The incidence of this rare disease is approximately one in 100,000. Due to atypical clinical manifestations, diagnosis often relies on genetic testing and enzyme activity assays.

这种罕见病的发病率约为十万分之一，由于临床表现不典型，确诊往往需要依赖基因检测和酶活性测定。

同一单元的其他句子

• Based on multidisciplinary team consultation, combined with the patient's TNM staging and overall health, we recommend a comprehensive treatment plan of neoadjuvant chemotherapy followed by radical surgery.根据多学科会诊的意见，结合患者的TNM分期和整体健康状况，我们建议采用新辅助化疗后行根治性手术的综合治疗方案。
• This drug selectively inhibits vascular endothelial growth factor receptors to block tumor angiogenesis, and has demonstrated significant improvement in progression-free survival in Phase III clinical trials.该药物通过选择性抑制血管内皮生长因子受体来阻断肿瘤血管生成，已在III期临床试验中显示出显著的无进展生存期改善。
• Given the patient's multiple comorbidities and risk of drug interactions, we recommend a comprehensive bleeding risk assessment before initiating anticoagulation therapy.鉴于患者存在多重合并症和药物相互作用风险，我们建议在开始抗凝治疗前进行全面的出血风险评估。
• The postoperative pathology report shows negative margins and no lymph node metastasis. Per NCCN guidelines, adjuvant chemotherapy is not needed; regular follow-up is recommended.术后病理报告显示切缘阴性，淋巴结未见转移，根据NCCN指南无需辅助化疗，建议定期随访即可。
• While immune checkpoint inhibitors provide significant anti-tumor efficacy, they may also trigger immune-related adverse events requiring multidisciplinary collaborative management.免疫检查点抑制剂在带来显著抗肿瘤疗效的同时，也可能引发免疫相关不良事件，需要多学科协作管理。