Abd El-Aal Amany A, Bayoumy Ibrahim R, Basyoni Maha M A, Abd El-Aal Asmaa A, Emran Ashraf M, Abd El-Tawab Magda S, Badawi Manal A, Zalat Rabab M, Diab Tarek M
Parasitology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Parasitology Department, Theodor Bilharz Research Institute, Giza, Egypt.
Mol Cytogenet. 2015 Jan 22;8(1):1. doi: 10.1186/s13039-014-0104-5. eCollection 2015.
Exploration of genetic changes during active Schistosoma infection is important for anticipation and prevention of chronic sequelae. This study aimed to explore the genomic instability in chromosomal and cellular kinetics in Egyptians suffering from uncomplicated active schistosomiasis haematobium infection in addition to chronic schistosomiasis haematobium cases complicated by bilharzial-associated bladder cancer (BAC).
This study was conducted on 46 schistosomiasis haemotobium cases, 22 were active (Viable S. haematobium eggs in urine samples as detected by microscopy) and 24 were chronic complicated with bladder cancer. Three cytogenetic techniques were applied; the first was quantitative nuclear-morphocytometry by means of which the Feulgen-stained nuclei were analyzed for parameters including shape, size, integrated optical-density and nuclear area. The second was Fluorescent In-Situ Hybridization (FISH) for specific p53gene-locus of chromosome 17 and the third technique was karyotyping. Concerning chronic complicated cases, the mean ± SD of DNA-content in urinary bladder tissue sections was 3.18 ± 0.65. Five samples (20.83%) of bladder tissue sections of chronic complicated cases showed diploid nuclei, 6 urinary bladder tissue samples (25%) were tetraploid, while 13 bladder samples (54.16%) were aneuploid. Epithelial cells of urine samples demonstrated aneuploidy (mean ± SD = 3.74 ± 0.36).Nuclear contents showed high proliferative DNA index in all urinary epithelial cells. In the acute uncomplicated group, nuclear-DNA of urinary epithelial cells was found diploid with mean nuclear-DNA content of 2.2 ± 0.16SD. Half of these diploid smears had a high proliferation index. The difference between nuclear DNA-contents in acute and chronic cases was significant (P = 0.0001). FISH technique for specific p53gene-locus and karyotyping were done on urinary bladder tissue specimens and peripheral blood monocytes of 8 chronic cases respectively. Three samples (37.5%) with invasive BAC had a deletion of the p53 gene. Karyotyping showed three cases out of the 8 chronic schistosomiasis haematobium patients with chromosomal fragmentations.
DNA morphometry was valuable in detection of gross genetic changes in urothelial tissues. It is an important prognostic factor in established schistosomiasis haematobium induced bladder malignancy. It has the great advantage of being applicable on urine cells making it suitable for the prediction of a tendency towards genetic instability in active schistosomiasis haematobium patients.
探索血吸虫活跃感染期间的基因变化对于预测和预防慢性后遗症至关重要。本研究旨在探讨单纯性急性埃及血吸虫病感染患者以及合并血吸虫相关性膀胱癌（BAC）的慢性埃及血吸虫病患者的染色体和细胞动力学中的基因组不稳定性。
本研究对46例埃及血吸虫病患者进行了研究，其中22例为急性感染（显微镜检查尿液样本中可检测到活的埃及血吸虫卵），24例为合并膀胱癌的慢性感染。应用了三种细胞遗传学技术；第一种是定量核形态细胞计量学，通过该技术分析福尔根染色的细胞核的参数，包括形状、大小、积分光密度和核面积。第二种是针对17号染色体特定p53基因位点的荧光原位杂交（FISH），第三种技术是核型分析。对于慢性合并病例，膀胱组织切片中DNA含量的平均值±标准差为3.18±0.65。慢性合并病例的膀胱组织切片中有5个样本（20.83%）显示为二倍体核，6个膀胱组织样本（25%）为四倍体，而13个膀胱样本（54.16%）为非整倍体。尿液样本的上皮细胞显示为非整倍体（平均值±标准差=3.74±0.36）。所有尿路上皮细胞的核内容物均显示出高增殖性DNA指数。在急性非合并组中，尿路上皮细胞的核DNA为二倍体，平均核DNA含量为2.2±0.16标准差。这些二倍体涂片中有一半具有高增殖指数。急性和慢性病例的核DNA含量差异显著（P=0.0001）。分别对8例慢性病例的膀胱组织标本和外周血单核细胞进行了特定p53基因位点的FISH技术和核型分析。3例（37.5%）侵袭性BAC样本存在p53基因缺失。核型分析显示，8例慢性埃及血吸虫病患者中有3例存在染色体断裂。
DNA形态计量学在检测尿路上皮组织的总体基因变化方面具有重要价值。它是已确诊的埃及血吸虫病诱发膀胱恶性肿瘤的一个重要预后因素。它具有可应用于尿细胞的巨大优势，使其适用于预测急性埃及血吸虫病患者的基因不稳定倾向。
