Prognostic significance of del(20q) in patients with hematological malignancies.
ABSTRACT Deletions of the long arm of chromosome 20 represent a common chromosomal abnormality associated with myeloid malignancies, in particular with myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). Using G-banding cytogenetic techniques, we found clones with del(20q) in 36 patients with hematological malignancies examined in our laboratory during the years 2001-2003: in 23 patients as a sole cytogenetic aberration and in 13 patients together with other chromosomal changes. Fluorescence in situ hybridization (FISH) with a probe specific for the 20q12 region was used in all cases to confirm the presence of the clone with deletion. For patients with additional or complex chromosomal rearrangements, multicolor FISH (M-FISH) analysis was performed. Statistical evaluation of the prognostic impact of sex, age, diagnosis, and karyotype was performed. The survival time correlated with the type of chromosomal aberration; no significant differences in survival were found for sex, age, and diagnosis.
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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.Annals of Laboratory Medicine 11/2012; 32(6):445-9. · 1.48 Impact Factor
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ABSTRACT: GNAS1 gene is located at the long arm of chromosome 20 (q13.32). GNAS1 gene deletion has never been investigated in MDS. A GNAS1 activating mutation (R201) was recently found in MDS. We applied FISH and DHPLC plus sequencing to investigate GNAS1 gene in MDS cases with and without del(20q) at karyotype.Leukemia research 01/2014; · 2.36 Impact Factor
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ABSTRACT: The clinical and hematological characteristics and the prognostic significance of del(20q) were investigated in a consecutive series of 213 myeloid malignancies. In the analyses, the cases were divided into three subgroups according to their diagnosis or four subgroups according to cytogenetic data. Patients in the myeloproliferative neoplasms (MPN) subgroup had high white blood cell (WBC) and platelet (Plt) at initial diagnosis. Del(20q) occurred predominantly in older men. Sole del(20q) was observed most often in myelodysplastic syndromes (MDS), while del(20q) as a part of complex karyotypes was observed predominantly in acute myeloid leukemia (AML). The most frequent additional abnormalities accompanying del(20q) were -5/del(5q), -7/del(7q) and +8. T(20;21)(q11;q11) and double del(20q) were two rare but recurrent abnormalities secondary to del(20q). In all types of diseases, patients with a sole del(20q) had a favorable prognosis. The presence of any additional abnormality with del(20q) had an unfavorable outcome. Ider(20q) had an unfavorable prognosis. Patients with the minor del(20q) clone had a better median survival than those with the major del(20q) clone.Cancer Genetics 01/2014; · 1.92 Impact Factor