神经母细胞瘤
Neuroblastoma
定义 英文原文（暂无中文）
A rare embryonal tumor of neuroepithelial tissue arising from neural crest cells, typically presenting in infancy or early childhood. Its symptoms depend on tumor stage and location along the sympathetic nervous system, ranging from localized masses to metastatic disease involving the bone, bone marrow, liver, lymph nodes, lung, central nervous system, or skin. Unlike more benign peripheral neuroblastic tumors (intermixed ganglioneuroblastoma and ganglioneuroma), neuroblastoma is characterized by its potential for aggressive invasion and metastases.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 青少年期、产前、儿童期、婴儿期、新生儿期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PHOX2B | paired like homeobox 2B | Major susceptibility factor in |
| MYCN | MYCN proto-oncogene, bHLH transcription factor | Biomarker tested in |
| ALK | ALK receptor tyrosine kinase | Major susceptibility factor in |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Major susceptibility factor in |
| LIN28B | lin-28 RNA binding posttranscriptional regulator B | Major susceptibility factor in |
| LMO1 | LIM domain only 1 | Major susceptibility factor in |
临床表型 34
极常见 99–80%3
- 尿儿茶酚胺水平升高 HP:0011976
- 神经系统的肿瘤 HP:0004375
- 神经母细胞瘤 HP:0003006
常见 79–30%10
- 腹胀 HP:0003270
- 腹部肿块 HP:0031500
- 贫血 HP:0001903
- 慢性腹泻 HP:0002028
- 血儿茶酚胺水平升高 HP:0003334
- 疲乏 HP:0012378
- 发热 HP:0001945
- 淋巴结肿大 HP:0002716
- 血小板减少症 HP:0001873
- 体重减轻 HP:0001824
偶见 29–5%16
- 异常出血 HP:0001892
- 凝血异常 HP:0001928
- 贫血性白斑 HP:0001017
- 减痛步态 HP:0031955
- 骨痛 HP:0002653
- 尿高香草酸水平升高 HP:0011977
- 尿香草扁桃酸水平升高 HP:0011978
- 霍纳综合征 HP:0002277
- 血清铁蛋白升高 HP:0003281
- 乳酸脱氢酶活性增高 HP:0025435
- 易激惹 HP:0000737
- 病理性骨折 HP:0002756
- 眼球突出 HP:0000520
- 呼吸窘迫 HP:0002098
- 脊髓受压 HP:0002176
- 皮下结节 HP:0001482
罕见 <4–1%5
- 共济失调 HP:0001251
- 高血压 HP:0000822
- 肌阵挛 HP:0001336
- 斜视眼阵挛 HP:0010543
- 不累及睑板的眶周瘀斑 HP:0025553
近两年的全球研究 19,124L2
2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。
- 2026-08Resolution of Neuroblastoma-Related Opsoclonus-Myoclonus Ataxia Syndrome Following Tandem High-Dose Chemotherapy With Autologous Hematopoietic Stem Cell Transplantation and Extensive Intravenous Immunoglobulin
- 2026-08综述A functional landscape for chromosome 17q in neuroblastoma: balancing replication stress and genomic stability
- 2026-08综述Neuroblastoma imaging: From MIBG to advanced PET tracers
- 2026-08Modulating amyloid-β 42 aggregation and neurotoxicity by Kunitz domains and their derived peptides
- 2026-08Structural and functional insights into aromatic amino acid decarboxylase deficiency variants producing an α-synuclein-targeting L-Dopa-pyridoxal 5'-phosphate cyclic adduct
- 2026-08Novel tetrazole annulation on benzopyridodiazepine derivatives as inhibitor of tropomyosin kinase B (TrkB): rational design, synthesis, biological evaluation, SAR, and <i>in silico</i> studies
- 2026-08Gallein-Loaded Albumin Nanoparticles Prevent Amyloid-β-Induced Amyloidogenic APP Processing, Synaptic Loss, and Dendritic Pathology
- 2026-08Stabilized phospholipid-topotecan prodrug particles increase vascular permeability and ultrasound-enhanced neuroblastoma delivery
- 2026-08The efficacy of needleless connector designs (split septum vs mechanical valve) on preventing central line-associated bloodstream infection (CLABSI) in very preterm or very low-birth-weight neonates: a randomized clinical trial
- 2026-08Dihydropyrimidinone-isatin hybrids as potent inducers of cell-cycle arrest and caspase-dependent apoptosis in MV4-11 acute myeloid leukemia cells
- 2026-08Human neuronal cells SH-SY5Y as an in vitro model to study Neospora caninum infection and innate immune modulation
- 2026-08Quantitative magnetic resonance imaging radiomics predicts photoreceptorness status in retinoblastoma
- 2026-08In Reply
- 2026-08Robot-assisted minimally invasive surgery in paediatric neuroblastoma: does the actual technology truly expand selection criteria?
- 2026-08Mechanistic insights into the inhibition of α-synuclein aggregation by sugar-based nanoparticles
- 2026-08LncRNA-XIST Competitively Binds to MicroRNA-532-5p to Regulate PTEN Expression, Exacerbating Cerebral Ischemia-Reperfusion Injury
- 2026-08A five-gene TAM and MYCN signature predicts prognosis and identifies MTHFD2 as a therapeutic target in neuroblastoma
- 2026-08Ferroptosis-Based Peripheral Immune Dysregulation and Diagnostic Signatures in Parkinson's Disease: An RNA Transcriptomic and Single-Cell Immune Sequencing Analysis
- 2026-08An Efficient Method for Neuron-Like Differentiation of SH-SY5Y Neuroblastoma Cells Using Retinoic Acid and Laminin-Rich Extracellular Matrix
- 2026-08综述18F-FDG PET/CT in Childhood Cancers: Practical Clinical Applications, Pitfalls, and Case-Based Imaging Scenarios
境外已获批用于本病的药物 5L2
欧盟 2 项、美国 3 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Qarziba (previously Dinutuximab beta EUSA and Dinutuximab beta Apeiron欧盟2017-05-08dinutuximab beta官方记录
- Phelinun欧盟2020-11-16melphalan官方记录
- Unituxin美国2015-03-10dinutuximab官方记录
- DANYELZA®美国2020-11-25naxitamab-gqgk官方记录
- Iwilfin美国2023-12-13eflornithine官方记录
已获孤儿药资格、尚未获批的在研药物（52 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Iodine (131I) iobenguane欧盟2008-01-31Treatment of neuroblastoma官方记录
- 16-base single-stranded PNA oligonucleotide linked to a 7-aminoacid pe欧盟2009-11-25Treatment of neuroblastoma官方记录
- 16-base single-stranded peptide nucleic acid oligonucleotide linked to欧盟2012-07-04Treatment of neuroblastoma官方记录
- chimeric monoclonal antibody to O-acetyl-GD2 antigen欧盟2015-01-15Treatment of neuroblastoma官方记录
- sodium 2-hydroxylinoleate欧盟2015-04-24Treatment of neuroblastoma官方记录
- Omblastys欧盟2017-02-27Iodine (131I) murine IgG1 monoclonal antibody against CD276Treatment of neuroblastoma官方记录
- anti-GD2 monoclonal antibody 3F8 humanised欧盟2018-11-19Treatment of neuroblastoma官方记录
- Kizfizo欧盟2019-08-21temozolomideTreatment of neuroblastoma官方记录
- Ifinwil欧盟2021-05-20eflornithineTreatment of neuroblastoma官方记录
- Humanised IgG1 (K322A) monoclonal antibody against disialoganglioside 欧盟2024-04-16Treatment of neuroblastoma官方记录
- Buthionine sulfoxamine美国2005-10-05For use in children as a modulator of chemotherapy for the treatment of pediatric patients with neuroblastoma官方记录
- Fenretinide美国2005-10-05Treatment of neuroblastoma官方记录
- Iobenguane Sulfate I-123美国2005-10-17For scintigraphic detection, localization and staging of neuroblastoma.官方记录
- monoclonal antibody 3F8美国2008-10-16Treatment of neuroblastoma官方记录
- eflornithine美国2010-11-23Treatment of neuroblastoma官方记录
- abeotaxane inhibitor of microtubules美国2011-04-18Treatment of pediatric neuroblastoma.官方记录
- firtecan pegol美国2011-04-18Treatment of neuroblastoma.官方记录
- dendritic hybrid cell vaccine美国2011-09-23Treatment of neuroblastoma官方记录
- dinutuximab beta美国2012-09-20Treatment of neuroblastoma.官方记录
- crizotinib美国2012-10-31Treatment of neuroblastoma官方记录
- MV-NB-02, its bivalent ganglioside vaccine consisting of GD2-lactone a美国2014-09-23Treatment of Neuroblastoma官方记录
- theranost 68Ga-RGD美国2014-12-08Diagnostic for clinical management of patients with neuroblastoma官方记录
- anisina美国2015-07-14Treatment of neuroblastoma.官方记录
- sodium 2-hydroxylinoleate美国2015-08-25Treatment of neuroblastoma.官方记录
- 131-I-8H9 monoclonal antibody美国2016-08-29Treatment of neuroblastoma官方记录
- 3-(5-Fluoro-benzofuran-3-yl)-4-(5-methyl-5H-[1,3]dioxolo[4,5 f]indol-7美国2017-08-18Treatment of Neuroblastoma官方记录
- 16 base single stranded PNA oligonucleotide¿7 aminoacids peptide美国2017-10-25Treatment of neuroblastoma官方记录
- taurolidine美国2018-02-22Treatment of neuroblastoma官方记录
- 18-(p-[131]-iodophenyl)octadecyl phosphocholine美国2018-03-15Treatment of neuroblastoma官方记录
- [4-(4-{1-[2-(2-{2-[2-(2-{2-[2-(4-guanidinomethyl-phenoxy)-ethoxy]-etho美国2018-10-17Treatment of neuroblastoma官方记录
- Rose bengal disodium美国2018-11-02Treatment of Neuroblastoma官方记录
- Temozolomide美国2019-08-01Treatment of neuroblastoma官方记录
- 18F-meta-fluorobenzylguanidine美国2019-08-21Diagnostic for the management of neuroblastoma官方记录
- (2R,4R)-1-(3-chloro-2-fluorobenzyl)-4-((3-fluoro-6-((5-methyl-1H-pyraz美国2020-01-29Treatment of Neuroblastoma官方记录
- Gallium-68 DOTANOC美国2020-04-01Diagnostic for the management of neuroblastoma官方记录
- [67Cu]Cu-[MeCOSar0-Tyr3]-octreotate美国2020-04-14Treatment of neuroblastoma官方记录
- [64Cu]Cu-[MeCOSar0-Tyr3]-octreotate美国2020-05-06Diagnostic for the clinical management of neuroblastoma官方记录
- 2-(4-(4-((1-(107-(4-(guanidinomethyl)phenoxy)-(polyethyleneglycol36))-美国2020-08-28Treatment of neuroblastoma官方记录
- Nivatrotamab美国2020-09-25Treatment of neuroblastoma官方记录
- alrizomadlin美国2022-03-17Treatment of neuroblastoma官方记录
另有 12 项未列出。
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 44L2
按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。
登记为可入组 27
- 招募中NCT05027386Apatinib Mesylate Combined With IT Regimen for the Treatment of Recurrent or Refractory Pediatric Neuroblastoma: A Single-arm, Phase I/II，Multi-center, Clinical Study.中国研究中心 1 个：Guangzhou
- 招募中NCT0506922018F-MFBG PET/CT in the Evaluation of Neural Crest Tumor中国研究中心 1 个：Beijing
- 招募中NCT07516678Serial ctDNA and Molecular Residual Disease Monitoring in Neuroblastoma中国研究中心 1 个：Guangzhou
- 招募中NCT07064746Clinical Application Study of [123I]Metaiodobenzylguanidine and Somatostatin Receptor-Targeted Imaging in the Diagnosis and Staging of Neuroblastoma中国研究中心 1 个：Nanjing
- 尚未开始招募NCT05303727Allogeneic Hematopoietic Stem Cell Transplantation for 4/M Neuroblastoma中国研究中心 1 个：Guangzhou
- 招募中NCT05562024TAA06 Injection in the Treatment of Patients With B7-H3-positive Relapsed/ Refractory Neuroblastoma中国研究中心 2 个：Jinan、Tianjin
- 招募中NCT05701306APG-115 Alone or in Combination With APG-2575 in Children With Recurrent or Refractory Neuroblastoma or Solid Tumors中国研究中心 3 个：Guangzhou、Tianjin、Wuhan
- 招募中NCT06013618Clinical Analysis of Naxitamab (hu3F8) in the Treatment of Pediatric High Risk or Refractory/ Relapsed Neuroblastoma中国研究中心 1 个：Guangzhou
- 招募中NCT06255210Efficacy and Safety of Induction Chemotherapy for Olfactory Neuroblastoma (ESICON)中国研究中心 1 个：Shanghai
- 招募中NCT06574698Adding Of Naxitamb In Induction Therapy For High Risk Neuroblastoma中国研究中心 1 个：Guanzhou
- 招募中NCT06818916Hetrombopag in Promoting Platelet Engraftment After Auto-HSCT in Children With Neuroblastoma中国研究中心 1 个：Beijing
- 招募中NCT06631391Phase I Study of Umbilical Cord Blood Natural Killer (NK) Cell Therapy for Children With High-risk, R/R Neuroblastoma.中国研究中心 1 个：Guangzhou
- 招募中NCT06684639A Study on the Efficacy of GD2-CAR T Cells in the Treatment of Neuroblastoma中国研究中心 1 个：Chengdu
- 仅邀请入组NCT06703944Risk Model for Metastasis Detection of Neuroblastoma中国研究中心 3 个：Hangzhou、Shanghai、Shenzhen
- 招募中NCT06836505Safety and Efficacy of CAR-T Cell Therapy for Relapsed/refractory Neuroblastoma and Desmoplastic Small Round Cell Tumors: a Single-arm, Open-label Trial.中国研究中心 3 个：Dongguan、Guangzhou、Shanghai
- 招募中NCT07195500Clinical Application of Somatostatin Receptor and Norepinephrine Transporter Targeted Imaging for Diagnosis and Staging of Neuroblastoma and Pheochromocytoma/Paraganglioma中国研究中心 1 个：Nanjing
- 招募中NCT06751134Chimeric Natural Killer Receptor-Universal T Cells for Relapsed or Refractory Neuroblastoma中国研究中心 2 个：Nanjing
- 招募中NCT0685280718F-mFBG PET Imaging in the Evaluation of Neuroblastoma中国研究中心 1 个：Hangzhou
- 尚未开始招募NCT06873672Validation of the EQ-5D-Y-3L and EQ-5D-Y-5L for Paediatric Patients in China中国研究中心 1 个：Guiyang
- 招募中NCT06933394Arsenic Trioxide With MAPK Inhibitors and Chemotherapy for Stage 4/M Neuroblastoma中国研究中心 1 个：Guangzhou
- 招募中NCT07067346Safety & Efficacy of IR-101 in Relapsed/Refractory Neuroblastoma中国研究中心 1 个：Chengdu
- 尚未开始招募NCT07090538GSL Synthetase Inhibitor Plus GM-CSF and/ or Immune Checkpoint Inhibitor in Previously Treated High-Risk Neuroblastoma.中国研究中心 2 个：Beijing
- 招募中NCT07318831Phase II Study of Chidamide-Dinutuximab Beta-Irinotecan-Temozolomide for Refractory/Relapsed Neuroblastoma in Children中国研究中心 1 个：Tianjin
- 招募中NCT07502287Dual-Target GD2/B7-H3 CAR-NK Cells for Pediatric Relapsed or Refractory Neuroblastoma中国研究中心 1 个：Shenzhen
- 招募中NCT07584499Phase I Study of Becotatug Vedotin for Safety and Efficacy in EGFR-Positive Pediatric Relapsed/Refractory or Metastatic Solid Tumors中国研究中心 1 个：Guangzhou
另有 2 项未列出。
其他状态的试验（17 项）
- 已终止NCT01121588Studying An Investigational Drug Crizotinib (PF-02341066) In Non Non-Small Cell Lung Cancer Tumors That Are Positive For Anaplastic Lymphoma Kinase (ALK)中国研究中心 2 个：Beijing、Guangzhou
- 状态未知NCT02457650T Cell Receptor-transduced T Cells Targeting NY-ESO-1 for Treatment of Patients With NY-ESO-1- Expressing Malignancies中国研究中心 1 个：Shenzhen
- 状态未知NCT02615106Anti-angiogenetic Therapy With Radiotherapy for Pediatric Neuroblastoma中国研究中心 1 个：Shanghai
- 已完成NCT02765243Anti-GD2 4th Generation CART Cells Targeting Refractory and/or Recurrent Neuroblastoma中国研究中心 1 个：Guangzhou
- 进行中·不再招募NCT02650401Study Of Entrectinib (Rxdx-101) in Children and Adolescents With Locally Advanced Or Metastatic Solid Or Primary CNS Tumors And/Or Who Have No Satisfactory Treatment Options中国研究中心 2 个：Beijing、Shanghai
- 状态未知NCT02919046Study Evaluating the Efficacy and Safety With CAR-T for Relapsed or Refractory Neuroblastoma in Children中国研究中心 2 个：Nanjing、Shanghai
- 状态未知NCT02933333G-CSF Alone or Combination With GM-CSF on Prevention and Treatment of Infection in Children With Malignant Tumor中国研究中心 7 个：Jinan、Qingdao、Shanghai、Suzhou、Xi'an、Xiamen
- 进行中·不再招募NCT03503864Phase II Study of Combined Chemotherapy With Arsenic Trioxide in Stage 4/M Neuroblastoma中国研究中心 1 个：Guangzhou
- 状态未知NCT04412408Study on Sintilimab in Stage IV High Risk Neuroblastoma中国研究中心 1 个：Shanghai
- 状态未知NCT05179850Computer Aided Diagnostic Tool on Computed Tomography Images for Diagnosis of Retroperitoneal Tumor in Children中国研究中心 1 个：Chengdu
- 已完成NCT06190574Diagnostic Efficacy and Prognostic Value of 18F-FDG PET/CT (MR) in Pediatric Solid Blastoma中国研究中心 1 个：Wuhan
- 状态未知NCT05338541Tucidinostat Plus Etoposide in the Treatment of Neuroblastoma in Childhood.中国研究中心 1 个：Guangzhou
- 已完成NCT05373901Evaluation of the Safety and Pharmacokinetics of Dinutuximab Beta As Maintenance Therapy in Chinese Participants With High-Risk Neuroblastoma中国研究中心 3 个：Hangzhou、Shanghai、Tianjin
- 状态未知NCT06502210Identification of New Gene Spliceosomes in Neuroblastoma中国研究中心 1 个：Nantong
- 已完成NCT06822842Accurate Diagnosis and Grading of Pediatric Solid Tumors Based on Pathological Large Models中国研究中心 1 个：Shanghai
- 进行中·不再招募NCT07278674Clinical Study of Eflornithine After Immunotherapy for High-risk Neuroblastoma（CSHEIN）中国研究中心 1 个：Hainan
- 进行中·不再招募NCT07549425Construction and Validation of an Intelligent Ultrasound Diagnostic System for the Spectrum of Neuroblastoma in Children中国研究中心 6 个：Hangzhou、Hefei、Kunming、Suzhou、Wenling
中国境外的在招试验 134L2
这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。
美国68加拿大13法国9英国7西班牙6以色列5荷兰5意大利5澳大利亚5丹麦5奥地利4比利时4捷克4瑞典4另有 24 个国家/地区
CT.gov 报告命中 134 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07437963Testing the Addition of Iberdomide to Therapy in People With Neuroblastoma That Has Come Back, Not Responded to Treatment, or Gotten Worse
- 尚未开始招募NCT07527169A Phase 2 Study Of Zanzalintinib For Patients With Recurrent Or Metastatic Olfactory Neuroblastoma美国
- 尚未开始招募NCT06858501Comparing 123I-MIBG and 18F-MFBG Imaging in Patients With Newly Diagnosed, High Risk Neuroblastoma
- 尚未开始招募NCT07261241NANT 2021-02: Randomized MIBG With Vorinostat/Dinutuximab/Vorinostat + Dinutuximab美国
- 招募中NCT07211737NKG2D.Zeta-NK Cell Conditioning With C7R.GD2.CAR-T Cells for Patients With Relapsed or Refractory Osteosarcoma or Neuroblastoma美国
- 尚未开始招募NCT07688252Dinutuximab-beta and Chemotherapy in Newly Diagnosed High-Risk Neuroblastoma中国台湾
- 招募中NCT07635056Haploidentical Donor Cytokine-Induced Memory-Like Natural Killer Cells (CIML-NK) for Relapsed & Refractory Neuroblastoma美国
- 尚未开始招募NCT07358260B7-H3.CD28Z.CART in Solid Tumors美国
- 招募中NCT06465199Eflornithine (DFMO) and AMXT 1501 for Neuroblastoma, CNS Tumors, and Sarcomas美国
- 尚未开始招募NCT07518654Phase I Clinical Trial of ThINKK Adoptive Immunotherapy After Allogeneic Hematopoietic Transplantation in Children With Leukemia or Neuroblastoma加拿大
- 尚未开始招募NCT07537400Patients Between the Ages of 12 Months to 21 Years With Newly-Diagnosed High-Risk Neuroblastoma Will Receive Children's Oncology Group (COG) Type Recommended Therapy With the Addition of Naxitamab and Granulocyte-Macrophage Colony Stimulating Factor (GM-CSF) to Induction Cycles 1-5以色列
- 招募中NCT07549321A Safety and Efficacy Study of hu14 in High-Risk Neuroblastoma Patients加拿大、美国
- 尚未开始招募NCT07444918Liposomal Irinotecan, Vincristine, Temozolomide, and Anlotinib for R/R Pediatric Solid Tumors
- 尚未开始招募NCT07111117Comparison of 18F Labeled Analog of MIBG (18F-MFBG) PET/CT and 123I-MIBG SPECT in Pediatric Patients With Neuroblastoma.法国
- 招募中NCT06625190Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors美国
外部标识与链接
OrphanetOMIM:256700OMIM:613013OMIM:613014MONDO:0005072GARD:7185ICD-10 C74.9ICD-11 2A00.11、XH85Z0ClinicalTrials.gov 检索
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）