Aneuploid Detection Of Chromosomes 3, 8, 10, 20 And Y In Esophageal Squamous Cell Carcinoma As Well As Correlation Analysis With The Clinical Pathological Parameters

Objectives: Although the diagnostic and therapeutic modalities of esophageal squamous cell carcinoma (ESCC) have been improved considerably, the five-year survival rate is still not satisfied. Malignant tumor can cause the number and structure of chromosome changing. It is appeared many chromosomal abnormalities, but so far no characteristic chromosomal changes were found. The aim of this paper was to detect the aberration of the chromosome 3, 8, 10, 20 and Y via the fluorescence in situ hybridization(FISH)in ESCC and analyse the feasibility of using probe sets via FISH as an auxiliary diagnosis to detect ESCC. Method:①To detect the numberial aberrations of the chromosomes in ESCC, we used fluorescence in situ hybridization(FISH)performed on interphase nuclei prepared from 20 adjacent esophageal carcinoma tissues and 219 esophageal carcinoma tissues with specific centromeric probes for chromosomes 3, 8, 10, 20 and Y. The five chromosomes were selected out based on the prework done by predecessors in the laboratory.②Then the statistical correlation was analysed betweeen the chromosomal numerial aberration of ESCC and the clinical pathological parameters.③The aneuploid rate of every chromosome and the positive rate of each probe set which was respectively composed of chromosome 3,8,10, 20 and 3,8,20,Y was calculated exactly. Results:①It was found that the chromosome 3, 8, 10, 20 and Y has chromosome aberrations in adjacent esophageal carcinoma tissues. We decided the criterion of chromosome aberration of eaophageal carcinoma as 15%, polysomy criterion as 10%.②The main aberrations of the euchromosomes was chromosome gain, including trisome, tetrasome and polysome.③The gain rates of the four euchromosomes were 84.5%(175/207), 77.5%(162/209), 63.4%(130/205), 83.2%(173/208) and the frequencies of polysome for each euchromosomes were 24.6%(51/207), 34.9% (73/209), 23.4%(48/205), 31.7% (66/208), respectively. Loss of chromosome Y was observed in 61.2% of male patients.④The combination of the four chromosome probes 3, 8, 10 and 20 detected 74.5% of ESCC and 85.0% of male patients were detected by the combination of 3, 8, 20 and Y.⑤It was found that chromosome 20 gain and polysomy of chromosome 3, 8 were correlated with the age(P = 0.039,P = 0.041,P = 0.007); Polysomy of chromosome 8 was related with TNM stage and pathological grade(P = 0.032,P = 0.030); chromosome 3 gain was correlated with histopathological grading(P = 0.019). Conclusion:①FISH can detected the changes in chomosome and gene level which was early before morphological techniques.②It was found that the chromosome 3,8,10,20 and Y each expresses the high frequency of aberration.③The positive rate of the two probe sets detecting the ESCC was 74.5% and 85.0%(male). These results indicated that both sets of the four centromeric probes combinations provided candidate biomarkers for the diagnosis of esophageal squamous cell carcinoma.