PDF(Pubmed)
Abstract：
Immunoglobulin light chain amyloidosis can be either systemic or localized. Although these conditions share a similar name, they are strikingly different. Localized light chain amyloidosis has been challenging to characterize due to its lower incidence and highly heterogeneous clinical presentation. Here, we review the emerging literature, emphasizing recent reports on large cohorts of patients with localized amyloidosis, and provide insights into this condition\'s pathology and natural history. We find that patients with localized amyloidosis have an excellent prognosis with overall survival similar to that of the general population. Furthermore, the risk of progression to systemic disease is low and likely represents initial mischaracterization as localized disease. Therefore, we argue for the incorporation of more sensitive techniques to rule out systemic disease at diagnosis. Despite increasing mechanistic understanding of this condition, much remains to be discovered regarding the cellular clonal evolution and the molecular processes that give rise to localized amyloid formation. While localized surgical resection of symptomatic disease is typically the treatment of choice, the presentation of this disease across the spectrum of plasmacytic B-cell lymphoproliferative disorders, and the frequent lack of an identifiable neoplastic clone, can make therapy selection a challenge in the uncommon situation that systemic chemotherapy is required.
摘要：
免疫球蛋白轻链淀粉样变性可为全身性的或局部的。尽管这些条件具有相似的名称，他们截然不同。由于其较低的发病率和高度异质性的临床表现,局部轻链淀粉样变性已成为表征的挑战。这里,我们回顾了新兴的文献，强调最近关于局部淀粉样变性患者的大型队列的报道，并提供对这种情况的病理学和自然史的见解。我们发现，局部淀粉样变性患者的预后良好，总体生存率与普通人群相似。此外，进展为全身性疾病的风险较低,很可能代表最初错误描述为局部疾病.因此,我们主张在诊断时采用更敏感的技术来排除全身性疾病.尽管对这种情况的机械理解越来越多，关于细胞克隆进化和导致局部淀粉样蛋白形成的分子过程，还有很多有待发现。虽然有症状疾病的局部手术切除是典型的治疗选择，这种疾病在浆细胞性B细胞淋巴增殖性疾病中的表现，以及经常缺乏可识别的肿瘤克隆，在需要全身化疗的罕见情况下，可以使治疗选择成为挑战。
