system. This study suggests that a presumably isolated chromosomal abnormality by MC may have additional genomic aberrations, including CN-LOH, which could be associated with a poor prognosis. SNP-A-based karyotyping may be helpful for distinguishing true isolated cases from cases in combination with additional genomic aberrations not detected by MC.
authors.affiliation: Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Chorong
authors.initials: C
authors.lastname: Hahm
authors.forename: Yeung Chul
authors.initials: YC
authors.lastname: Mun
authors.forename: Chu Myong
authors.initials: CM
authors.lastname: Seong
authors.forename: Wha Soon
authors.initials: WS
authors.lastname: Chung
authors.forename: Jungwon
authors.initials: J
authors.lastname: Huh
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D020732:Cytogenetic Analysis; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D019656:Loss of Heterozygosity; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide
chemical_list: D000970:Antineoplastic Agents
keywords: AML; Array; Chromosome 20; Cytogenetics; Deletion; Isolated; Single nucleotide polymorphism