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Ann Lab Med. Nov 2012; 32(6): 445–449.
Published online Oct 17, 2012. doi:  10.3343/alm.2012.32.6.445
PMCID: PMC3486942
Additional Genomic Aberrations Identified by Single Nucleotide Polymorphism Array-Based Karyotyping in an Acute Myeloid Leukemia Case with Isolated del(20q) Abnormality
Chorong Hahm, M.D.,1 Yeung Chul Mun, M.D.,2 Chu Myong Seong, M.D.,2 Wha Soon Chung, M.D.,1 and Jungwon Huh, M.D.corresponding author1
1Department of Laboratory Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
2Department of Internal Medicine, Ewha Womans University School of Medicine, Seoul, Korea.
corresponding authorCorresponding author.
Corresponding author: Jungwon Huh. Department of Laboratory Medicine, Ewha Womans University School of Medicine, Mokdong Hospital, 1071 Anyangcheon-ro, Yangcheon-gu, Seoul 158-710, Korea. Tel: +82-02-2650-5287, Fax: +82-02-2650-5091, JungWonH/at/ewha.ac.kr
Received April 9, 2012; Revised August 13, 2012; Accepted September 20, 2012.
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.
Keywords: Deletion, Chromosome 20, Isolated, AML, Cytogenetics, Single nucleotide polymorphism, Array
Articles from Annals of Laboratory Medicine are provided here courtesy of
Korean Society for Laboratory Medicine