|Table of Contents|

Next-generation sequencing (NGS) analysis in patients with soft tissue sarcomas:Diagnostic and therapeutic implications and their relationship with traditional Chinese medicine

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2024 20
Page:
3953-3958
Research Field:
Publishing date:

Info

Title:
Next-generation sequencing (NGS) analysis in patients with soft tissue sarcomas:Diagnostic and therapeutic implications and their relationship with traditional Chinese medicine
Author(s):
WEI Zijian1JING Yuanhao1LI Rutian2
1.The Comprehensive Cancer Centre of Nanjing Drum Tower Hospital,Clinical College of Traditional Chinese and Western Medicine,Nanjing University of Chinese Medicine,Jiangsu Nanjing 210031,China;2.The Comprehensive Cancer Centre of Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School,Jiangsu Nanjing 210008,China.
Keywords:
soft tissue sarcomapersonalized medicinenext-generation sequencing (NGS)gene mutationstraditional Chinese medicine (TCM)
PACS:
R738.6
DOI:
10.3969/j.issn.1672-4992.2024.20.025
Abstract:
Objective:To explore the diagnostic and therapeutic value of next-generation sequencing (NGS) technology in patients with soft tissue sarcoma (STS) and to investigate potential implications for anti-tumor traditional Chinese medicine (TCM) treatment.Methods:In this study,NGS technology was employed to comprehensively analyze tumor tissues from 30 patients with different subtypes of soft tissue sarcoma.The analysis encompassed five gene-level detections:Tumor cell mutations:all exons of 651 genes,and partial introns of 65 genes.Germline mutations:all exons of 63 genes.Tumor mutation burden (TMB).Microsatellite Instability (MSI).PD-L1 (22C3) protein expression.Data interpretation was conducted in conjunction with clinical practice.Results:Gene mutations in sarcoma patients were predominantly distributed in genes related to the cell cycle and known oncogenic driver genes.One patient had their surgical pathology diagnosis revised based on the NGS report.Over half of the patients harbored actionable mutations,with four metastatic/recurrent patients undergoing targeted/immunotherapy based on NGS reports.Three patients achieved disease control during clinical treatment,with progression-free survival time of 6,6,and 12 months,respectively.Conclusion:The gene sequencing of sarcoma tissue can further validate pathological diagnosis.Genetic variations associated with tumors provide scientific basis for existing targeted therapies and increase the potential for discovering new drug targets.The detection of immune-related indicators in the report provides a basis for immunotherapy selection and prognosis for sarcoma patients.Furthermore,the relationship between mutated genes in NGS reports and the mechanisms of TCM treatment is explored.It is expected that these data will drive the advancement of precision/personalized medical treatment for clinical soft tissue sarcoma in the future.

References:

[1] MCCONNELL L,HOUGHTON O,STEWART P,et al.A novel next generation sequencing approach to improve sarcoma diagnosis[J].Mod Pathol,2020,33(7):1350-1359.
[2] DUFRESNE A,BRAHMI M,KARANIAN M,et al.Using biology to guide the treatment of sarcomas and aggressive connective-tissue tumours[J].Nat Rev Clin Oncol,2018,15(7):443-458.
[3] PANAGI M,PILAVAKI P,CONSTANTINIDOU A,et al.Immunotherapy in soft tissue and bone sarcoma:unraveling the barriers to effectiveness[J].Theranostics,2022,12(14):6106-6129.
[4] BOWMAN SK,SIMON MD,DEATON AM,et al.Multiplexed Illumina sequencing libraries from picogram quantities of DNA[J].BMC Genomics,2013,14:466.
[5] CLARKE AC,PROST S,STANTON JA,et al.From cheek swabs to consensus sequences:an A to Z protocol for high-throughput DNA sequencing of complete human mitochondrial genomes[J].BMC Genomics,2014,15:68.
[6] MOSELE F,REMON J,MATEO J,et al.Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers:a report from the ESMO Precision Medicine Working Group[J].Ann Oncol,2020,31(11):1491-1505.
[7] KIM YB,SHIN KH,SEONG J,et al.Clinical significance of margin status in postoperative radiotherapy for extremity and truncal soft-tissue sarcoma[J].Int J Radiat Oncol Biol Phys,2008,70(1):139-144.
[8] JUDSON I,VERWEIJ J,GELDERBLOM H,et al.Doxorubicin alone versus intensified doxorubicin plus ifosfamide for first-line treatment of advanced or metastatic soft-tissue sarcoma:a randomised controlled phase 3 trial[J].Lancet Oncol,2014,15(4):415-423.
[9] GOMEZ J,TSAGOZIS P.Multidisciplinary treatment of soft tissue sarcomas:An update[J].World J Clin Oncol,2020,11(4):180-189.
[10] SMRKE A,WANG Y,SIMMONS C.Update on systemic therapy for advanced soft-tissue sarcoma[J].Curr Oncol,2020,27(Suppl 1):25-33.
[11] GASPAR N,HAWKINS DS,DIRKSEN U,et al.Ewing sarcoma:Current management and future approaches through collaboration[J].J Clin Oncol,2015,33(27):3036-3046.
[12] BROWN HK,SCHIAVONE K,GOUIN F,et al.Biology of bone sarcomas and new therapeutic developments[J].Calcif Tissue Int,2018,102(2):174-195.
[13] LE CESNE A.Making the best of available options for optimal sarcoma treatment[J].Oncology,2018,95 Suppl 1:11-20.
[14] RAY-COQUARD I,SERRE D,REICHARDT P,et al.Options for treating different soft tissue sarcoma subtypes[J].Future Oncol,2018,14(10s):25-49.
[15] BODDU S,WALKO CM,BIENASZ S,et al.Clinical utility of genomic profiling in the treatment of advanced sarcomas:a single-center experience[J].JCO Precis Oncol,2018,2:1-8.
[16] COTE GM,HE J,CHOY E.Next-generation sequencing for patients with sarcoma:a single center experience[J].Oncologist,2018,23(2):234-242.
[17] GROISBERG R,HONG DS,HOLLA V,et al.Clinical genomic profiling to identify actionable alterations for investigational therapies in patients with diverse sarcomas[J].Oncotarget,2017,8(24):39254-39267.
[18] WILKY BA,VILLALOBOS VM.Emerging role for precision therapy through next-generation sequencing for sarcomas[J].JCO Precis Oncol,2018,2:1-4.
[19] ITALIANO A,MATHOULIN-PELISSIER S,CESNE AL,et al.Trends in survival for patients with metastatic soft-tissue sarcoma[J].Cancer,2011,117(5):1049-1054.
[20] MAKINEN N,AAVIKKO M,HEIKKINEN T,et al.Exome sequencing of uterine leiomyosarcomas identifies frequent mutations in TP53,ATRX,and MED12[J].PLoS Genet,2016,12(2):e1005850.
[21] LIM SM,PARK HS,KIM S,et al.Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus[J].Oncotarget,2016,7(9):10547-10556.
[22] YANG CY,LIAU JY,HUANG WJ,et al.Targeted next-generation sequencing of cancer genes identified frequent TP53 and ATRX mutations in leiomyosarcoma[J].Am J Transl Res,2015,7(10):2072-2081.
[23] KANOJIA D,NAGATA Y,GARG M,et al.Genomic landscape of liposarcoma[J].Oncotarget,2015,6(40):42429-42444.
[24] AGARAM NP,ZHANG L,LELOARER F,et al.Targeted exome sequencing profiles genetic alterations in leiomyosarcoma[J].Genes Chromosomes Cancer,2016,55(2):124-130.
[25] MOVVA S,WEN W,CHEN W,et al.Multi-platform profiling of over 2000 sarcomas:identification of biomarkers and novel therapeutic targets[J].Oncotarget,2015,6(14):12234-12247.
[26] BARR FG,ZHANG PJ.The impact of genetics on sarcoma diagnosis:an evolving science[J].Clin Cancer Res,2006,12(18):5256-5257.
[27] MERTENS F,JOHANSSON B,FIORETOS T,et al.The emerging complexity of gene fusions in cancer[J].Nat Rev Cancer,2015,15(6):371-381.
[28] PARKER BC,ZHANG W.Fusion genes in solid tumors:an emerging target for cancer diagnosis and treatment[J].Chin J Cancer,2013,32(11):594-603.
[29] THWAY K,WANG J,SWANSBURY J,et al.Fluorescence in situ hybridization for MDM2 amplification as a routine ancillary diagnostic tool for suspected well-differentiated and dedifferentiated liposarcomas:experience at a tertiary center[J].Sarcoma,2015,2015:812089.
[30] 辇伟奇,聂勇战,应建明,等.肿瘤突变负荷检测及临床应用中国专家共识(2020年版)[J].中国癌症防治杂志,2020,12(5):485-494. NIAN WQ,NIE YZ,YING JM,et al.Chinese expert consensus on tumor mutational burden testing and clinical application[J].Chinese Journal of Oncology Prevention and Treatment,2020,12(5):485-494.
[31] YARCHOAN M,HOPKINS A,JAFFEE EM.Tumor mutational burden and response rate to PD-1 inhibition[J].N Engl J Med,2017,377(25):2500-2501.
[32] WANG YZ,WANG JS,DU J,et al.Clinical benefit analysis of PD-1 inhibitors in patients with advanced,recurrent or metastatic cervical cancer:a meta-analysis and systematic review[J].Front Immunol,2024,15:1305810.
[33] XU J,YANG Y.Traditional Chinese medicine in the Chinese health care system[J].Health Policy,2009,90(2-3):133-139.
[34] 艾青华,江久,程卫国,等.基于网络药理学和文献聚类分析研究阳和汤治疗非小细胞肺癌作用机制[J].环球中医药,2022,15(10):1814-1823. AI QH,JIANG J,CHENG WG,et al.Study on the mechanism of Yanghe decoction in treating non-small cell lung cancer based on network pharmacology and literature cluster analysis[J].Global Traditional Chinese Medicine,2022,15(10):1814-1823.
[35] 张家晨,张伟,朱旭,等.基于网络药理学探讨阳和汤治疗三阴性乳腺癌的作用机制[J].中国处方药,2023,21(12):49-53. ZHANG JC,ZHANG W,ZHU X,et al.Investigating the mechanism of action of Yanghe decoction in treating triple-negative breast cancer based on network pharmacology[J].Chinese Prescription Medication,2023,21(12):49-53.
[36] 刘爱萍,刘明,高亚,等.基于网络药理学和分子对接的四妙散治疗糖尿病周围神经病变机制研究[J].中国医药导刊,2023,25(03):271-280. LIU AP,LIU M,GAO Y,et al.Research on the mechanism of Si Miao San in treating diabetic peripheral neuropathy based on network pharmacology and molecular docking[J].Chinese Medicine Guide,2023,25(3):271-280.
[37] 何灿封,肖志伟.基于网络药理学探究桂枝茯苓丸治疗卵巢癌的潜在机制[J].中医肿瘤学杂志,2020,2(05):29-35,28. HE CF,XIAO ZW.Exploring the potential mechanisms of Guizhi Fuling Wan in treating ovarian cancer based on network pharmacology[J].Journal of Traditional Chinese Medicine Oncology,2020,2(5):29-35,28.
[38] 马学琴,张丽敏,虎峻瑞.基于网络药理学的桂枝茯苓丸治疗宫颈癌的机制研究[J].临床医学研究与实践,2021,6(08):7-11. MA XQ,ZHANG LM,HU JR.Research on the mechanism of Guizhi Fuling Wan in treating cervical cancer based on network pharmacology[J].Clinical Medical Research and Practice,2021,6(8):7-11.
[39] 王雪梅,鲍慧中,马天玥,等.基于多数据平台探讨桂枝茯苓丸对乳腺癌的干预机制[J].中国现代应用药学,2023,40(24):3389-3398. WANG XM,BAO HZ,MA TY,et al.Exploring the intervention mechanism of Guizhi Fuling Wan on breast cancer based on multi-data platforms[J].Modern Chinese Applied Pharmacy,2023,40(24):3389-3398.

Memo

Memo:
-
Last Update: 1900-01-01