皮肤神经内分泌癌
Cutaneous neuroendocrine carcinoma
定义 英文原文（暂无中文）
A rare aggressive skin cancer characterized by a rapidly growing nodule with both epithelial and neuroendocrine features, driven in 80% of cases by the oncogenic Merkel cell polyomavirus (MCPyV).
别名
Merkel细胞癌
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期、老年期
- 患病率
- 1-9 / 1 000 000
临床表型 17
必现 100%1
- 默克尔细胞皮肤癌 HP:0030447
常见 79–30%7
- 细胞免疫缺陷 HP:0005374
- 慢性非感染性淋巴结肿大 HP:0002730
- 光感性皮肤 HP:0000992
- 红斑病 HP:0025475
- 红斑 HP:0025474
- 皮肤局部异常 HP:0011356
- 皮肤结节 HP:0200036
偶见 29–5%5
- 基底细胞癌 HP:0002671
- 类癌 HP:0100570
- 淋巴细胞白血病 HP:0005526
- 多发性骨髓瘤 HP:0006775
- 皮肤鳞状上皮细胞癌 HP:0006739
罕见 <4–1%3
- 脑FDG正电子发射断层扫描异常 HP:0012658
- 脑肿瘤 HP:0030692
- 外耳肿瘤 HP:0040095
排除 0%1
- 疼痛 HP:0012531
近两年的全球研究 30L2
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。
- 2026-07Inhibition of the ATR-CHK1 signaling pathway sensitizes MCPyV-positive Merkel cell carcinoma to gemcitabine
- 2026-05预印本A Case Report and Literature Review of Merkel Cell Carcinoma of the Face
- 2026-05病例报告Merkel Cell Carcinoma With Divergent Differentiation-Or Something Else? A Triphasic Cutaneous Carcinoma With Lineage Plasticity
- 2026-05病例报告开放获取Expanding the dermoscopic spectrum of Merkel cell carcinoma: A case report
- 2026-04预印本Merkel cell carcinoma in southern China: clinicopathologic and transcriptomic analysis with insights into an intraepidermal-predominant lesion
- 2026-04综述病例报告Two cases of sweat gland carcinoma with neurosecretory differentiation: A report
- 2026-04综述病例报告开放获取Merkel Cell Carcinoma of the Thigh Presenting as a Hemorrhagic Mass: A Rare Case Report and Literature Review
- 2026-03开放获取A novel patient-specific solution for Merkel cell carcinoma in high-dose-rate brachytherapy
- 2026-02病例报告When Morphology Misleads: The Diagnostic Challenge of Large-Cell Variant Merkel Cell Carcinoma
- 2026-01Giant Palmar Merkel Cell Carcinoma With Prolonged Stability and Abrupt Progression
- 2026-01开放获取Merkel Cell Carcinoma Presenting as a Solitary Facial Nodule in a 59-Year-Old Woman
- 2026-01综述开放获取Imaging features of lacrimal gland disease
- 2025-12开放获取Optimizing surgical margins in the treatment of eyelid Merkel cell carcinoma: a tertiary center experience and literature review
- 2025-12综述开放获取RB1 inactivation in cutaneous carcinomas
- 2025-12开放获取Quantifying coding integrity and reliability of ICD-11 MMS for rare disease registration: a case study of the Chinese rare disease catalogue
- 2025-11开放获取Merkel cell carcinoma: Clinicopathological analysis of three patients and literature review
- 2025-10荟萃分析系统综述综述开放获取Dermatologic Features of Endocrine Tumor Syndromes-Systematic Review and Meta-Analysis
- 2025-10病例报告开放获取Merkel cell carcinoma of the parotid gland: a rare case report and literature review
- 2025-07开放获取Merkel cell carcinoma: long-term outcomes after radiotherapy treatment
- 2025-06综述Merkel Cell Carcinoma: Current Treatment Landscape and Emerging Therapeutic Targets
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。
- Bavencio欧盟2017-09-18avelumab官方记录
- Zynyz欧盟2024-04-19retifanlimab官方记录
- Bavencio美国2017-03-23avelumab (Recombinant human monoclonal IgG1 antibody against programmed death ligand-1)官方记录
- Keytruda美国2018-12-19pembrolizumab官方记录
- Zynyz美国2023-03-22retifanlimab-dlwr官方记录
已获孤儿药资格、尚未获批的在研药物（7 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。
- live-attenuated non-replicative Pseudomonas aeruginosa strain expressi欧盟2016-11-18Treatment of Merkel cell carcinoma官方记录
- navtemadlin欧盟2022-01-14Treatment of Merkel cell carcinoma官方记录
- activated natural killer[aNK])美国2017-03-15Treatment of Merkel cell carcinoma官方记录
- navtemadlin美国2020-04-08Treatment of Merkel cell carcinoma官方记录
- cavrotolimod美国2021-03-01Treatment of merkel cell carcinoma官方记录
- bi-specific fragment crystallizable region (Fc) fusion protein contain美国2022-10-17Treatment of Merkel cell carcinoma官方记录
- topotecan liposome injection美国2024-03-21Treatment of Merkel Cell Carcinoma官方记录
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 2L2
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。
当前没有检索到登记为可入组的试验。
其他状态的试验（2 项）
- 进行中·不再招募NCT05544929A Study of Safety and Efficacy of KFA115 Alone and in Combo With Pembrolizumab in Patients With Select Advanced Cancers中国研究中心 2 个：Beijing、Guangzhou
- 进行中·不再招募NCT05879822A Study to Evaluate INCB099280 in Participants With Select Solid Tumors Who Are Immune Checkpoint Inhibitor Naive中国研究中心 1 个：Nanning
中国境外的在招试验 60L2
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44澳大利亚10意大利6法国6德国5西班牙5日本3韩国3比利时2土耳其2爱尔兰2葡萄牙2加拿大2Uganda1另有 9 个国家/地区
共 25 项。
- 尚未开始招募NCT07576725Low Dose, Reduced Frequency Nivolumab for the Treatment of Unresectable or Metastatic Cancer, AFFORD IO TrialUganda
- 尚未开始招募NCT07472322ASTX727 & Retifanlimab-dlwr for Advanced Merkel Cell After Progression on Anti-PD-(L)1美国
- 招募中NCT07749586A Study to Evaluate ARV-6723 Alone and With Pembrolizumab in Participants With Advanced Solid Tumors美国
- 招募中NCT07600476A First-in-Human Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of KUP-101A in Patients With Selected Advanced Solid Tumors德国
- 招募中NCT07302347A Study of Pembrolizumab in Japanese Pediatric Participants With Solid Tumors or Lymphomas and Japanese Adult Participants With Merkel Cell Carcinoma (MK-3475-G21/KEYNOTE-G21)日本
- 招募中NCT07387198Neoadjuvant Merkel Cell Carcinoma Therapy (Tx) With the PD-1 Inhibitor Cemiplimab德国
- 招募中NCT07339176Intratumoral N17350 in Advanced Solid Tumors澳大利亚、美国
- 招募中NCT07288073TIL Therapy in cSCC and MCC美国
- 招募中NCT07215988Studying Off Label Insurance Coverage for Patients With Cutaneous Cancers a "Filter" Observational Study美国
- 招募中NCT07285044The Cancer Connected Access and Remote Expertise Beyond Walls Program to Provide In-Home Cancer Treatment and Improve Treatment Satisfaction in Cancer Patients Living in the Florida Panhandle and Surrounding Areas美国
- 招募中NCT06887348A Study to Assess the Long-term Safety Outcomes in Patients Previously Treated With RP1, RP2, or RP3澳大利亚、美国
- 招募中NCT06947928Placebo-Controlled Trial of IFx-Hu2.0 Followed By Pembrolizumab In Checkpoint Inhibitor Naïve Participants With Advanced Or Metastatic Merkel Cell Carcinoma美国
- 招募中NCT04119024Gene Modified Immune Cells After Conditioning Regimen for the Treatment of Stage IIIC or IV Melanoma or Metastatic Solid Tumors美国
- 招募中NCT06940440IFx-Hu2.0 As An Adjunctive Therapy To Pembrolizumab In Advanced Or Metastatic Merkel Cell Carcinoma (MCC)美国
- 招募中NCT06814496Radiation Combined With BIspecific T-Cell Engager in DLL3 Expressing Tumors美国
外部标识与链接
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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）