PPGL-Swarm自动分析肿瘤风险与遗传综合征,提升罕见肿瘤诊疗精准度。
PPGL-Swarm: Integrated Multimodal Risk Stratification and Hereditary Syndrome Detection in Pheochromocytoma and Paraganglioma
- 构建多智能体系统,分步完成评分、基因解读等诊断任务
- 自动计算细胞密度和Ki-67值,识别SDHB突变等高危因素
- 生成可追溯推理过程的报告,适合临床医生与研究者使用
嗜铬细胞瘤和副神经节瘤(PPGL)是罕见神经内分泌肿瘤,15-25%会发展为转移性疾病,5年生存率低至34%。部分病例提示遗传综合征,需针对性治疗与监测,但临床常忽视。当前采用的GAPP评分存在三重局限:(1)需手动评估六项指标,工作量大;(2)细胞密度与Ki-67评估依赖主观标准;(3)未涵盖如SDHB突变等关键风险因素——其转移率可达35%-75%。现有智能诊断系统缺乏可解释性且未融合基因信息。为此,我们提出PPGL-Swarm,一种基于多智能体的诊断系统,可自动生成包含量化细胞密度与Ki-67、基因风险预警及多模态证据整合的综合报告。系统通过将诊断拆解为微任务并分配至专用智能体实现可审计推理路径。基因与表格智能体经知识增强以优化解读,训练中采用强化学习优化工具选择与任务分配。
原文摘要 · Abstract (English)
Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors, of which 15-25% develop metastatic disease with 5-year survival rates reported as low as 34%. PPGL may indicate hereditary syndromes requiring stricter, syndrome-specific treatment and surveillance, but clinicians often fail to recognize these associations in routine care. Clinical practice uses GAPP score for PPGL grading, but several limitations remain for PPGL diagnosis: (1) GAPP scoring demands a high workload for clinician because it requires the manual evaluation of six independent components; (2) key components such as cellularity and Ki-67 are often evaluated with subjective criteria; (3) several clinically relevant metastatic risk factors are not captured by GAPP, such as SDHB mutations, which have been associated with reported metastatic rates of 35-75%. Agent-driven diagnostic systems appear promising, but most lack traceable reasoning for decision-making and do not incorporate domain-specific knowledge such as PPGL genotype information. To address these limitations, we present PPGL-Swarm, an agentic PPGL diagnostic system that generates a comprehensive report, including automated GAPP scoring (with quantified cellularity and Ki-67), genotype risk alerts, and multimodal report with integrated evidence. The system provides an auditable reasoning trail by decomposing diagnosis into micro-tasks, each assigned to a specialized agent. The gene and table agents use knowledge enhancement to better interpret genotype and laboratory findings, and during training we use reinforcement learning to refine tool selection and task assignment.
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