Professor Yu Li: Precision Medicine of Blood Disease Develops Faster by Virtue of NGS

On June 26, 2016, sponsored by Beijing Tsinghua Changgung Hospital, and co-sponsored by Annoroad, "2016 National Young Physicians Training on Precision Medicine of Blood Disease” was successfully held in Beijing Tsinghua Changgung Hospital. More than one hundred young physicians from around the country attended the conference, with the main topic of precision medicine of blood disease, guests carried out in-depth discussion on clinical practice of precision medicine, cases analysis of blood cancer, big data and its medical applications, large-scale clinical genomics and a series of research topics.


Crush one by one: Professor Yu Li, Director of Military Blood Center talked about precise treatment of leukemia

Professor Yu Li, Director of Military Blood Center chaired the conference and made a report on AML precise medicine. Professor Yu made a comprehensive analysis of AML precision medicine to explore patients at low-risk, medium-risk and high-risk and elderly, these breakthrough and clinical results with gratifying surprise were highly concerned about young doctors and scholars.

1. Low-risk patients: chemotherapy shall be preferred to avoid the risk of transplant

Professor Yu took t (8; 21) AML patients as study objects, and pointed out that good prognosis group under cytogenetic risk stratification system had high heterogeneity. In clinical research centers, high-dose cytarabine and demethylating drugs have a significant treatment effect with low infection rate, and it can avoid the risk of transplant brings, so that it is the most important program for low-risk group of patient; by virtue of MRD, WBC karyotype or molecular variation, it can carry out effective screening on t (8; 21) AML patients with poor prognosis, which is the key to the accurate treatment of low-risk patients.

2. Medium-risk patients: urgent accurate typing is required, and autograft is recommended

For complex AML patients with medium-risk, Professor Yu shared a large-scale clinical genomics research of 301 hospitals with scholars, and showed that hierarchy based on molecular genetic brought about a breakthrough for clinical treatment. Through the combined analysis of high-throughput sequencing and multi-genes, group of Professor Yu explored retrospectively the relationship between mutations and clinical testify, successfully further stratified AML patients with medium-risk, and provided a strong aids for precise treatment of AML.

3. High-risk patients: strive for mitigation, and allogeneic transplant is recommend

For high-risk patients, allogeneic transplant therapy was recommended as a priority, strived for mitigation was the key to successful transplantation. The right judgment on high-risk patients was a guarantee to obtain timely optimal solutions.

4. Elderly patients: low dose use of methylated drugs

Professor Yu briefly reviewed the relationship between methylation and cancer, and explained the anticancer principles of demethylation drugs. In clinical trials, demethylation therapy with reduced dose can still achieve good clinical efficacy in> 60 years old patients.

Professor Yu said stratification method of cytogenetic risk had limitations at this stage, combined with the latest research results and medication guide genomics, carrying out accurate genotyping and precise treatment on AML patients with different types had great significance.

Dynamic monitoring of blood cancer: gene mutation detection in clinical diagnosis and treatment of AML

AML is an evolving cancer, with high recurrence rate and a large number of gene mutations. In the case of sharing sessions, clinicians had brought application and discovery of gene mutation detection in clinical diagnosis and treatment of AML. Through the high-throughput genome sequencing of leukemia cells, physicians screened a mutated gene characteristic, such as NPM1, and carried out dynamic monitoring; combining morphological progression of the disease, clinicians had found that the recurrence of molecular genetic was much earlier than cellular morphological. This brought a beneficial inspiration to detect mutations in clinical application of AML.

Broadly similar, and the details are different: data interpretation differences of large-scale clinical genomics

In recent years, domestic and foreign researchers also launched a series of studies on the precise treatment of leukemia. As a paper recently published in the NEJM found that, for 1540 medium-risk AML patients, the authors carried out DNA sequencing on 111 genes, which were successfully divided into 11 kinds of genetic subtypes. The conclusion has a high reference value on the followings: WHO classification and updating of NCCN guidelines, exploration of AML patients with individualized treatment, and study of the entire cancer genomes.

Since its inception in 2012, Annoroad took genetic detection of blood disease as one of the company's key development projects, taking advantage of its own NGS technology, and cooperated with PLA General Hospital and other well-known domestic hospitals. By targeting capture sequencing on thousands of cases of AML samples, preliminary study found that high-frequency spectrum of mutations in AML patients had high similarity in Europe and America, and some genetic sites existed in Europe and the Chinese population were belong to the low-frequency mutations, which may be related to the genetic background of different races.

Establish specific AML Mutation Database for Chinese people and discover AML molecular genetics refined stratification of our country has high clinical value on achieving precise treatment of leukemia.

High-throughput sequencing: provide a powerful tool for achieving precise treatment of blood disease

Since precision medicine program was launched by the country, clinical diagnosis and treatment of individual cancer development has become hot, and high-throughput sequencing technology with high-throughput and low cost has become a powerful tool for precision medicine. High-throughput sequencing and genetic analysis interpretation continues to produce precise cancer breakthrough in the medical field.

During the training courses, in order to help students grasp the new opportunities for the development of medical science and in-depth understanding of the clinical application of high-throughput gene sequencing, the conference organizers invited Dr. Sun Dawei, Vice President of Annoroad and Dr. Guo Jing, Director of Information Analysis Department to more explain the history of high-throughput sequencing technology development as well as the clinical application of big data statistics and information analysis. Doctors and scholars welcomed wonderful explanations of both people.

National young physicians training on precision medicine of blood disease will continue to run, and we welcome clinicians and scholars to participate actively to explore the development of medicine and breakthroughs in blood disease.

Project introduction to blood disease genetic detection of Annoroad

Blood disease gene detection of Annoroad made use of bone marrow or peripheral blood sample, by means of high-throughput sequencing platform, and carried out detection on 111 blood disease related genes, combined with the latest medical and scientific literature databases, and conducted notes and interpretation related to biological function and clinical significance, it can provide an important basis for clinical diagnosis and prognostic stratification, and provide clinicians with a new tool for the blood disease prognosis, and multi - gene mutation analysis was also considered as the tread of precision medicine.

Target people:

Newly diagnosed patients with various types of leukemia;

Newly diagnosed patients with myelodysplastic syndrome (MDS);

Newly diagnosed patients with myeloproliferative neoplasms (MPN);

Newly diagnosed patients with myelodysplastic / myeloproliferative neoplasms (MDS / MPN);

Suspected blood cancer patients, but the type of disease is not clear.


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