Zorlu Tugba, Kayer Merve Apaydin, Okumus Nazik, Ulaş Turgay, Dal Mehmet Sinan, Altuntas Fevzi
Department of Hematology & Apheresis Unit, Ankara Oncology Training and Research Hospital, University of Health Sciences, Ankara 06200, Türkiye.
Diagnostics (Basel). 2025 Jul 4;15(13):1708. doi: 10.3390/diagnostics15131708.
Multiple myeloma (MM) is a heterogeneous plasma cell malignancy with non-specific symptoms and disease heterogeneity at clinical and biological levels. This non-specific set of symptoms, including bone pain, anemia, renal failure, hypercalcemia, and neuropathy, can mislead diagnosis as chronic or benign conditions, resulting in a delay in diagnosis. Timely identification is paramount to prevent organ damage and reduce morbidity. In this review, we present an overview of recent literature concerning the factors leading to the delayed diagnosis of MM and the impact of delayed diagnosis. This includes factors relevant to physicians and systems, diagnostic processes, primary healthcare services, and laboratory and imaging data access and interpretation. Other emerging technologies to diagnose NCIs include AI-based decision support systems and biomarker-focused strategies. Delayed diagnosis can lead to presentation at advanced disease stages associated with life-threatening complications and shorter progression-free survival. Patients are often seen by many physicians before they are referred to hematology. Understanding of clinical red flags for MM in primary care is inadequate. Our findings indicate that limited access to diagnostic tests, inconsistent follow-up of MGUS/SMM patients, and a lack of interdepartmental coordination delay the diagnostic process. Multimodal tools for early diagnosis of MM. Educational campaigns to raise awareness of the disease, algorithms dedicated to routine care and novel technologies, including AI and big data analytics, and new biomarkers may serve this purpose, as well as genomic approaches to the premalignant MGUS stage.
多发性骨髓瘤(MM)是一种异质性浆细胞恶性肿瘤,在临床和生物学水平上具有非特异性症状和疾病异质性。这一系列非特异性症状,包括骨痛、贫血、肾衰竭、高钙血症和神经病变,可能会将诊断误诊为慢性或良性疾病,从而导致诊断延迟。及时识别对于预防器官损伤和降低发病率至关重要。在本综述中,我们概述了近期有关导致MM诊断延迟的因素以及诊断延迟影响的文献。这包括与医生和系统、诊断流程、基层医疗服务以及实验室和影像数据获取与解读相关的因素。其他用于诊断非癌症疾病(NCIs)的新兴技术包括基于人工智能的决策支持系统和以生物标志物为重点的策略。诊断延迟会导致患者在疾病晚期出现,伴有危及生命的并发症且无进展生存期缩短。患者在转诊至血液科之前通常会看很多医生。基层医疗中对MM临床警示信号的认识不足。我们的研究结果表明,诊断检查的获取受限、MGUS/SMM患者随访不一致以及缺乏部门间协调会延迟诊断过程。用于MM早期诊断的多模式工具。开展提高对该疾病认识的教育活动、用于常规护理的算法以及包括人工智能和大数据分析在内的新技术、新生物标志物,以及针对癌前MGUS阶段的基因组方法可能都有助于实现这一目标。