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Current breakthrough of Annoroad’s application of target region sequencing on exploring the Molecular prognostic stratification of MDS was published on Blood


AbstractXu, Y., Li, Y., Hou, G., Chen, C., & Yu, L. (2016). Applicationof Next Generation Sequencing for Prognostic Stratification in Myelodysplastic Syndromes. Blood, 128(22), 5559. Accessed December 04, 2016.



American Society of Hematology( ASH) is the biggest global association focused on the etiology and treatment of blood disease. On December 3-6, 2016, The 58th annual meeting of American Society of Hematology was held in Santiago. The conference demonstrated updating progress on hematology research. Annnroad and Chinese PLA General Hospital collaborated making a big progress on application of next generation sequencing for prognostic stratification in Myelodysplastic Syndromes. The research caught attention in the conference and was selected into  abstracts of ASH 2016, and was published on Volume 128 of Blood.

1. Introduction of Myelodysplastic Syndromes

Myelodysplastic Syndromes (MDS) are a group of diverse bone marrow disorders in which the bone marrow does not produce enough healthy blood cells. About 50 percent of the patients will develop with Acute Mvelogenous Leukemia (AML), which is more dangerous.

 MDS has a very high heterogeneity. The occurrence and progression of MDA involves many genes. In clinical research, a lot of somatic gene mutations were found in MDS patients. These mutations are potentially valuable for diagnosis and prognostic stratification of MDS. For example, the mutation of DNMT3A influences the poor prognosis of MDS. The mutation of TP53 is occur more often in complex chromosome. Whereas SF3B1 usually appears in RARS, and it’s bounded up with better prognosis. Some genes, include TET2、RUNX1、ASXL1、DNMT3A、EZH2、N-RAS、SF381, are potential for clinical judgment, as recommanded in NCCN clinical guideline. With research progresses, gene mutation test will play an important role in clinical judgment assisting、refined prognosis assessment and precision medicine.


2. Exploration of MDS prognostic stratification by NGS

Collaborating with Chinese PLA General Hospital, Annoroad designed a gene panel to enrich 111 hematologic disease related genes. Target region sequencing was performed on 125 MDS patients' blood. The mutations to biological and clinical phenotypes was further explored:

1)   89% patients carried at least one mutagenic gene;

2)   Mutations of ASXL1( 16.8%), RUNX1( 14.4%)和TET2( 12%) appear in more than 10% patients;

3)  Mutations of GATA1/2, TP53 and DNMT3A are adverse prognostic factors; mutations of RUNX1, KRAS, NRAS, SRSF2 and TET2 are adverse factors of PFS.

4)  Mutations of KRAS、NRAS、GATA1/2 and DNMT3A independently result in poorer prognosis. But mutation of IDH1/2 is a favor one to PFS.

5)  The analyse of HMAs therapy and patients with mythelation-related gene mutations patients showed that clinical effectiveness is: geneWT with non-HMAs> geneWT with HMAs> genemut with HMAs> genemut with non-HMAs

Target region sequencing enriches specific region of genome or genes to sequence. It is cost effective and efficient. Based on target region sequencing, mutation screening of MDS gene is a feasible and reliable prognostic evaluation method. It will help to make progress in personalized treatment decisions for MDS patients.