Mutational Profiling in Colorectal Tumors to Determine Its Role in the Diagnosis, Prognostic Significance and Their Impact in Clinical Management

Mutational Profiling in Colorectal Tumors to Determine Its Role in the Diagnosis, Prognostic Significance and Their Impact in Clinical Management

Mutational Profiling in Colorectal Tumors to Determine Its Role in the Diagnosis, Prognostic Significance and Their Impact in Clinical Management

The aim of this study is to investigate mutational changes occurring in colorectal tumors, from benign polyps, malignant cancer and metastatic tumors. The investigators also plan to establish the clinical correlation, emphasizing on aspects such as the diagnosis and prognosis of disease and the specific treatment outcome. For the purpose, the investigators plan to obtain specimens from patients with colorectal tumors to extract DNA material. The specimens include tissues from either primary (mostly endoscopic biopsies specimens) or metastatic tumors (obtained from sonogram or other imaging modalities guided biopsy), as well as other humors including blood (for serum), malignant ascites, pleural effusions or other body fluids that could be related to CRCs. These patients would receive detailed explanations with regard to the investigations before signing IRB consent. At the initial stage, Wanfang Medical Center would be the only medical institution where endoscopic specimens would be collected. The project would eventually be extended to the Taipei Medical University Hospital and Shuan-Ho Hospital.

The following are items corresponding to the critical tasks of the project. Collect, annotate, and store fresh endoscopic specimens of suspicious abnormal tissue (premalignant lesions and primary tumors for genetic mutational investigation; Collect, annotate, and store fresh specimens from metastatic lesions (e.g.: hepatic metastatic tumors), under sonographic or other imaging modalities guided biopsy procedures; Collect, process, and store serum, plasma and isolate lymphocytes from blood drawn from patients with colorectal tumor; Establish a database to link materials acquisition, pathologic, and clinical information on patients who participate in the protocol; To utilize the clinical database to perform clinical and pathological correlation with the results of current and future scientific studies; To evaluate genomic and biochemical alterations in colorectal tumors. To test the effect of small molecule inhibitors on the activation of wild-type and mutant genetic alterations and/or other potential molecular targets. To correlate tumor genotype and signaling abnormalities with clinical response to genetic alterations and/or other potential molecular targets inhibitors Analysis of laboratory findings in relationship to patient demographics and clinical course.

Inclusion Criteria: Patients must have been noted with a colonic tumor (benign polyps or colorectal cancer) on colonoscopy. Patients with lesions located other than the primary tumor (metastatic lesions) such as liver metastasis, enlarged lymph nodes suspicious of metastasis, malignant pleural effusion, ascites, etc. are also enrolled. Age 20 Signed consent Exclusion Criteria: Known HIV infection Known to have bleeding tendency, precluding for biopsy Any other clinical conditions, which, in the opinion of the principal investigator, would not allow completion of this study