罕见病知识库 RareSeen

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 33L2

2024/10 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。

  • 2026-08开放获取
    Anatomical lymphatic drainage basin and sentinel lymph node positivity in Merkel cell carcinoma: a 37-year single-center cohort study of 400 patients
    Frontiers in oncology · DOI · Europe PMC
  • 2026-07综述开放获取
    The Nicotinic Acetylcholine Receptor-Macrophage Axis in Merkel Cell Carcinoma: Evidence, Limitations, and Therapeutic Hypotheses
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-07
    Inhibition of the ATR-CHK1 signaling pathway sensitizes MCPyV-positive Merkel cell carcinoma to gemcitabine
    BMC cancer · DOI · Europe PMC
  • 2026-07综述开放获取
    [Merkel cell carcinoma: current surgical approaches and multidisciplinary treatment]
    Revista medica del Instituto Mexicano del Seguro Social · DOI · Europe PMC
  • 2026-07综述开放获取
    Single-Cell and Spatial Transcriptomics Reframe the Immunosuppressive Microenvironment of Neuroendocrine Neoplasms
    Cancers · DOI · Europe PMC
  • 2026-05预印本
    A Case Report and Literature Review of Merkel Cell Carcinoma of the Face
    · DOI
  • 2026-05综述病例报告开放获取
    Merkel Cell Carcinoma With Divergent Differentiation-Or Something Else? A Triphasic Cutaneous Carcinoma With Lineage Plasticity
    Journal of cutaneous pathology · DOI · Europe PMC
  • 2026-05病例报告开放获取
    Expanding the dermoscopic spectrum of Merkel cell carcinoma: A case report
    JAAD case reports · DOI · Europe PMC
  • 2026-04预印本
    Merkel cell carcinoma in southern China: clinicopathologic and transcriptomic analysis with insights into an intraepidermal-predominant lesion
    · DOI
  • 2026-04综述病例报告
    Two cases of sweat gland carcinoma with neurosecretory differentiation: A report
    Indian journal of pathology & microbiology · DOI · Europe PMC
  • 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
    Current oncology (Toronto, Ont.) · DOI · Europe PMC
  • 2026-03开放获取
    A novel patient-specific solution for Merkel cell carcinoma in high-dose-rate brachytherapy
    Journal of contemporary brachytherapy · DOI · Europe PMC
  • 2026-02病例报告
    When Morphology Misleads: The Diagnostic Challenge of Large-Cell Variant Merkel Cell Carcinoma
    The American Journal of dermatopathology · DOI · Europe PMC
  • 2026-01
    Giant Palmar Merkel Cell Carcinoma With Prolonged Stability and Abrupt Progression
    International journal of dermatology · DOI · Europe PMC
  • 2026-01开放获取
    Merkel Cell Carcinoma Presenting as a Solitary Facial Nodule in a 59-Year-Old Woman
    The American Journal of dermatopathology · DOI · Europe PMC
  • 2026-01综述开放获取
    Imaging features of lacrimal gland disease
    Frontiers in ophthalmology · 被引 1 · DOI · Europe PMC
  • 2025-12开放获取
    Optimizing surgical margins in the treatment of eyelid Merkel cell carcinoma: a tertiary center experience and literature review
    Frontiers in ophthalmology · DOI · Europe PMC
  • 2025-12综述开放获取
    RB1 inactivation in cutaneous carcinomas
    Histopathology · 被引 4 · DOI · Europe PMC
  • 2025-12开放获取
    Diagnostic Utility and Clinicopathologic Associations of Histone H3 Lysine 27 Trimethylation (H3K27me3) Immunohistochemistry for Merkel Cell Carcinoma
    Modern pathology : an official journal of the United States and Canadi · 被引 1 · DOI · Europe PMC
  • 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
    BMC medical informatics and decision making · DOI · Europe PMC

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2017-09-18
    avelumab
    官方记录
  • Zynyz欧盟2024-04-19
    retifanlimab
    官方记录
  • Bavencio美国2017-03-23
    avelumab (Recombinant human monoclonal IgG1 antibody against programmed death ligand-1)
    官方记录
  • Keytruda美国2018-12-19
    pembrolizumab
    官方记录
  • Zynyz美国2023-03-22
    retifanlimab-dlwr
    官方记录
尚未获批的在研药物(7 项)

这些药已被欧盟或美国的监管机构认定为罕见病用药(英文 orphan drug designation,中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领,不是在说病人)。但这只是一种监管身份:意味着监管机构给予研发上的激励,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2016-11-18
    Treatment of Merkel cell carcinoma
    官方记录
  • navtemadlin欧盟2022-01-14
    Treatment of Merkel cell carcinoma
    官方记录
  • activated natural killer[aNK])美国2017-03-15
    Treatment of Merkel cell carcinoma
    官方记录
  • navtemadlin美国2020-04-08
    Treatment of Merkel cell carcinoma
    官方记录
  • cavrotolimod美国2021-03-01
    Treatment of merkel cell carcinoma
    官方记录
  • bi-specific fragment crystallizable region (Fc) fusion protein contain美国2022-10-17
    Treatment of Merkel cell carcinoma
    官方记录
  • topotecan liposome injection美国2024-03-21
    Treatment of Merkel Cell Carcinoma
    官方记录

数据来自欧洲药品管理局(EMA)的药品与罕见病用药资格公开导出表,以及美国 FDA 的罕见病用药资格数据库(Orphan Drug Product Designation Database)。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 3L2

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 1

  • 招募中NCT07070232
    A Clinical Study to Test if an Investigational Treatment Called BNT326 is Safe and Potentially Beneficial When Used Alone or in Combination With Other Investigational Treatments Such as BNT327, for People With Advanced Malignant Tumors
    I 期、II 期 · 干预性 · 2025/08/12BioNTech SE
    中国研究中心 4 个:Hangzhou、Tianjin、Wuhan
其他状态的试验(2 项)
  • 进行中·不再招募NCT05544929
    A Study of Safety and Efficacy of KFA115 Alone and in Combo With Pembrolizumab in Patients With Select Advanced Cancers
    I 期 · 干预性 · 2022/10/26Novartis Pharmaceuticals
    中国研究中心 2 个:Beijing、Guangzhou
  • 进行中·不再招募NCT05879822
    A Study to Evaluate INCB099280 in Participants With Select Solid Tumors Who Are Immune Checkpoint Inhibitor Naive
    II 期 · 干预性 · 2023/10/30Incyte Corporation
    中国研究中心 1 个:Nanning

中国境外的在招试验 61L2

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9法国6意大利5德国4韩国4西班牙4日本3加拿大3爱尔兰2葡萄牙2Uganda1Russia1阿根廷1另有 8 个国家/地区

CT.gov 报告命中 61 项,此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07576725
    Low Dose, Reduced Frequency Nivolumab for the Treatment of Unresectable or Metastatic Cancer, AFFORD IO Trial
    II 期 · 干预性 · 2026/12/01Fred Hutchinson Cancer Center
    Uganda
  • 尚未开始招募NCT07472322
    ASTX727 & Retifanlimab-dlwr for Advanced Merkel Cell After Progression on Anti-PD-(L)1
    I 期、II 期 · 干预性 · 2026/09University of Wisconsin, Madison
    美国
  • 招募中NCT07749586
    A Study to Evaluate ARV-6723 Alone and With Pembrolizumab in Participants With Advanced Solid Tumors
    I 期、II 期 · 干预性 · 2026/07/29Arvinas Inc.
    美国
  • 招募中NCT07600476
    A First-in-Human Study to Evaluate the Safety, Pharmacokinetics and Pharmacodynamics of KUP-101A in Patients With Selected Advanced Solid Tumors
    I 期 · 干预性 · 2026/07/03Kupando GmbH
    德国
  • 招募中NCT07302347
    A 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)
    I 期、II 期 · 干预性 · 2026/06/23Merck Sharp & Dohme LLC
    日本
  • 招募中NCT07387198
    Neoadjuvant Merkel Cell Carcinoma Therapy (Tx) With the PD-1 Inhibitor Cemiplimab
    II 期 · 干预性 · 2026/05/29Institut für Klinische Krebsforschung IKF GmbH at Krankenhaus Nordwest
    德国
  • 招募中NCT07339176
    Intratumoral N17350 in Advanced Solid Tumors
    I 期、II 期 · 干预性 · 2026/05/25Onchilles Pharma Inc
    澳大利亚、美国
  • 招募中NCT07288073
    TIL Therapy in cSCC and MCC
    II 期 · 干预性 · 2026/02/10Karam Khaddour, MD, MS
    美国
  • 招募中NCT07215988
    Studying Off Label Insurance Coverage for Patients With Cutaneous Cancers a "Filter" Observational Study
    观察性 · 2026/02/04Ohio State University Comprehensive Cancer Center
    美国
  • 招募中NCT07285044
    The 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
    II 期 · 干预性 · 2025/12/18Mayo Clinic
    美国
  • 招募中NCT06887348
    A Study to Assess the Long-term Safety Outcomes in Patients Previously Treated With RP1, RP2, or RP3
    观察性 · 2025/12/12Replimune, Inc.
    澳大利亚、美国
  • 招募中NCT06947928
    Placebo-Controlled Trial of IFx-Hu2.0 Followed By Pembrolizumab In Checkpoint Inhibitor Naïve Participants With Advanced Or Metastatic Merkel Cell Carcinoma
    II 期、III 期 · 干预性 · 2025/12/11TuHURA Biosciences, Inc.
    美国
  • 招募中NCT07006727
    Phase I Study of [225Ac]Ac-ETN029 in Patients With Advanced DLL3-expressing Solid Tumors
    I 期 · 干预性 · 2025/10/16Novartis Pharmaceuticals
    加拿大、韩国、美国
  • 招募中NCT04119024
    Gene Modified Immune Cells After Conditioning Regimen for the Treatment of Stage IIIC or IV Melanoma or Metastatic Solid Tumors
    I 期 · 干预性 · 2025/10/07Anusha Kalbasi
    美国
  • 招募中NCT06940440
    IFx-Hu2.0 As An Adjunctive Therapy To Pembrolizumab In Advanced Or Metastatic Merkel Cell Carcinoma (MCC)
    I 期 · 干预性 · 2025/10TuHURA Biosciences, Inc.
    美国

外部标识与链接

OrphanetMONDO:0019210GARD:9266ICD-10 C44.3、C44.6、C44.7ICD-11 2C34ClinicalTrials.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)