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Myelodysplastic syndromes and myeloproliferative neoplasms are clonal disorders of blood-forming cells. Molecular testing is central to diagnosis and risk classification in both. Risk scoring systems now incorporate molecular findings directly, and inherited predisposition is recognised more often than it once was.
Also called MDS, MPN, Myelofibrosis, Polycythaemia vera, Essential thrombocythaemia.
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These are chronic clonal disorders where the molecular profile establishes the diagnosis, predicts risk, and increasingly identifies inherited predisposition, which makes sequencing part of the diagnosis rather than an addition to it.
Myelodysplastic syndromes and myeloproliferative neoplasms are clonal disorders of blood-forming cells. Molecular testing is central to diagnosis and risk classification in both. Risk scoring systems now incorporate molecular findings directly, and inherited predisposition is recognised more often than it once was.
01Before any molecular question
Usually established first: the blood count abnormality, bone marrow findings, cytogenetics and molecular profile. In myeloproliferative neoplasms, driver mutation status is part of the diagnostic criteria themselves rather than supplementary.
Usually already established
02
The divisions below are not labels. Each one changes what the treatment discussion is actually about.
Myelodysplastic syndromes
Characterised by ineffective blood production and a risk of progression to acute myeloid leukaemia. Risk classification determines the entire approach.
Polycythaemia vera, essential thrombocythaemia and myelofibrosis
Myeloproliferative neoplasms, defined in part by JAK2, CALR or MPL status.
MDS/MPN overlap syndromes
Including chronic myelomonocytic leukaemia, with features of both.
Clonal haematopoiesis
A precursor state found in otherwise healthy people, particularly with age. Not a cancer, and important not to over-interpret.
03What is discussed
In myeloproliferative neoplasms, JAK2 V617F, CALR and MPL mutations are the driver alterations and form part of the diagnostic criteria. In myelodysplastic syndromes, SF3B1, TP53, ASXL1, RUNX1, EZH2, SRSF2, U2AF1 and TET2 among others carry diagnostic and prognostic weight, and current risk scoring systems incorporate molecular findings directly. SF3B1 defines a distinct and relatively favourable entity. TP53, particularly when both copies are affected, carries substantial weight. del(5q) defines a specific entity with its own management.
JAK2, CALR, MPL
Driver mutations in myeloproliferative neoplasms. Part of the diagnostic criteria.
SF3B1
Defines a distinct and relatively favourable MDS entity.
TP53
Carries substantial weight, particularly when both gene copies are affected.
ASXL1, RUNX1, EZH2, SRSF2, U2AF1
Prognostically relevant in MDS, and now incorporated into risk scoring.
del(5q)
A cytogenetic finding defining a specific entity with its own management.
Germline predisposition genes
DDX41, RUNX1, GATA2 and others, recognised increasingly often.
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
Sequencing is part of establishing the diagnosis and risk in both disease groups, not an optional addition. Current MDS risk scoring incorporates molecular results directly, so a risk score calculated without them is incomplete. Interpretation requires care, because some of the same mutations occur in clonal haematopoiesis in healthy older people, and finding one does not by itself establish a malignant diagnosis.
Germline predisposition to myeloid malignancy is now recognised in a meaningful minority of cases. DDX41 is particularly relevant in older adults, which was unexpected and changed how the question is framed: inherited predisposition is not only a young person’s issue. RUNX1, GATA2, CEBPA, ETV6 and ANKRD26 are also described, along with telomere biology disorders. This matters urgently when a relative is being considered as a stem cell donor.
Cancer genetics and hereditary riskBlood and marrow are sampled directly. Serial molecular monitoring is used to track clonal evolution, and in myeloproliferative neoplasms the allele burden of the driver mutation is sometimes followed over time.
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 risk category, specific mutations, prior therapy and transfusion dependence. Because risk scoring now incorporates molecular data, an incomplete molecular profile can prevent accurate risk assignment and therefore eligibility assessment.
| Term | What it means |
|---|---|
| Clonal haematopoiesis | A population of blood cells sharing a mutation, common with age and not itself a cancer. |
| Allele burden | What proportion of cells carry a particular mutation. Followed over time in some conditions. |
| Ineffective haematopoiesis | When the marrow produces cells that do not mature or survive properly. |
| Transfusion dependence | Needing regular transfusions. A practical measure of disease impact and a common trial criterion. |
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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