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使用流式细胞术荧光原位杂交(FACS-FISH)可提高浆细胞 FISH 的检测率。

Superior detection rate of plasma cell FISH using FACS-FISH.

机构信息

Department of Laboratory Medicine and Pathology, Division of Laboratory Genetics, Mayo Clinic, Rochester, MN, US.

Department of Medicine, Division of Hematology/Oncology, Mayo Clinic, Jacksonville, FL, US.

出版信息

Am J Clin Pathol. 2024 Jan 4;161(1):60-70. doi: 10.1093/ajcp/aqad108.

Abstract

OBJECTIVES

Fluorescence in situ hybridization (FISH) for plasma cell neoplasms (PCNs) requires plasma cell (PC) identification or purification strategies to optimize results. We compared the efficacy of cytoplasmic immunoglobulin FISH (cIg-FISH) and fluorescence-activated cell sorting FISH (FACS-FISH) in a clinical laboratory setting.

METHODS

The FISH analysis results of 14,855 samples from individuals with a suspected PCN subjected to cytogenetic evaluation between 2019 and 2022 with cIg-FISH (n = 6917) or FACS-FISH (n = 7938) testing were analyzed.

RESULTS

Fluorescence-activated cell sorting-FISH increased the detection rate of abnormalities in comparison with cIg-FISH, with abnormal results documented in 54% vs 50% of cases, respectively (P < .001). It improved the detection of IGH::CCND1 (P < .001), IGH::MAF (P < .001), IGH::MAFB (P < .001), other IGH rearrangements (P < .001), and gains/amplifications of 1q (P < .001), whereas the detection rates of IGH::FGFR3 fusions (P = .3), loss of 17p (P = .3), and other abnormalities, including hyperdiploidy (P = .5), were similar. Insufficient PC yield for FISH analysis was decreased between cIg-FISH and FACS-FISH (22% and 3% respectively, P < .001). Flow cytometry allowed establishment of ploidy status in 91% of cases. In addition, FACS-FISH decreased analysis times, workload efforts, and operating costs.

CONCLUSIONS

Fluorescence-activated cell sorting-FISH is an efficient PC purification strategy that affords significant improvement in diagnostic yield and decreases workflow requirements in comparison with cIg-FISH.

摘要

目的

荧光原位杂交(FISH)检测浆细胞肿瘤(PCN)需要浆细胞(PC)的鉴定或纯化策略来优化结果。我们比较了细胞质免疫球蛋白 FISH(cIg-FISH)和荧光激活细胞分选 FISH(FACS-FISH)在临床实验室环境中的效果。

方法

分析了 2019 年至 2022 年间进行细胞遗传学评估的疑似浆细胞肿瘤患者的 14855 例样本的 FISH 分析结果,这些患者分别接受了 cIg-FISH(n=6917)或 FACS-FISH(n=7938)检测。

结果

与 cIg-FISH 相比,FACS-FISH 提高了异常的检出率,异常结果分别记录在 54%和 50%的病例中(P<0.001)。它提高了IGH::CCND1(P<0.001)、IGH::MAF(P<0.001)、IGH::MAFB(P<0.001)、其他 IGH 重排(P<0.001)和 1q 获得/扩增(P<0.001)的检出率,而IGH::FGFR3 融合(P=0.3)、17p 缺失(P=0.3)和其他异常,包括超二倍体(P=0.5)的检出率相似。cIg-FISH 和 FACS-FISH 之间用于 FISH 分析的 PC 产量不足分别减少了 22%和 3%(P<0.001)。流式细胞术可确定 91%病例的倍性状态。此外,FACS-FISH 减少了分析时间、工作量和运营成本。

结论

与 cIg-FISH 相比,FACS-FISH 是一种有效的 PC 纯化策略,可显著提高诊断产量,并降低工作流程要求。

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