Genetron Health Releases 22 New Research Results at American Association for Cancer Research Annual Meeting (AACR) 2021

BEIJING--()--Genetron Holdings Limited (“Genetron Health” or the “Company”, NASDAQ:GTH), a leading precision oncology platform company in China that specializes in molecular profiling tests, early cancer screening products and companion diagnostics development, today announced the release of 22 research results at the American Association for Cancer Research Annual Meeting 2021 (AACR 2021).

The results were from a series of studies that Genetron Health conducted with 13 leading hospitals in China. The Company leveraged original research and innovative technologies such as integrated DNA and RNA sequencing in gene fusion detection, a new MSI (microsatellite instability) detection algorithm model, its "One-Step Seq” method, and core products such as Onco Panscan and comprehensive sarcoma gene detection tests.

These studies analyzed the spread of various types of cancers throughout the Chinese population, covering lung cancer, intestinal cancer, pancreatic cancer, nervous system tumors, thymic carcinoma, and other types of cancers. More specifically, the studies focused on these cancers’ inheritance, mutation, and fusion characteristics. They paid particular attention to the validity of immunotherapy markers for various types of cancers, as well as rare cancer cases and new therapeutic treatments. These studies provided important insights that can enable the accurate diagnosis and treatment of cancer, facilitating the design of effective products in the future.

Dr. Yunfu Hu, Genetron Health’s Chief Medical Officer, said, "Genetron Health is committed to building a strong bridge between scientific research and clinical applications. The studies’ results show that the Company’s innovative technologies and products can help to further analyze the characteristics of cancer genomics for different types of cancer, optimize conventional technologies, and provide ideas for new product design, so as to promote the healthy development of translational medicine. For example, for soft tissue sarcoma (STS), the use of integrated DNA and RNA sequencing in gene fusion detection can greatly improve the detection rate of STS gene fusion, which may benefit more STS patients.

“For hereditary cancers, the screening method used to detect Li-Fraumeni syndrome will also improve cancer detection rates in these patients and provide more intervention opportunities for them; for colorectal cancer, our analysis of KMT2C/2D inactivation mutations is also pointing to more possibilities for immunotherapy patients. And lastly, our work on rare cancer cases and the experimentation of new treatments is furthering the development of diagnosis and treatment research for these various types of patients," Hu added.

Exploring Ways to Optimize Conventional Technologies

To overcome the DNA-sequencing limitations involved with detecting gene fusion, Genetron Health optimized the use of conventional technologies in Study #2288. During this study, more accurate, efficient, and low-cost detection of gene fusion mutations was achieved at the RNA sequencing level. This was evaluated and verified in a STS cohort of 142 Chinese patients. Compared with DNA detection alone, integrated DNA and RNA sequencing improved the detection rate of STS fusion by 177%, which could provide clinical benefits for more STS patients.

Study #2080 optimized the algorithm that detects MSI through next generation sequencing (NGS). The study was conducted on a large cohort of 2,523 samples with various types of cancers. According to the study results, the optimized algorithm was 99.9% consistent with PCR (polymerase chain reaction) testing – the industry’s current gold standard. The positive predictive value of MSI-H was 98.73%, and the negative predictive value of MSS was 99.92%.

Focusing on Hereditary Cancers

Two studies (#1464, #2557) provided screening methods for Li-Fraumeni syndrome, an inherited condition that is characterized by an increased risk for certain types of cancer. These methods utilized in-depth analysis of germline mutations and investigated the distribution of genetic characteristics for pancreatic cancer in the Chinese population, providing evidence and additional ideas for the diagnosis and treatment of hereditary cancers.

Investigating Gene Mutation and Fusion Characteristics

Nine studies (#2217, #2163, #2223, #2216, #2215, #2313, #2252, #2183, #2182) examined the mutation and fusion characteristics of soft tissue sarcoma, melanoma, neuroendocrine tumors, non-small cell lung cancer, thymic carcinoma, small bowel adenocarcinoma, ampullary carcinoma, etc. The studies focused on finding potential targets for precise therapeutic treatment, drug-resistant targets and effective countermeasures.

Probing Immunotherapy Markers

Four studies (#1639, #1640, #1641, #1681) investigated the predictive effects of KMT2C/D loss-of-function mutations, DDR signaling pathway-related gene mutations, ARID1A mutations, and BRCA1/2 mutations on immunotherapy treatments for a wide range of cancer types, providing further insights.

Spotlight on Rare Cancer Cases and New Treatment Therapies

Five studies (#0803, #0422, #1209, #1199, #0625) detected special molecular abnormalities in patients with Lynch syndrome-related lung cancer, metastatic melanoma, anaplastic thyroid carcinoma, papillary thyroid carcinoma and liposarcoma, respectively. In these studies, scientists used molecular detection to diagnose and classify such cancers, and new, targeted therapy and immunotherapy schemes were adopted for these patients, benefiting them in the long run.




Enrichment and screening of LFS patients by analyzing TP53 germline mutations of a Chinese cancer cohort


Genome profiling of thymic carcinoma identifies putative driver mutations in the NF-κB signaling pathway


Germline mutation landscape in a large cohort of Chinese pancreatic cancer patients


Molecular diagnosis and immunotherapy of a rare lung carcinoma patient associated with PMS2 c.1144+1G>A mutation-driven Lynch syndrome


Sequential targeted therapy and immunotherapy of a BRAF positive metastatic melanoma patient with BRAF inhibitor vemurafenib, MEK inhibitor cobimetnib and a novel PD-1 antibody Sintilimab


Genomic profiling of small bowel adenocarcinoma reveals targetable mutations in multiple signaling pathways


More somatic mutations can be detected in cerebrospinal fluid ctDNA of NSCLC patients with brain metastases


Evaluation of somatic and germline mutations in ampullary carcinoma reveals actionable targets in multiple signaling pathways


An effective treatment for recurrent and inoperable anaplastic thyroid carcinoma using sintilimab and anlotinib: a case report


Correlation of BRCA1/2 mutations with response to immune checkpoint inhibitors in colorectal cancer


The predictive values of ARID1A mutations for response to immune checkpoint inhibitors are varied in different types of solid tumors


Correlation of KMT2C/D loss-of-function mutations with PD-L1 expression and response to immune checkpoint inhibitors in solid tumors


Correlations of DNA damage response gene alterations with response to immune checkpoint inhibitors are different in solid tumors


Identification of gene fusions in soft tissue sarcoma improved by integrative DNA and RNA sequencing


Molecular characteristics of CDK4 and/or MDM2 amplification in Chinese soft tissue sarcoma (STS) patients


Co-amplification of CDK4 and MDM2 plus HMGA2 fusion in a patient with myogenic differentiation dedifferentiated liposarcoma


Distinct genomic features of cutaneous, acral and mucosal melanomas in a Chinese retrospective cohort


Exploration of the genomic features of pan-neuroendocrine tumors in a Chinese retrospective analysis


Landscape of RET fusion identified by next‑generation sequencing in a Chinese multi-cancer retrospective analysis


Mosaic KRAS G12S mutation associates with poor outcome in papillary thyroid carcinoma: A case report


Tumor microsatellite instability detection method using paired tumor-normal sequence data


The characteristics of ERBB2 exon 20 insertion in a large cohort of Chinese NSCLC patients

About Genetron Holdings Limited

Genetron Holdings Limited (“Genetron Health” or the “Company”) (Nasdaq:GTH) is a leading precision oncology platform company in China that specializes in cancer molecular profiling and harnesses advanced technologies in molecular biology and data science to transform cancer treatment. The Company has developed a comprehensive oncology portfolio that covers the entire spectrum of cancer management, addressing needs and challenges from early screening, diagnosis and treatment recommendations, as well as continuous disease monitoring and care. Genetron Health also partners with global biopharmaceutical companies and offers customized services and products. For more information, please visit

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Media Relations Contact
Yanrong Zhao
Genetron Health

Investor Relations Contact
Hoki Luk
Head of Investor Relations
Phone: +1 (408) 891-9255

David Deuchler, CFA
Managing Director | Gilmartin Group
Phone: (917) 209-5605


Media Relations Contact
Yanrong Zhao
Genetron Health

Investor Relations Contact
Hoki Luk
Head of Investor Relations
Phone: +1 (408) 891-9255

David Deuchler, CFA
Managing Director | Gilmartin Group
Phone: (917) 209-5605