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