Genetron Health Presents 17 New Research Results at

BEIJING, Apr 8, 2022 (GLOBE NEWSWIRE) — Genetron Holdings Limited (“Genetron Health” or the “Company”, Nasdaq: GTH), a leading precision oncology platform company in China specializing in the provision of molecular profiling tests, early cancer screening products and the development of companion diagnostics, today announced the publication of 17 research findings at the American Association for Cancer Research Annual Meeting 2022 (AACR 2022).

The results emerged from joint studies conducted by Genetron Health with more than 20 leading hospitals in China, leveraging the company’s proprietary “One-step Seq” technology, core products such as the multi-gene NGS panel tests – Onco PanScan™ and the comprehensive sarcoma gene test – Onco PanScan plus™. These studies include an in-depth analysis of the Chinese population, covering lung cancer, stomach cancer, colon cancer, bladder cancer, glioma, sarcoma and other cancers. More specifically, the studies focused on features of each cancer, including mutation, fusion features, heritable tumor biomarkers, immunotherapy-associated biomarker screening, and molecular detection guidance of clinical typing, diagnosis, and treatment, contributing to scientific research and the clinical full cycle. of cancer treatment.

“These results presented by Genetron Health at AACR 2022, all of which are based on the company’s innovative technologies and products, explore the characteristics of multi-cancer genomics and the clinical application of products,” said Dr. Yunfu Hu, Genetron Health’s Chief Medical Officer. “For example, using Onco PanScan plus™ integrated DNA and RNA, we have studied the genetic variation in sarcomas in children and adults. It revealed the genetic variation and HRR gene mutations in sarcomas, providing evidence for the potential use of PARP inhibitors in sarcoma patients. In adopting the company’s Onco Urine™ test, in the study of patients with muscle invasive bladder cancer (MIBC) neoadjuvant immunotherapy, we found that genetic detection in urine has the potential to assess the pathological response of patients. With Onco PanScan™, we conducted a study on POLE/POLD1, MMR, MSI, TMB related to immunotherapy and found that ACVR2ALOF was associated with MSI variation in gastric and colorectal cancers.”

“Going forward, Genetron Health’s products and technologies will continue to contribute to the early diagnosis and clinical management of cancer patients,” added Hu.

All 17 studies shared by Genetron Health at the AACR 2022 focused primarily on four areas, namely:

Gene mutation research and fusion mapping aids clinical classification and personalized treatment

Five studies (#5756, #5755, #5746, #5575, #5771) were based on retrospective Next-Generation Sequencing (NGS) results. By performing gene mutation and fusion mapping in children and adults of the sarcoma genome, sarcoma HRR gene, glioma fusion, solid tumor BRAF and RAF1 fusions, and lung cancer RTK fusions, the studies aimed to identify the molecular features related to to investigate cancer, enabling diagnosis and guidance of tumor classification and personalized treatment.

Molecular Detection Leads Clinical Diagnosis and Treatment

Glioblastoma (GBM) is the most common malignant brain tumor. Patients with GBM normally have a poor prognosis and a high risk of recurrence. Study #5264 reported the rare case of a patient with GBM who recurred two years after surgical resection and was diagnosed with low-grade astrocytoma based on histopathological features. However, the molecular features indicated that the recurrent tumor should be diagnosed as a high-grade GBM, demonstrating the clinical importance of combining histopathological features with molecular features for diagnosis.

Radical cystectomy (RC) is the standard treatment for muscle invasive bladder cancer (MIBC), but has a major impact on the patient’s quality of life, even if a urinary tract bypass is made. Study #5101 reported the case of an MIBC patient who received RC treatment with urine-based dynamic monitoring during the period of neoadjuvant immunotherapy, and the result indicated that dynamic monitoring could reflect complete pathological remission. The findings will aid in patient selection for bladder preservation treatment and personalized care.

HER2 antibody trastuzumab in combination with chemotherapy is the first-line treatment option for patients with HER2-positive breast or stomach cancer. This option recently showed antitumor activity in patients with HER2-positive gallbladder cancer (GBC). However, there is currently no effective way to address drug resistance to targeted therapy of HER2-positive GBC. Study #5517 reported a patient with HER2-positive metastatic GBC who was refractory to trastuzumab in combination with chemotherapy, but had significant clinical benefits with the adjunctive use of the PD-1 antibody camrelizumab. The results demonstrated the importance of the combination of immunotherapy and HER2-targeted therapy in the treatment of HER2-positive GBC.

Hereditary tumor biomarkers guide early disease screening and diagnosis

Four studies (#5840, #5875, #5777, #5778) examined pathogenic germline mutations in gliomas, sarcomas, and gastric cancers, including HRR and MMR core genes and other important heritable gene susceptibilities, providing instructive guidance for early disease diagnosis, genetic counseling and treatment.

Immunotherapy marker screening plus population screening immunotherapy

Five studies (#5292, #5774, #5751, #5197, #5752) discussed the correlation of BRAF, POLE/POLD1, clock genes and ACVR2ALOF with MMR, TMB, etc., which can be used as potential biomarkers for immunotherapy.

Glioblastoma degraded to low-grade astrocytoma two years after surgical resection: a report of rare cases5292Exploring the potential relationship between BRAF mutations and tumor mutation burden (TMB) in lung cancer (LC)5774Exploring the Characteristics of BRAF Mutations and Possible Relationship to Therapy in a Large Chinese Lung Cancer Cohort5746Analysis of molecular features of gliomas harboring gene fusions5751Comprehensive analysis of POLE/POLD1 variants, MMR deficiency/MSI and tumor mutation burden in the Chinese population5752Loss of function mutations in ACVR2A are correlated with microsatellite instability in gastric and colon cancer5755Mutation profiling of homologous recombination-related (HRR) genes in Chinese sarcoma patients5840The characteristics of TP53 germline mutations analyzed in a large-scale cohort of Chinese glioma patients5756Next-Generation Sequencing (NGS) Reveals Differences in Molecular Profiles of Pediatric Sarcoma in Children and Adults5575Landscape of BRAF and RAF1 Fusions Identified by Next-Generation Sequencing in a Multiple Cancer Retrospective Analysis in China5875Germline gene changes in high-grade and low-grade gliomas: a multicenter, large-scale study in China5517Addition of PD-1 antibody camrelizumab overcame resistance to trastuzumab plus chemotherapy in a HER2-positive patient with metastatic gallbladder cancer5778Early onset of double germline mutations in homologous recombination deficiency (HRD) mutated gastric cancer5777Germline variants of cancer predisposition genes in a large cohort of Chinese sarcoma patients5101Urine-based dynamic monitoring reflects pathological response in MIBC patients on neoadjuvant immunotherapy5771The refined stratification of receptor tyrosine kinase fusions in lung cancer5197Alterations of the circadian clock genes and their association with tumor mutation burden and response to immunotherapy in NSCLC

About Genetron Holdings Limited

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

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