Multiple myeloma, a heterogeneous disease with a high mortality rate1,2
Cytogenetic abnormalities associated with MM are detectable long before symptomatic disease8,9
Multiple myeloma is characterized by the accumulation of malignant plasma cells in the bone marrow.10 Affected cells produce monoclonal immunoglobulin and invade and destroy adjacent bone tissue.11 The collection of cytogenetic abnormalities present at diagnosis is the driving force behind not only the clinical presentation of MM, but also response to treatment and overall prognosis.1,12
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Cytogenetic analysis is recommended for all suspected MM cases15
Performing a plasma cell fluorescence in situ hybridization (FISH) panel on bone marrow is an essential part of the initial diagnostic workup for MM, and for R-ISS staging of the disease.15,16
Translocations—occurrences of one piece of a chromosome breaking off and attaching to a different chromosome—are common in MM, with IgH translocations occurring in 50-70% of cases.17,18
Translocations of IgH locus18
|t(11;14)(q13;q32)||CCND1||15% to 20%|
|t(4;14)(p16;q32)||FGFR3 and MMSET||10% to 15%|
|t(14;16)(q32;q23)||MAF||2% to 5%|
CCND1 = cyclin D1; FGFR3 = fibroblast growth factor receptor 3; MMSET = multiple myeloma SET domain; MAF = v-maf musculoaponeurotic fibrosarcoma oncogene homolog; CCND3 = cyclin D3; MAFB = v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B.
mSMART 3.0 classification of risk events in active MM*19
*This is not an exhaustive list.
Standard risk is defined as having an indolent course of disease and lengthy survival, while high-risk patients experience a more aggressive course and shorter survival.20,21
Enhance the sensitivity of your FISH results with PCE
Because key decisions rely on accurate information, it is important that testing be performed appropriately. FISH is the standard of care for cytogenetic analysis in MM;23 however, compared to other hematological neoplasms, accurate FISH testing is more complicated and more time-consuming in MM.13
Accuracy of results is challenged by the dilution effect of bone marrow specimens and poor growth of plasma cells ex vivo; in some cases, total plasma cell percentage can be less than 10%.24 PCE is a process of cell separation that isolates the cells of cancerous origin.25 This enriched sample can then be analyzed with higher specificity.26 Performing FISH without undergoing PCE limits the efficacy of the assay, leading to both reduced sensitivity for translocations and an increased risk of false negatives.24
Institutional challenges also exist with cytogenetic testing as there are no uniform practices, and significant variability exists both within and between laboratories with respect to methodology, including number of cells analyzed per sample, cell selection methodology, and number of probes used.23
Multiple PCE modalities exist for FISH:
- Magnetic-activated cell sorting (MACS)24
- Fluorescence-activated cell sorting (FACS)24
- Flow cytometry18
- Plasma cell staining10
FISH at NeoGenomics
NeoGenomics has been offering high-quality FISH testing with PCE for over 10 years, having pioneered technical-only FISH testing and completing over 100,000 tech-only cases since.
We’ve provided our clients with high-quality FISH testing with PCE as part of a thorough menu of customizable panels and probes for fast, cost-effective diagnostics of myeloma disorders.
FISH tests can be ordered as disease-specific panels. Probe sets within panels may be ordered individually for detection of single abnormalities, available in global and tech-only options.
- Please ensure sample is received at NeoGenomics Laboratories within 72 hours of collection to perform PCE.
- Turnaround time for FISH testing with PCE is 4–5 days.
To order cytogenetic testing, NeoGenomics offers the following tests:
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