Tazemetostat Hydrobromide

软组织肉瘤（Soft Tissue Sarcoma，STS）是一种罕见的异质性间叶来源（主要来源于中胚层，部分来源于神经外胚层，包括肌肉、脂肪、纤维组织、血管及外周神经等）的实体肿瘤，仅占所有成人恶性肿瘤的1%和儿童恶性肿瘤的15%。STS是一组高度异质性肿瘤，具有局部侵袭性，呈浸润性或破坏性生长，可局部复发和远处转移[1]。 受累区域既往接受过放疗是发生软组织肉瘤的风险因素。其他相关风险因素包括各种化学物质以及遗传综合征（例如，Li-Fraumeni 综合征、神经纤维瘤病）[2]。 一、软组织肉瘤的诊断 1 影像学检查 超声为基础检查，可区分实性和囊性病变，动态观察肿物内部回声和血供情况，甚至可帮助确定某些STS的起源；X线片初步评估钙化与骨质受累；MRI是评价STS的金标准，精准显示肿瘤范围及与周围组织关系，定量检查技术可辅助鉴别诊断；CT适用于头颈部、腹膜后肿瘤评估，胸部CT为必做检查；PET/CT可用于分期及疗效评估[3]。 2 病理检查 NCCN指南建议在治疗前进行活检，目标是确定恶性肿瘤，并在可能的情况下提供具体诊断，在适当或可行的情况下提供分级。活检可通过开放式切口或空芯针穿刺（首选）完成。对于初次活检因取样量有限而无法明确诊断的患者，应考虑重复进行影像引导下的芯针活检以明确诊断。 二、软组织肉瘤的治疗 1 手术治疗 广泛切除术：适用于Ⅰ-Ⅱ期肿瘤，无远处转移，肿瘤边界相对清晰。 根治性切除术：适用于高级别、侵袭性强的肿瘤，或肿瘤侵犯骨、大血管、神经等重要结构。 保肢术：适用于四肢软组织肉瘤，肿瘤未侵犯关键血管、神经，或可通过术前放化疗缩小肿瘤体积后实现保肢。 截肢术：适用于肿瘤侵犯范围广、无法保肢，或保肢后功能无法恢复的病例。 2 放射治疗 放疗可以作为初始治疗、术前治疗或术后治疗进行，总放疗剂量始终基于组织耐受性确定。 （1）新辅助放疗（术前放疗）：术前放疗可缩小肿瘤体积、降低肿瘤活性、减少术中种植风险，显著提升完整切除率与保肢成功率。 （2）辅助放疗（术后放疗）：用于清除术后微小残留病灶、降低局部复发率。 （3）根治性放疗（不可切除病灶首选）：适用于原发肿瘤无法手术切除、患者无法耐受手术、保肢手术无功能意义的局部晚期患者，可单独采用根治性放疗，或联合全身治疗，实现局部肿瘤长期控制，是无手术机会患者的核心根治性局部手段。 （4）姑息性放疗（晚期转移）：主要目的为缓解临床症状、改善生活质量。 （5）术中放疗（IORT）：腹膜后/腹腔内肉瘤特殊补充放疗手段。 3 全身治疗 全身治疗是中晚期、高复发风险软组织肉瘤的核心手段，NCCN指南细化了不同亚型全身治疗方案。 软组织肉瘤亚型和侵袭性软组织肿瘤全身治疗方案： 其他肿瘤全身治疗方案： 注：上皮样肉瘤的靶向药物他泽司他（Tazemetostat）已被NCCN 2026.v3指南删除，目前不再推荐用于该亚型。 三、软组织肿瘤的分子检测 1 分子分型，辅助诊断 基于组织学切片显微镜检查的形态学诊断仍然是肉瘤诊断的金标准。分子遗传学检测已成为一种辅助检测方法，因为许多肉瘤类型都具有特征性的遗传畸变，包括单碱基对替换、缺失和扩增以及易位。分子检测可以利用多种技术，如荧光原位杂交（FISH）、基于聚合酶链式反应（PCR）的方法或基于下一代测序（NGS）的方法（包括 DNA 和 RNA 测序）。 各肉瘤亚型的特征性遗传学异常： （1）恶性圆形细胞肿瘤 （2）脂肪组织肿瘤 （3）其他软组织肉瘤 2 靶向治疗与免疫治疗 部分软组织肉瘤存在可靶向的分子异常，分子检测可识别这些靶点，指导医生选择针对性的靶向药物。对于晚期或不可切除的软组织肉瘤，分子检测有助于筛选适合靶向治疗或免疫治疗的患者，优化治疗策略。 靶向治疗： 免疫治疗： （1）肿瘤突变负荷（TMB）检测 评估肿瘤细胞基因突变数量，TMB高（≥10 mutations/Mb）的患者可能从免疫检查点抑制剂（如帕博利珠单抗、阿替利珠单抗）治疗中获益。 适用条件：经FDA批准的检测确认TMB-H，既往治疗后进展且无满意替代方案。指南同时指出，对于黏液纤维肉瘤、未分化多形性肉瘤、去分化脂肪肉瘤、皮肤血管肉瘤和未分化肉瘤，即使不检测TMB也可考虑免疫治疗。 （2）微卫星不稳定性（MSI）检测 软组织肉瘤中MSI-H极为罕见（约0.3%），MSI-H患者对免疫治疗响应可能更好。 适用条件：经FDA批准的检测确认MSI-H或dMMR，既往治疗后进展且无满意替代方案。 3 遗传性肿瘤综合征与胚系检测 NCCN指南建议： 有Li-Fraumeni综合征个人和/或家族史的患者（及其家属）应考虑进行进一步的遗传学评估。 对于缺乏KIT或PDGFRA突变的GIST患者，应考虑进行SDH基因突变分析，以鉴定SDH基因亚基中的种系突变。 对于诊断为硬纤维瘤（侵袭性纤维瘤病）的患者，建议评估FAP或Gardner综合征的家族史。 伯科生物在国内已经建设了全流程国产化的高通量核酸合成与应用技术转化中心，建立了GMP厂房和ISO9001、ISO13485质量体系。已经为国内外数百家知名医院、科学研究机构、临床检验所开发了上千款Gene Panel（液相基因芯片），并配套完整的检测试剂，各项性能参数均与国际竞品相当或优于（详见附表1），在基因组、转录组、甲基化组及病原体的检测应用方向均有成熟的产品管线。 附表1： 产品简介 TargetCap® WES Onco Panel 在肿瘤临床研究与转化的检测应用中，WES（全外显子组测序）通过捕获和测序基因组中所有蛋白质编码区域（约占总基因组的1-2%），高效识别肿瘤样本中的体细胞突变、拷贝数变异及关键驱动基因。它与正常对照样本比较，能够精准筛选出与肿瘤发生、进展及耐药性相关的功能性变异，为揭示不同癌种的基因突变谱、发现潜在治疗靶点以及评估遗传易感性提供核心数据支撑。因此，WES是肿瘤基因组学研究和临床转化应用中的基础工具。 伯科设计的TargetCap® WES Onco Panel目标区域和捕获区域大小分别约为40 Mb和50M+，覆盖基因数量超20000个，其中数百个肿瘤重要相关基因编码区进一步得到覆盖增强，还包含34个融合基因的非编码区（融合基因），能够准确检出SNV、InDel等多种突变类型，实现肿瘤基因组变异的全面解析。 数据表现 采用肿瘤gDNA和血液gDNA样本，使用伯科TargetCap® WES Onco Panel进行杂交捕获，在捕获性能方面， 伯科TargetCap® WES Onco Panel表现优异，整体Panel测序深度为500x时，肿瘤相关基因测序深度达到778x，0.2 × Mean占比均在99%左右，Fold 80为1.5-1.6之间。 整体区域QC Onco区域QC 肿瘤液相基因芯片 伯科设计的TargetCap® OncoGene Plus Research Panel基于美国食品药品监督管理局（FDA）批准的用于肿瘤基因检测的FoundationOne CDxTM与MSK-IMPACTTM，其覆盖702个肿瘤相关基因编码区和34个基因的非编码区（融合基因），含有6个MSI和53个化药相关位点，探针覆盖2.32Mb区间。这些区域涵盖更多基因，检测范围更泛，涉及肿瘤高频突变、肿瘤易感、药物靶向、药物耐受等多种类型基因。 性能表现 竞品评测 采用gDNA/cfDNA/FFPE/泛肿瘤800gDNA标准品文库，分别使用伯科商品化肿瘤大Panel-OncoGene Plus Research Panel与竞品肿瘤大Panel进行性能比较(二者大小相近),在捕获特异性上(On-Target)和覆盖均一性(0.2XMean)上，伯科均优于竞品。 对于gDNA标准品，竞品测序35.9Gb，伯科测序19.6Gb，虽然伯科测序数据少，深度低，但二者的突变频率检出无明显差异，伯科对EGFR的19号外显子缺失变异的检出优于竞品。 不同样本类型表现 对不同质量的gDNA样本 (WBC/FFPE, ＞150例)，TargetCap® OncoGene Plus Research Panel表现稳定。 实体瘤融合基因液相基因芯片  Target Cap® Solid Tumor Fusion RNA-Cap Panel依托伯科高通量核酸合成以及自主知识产权的生物素修饰技术，整合实体瘤常见融合相关98个基因设计靶向捕获Panel。TargetCap® Solid TumorFusion RNA-Cap Panel采用跨Exon-Exon的方式，对目标转录本设计多重叠瓦排布探针，显著提高融合检出能力，还可用于检测基因可变剪切情况以及转录本的表达量等。该Panel涵盖DNA污染监控、外参、内参模块以及可变剪接和融合型共覆盖约200Kb编码区域。该Panel表现优异，覆盖均一性好，检测灵敏度高。 数据表现 Solid Tumor Fusion RNA-Cap Panel的覆盖率、中靶率优异，对Exon富集效果明显，转录本覆盖均匀，融合检测准确。 杂交与清洗试剂盒v2 简介 试剂盒概述 伯科杂交与清洗试剂盒v2 (TargetCap® Hybridization and Wash Kit v2，下文简称Hyb&Wash Kit v2)简化了试剂组分和操作流程，同时仍保持优异的捕获性能。Hyb&Wash Kit v2包含4种缓冲液组分，仅需3步清洗，操作流程更加便捷。  性能表现介绍 Ⅰ. 基本QC表现 使用NA12878和NA24694 gDNA标准品，采用三款不同大小的Gene Panel (650Kb、2.3Mb和42Mb) 对Hyb&Wash Kit v2 和 v1 进行比较测试。 结果显示，在不同大小的Gene Panel中，对于杂交与清洗试剂盒的关键参数-中靶率和均一性，v2与v1试剂盒表现相当，v2试剂盒表现更好的均一性(0.2X_MD、0.5X_MD和Fold80)。 Clean_ratio、Map_ratio等基本参数两款试剂盒表现一致，由于v2试剂盒对低GC目标区域覆盖更佳，其GC_rate率略低于v1。 Ⅱ. 低频变异检测 使用肿瘤 SNV gDNA 标准品Ⅱ (GW-OGTM006) 对Hyb&Wash Kit v2的低频变异检测性能进行验证。GW-OGTM006 DNA标准品包含 EGFR、KRAS、NRAS、BRAF、PIK3CA、FGFR3、Her2、MET 等多个常见伴随诊断基因及位点，包含点突变、插入和缺失等多种变异类型。 采用300 Kb Gene Panel对该标准品进行捕获，捕获数据显示，v1与v2试剂盒的基本捕获性能表现相当，v2的中靶率与均一性略优于v1。同时，v1与v2试剂盒均能对12个已知变异准确检出。 参考文献： 1.中国临床肿瘤学会 (CSCO) 骨与软组织肿瘤诊疗指南（2025）,中国临床肿瘤学会指南工作委员会. 2.NCCN Clinical Practice Guidelines in Soft Tissue Sarcoma (2025 Version 1). 3.中国肿瘤整合诊治指南（CACA）—— 软组织肉瘤（V2.0 2025）,中国抗癌协会肉瘤专业委员会. 关于伯科 伯科生物是一家专注于DNA/RNA合成技术的生命科学上游企业，致力于面向基因组学与合成生物学的新技术开发与应用转化，为构建精准诊疗和临床转化体系提供工具平台。依托自研自造的DNA/RNA合成平台，为医疗健康、生物制药等领域提供底层技术支持，公司产品线涵盖NGS测序、长读长测序、PCR平台检测、CRISPR基因编辑、以及RNA干扰等领域。现已在国内搭建了全流程国产化的高通量核酸合成与应用技术转化中心，建立了GMP厂房和ISO9001、ISO13485质量体系。 伯科生物的各种型号的多功能Oligo合成仪已完成自研自造，深度优化的硬件和软件系统可满足从科学试验、分子检测、药物研发等不同的合成需求。不同类型的Oligo合成仪可进行pmol~mmol的oligo合成，开展不同类别、规格、长度和修饰的高品质DNA和RNA Oligo合成，满足不同领域的应用需求。 未来，依托合成生物学的底层技术工具平台，伯科生物将向基因治疗、核酸药物、DNA存储、DNA材料学、分子育种等领域积极拓展，为实现“精益求精创新，为人类美好生活”的企业使命而努力。

WALTHAM, Mass.--(BUSINESS WIRE)--BostonGene, developer of the leading AI model for tumor and immune biology, today announced that nine abstracts have been accepted at the 2026 ASCO Annual Meeting (ASCO), scheduled to take place May 30 – June 2, 2026, at McCormick Place Convention Center in Chicago, IL. BostonGene will also exhibit at booth #33137. The accepted abstracts underscore the broad clinical utility of BostonGene’s AI-powered models and advanced analytical platforms, including the Tumor Portrait® test and Kassandra™ cell deconvolution. Spanning both tissue and peripheral blood analysis, the featured research showcases how integrating deep genomic, transcriptomic, and immunomic profiling can identify novel actionable biomarkers, predict immunotherapy response and toxicity, and map complex resistance mechanisms. Developed in collaboration with leading institutions such as the UT MD Anderson Cancer Center, Weill Cornell Medicine, and the Parker Institute for Cancer Immunotherapy, these studies highlight BostonGene's pivotal role in accelerating biomarker discovery and optimizing patient stratification for clinical trials. Details about the abstracts selected for presentation can be found below: Poster presentations Poster number: 273 Title: TROP2 as an actionable biomarker for anal cancer Date & time: May 30 | 9:00 AM – 12:00 PM Speaker: Mir Lim, MD, UT MD Anderson BostonGene and MD Anderson Cancer Center collaborated to perform comprehensive genomic profiling of localized and metastatic anal cancers, assessing TACSTD2 (TROP2) expression as a potential therapeutic biomarker. The analysis found high TACSTD2 expression that correlated with TROP2 immunohistochemistry, supporting its potential use in identifying patients who may benefit from anti-TROP2 antibody-drug conjugates. The study underscores the clinical utility of BostonGene’s Tumor Portrait® test in biomarker discovery and validation. Research conducted in collaboration with UT MD Anderson Poster number: 257 Title: Developing harmonized tumor microenvironment subtypes for patient stratification in clinical trials Date & time: May 30 | 1:30 PM – 4:30 PM Speaker: Sofya Kust, PhD, BostonGene BostonGene developed an AI-driven harmonized tumor microenvironment (HTME) classification system to improve patient stratification for immunotherapy and targeted therapies across solid tumors. By applying machine learning approaches—including agglomerative clustering, K-nearest neighbors classification, and transcriptomic pathway analysis—to RNA-seq data from more than 40,000 cancer samples, the study identified nine reproducible TME subtypes capturing key biological features such as immune activity, fibrosis, vascularization, and hypoxia. The AI-based framework outperformed existing methods by integrating multiple biological dimensions simultaneously and accurately predicting treatment response and progression-free survival across different cancer types and therapies. Poster number: 323 Title: Multimodal immunoprofiling of peripheral blood using foundation models of the immune system for predicting immunotherapy response and toxicity in the RADIOHEAD pan-cancer cohort Date & time: May 30 | 1:30 PM – 4:30 PM Speaker: Evgeny Barykin, PhD, BostonGene In collaboration with Parker Institute for Cancer Immunotherapy, BostonGene applied AI-based models of the immune system to analyze blood samples from more than 1,000 cancer patients receiving immune checkpoint inhibitor (ICI) therapy in the RADIOHEAD pan-cancer cohort. By combining RNA sequencing, flow cytometry, and machine learning models trained on 45,000 patient profiles, the study identified immune signatures linked to both treatment response and severe immune-related toxicities. The AI-driven embeddings and multimodal immunoprofiling approach successfully stratified patients into responder, non-responder, and high-risk toxicity groups, highlighting the potential of AI-powered peripheral blood profiling to improve immunotherapy patient selection. Research conducted in collaboration with Parker Institute for Cancer Immunotherapy Poster number: 360 Title: Effects of a multimodal TCR/BCR repertoire foundation model on blood RNA-seq–based prediction of severe adverse event risk and rheumatoid arthritis Date & time: May 30 | 1:30 PM – 4:30 PM Speaker: Alexander Bagaev, PhD, BostonGene BostonGene utilized its immune model leveraging multimodal TCR/BCR repertoire data to address two critical clinical challenges: predicting severe immune-related adverse events (irAEs) in cancer patients receiving immune checkpoint inhibitors and detecting rheumatoid arthritis from peripheral blood. By integrating adaptive immune receptor repertoire embeddings with gene expression signatures, the model significantly outperformed traditional immune repertoire analysis approaches—such as clonality, diversity, and V(D)J gene usage metrics—in both predictive accuracy and cross-cohort robustness. These advances enabled earlier risk stratification and more precise immunotherapy management than conventional biomarker methods. Poster number: 533 Title: Immune priming with the EZH2 inhibitor tazemetostat in B-cell lymphomas receiving CART cell therapy Date & time: June 1 | 9:00 AM – 12:00 PM Speaker: Samuel Yamshon, MD, Weill Cornell Medicine BostonGene applied its multimodal molecular profiling platform to characterize the systemic immune remodeling driven by tazemetostat priming in patients with B-cell lymphomas receiving CART therapy. By integrating high-parameter flow cytometry, RNA sequencing, immune cell deconvolution, and functional gene signature analysis, BostonGene’s analysis revealed systemic immune remodeling associated with enhanced antigen presentation, T-cell activation, and reduced immunosuppressive signaling—supporting the use of EZH2 inhibition for improved CART efficacy and durability. Research conducted in collaboration with Weill Cornell Medicine Poster number: 268b Title: IvoLoC: A phase II trial of ivonescimab (IVO) in endocrine-refractory hormone receptor (HR)-positive or triple-negative (TN) metastatic invasive lobular carcinoma (mILC) Date & time: June 1 | 1:30 PM – 4:30 PM Speaker: Jason Mouabbi, MD, UT MD Anderson In a trial in progress with UT MD Anderson Cancer Center, BostonGene will perform multimodal longitudinal blood and tissue analysis for mILC patients receiving the bispecific antibody targeting PD-1 and VEGF, ivonescimab. Moving beyond traditional efficacy metrics, complex correlates linking clinical outcomes with molecular features are ongoing. By integrating real-time ctDNA dynamics with predictive responder scores, BostonGene aims to identify critical markers of response and resistance needed to optimize treatment durability and refine future trial strategies. Research conducted in collaboration with UT MD Anderson Online only Abstract number: e12594 Title: Examining the tumor microbiology and microenvironment of patients with triple negative inflammatory breast cancer receiving Keynote 522 Stage III triple‑negative inflammatory breast cancer patients receiving KN522 therapy were analyzed with BostonGene’s integrative multimodal platform. By combining intrinsic subtype classification with immune deconvolution, BostonGene successfully mapped the molecular landscape of treatment response. Non-responders were marked by angiogenic and endothelial remodeling and potential biomarkers of brain metastasis risk, demonstrating the platform’s unique capability to predict both therapeutic outcomes and disease progression. Research conducted in collaboration with UT MD Anderson Abstract number: e13080 Title: Real-world clinical utility of comprehensive genomic and transcriptomic profiling in metastatic breast cancer (mBC) Description: Clinicians at MD Anderson Cancer Center utilized BostonGene’s Tumor Portrait® test to validate the impact of comprehensive genomic profiling in guiding treatment decisions and predicting outcomes in a heterogeneous real-world mBC cohort. The findings demonstrated that BostonGene’s integrated approach uncovered clinically actionable insights and predictive signatures that directly guided treatment selection and improved patient outcomes. Research conducted in collaboration with UT MD Anderson Abstract number: e16004 Title: Association of angiogenic, fibrotic, and immunosuppressive tumor microenvironment with immunotherapy outcomes in metabolic disease–associated biliary tract cancers Researchers at MD Anderson Cancer Center leveraged BostonGene’s transcriptomic classifiers and KassandraTM cell deconvolution to characterize the tumor microenvironment (TME) of metabolic disease-associated biliary tract cancers. The analysis uncovered a distinct TME in metabolic disease-associated cholangiocarcinoma that likely impairs response to immune checkpoint inhibitors, demonstrating the value of BostonGene’s AI-powered solutions for therapeutic response prediction and trial design. Research conducted in collaboration with UT MD Anderson For more information, please visit the 2026 ASCO Annual Meeting website. The abstracts will be published online in the Journal of Clinical Oncology supplement for the ASCO Annual Meeting Proceedings. About BostonGene Corporation BostonGene powers an AI model of tumor and immune biology to deliver disease-level insights and enable precision decision-making across oncology and immune-mediated diseases, spanning drug development and clinical care. By integrating multimodal data, including genomic, transcriptomic, immune, and clinical signals, BostonGene generates biologically grounded intelligence to optimize patient selection, trial design, and therapeutic strategy. This creates a scalable AI decision layer that improves development outcomes and clinical management. BostonGene partners with leading biopharmaceutical organizations and academic institutions to accelerate the delivery of precision therapies while continuously expanding its capabilities across new diseases and complex biological systems. For more information, visit www.BostonGene.com.