Study on Improving Clinical Diagnosis Classification and Prognosis Evaluation Criteria and Precise Early Intervention Treatment of High-risk MDS Patients Based on RNA-seq Technology
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 120
- 试验地点
- 1
- 主要终点
- RNA-seq
研究概览
简要总结
MDS is a group of malignant cloned blood diseases that originated from hematopoietic stem cells(HSC) or CD34 + progenitor cells and are still incurable. Its main characteristics are the increase of primitive cells in the bone marrow accompanied by a series or multiple developmental abnormalities(pathological hematopoiesis), the reduction of peripheral blood cells, the high risk of conversion to acute myeloid leukemia(AML), and once converted to leukemia, the treatment prognosis is very poor.The bone marrow cells of MDS patients were deeply sequenced by RNA-Seq method. Through differential gene expression analysis, different genes related to the onset and evolution of MDS were selected and their expression levels were analyzed in different subtype MDS patients. To study its significance in clinical classification, prognosis assessment and early intervention treatment, establish a new standard for clinical classification and prognosis evaluation based on genomic classification, clarify early intervention or precise treatment schemes, and significantly prolong the survival of patients, Improving the quality of life.
详细描述
(1) Study population(included in the standard): 120 patients(aged 16 to 80 years) who met the MDS diagnostic criteria in the hematology department and outpatient clinics of the four cooperative hospitals after June 2019. The diagnostic criteria refer to the WHO diagnosis of the 2016 MDS. New classification; The prognosis score was based on the 2012 MDS revised IPSS-R prognostic integral system.In control group, 5 patients with initial acute myeloid leukemia(AML-M2a) and 5 healthy human bone marrow donation volunteers. Understand the purpose of this study and sign an informed consent form.
- Clinical information collection: medical history collection of selected patients, Routine clinical tests(including peripheral blood count, serum ferritin, VitB12, folic acid, EPO levels, bone marrow smears and bone marrow biopsies, bone marrow flow cytometry, bone marrow cytogenetics, etc.) and follow-up and efficacy observations, The clinical indicators, efficacy and prognosis of the patient and the possible related genes detected were systematically analyzed.
(3) Research methods: The bone marrow specimens collected will be extracted according to the RAN-seq operating process, and the total RNA, quality test, and cDNA library of each sample cell will be extracted, 30 Million reads per sample, and Ilumina X10 PE150 will be sequenced, sequencing depth 9G clear Data. After the sequencing data is tested and passed, the original sequencing data is pre-processed: the raw data of the sequencing machine is qualitatively controlled, the sequencing fragments with the sequencing connector are removed, and the low-quality, fuzzy N bases, riboomeRNA are removed. Sequencing fragments with a length of less than 20, etc.; Transcription of sequencing data: genomic alignment of preprocessed reads and post-comparison quality control.
Gene Expression Level Analysis: Gene Expression Level Quantification, Gene Expression Level Distribution, Biological Duplication Correlation Analysis, Intersample Level Clustering and PCA Analysis.
Differential Expression Gene Analysis:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 80 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients who meet MDS diagnostic criteria with high risk of IPSS-R
排除标准
- •with no MDS
结局指标
主要结局
RNA-seq
时间窗: 2021-2022
use questionnaire to research whether the target mutation gene combination analyzed by transcription group was consistent with clinical cell morphological diagnosis and disease progression.
次要结局
未报告次要终点
研究者
Shengyun Lin
Clinical Professor
Zhejiang Provincial Hospital of TCM