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Published on: June 13, 2018
Precision Medicine Program in Chinese Pediatric Patients With Sarcoma
Suying Lu1, Yu Zhang2, Weiling Zhang3
1Department of Pediatric Oncology, State Key Laboratory of Oncology in South China, Guangdong Provincial Clinical Research Center for Cancer, Collaborative Innovation Center for Cancer Medicine, Sun Yat-sen University Cancer Center, Guangzhou, PR China.
Purpose:
Molecular profiles of sarcomas in Chinese children remain unknown. The Chinese Pediatric Precision Oncology Group (CPPOG) is a prospective precision medicine program aimed at defining tumor molecular profiles in pediatric oncology patients across China, which aids diagnosis and treatment decisions. Herein, we report, to our knowledge, the first data from the CPPOG trial.
Methods:
Panel sequencing (830-gene DNA panel and 395-gene RNA panel) was performed on 214 tumors from 210 patients with sarcoma from 11 centers, between April 2021 and January 2022 in China. This study was prospectively analyzed to characterize subtype-specific somatic alterations and pathways. Molecular features among subgroups concerning response to treatment and pathologic characteristics were also identified.
Results:
Genomic profiling revealed molecular aberrations in the patients: 88.3% harbored at least one somatic or germline alteration; 51.4% carried gene fusions (including 37 novel fusion variants); 46.3% possessed actionable therapeutic targets; 9.5% exhibited germline variants; and 14.3% had modified diagnoses based on molecular findings. In this study, the most common genetic alterations were TP53 mutation and EWSR1-FLI1 fusion. The most common activated pathways were TP53, PI3K, and RTK-RAS in pediatric sarcomas. Anaplastic embryonal rhabdomyosarcomas had special molecular characteristics, with high TP53, MYCN, and MYCL gene alteration frequencies. The mutation frequencies of TP53 and NRAS were notably higher in patients who had undergone disease progression, relapse, or metastasis. Moreover, MYC, MYCN, and MDM2 alterations were more frequent in tumors with mitotic figures >50/3 mm2.
Conclusion:
Our study reveals the preliminary molecular landscape of Chinese pediatric sarcomas, indicating that molecular changes may represent different therapeutic responses and pathologic characteristics may correlate with molecular characteristics, suggesting the need for panel sequencing for pediatric sarcoma.
Insights
This study analyzed Chinese pediatric sarcomas, finding most patients have molecular aberrations. These genetic changes correlate with treatment response and tumor characteristics, highlighting the need for molecular profiling.
Area of Science:
- Pediatric Oncology
- Molecular Pathology
- Genomics
Background:
- Molecular profiles of pediatric sarcomas in China are largely unknown.
- The Chinese Pediatric Precision Oncology Group (CPPOG) aims to define these profiles for improved diagnosis and treatment.
- This is the first report from the CPPOG trial on pediatric sarcomas.
Purpose of the Study:
- To characterize the molecular profiles of sarcomas in Chinese children.
- To identify subtype-specific somatic alterations and activated pathways.
- To correlate molecular features with treatment response and pathological characteristics.
Main Methods:
- Panel sequencing (830-gene DNA, 395-gene RNA) was performed on 214 tumors from 210 pediatric patients.
- Tumors were collected from 11 centers across China between April 2021 and January 2022.
- Prospective analysis focused on characterizing alterations, pathways, and subgroup features.
Main Results:
- 88.3% of tumors had at least one somatic or germline alteration; 51.4% had gene fusions.
- Actionable therapeutic targets were found in 46.3% of patients; 14.3% had modified diagnoses based on molecular findings.
- Common alterations included TP53 mutations and EWSR1-FLI1 fusions; TP53, PI3K, and RTK-RAS pathways were most activated. TP53 and NRAS mutations were higher in progressive disease.
Conclusions:
- The study provides the initial molecular landscape of Chinese pediatric sarcomas.
- Molecular alterations correlate with therapeutic responses and pathological characteristics.
- Panel sequencing is recommended for pediatric sarcoma diagnosis and treatment planning.
