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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2012.1
- 수록면
- 445 - 449 (5page)
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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.
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참고문헌 (10)
참고문헌 신청
/ / Atlas of genetics and cytogenetics in oncology and hematology
Barresi V / 2010 / Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML / Leuk Res 34 : 1539 ~ 1542
Brezinova J / 2005 / Prognostic significance of del(20q) in patients with hematological malignancies / Cancer Genet Cytogenet 160 : 188 ~ 192
Dunbar AJ / 2008 / 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutation, including novel missense substitution
Evers C / 2007 / Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated de
Barresi V / 2010 / Clonal selection of 11q CN-LOH and CBL gene mutation in a serially studied patient during MDS progression to AML / Leuk Res 34 : 1539 ~ 1542
Brezinova J / 2005 / Prognostic significance of del(20q) in patients with hematological malignancies / Cancer Genet Cytogenet 160 : 188 ~ 192
Dunbar AJ / 2008 / 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutation, including novel missense substitution
Evers C / 2007 / Molecular definition of chromosome arm 5q deletion end points and detection of hidden aberrations in patients with myelodysplastic syndromes and isolated de
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