苏州宏元生物科技有限公司

泌尿系统癌症（膀胱癌、输尿管癌、肾盂肾癌）筛查与辅助诊断

• 注册号：NCT03998371

• 发起方：Changhai Hospital

• 招募对象：
  血尿待查
  膀胱癌电切术后

• 简介：
  Chromosomal instability (CIN) refers to ongoing chromosome segregation errors throughout consecutive cell divisions. CIN is a hallmark of human cancer, and it is associated with poor prognosis, metastasis, and therapeutic resistance. Analyzing CIN of the DNA extracted from urothelial cells in urine samples seems a promising method for diagnosing, monitoring, and predicting the prognosis of bladder cancer patients. CIN can be assessed using experimental techniques such as bulk DNA sequencing, fluorescence in situ hybridization (FISH), or conventional karyotyping. However, these techniques are either time-consuming or non-specific. We here intend to study whether a new method named Ultrasensitive Chromosomal Aneuploidy Detection (UCAD), which is based on low-coverage whole-genome sequencing, can be used to analyze CIN thus help diagnosing and treating bladder cancer patients.
  CIN results from errors in chromosome segregation during mitosis, leading to structural and numerical chromosomal abnormalities. It will generate genomic heterogeneity that acts as a substrate for natural selection. Furthermore, it is proved that tumors with aneuploidies and polyploidy resulting from whole-genome doubling are related with metastasis, treatment resistance, and decreased overall survival. It is estimated that 60%-80% of human tumors exhibit chromosomal abnormalities suggestive of CIN. CIN positively correlates with tumor stage and is enriched in relapsed as well as metastatic tumor specimens. Due to the ubiquity of CIN in cancer cells, it is a potentially non-invasive way to detect CIN in the urothelial cells from the urine sample for diagnosing and monitoring bladder cancer patients. UCAD is a new method to detecting CIN in the DNA sample from patients, including extracting DNA from urine, analyzing DNA by low-coverage whole-genome sequencing, processing the data by bio-information techniques, and finally optimizing the management of bladder cancer patients.
  The investigators intended to conduct a prospective study by analyzing urine samples from bladder cancer patients and control groups that without any tumor in the urinary system or other organs to compare the specificity and sensitivity of UCAD test for diagnosing urothelial carcinoma to other modalities, such as urine cytology or fluorescence in situ hybridization (FISH).

• 案例：

• 状态：招募中，联系我们

乳腺癌术后复发与耐药监控

• 项目编号：2018C04G1361147

• 发起方：中国科学院大学附属肿瘤医院(浙江省肿瘤医院)

• 招募对象：
  乳腺癌根治术后
  其它实体瘤根治术后

• 简介：
  乳腺癌是欧美国家女性发病率排名第一的恶性肿瘤，据估计2017年美国新发乳腺癌25万余例，相关死亡4万余例。我国曾经是乳腺癌低发国家，但近年来发病率以3％-4％的速度递增，现已成为我国女性发病率最高的恶性肿瘤，据估计2015年我国乳腺癌新发病例达27.24万，乳腺癌相关死亡7.07万例，发病率和死亡率分别占我国女性恶性肿瘤的首位和第6位。
  乳腺癌广泛存在染色体拷贝数异常，为验证患者血液样本中染色体拷贝数异常是否可用于筛查肿瘤复发，通过低深度NGS分析激素受体阳性乳腺癌患者的cfDNA，所有患者为初次复发，且未经一线抗肿瘤治疗，研究发现肿瘤来源染色体拷贝数变异的血液学分析可准确地发现乳腺癌复发，阳性率为88.2%（30/34），远高于CA153的35.3%和CEA的41.2%。2018年JCO文章，通过cfDNA检测，评估转移性TNBC患者的体细胞拷贝数变异（somatic copy number alterations，SCNAs）情况，并明确这些SCNAs与总生存的关系。回顾性分析164例TNBC患者，为单中心数据，低覆盖度NGS检测cfNDA，在96.3%的患者中检测到肿瘤DNA碎片，在63.9%的患者中检测到SCNAs，在原发灶和转移性TNBC中，拷贝数变异谱高度一致。对比原发性TNBC、公共数据库TCGA和METABRIC，在转性TNBC中，特定基因SCNAs更常见，如NOTCH2、AKT2和AKT3。以10%作为cfDNA肿瘤碎片的阈值，与乳腺癌的生存显著相关（中位6.4个月和15.9个月），是独立预后因子（HR=2.14，95% CI 1.4 - 3.8，P < 0.001）。

• 案例：

• 状态：招募中，联系我们

肿瘤综合治疗后微量残留检测

• 注册号：NCT04122092

• 发起方：第二军医大学附属医院

• 招募对象：
  骨髓瘤治疗后
  实体瘤R0术后
  其他综合治疗后

• 简介：
  Despite the significantly higher complete remission rates and improved survival achieved over the last decade，multiple myeloma (MM) patients continue to relapse due to persistence of minimal residual disease (MRD). Currently, numerous studies have evaluated the prognostic value of MRD by detecting immunophenotypic and immunoglobulin (Ig) gene rearrangements from bone marrow aspiration samples. Here we intend to study the clinical utility of Ultrasensitive Chromosomal Aneuploidy Detection (UCAD) as an MRD assay, which is based on plasma cell-free DNA low-coverage whole-genome sequencing. UCAD is non-invasive and applicable for tumors with high heterogeneity and extramedullary invasions.

• 案例：

• 状态：招募中，联系我们

高危胆结石患者胆囊癌筛查

• 注册号：

• 发起方：东方肝胆医院

• 招募对象：
  高危胆结石
  高危胆息肉

• 简介：
  

• 案例：

• 状态：待启动，联系我们

肿瘤免疫治疗快速反应检测

• 注册号：

• 发起方：仁济医院、肺科医院

• 招募对象：
  肺癌免疫治疗后
  肝癌免疫治疗后
  其他实体瘤免疫治疗后

• 简介：
  

• 案例：

• 状态：待启动，联系我们