Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma

Ha, Jihye; Cho, Hyunsoo; Lee, Taek Gyu; Shin, Saeam; Chung, Haerim; Jang, Ji Eun; Kim, Soo-Jeong; Cheong, June Won; Lee, Seung Tae; Kim, Jin Seok; Choi, Jong Rak

doi:10.1038/s41598-022-11676-w

Cited by 5 publications

(5 citation statements)

References 18 publications

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“…The 100% intra-patient stability of t (11;14) observed in this study could be attributed to the well-controlled plasma cell input prior to FISH and NGS analysis, obtained after PCE (>80%), or due to improvements in technology and detection methods over the last 6-10 years. Recent studies have demonstrated that PCE is critical to optimize detection of genomic alterations; 14 thus, in the present study, it is possible that t(11;14) was detected in samples in which it would have previously been determined to be undetectable. However, it should be noted that no samples in our study were excluded for having <80% plasma cells after PCE, suggesting that consistent high-level PCE is readily achievable in clinical practice.…”

Section: Discussionmentioning

confidence: 87%

“…13 A recent study suggested that PCE may be more critical to accurate detection of cytogenetic abnormalities than previously believed, as using PCE improved the detection of abnormalities by direct FISH from 38.0% to 95.5% in diagnostic MM samples 14. This suggests that PCE has strong clinical value for improving FISH-based detection of genomic variability in MM.…”

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confidence: 99%

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t(11;14) status is stable between diagnosis and relapse, and concordant between detection methodologies based on fluorescence <i>in situ</i> hybridization and next-generation sequencing in patients with multiple myeloma

Avet-Loiseau,

Thiébaut-Millot,

et al. 2023

haematol

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Multiple myeloma (MM) is associated with a wide variety of recurrent genomic alterations. The most common translocation in MM is t(11;14). In this retrospective, single-center, non-interventional study, patient bone marrow samples were examined at diagnosis and at relapse(s) following treatment with anti-myeloma regimens to determine whether t(11;14) status was stable over time. This Stability Cohort consisted of 272 patients, of whom 118 were t(11;14)-positive at diagnosis and 154 were negative. All patients in the Stability Cohort retained the same t(11;14) status at relapse that they had at diagnosis of MM. Sixteen patients who had t(11;14)-positive MM at diagnosis had multiple longitudinal FISH assessments at relapse events, which remained t(11;14)-positive across all time points. Patients who had t(11;14)-positive disease at diagnosis of monoclonal gammopathy of unknown significance (MGUS) or smoldering multiple myeloma (SMM) also retained t(11;14) positivity through MM diagnosis and relapse. The t(11;14) fusion patterns also remained constant for 90% of patients. For detection of t(11;14), results from fluorescence in situ hybridization (FISH) and next generation sequencing (NGS) were compared to determine the rate of concordance between these 2 methods. This Concordance Cohort contained 130 patients, of whom 66 had t(11;14)-positive disease and 64 were t(11;14)-negative. In this sample set, the concordance between FISH and NGS-based detection of t(11;14) was 100%. These results strongly suggest that the t(11;14) rearrangement remains stable during the full disease course in patients with multiple myeloma and can be detected by FISH- and NGS-based methodologies.

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Section: Discussionmentioning

confidence: 87%

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confidence: 99%

t(11;14) status is stable between diagnosis and relapse, and concordant between detection methodologies based on fluorescence <i>in situ</i> hybridization and next-generation sequencing in patients with multiple myeloma

Avet-Loiseau,

Thiébaut-Millot,

et al. 2023

haematol

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“…Other uses of FISH karyotype analysis include genetic diagnosis, prenatal screening, and plant and animal genetic studies [48][49][50][51][52]. But karyotyping is highly dependent on frequency of cytogenetically abnormal cells, in need of enrichment methods such as fluorescenceactivated cell sorter (FACS) to improve the sensitivity [53]. Thus, the combination of FISH with other suitable techniques can compensate for some inherent drawbacks and break the application limitations of FISH.…”

Section: Development Of Fishmentioning

confidence: 99%

Application of Fluorescence In Situ Hybridization (FISH) in Oral Microbial Detection

Wang

Zhang

et al. 2022

Pathogens

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Varieties of microorganisms reside in the oral cavity contributing to the occurrence and development of microbes associated with oral diseases; however, the distribution and in situ abundance in the biofilm are still unclear. In order to promote the understanding of the ecosystem of oral microbiota and the diagnosis of oral diseases, it is necessary to monitor and compare the oral microorganisms from different niches of the oral cavity in situ. The fluorescence in situ hybridization (FISH) has proven to be a powerful tool for representing the status of oral microorganisms in the oral cavity. FISH is one of the most routinely used cytochemical techniques for genetic detection, identification, and localization by a fluorescently labeled nucleic acid probe, which can hybridize with targeted nucleic acid sequences. It has the advantages of rapidity, safety, high sensitivity, and specificity. FISH allows the identification and quantification of different oral microorganisms simultaneously. It can also visualize microorganisms by combining with other molecular biology technologies to represent the distribution of each microbial community in the oral biofilm. In this review, we summarized and discussed the development of FISH technology and the application of FISH in oral disease diagnosis and oral ecosystem research, highlighted its advantages in oral microbiology, listed the existing problems, and provided suggestions for future development..

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“…Plasma cell enrichment methods, such as immunomagnetic or Fluorescence-Activated Cell Sorting (FACS) based on plasma cell antigen expression (e.g., CD138; light chains), are commonly used. 8,9 Other whole cell methods are available to ensure the FISH signal is assessed on plasma cells (e.g., 'target FISH') but are less commonly used. 10 Most FISH analyses are performed on bone marrow samples and rarely on circulating myeloma cells isolated after an enrichment process.…”

Section: Introductionmentioning

confidence: 99%

“…FISH involves the hybridization of fluorescently labeled DNA probes to chromosomal regions of interest and signals overlying counterstained nuclei assessed by fluorescence microscopy. Plasma cell enrichment methods, such as immuno‐magnetic or Fluorescence‐Activated Cell Sorting (FACS) based on plasma cell antigen expression (e.g., CD138; light chains), are commonly used 8,9 . Other whole cell methods are available to ensure the FISH signal is assessed on plasma cells (e.g., ‘target FISH’) but are less commonly used 10 .…”

Section: Introductionmentioning

confidence: 99%

Imaging flow cytometric detection of del(17p) in bone marrow and circulating plasma cells in multiple myeloma

Mincherton,

Lam,

Clarke

et al. 2024

Int J Lab Hematology

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BackgroundDetection of del(17p) in myeloma is generally performed by fluorescence in situ hybridization (FISH) on a slide with analysis of up to 200 nuclei. The small cell sample analyzed makes this a low precision test. We report the utility of an automated FISH method, called “immuno‐flowFISH”, to detect plasma cells with adverse prognostic risk del(17p) in bone marrow and blood samples of patients with myeloma.MethodsBone marrow (n = 31) and blood (n = 19) samples from 35 patients with myeloma were analyzed using immuno‐flowFISH. Plasma cells were identified by CD38/CD138‐immunophenotypic gating and assessed for the 17p locus and centromere of chromosome 17. Cells were acquired on an AMNIS ImageStreamX MkII imaging flow cytometer using INSPIRE software.ResultsChromosome 17 abnormalities were identified in CD38/CD138‐positive cells in bone marrow (6/31) and blood (4/19) samples when the percent plasma cell burden ranged from 0.03% to 100% of cells. Abnormalities could be identified in 14.5%–100% of plasma cells.ConclusionsThe “immuno‐flowFISH” imaging flow cytometric method could detect del(17p) in plasma cells in both bone marrow and blood samples of myeloma patients. This method was also able to detect gains and losses of chromosome 17, which are also of prognostic significance. The lowest levels of 0.009% (bone marrow) and 0.001% (blood) for chromosome 17 abnormalities was below the detection limit of current FISH method. This method offers potential as a new means of identifying these prognostically important chromosomal defects, even when only rare cells are present and for serial disease monitoring.

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Cytogenetic testing by fluorescence in situ hybridization is improved by plasma cell sorting in multiple myeloma

Cited by 5 publications

References 18 publications

t(11;14) status is stable between diagnosis and relapse, and concordant between detection methodologies based on fluorescence <i>in situ</i> hybridization and next-generation sequencing in patients with multiple myeloma

t(11;14) status is stable between diagnosis and relapse, and concordant between detection methodologies based on fluorescence <i>in situ</i> hybridization and next-generation sequencing in patients with multiple myeloma

Application of Fluorescence In Situ Hybridization (FISH) in Oral Microbial Detection

Imaging flow cytometric detection of del(17p) in bone marrow and circulating plasma cells in multiple myeloma

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