Hammons Lindsay, Brazauskas Ruta, Pasquini Marcelo, Hamadani Mehdi, Hari Parameswaran, D'Souza Anita
Medical College of Wisconsin Graduate School, Milwaukee, WI, USA.
Division of Biostatistics, Institute of Health and Safety, Medical College of Wisconsin, Milwaukee, WI, USA.
Hematol Oncol Stem Cell Ther. 2018 Jun;11(2):105-111. doi: 10.1016/j.hemonc.2017.07.005. Epub 2017 Aug 16.
OBJECTIVE/BACKGROUND: To assess abnormalities found on CD138-enriched fluorescent in situ hybridization (FISH) studies on pre-treatment bone marrow in systemic amyloid light-chain amyloidosis (AL) and correlate findings between these abnormalities with organ involvement and 1-year survival.
We reviewed 107 patients with systemic AL to identify the impact of a diagnostic FISH study done on plasma cell-enriched bone marrow in our institution between January 2010 and January 2015; 77 had pre-treatment testing performed.
A total of 77 (61%) patients had abnormal FISH including: hyperdiploidy (29%), t(11;14), (20%), hypodiploidy (16%), t(4;14), (1%), del17p (5%), and+1q21 (5%). Abnormal FISH studies were more likely in those patients with plasma cell involvement≥10% (p=.002). FISH abnormalities were not shown to correlate with stage, cardiac involvement, or survival at 1year. One-year survival was significantly affected by stage at diagnosis and presence of cardiac and hepatic amyloid involvement.
We conclude that in AL, FISH abnormalities are associated with clonal burden. We found no impact of these markers on the type of organ involvement or 1-year survival.
目的/背景：评估系统性轻链型淀粉样变性（AL）患者治疗前骨髓中富集CD138的荧光原位杂交（FISH）研究发现的异常情况，并将这些异常结果与器官受累情况及1年生存率相关联。
我们回顾了107例系统性AL患者，以确定2010年1月至2015年1月在我们机构对富集浆细胞的骨髓进行的诊断性FISH研究的影响；其中77例进行了治疗前检测。
共有77例（61%）患者FISH结果异常，包括：超二倍体（29%）、t(11;14)（20%）、亚二倍体（16%）、t(4;14)（1%）、del17p（5%）和+1q21（5%）。浆细胞受累≥10%的患者FISH异常的可能性更高（p = 0.002）。FISH异常与分期、心脏受累或1年生存率无关。1年生存率受诊断时分期以及心脏和肝脏淀粉样变受累情况的显著影响。
我们得出结论，在AL中，FISH异常与克隆负荷相关。我们发现这些标志物对器官受累类型或1年生存率没有影响。
