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Multiple myeloma is preceded by recognisable precursor states and is risk-stratified using cytogenetic abnormalities detected by fluorescence in situ hybridisation. Treatment proceeds through sequential lines, and measurable residual disease is increasingly used to assess depth of response. Directly targetable alterations are uncommon.
Also called Plasma cell myeloma, MM.
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Myeloma is a disease of repeated remissions and relapses, so risk classification at diagnosis and depth of response over time matter more than finding a single targetable alteration.
Multiple myeloma is preceded by recognisable precursor states and is risk-stratified using cytogenetic abnormalities detected by fluorescence in situ hybridisation. Treatment proceeds through sequential lines, and measurable residual disease is increasingly used to assess depth of response. Directly targetable alterations are uncommon.
01Before any molecular question
Usually established first: whether the diagnosis is a precursor state or myeloma requiring treatment, the pattern of organ involvement, and cytogenetic risk. Kidney function and bone disease are immediate practical concerns that shape treatment choices.
Usually already established
02
The divisions below are not labels. Each one changes what the treatment discussion is actually about.
Monoclonal gammopathy of undetermined significance
A precursor state found on blood tests. Monitored rather than treated.
Smouldering myeloma
An intermediate state. The discussion is about risk of progression and whether early treatment is warranted.
Newly diagnosed myeloma requiring treatment
Where risk classification shapes the treatment approach.
High-risk myeloma
Defined by specific cytogenetic abnormalities, often in combination. Managed more intensively.
Relapsed or refractory myeloma
Where the specific prior agent classes, rather than the number of prior lines, determine what comes next.
Plasma cell leukaemia and extramedullary disease
Aggressive presentations requiring a different approach.
03What is discussed
Cytogenetic abnormalities detected by fluorescence in situ hybridisation are the backbone of risk classification: t(4;14), t(14;16), t(14;20), del(17p) and gain or amplification of 1q are associated with higher risk, while t(11;14) and hyperdiploidy are associated with standard risk. t(11;14) has specific therapeutic interest. TP53 alteration, particularly with del(17p), carries substantial weight. Next-generation sequencing panels add information but have not displaced FISH for risk classification. Measurable residual disease assessment by flow cytometry or sequencing is increasingly used.
del(17p) and TP53
High-risk findings, carrying substantial weight in the treatment discussion.
t(4;14), t(14;16), t(14;20)
High-risk translocations detected by FISH.
1q gain and amplification
Associated with higher risk, particularly when amplified rather than gained.
t(11;14)
Standard risk, with specific therapeutic interest.
Measurable residual disease
Increasingly used to assess depth of response.
BCMA, GPRC5D
Surface targets relevant to immune-based treatment approaches.
This is not an exhaustive list, and which markers are relevant depends on the individual case. Not every marker listed is assessed in every patient.
04What is tested, and from what
FISH on plasma cells enriched from a bone marrow sample is the core test, and the enrichment step matters: unenriched samples can give misleading results because plasma cells may be a small proportion of the marrow. Risk classification should be established at diagnosis and reassessed at relapse, since the cytogenetic picture can evolve. Measurable residual disease assessment requires a sample taken at the right time and a baseline sequence for some methods.
Familial clustering is described, and first-degree relatives of people with myeloma or its precursor states have a modestly increased risk. No single high-penetrance gene explains most cases, and germline testing is not a routine part of the pathway.
Cancer genetics and hereditary riskCirculating tumour cells and cell-free DNA are under study in myeloma, with particular interest in capturing the heterogeneity that a single marrow aspirate can miss, since myeloma is patchy in the marrow. Serum and urine protein measurements remain the practical monitoring tools.
More on ctDNA monitoring05The timing question
Testing that arrives after the decision it was meant to inform has already been made is a common and avoidable problem. This is the sequence in which molecular information tends to become relevant.
06Take these to your team
When a decision is being made
Questions worth raising with a treating team.
At progression, recurrence or resistance
The molecular picture at diagnosis is not always the molecular picture later.
07What shapes eligibility
Eligibility is written around prior agent classes, refractory status to specific drugs, cytogenetic risk and organ function. Because myeloma treatment cycles through several classes, precisely which drugs a patient is refractory to is usually the decisive criterion.
| Term | What it means |
|---|---|
| FISH | Fluorescence in situ hybridisation. A test for specific chromosomal changes, still central in myeloma. |
| Plasma cell enrichment | Separating plasma cells from other marrow cells before testing, so the result reflects the disease. |
| Smouldering myeloma | Disease present but not yet causing organ damage. Monitored rather than treated in most cases. |
| Refractory | Disease that does not respond to, or progresses on, a specific treatment. |
| Extramedullary disease | Myeloma growing outside the bone marrow. Associated with a more aggressive course. |
These are the services most often relevant to this cancer. Which of them applies is a clinical question, not an automatic one.
This entry is educational. It describes what is commonly discussed in this cancer, not what should happen for any individual. Which of it applies depends on the specific diagnosis, stage, prior treatment and the person themselves. Nothing here is a recommendation, and no list of biomarkers here is exhaustive. Decisions belong with a treating team who know the whole case.
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