Deora Gaurav, Sambyal Vasudha, Guleria Kamlesh, Kaur Jagjeet, Uppal Manjit S, Sudan Meena
Department of Human Genetics, Guru Nanak Dev University, Amritsar, IND.
Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research, Amritsar, IND.
Cureus. 2025 May 15;17(5):e84204. doi: 10.7759/cureus.84204. eCollection 2025 May.
The varying pace of cell proliferation influences cancer development and persistent growth. S-phase fraction (SPF) refers to the percentage of cells in a tumor in the cell cycle phase, during which DNA is synthesized. SPF has been correlated with nuclear grade, tumor size, estrogen receptor, progesterone receptor, metastasis, and clinical response to neoadjuvant chemotherapy. Aberrations in the number and structure of chromosomes are a common feature of cells from solid tumors. The evaluation of the frequency of chromosomal aberrations in peripheral lymphocytes has been reported as a sensitive cytogenetic assay indicating cancer progression, especially in blood cancer. The present study assessed the correlation between chromosomal aberrations in peripheral blood lymphocytes (PBL) and SPF in the tumor tissue of esophageal cancer patients.
The present study included 172 subjects, 86 esophageal cancer patients and 86 unrelated age-gender-matched healthy controls. Cytogenetic analysis was done in 172 subjects after 72 hours of peripheral lymphocyte culturing and Giemsa-Trypsin Giemsa banding. SPF was performed in 86 tissue/biopsy samples of esophageal cancer patients using the in vitro bromodeoxyuridine technique.
Chromosomal aberrations were higher in esophageal cancer patients than in healthy controls. The mean (%) aberrant metaphases were significantly higher in patients (35.5 ± 13.3) than in controls (16.0 ± 6.6; p<0.0001). Similarly, mean (%) metaphases with structural aberrations were 16.3 ± 12.0 in patients versus 7.6 ± 5.0 in controls (p<0.0001), while mean (%) metaphases with numerical aberrations were 14.5 ± 7.4 in patients compared to 7.3 ± 4.3 in controls (p<0.0001), and mean (%) metaphases with both structural and numerical aberrations in patients were 4.8 ± 3.5 versus 1.1 ± 1.3 in controls (p<0.0001). Karyotype analysis revealed a higher frequency of chromosomal aberrations, including loss, gain, break, gap, deletion, addition, and translocations, affecting chromosomes 5, 6, 7, 8, 9, 10, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, X, and Y in esophageal cancer patients. The mean SPF for stage I, stage II, stage III, and stage IV was 8.0±5.0, 8.2±4.8, 8.7 ± 4.2, and 10.8 ± 6.7, respectively. There was no significant difference in the mean SPF among different stages of esophageal cancer patients. However, it was in concordance with the pathological stage of the patients being lowest for the stage I patients and highest for the stage IV patients. The chromosomal aberrations in PBL were also lower in stage I (10%) and higher in stage IV (67%) patients.
Chromosomal aberrations obtained in lymphocytes of esophageal cancer patients showed highly significant differences from those of unrelated healthy controls. The SPF values were higher during the disease progression, with a corresponding high and increasing chromosomal instability in lymphocytes.
细胞增殖速度的变化会影响癌症的发展和持续生长。S期分数（SPF）指肿瘤中处于细胞周期S期（即DNA合成期）的细胞百分比。SPF与核分级、肿瘤大小、雌激素受体、孕激素受体、转移以及对新辅助化疗的临床反应相关。染色体数量和结构异常是实体瘤细胞的常见特征。对外周血淋巴细胞中染色体异常频率的评估已被报道为一种敏感的细胞遗传学检测方法，可指示癌症进展，尤其是在血液系统癌症中。本研究评估了食管癌患者外周血淋巴细胞（PBL）中的染色体异常与肿瘤组织中SPF之间的相关性。
本研究纳入172名受试者，其中86例食管癌患者和86名年龄、性别匹配的无关健康对照。外周血淋巴细胞培养72小时后，对172名受试者进行细胞遗传学分析，并采用吉姆萨-胰蛋白酶-吉姆萨显带法。对86例食管癌患者的组织/活检样本采用体外溴脱氧尿苷技术检测SPF。
食管癌患者的染色体异常高于健康对照。患者中异常中期相的平均百分比（35.5±13.3）显著高于对照（16.0±6.6；p<0.0001）。同样，患者中具有结构异常的中期相平均百分比为16.3±12.0，对照为7.6±5.0（p<0.0001）；患者中具有数目异常的中期相平均百分比为14.5±7.4，对照为7.3±4.3（p<0.0001）；患者中同时具有结构和数目异常的中期相平均百分比为4.8±3.5，对照为1.1±1.3（p<0.0001）。核型分析显示，食管癌患者中染色体异常频率较高，包括染色体5、6、7、8、9、10、13、14、15、16、17、18、19、20、21、22、X和Y的缺失、增加、断裂、裂隙、缺失、添加和易位。I期、II期、III期和IV期的平均SPF分别为8.0±5.0、8.2±4.8、8.7±4.2和10.8±6.7。食管癌患者不同分期之间的平均SPF无显著差异。然而，它与患者的病理分期一致，I期患者最低，IV期患者最高。I期患者（10%）外周血淋巴细胞中的染色体异常也较低，IV期患者（67%）较高。
食管癌患者淋巴细胞中的染色体异常与无关健康对照相比存在高度显著差异。疾病进展过程中SPF值较高，淋巴细胞中相应地存在高且不断增加的染色体不稳定性。
