Journal of Shandong University (Health Sciences) ›› 2021, Vol. 59 ›› Issue (11): 35-40.doi: 10.6040/j.issn.1671-7554.0.2021.0791

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Fluorescence in situ hybridization in the diagnosis of 197 cases of chronic lymphocytic leukemia

ZENG Rui1,2, HU Xinting1,2, YUN Xiaoya1,2, TIAN Zheng1,2, LI Qing1, LIU Jie1, ZHANG Ya1,2, WANG Xin1,2   

  1. 1. Department of Hematology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan 250021, Shandong, China;
    2. Department of Hematology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan 250021, Shandong, China
  • Published:2021-11-11

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Abstract: Objective To explore the application of fluorescence in situ hybridization(FISH)in the diagnosis and prognosis assessment of chronic lymphocytic leukemia(CLL). Methods The 197 CLL patients treated during Jan. 2014 and Jan. 2021 received molecular genetic tests with RB1(13q14.1), D13S25(13q14.3), P53(17p13.1), ATM(11q22.3)and CSP12(+12), 62 of whom underwent karyotype analysis and 75 immunoglobulin heavy chain variable region(IGHV)mutation status detection. Results The total detection rate of abnormal molecular genetic markers was 56.4%(111/197). D13S25(13q14.3)accounted for 63.1%(70/111), followed by RB1(13q14.1)43.2%(48/111), p53(17p13.1)29.7%(33/111), ATM(11q22.3)22.5%(25/111), and CSP12(+12)13.5%(15/111). Patients with 2 chromosomal abnormalities accounted for 34.2%(38/111), among whom RB1 and D13S25 double-positive patients accounted for 25.2%(28/111). Patients with 3 or more chromosomal abnormalities accounted for 16.2%(18/111). The positive rate of FISH was significantly higher than that of conventional cytogenetics(P<0.001). The results of FISH test were correlated with the International Prognostic Index for Chronic Lymphocytic Leukemia(CLL-IPI). The proportion of high-risk and very high-risk patients with positive FISH test results was larger than that with negative FISH test results(P=0.009). The CLL-IPI scores of FISH-P53 positive patients were high or very high(P<0.001). Among FISH positive patients, 78% were IGHV mutated and 22% were IGHV unmated. Conclusion FISH is a critical molecular genetic detection method with higher sensitivity than chromosome karyotype analysis, which can provide rational guidance for the prognosis evaluation and treatment of CLL patients.

Key words: Chronic lymphocytic leukemia, Fluorescence in situ hybridization, Cytogenetics, Prognosis, Chromosome karyotype

CLC Number: 

  • R733.7
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