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遺傳性癌症基因檢測與遺傳諮詢計畫

In this study, we will include 500 patients at high risk for hereditary cancer over the course of three years. Clinical physicians will refer patients who meet the inclusion criteria to genetic counseling. Physician will explain the nature of the study and the genetic counselor will explain the content of genetic test, the meaning and the impact of genetic test for them. After patients fully understand the meaning of this study, they will sign the informed consent form to be included in this trial. For patients enrolled into the trial, genetic counselor will discuss personal and family cancer history with patients and collect medical data, such as numbers of colorectal hamartomatous polyps, associated pathology report, medical images from MRI, CT and X-ray. From these information, genetic counselor can evaluate the risk of hereditary cancer for patients and family members.

 

Test will be completed around 3 to 4 weeks and the report will be available to the genetic counselor. The genetic counselor will discuss the test result with physician, and evaluate the best possible treatment options. In addition to discussing with physicians, the genetic counselor will explain the final treatment suggestions and the meaning of testing with patients and family members, to assist in the evaluation of the risk of inherited cancer and treatment decision making.

以循環腫瘤細胞分析平台預測神經脊譜系腫瘤的藥物治療反應

The integrated project proposed on exploring a novel circulating tumor cell-based approach for personalized oncology for cancers from neural crest origin. Also we are developing novel microfluidic devices for rapid analysis of cellular behavior from patient-derived cancer cells.

During the first quarter of the project, we have recruited 3 patients (a total of 18 up to now) and prepared expanded circulating tumor cells from these patients. These samples have been analyzed for the drug sensitivity profile and immunophenotyping. The clinical treatment outcome 3 months after drug treatment has been shown to correlate with CTC sensitivity profile. Also we have kicked off one clinical trial focusing on TRK fusion positive pediatric tumors (including neuroblastoma). The manuscript for one of the microfluidic devices (Digi-SACA, the automated CTC counting device) have been accepted for publication in Sensors and Actuators B. Two mamuscripts based on research done in subprojects #1 and #3 have been prepared and will be submitted during the second quarter.

With regards to each project, the research progress is on schedule. For project #1, we successfully identified STAT3-driven cancer stemness determines homing capability of breast cancer cells MCF7 and MDAMD231 to the floating alginate hydrogel, which depends on stiffness and surface porosity of the hydrogel composition. Also cell lines from small cell lung cancers are being tested in the same system and compare to breast cancer cells on its homing capability. For project#2, automated counting of PDL1+ circulating tumor cells with Digi-SACA and automated platform is done for 3 patient samples. Also IDO1 activity assay based on rare cells is being planned. For project#3, surface marker-based characterization of EMT phenotype indicated that SCLC cells are highly enriched in EMT phenotype, which may correlate to its aggressive metastatic and drug resistance behavior. For project#4, a case with recurrent neuroblastoma who failed alectinib treatment was found to have CTC cells that are refractory to alectinib with eSelect technology before the patient initiated the treatment. This is an encouraging signal for our system to be used as a tool to drive personalized oncology decision in the setting of rare diseases.