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  • Title: Trisomy 12 in chronic lymphoid leukemias--a metaphase and interphase cytogenetic analysis.
    Author: Döhner H, Pohl S, Bulgay-Mörschel M, Stilgenbauer S, Bentz M, Lichter P.
    Journal: Leukemia; 1993 Apr; 7(4):516-20. PubMed ID: 8464229.
    Abstract:
    Trisomy 12 has been shown to be one of the most common chromosome abnormalities in chronic lymphoid leukemias of B-cell origin, and some studies suggested that it predicts poor overall survival. We have prospectively studied 42 patients with B-cell chronic lymphocytic leukemia (B-CLL) and three patients with B-prolymphocytic leukemia (B-PLL) for the incidence of trisomy 12 and other chromosome 12 aberrations applying fluorescence in situ hybridization (ISH) and conventional G-banding analysis. Dual-color hybridization experiments using centromere-12-specific DNA probes were performed for interphase cytogenetics. A subset of patients (n = 11) was analyzed using a DNA library for painting of chromosome 12. The incidence of trisomy/partial trisomy 12 was 18% (8/45 patients; 6/42 with B-CLL and 2/3 with B-PLL) by fluorescence ISH, and 11% (5/45 patients; 4/42 with B-CLL including one patient with partial trisomy 12q13-qter, and 1/3 with B-PLL) on G-banding analysis. Four patients with trisomy 12 were detected by ISH alone. One of these patients only had 4.5% interphase cells with three fluorescence signals indicating the presence of a small subclone with trisomy 12. On G-banding analysis, three of the four patients had a normal karyotype, and one patient had no analyzable metaphases. In conclusion, fluorescence ISH to interphase nuclei is a sensitive method for detecting trisomy 12 in patients with chronic lymphoid leukemias.
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