Bot Nathalie, Fournier Evelyne, Amram Marie-Laure, Botta Laura, Bernasconi Alice, Rapiti Elisabetta
Institute of Global Health, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Geneva Cancer Registry, University of Geneva, Geneva, Switzerland.
Front Oncol. 2025 Apr 7;15:1557424. doi: 10.3389/fonc.2025.1557424. eCollection 2025.
Globally, cancer cases are expected to significantly increase due to population growth and aging, reaching 29.9 million by 2040 (+49.5% since 2022) and 32.6 million by 2045 (+63%), with countries like Switzerland forecasting a 36.5% increase. Rare cancers, defined as less than six cases/100,000 individuals/year, account for 15-24% for recent nationwide studies but they have fewer treatment options and lower survival rates. Using the Geneva Cancer Registry, we analyzed rare cancer incidence and survival rates in adults from the canton of Geneva, Switzerland (2011-2020), with the aim of informing future research at local and national levels.
We analyzed adult patients diagnosed with invasive cancers (2011-2020) in Geneva using Geneva Cancer Registry data, which were annually updated. Rare cancers were defined according to RARECAREnet criteria (incidence less than six cases/100,000 individuals/year) and categorized into Tier 1 and Tier 2 entities based on clinical features. Crude and standardized incidence rates were calculated for both sexes using the 1976 European reference population, as well as age-specific rates for rare and common cancers. Five-year survival rates were estimated using the Kaplan-Meier method. Survival differences between rare and common cancers were assessed using log-rank tests and Cox proportional hazards models adjusted for age and gender. Statistical analyses were performed using STATA software.
Between 2011 and 2020, 31,233 invasive cancers were diagnosed in adults in Geneva, of which 4,296 cases (13.75%) were classified as rare based on aforementioned thresholds. While some rare Tier 1 cancers included common subtypes, most Tier 2 cancers (141 in total) were classified as rare, with significant gender disparities. Men had higher rare cancer rates such as epithelial hypopharynx, larynx, and liver tumors, while women had higher rates of squamous cell carcinoma of the anus. Rare neuroendocrine tumors, central nervous system tumors, and hematological malignancies, such as follicular B lymphoma and acute myeloid leukemia, were also prevalent among rare cancers. Rare cancers increase with age, but less so than common cancers. The 5-year survival rate for rare cancers was 58.4% when compared with 62.3% for common cancers, indicating a 15.7% higher risk of death for patients with these cancers.
These findings highlight the critical challenges and requirements of targeted research and improving care strategies for rare cancers. Efforts combatting such cancers include European Reference Networks and the Swiss Sarcoma Network, which have improved access to care via collaborative efforts. In Switzerland, Molecular Tumor Boards have leveraged genomic knowledge to refine treatments and allow patient participation in clinical trials. Early referral to such boards for aggressive or treatment-limited cancers can streamline care and facilitate patient access to specialist centers. However, Switzerland requires more comprehensive data on the distribution of rare cancers in terms of age, gender, and region to improve management strategies at national levels.
在全球范围内，由于人口增长和老龄化，癌症病例预计将显著增加，到2040年将达到2990万例（自2022年以来增长49.5%），到2045年将达到3260万例（增长63%），像瑞士这样的国家预计增长36.5%。罕见癌症定义为每年每10万人中病例数少于6例，在近期全国性研究中占15% - 24%，但治疗选择较少且生存率较低。利用日内瓦癌症登记处的数据，我们分析了瑞士日内瓦州成年人（2011 - 2020年）的罕见癌症发病率和生存率，旨在为地方和国家层面的未来研究提供信息。
我们使用每年更新的日内瓦癌症登记处数据，分析了2011年至2020年在日内瓦被诊断为侵袭性癌症的成年患者。根据RARECAREnet标准定义罕见癌症（发病率少于每年每10万人6例），并根据临床特征分为1级和2级实体。使用1976年欧洲参考人群计算男女的粗发病率和标准化发病率，以及罕见和常见癌症的年龄别发病率。使用Kaplan - Meier方法估计五年生存率。使用对数秩检验和调整年龄和性别的Cox比例风险模型评估罕见癌症和常见癌症之间的生存差异。使用STATA软件进行统计分析。
2011年至2020年期间，日内瓦的成年人中诊断出31233例侵袭性癌症，其中4296例（13.75%）根据上述阈值被归类为罕见癌症。虽然一些罕见的1级癌症包括常见亚型，但大多数2级癌症（共141例）被归类为罕见癌症，且存在显著的性别差异。男性的罕见癌症发病率较高，如上皮性下咽癌、喉癌和肝肿瘤，而女性肛门鳞状细胞癌的发病率较高。罕见的神经内分泌肿瘤、中枢神经系统肿瘤以及血液系统恶性肿瘤，如滤泡性B淋巴瘤和急性髓系白血病，在罕见癌症中也很常见。罕见癌症随年龄增长而增加，但增幅小于常见癌症。罕见癌症的五年生存率为58.4%，而常见癌症为62.3%，这表明这些癌症患者的死亡风险高15.7%。
这些发现凸显了针对罕见癌症进行靶向研究和改善护理策略的关键挑战和要求。对抗此类癌症的努力包括欧洲参考网络和瑞士肉瘤网络，它们通过合作努力改善了医疗服务的可及性。在瑞士，分子肿瘤委员会利用基因组知识优化治疗，并允许患者参与临床试验。对于侵袭性或治疗受限的癌症，尽早转诊至此类委员会可以简化护理流程，并促进患者进入专科中心。然而，瑞士需要关于罕见癌症在年龄、性别和地区分布方面更全面的数据，以改善国家层面的管理策略。
