文章：

在免疫球蛋白轻链淀粉样变性患者中，异常的FISH是心脏受累和死亡的危险因素

Abnormal FISH in patients with immunoglobulin light chain amyloidosis is a risk factor for cardiac involvement and for death

原文发布日期：2015-05-01

DOI: 10.1038/bcj.2015.34

类型: Original Article

开放获取: 是

英文摘要：

Importance of interphase fluorescent in situ hybridization (FISH) with cytoplasmic staining of immunoglobulin FISH (cIg-FISH) on bone marrow is not well understood in light chain amyloidosis (AL). This is in contrast with multiple myeloma where prognostic and treatment related decisions are dependent on cytogenetic testing. This retrospective study reviewed 401 AL patients with cIg-FISH testing performed at our institution between 2004 and 2012. Eighty-one percent of patients had an abnormal cIg-FISH. Common abnormalities involved translocations of chromosome 14q32 (52%), specifically: t(11;14) (43%), t(14;16) (3%) and t(4;14) (2%). Other common abnormalities include monosomy 13/deletion 13q (30%), trisomies 9 (20%), 15 (14%), 11 (10%) and 3 (10%). Median overall survival for this cohort of patients is 3.5 years. When plasma cell burden was greater than 10% trisomies predicted for worse survival (44 vs 19 months), and when it was ⩽10% t(11;14) predicted for worse survival (53 months vs not reached). Abnormal cIg-FISH was significantly associated with advanced cardiac involvement, and remained a prognostic factor on multivariate analysis. This large AL cohort demonstrates that abnormal FISH at diagnosis is prognostic for survival and advanced cardiac disease. Particularly, trisomies and t(11;14) affect survival when degree of plasma cell burden is considered.

摘要翻译： 

在轻链淀粉样变性（AL）中，间期荧光原位杂交（FISH）结合免疫球蛋白胞浆染色（cIg-FISH）在骨髓检测中的重要性尚未得到充分认识。这与多发性骨髓瘤形成鲜明对比，后者的预后和治疗相关决策依赖于细胞遗传学检测。本回顾性研究分析了2004年至2012年间在我院接受cIg-FISH检测的401例AL患者。81%的患者存在cIg-FISH异常。常见异常涉及14q32染色体易位（52%），具体包括：t(11;14)（43%）、t(14;16)（3%）和t(4;14)（2%）。其他常见异常包括13号染色体单体/13q缺失（30%），以及9号（20%）、15号（14%）、11号（10%）和3号（10%）染色体三体。该队列患者的中位总生存期为3.5年。当浆细胞负荷大于10%时，三体异常预示更差生存期（44个月 vs 19个月）；当浆细胞负荷≤10%时，t(11;14)预示更差生存期（53个月 vs 未达到）。异常cIg-FISH与晚期心脏受累显著相关，并在多变量分析中仍是预后因素。这项大型AL队列研究证实，诊断时的异常FISH对生存期和晚期心脏病具有预后价值。特别是在考虑浆细胞负荷程度时，三体异常和t(11;14)会影响生存期。

原文链接：

Abnormal FISH in patients with immunoglobulin light chain amyloidosis is a risk factor for cardiac involvement and for death