Diagnosis and staging

Diagnosis and prognosis of MDS is based on peripheral blood and bone marrow aspirate and trephine.

Investigations of the bone marrow aspirate may include:

• immunophenotyping
• cytogenetics, FISH studies (in some circumstances)
• molecular testing or a myeloid gene panel test in selected patients.

Other investigations and blood tests should be completed to exclude other causes of cytopenias and dysplasia.

Although MDS diagnosis is confirmed by a bone marrow biopsy, it may be reasonable to monitor some patients rather than proceed to bone marrow biopsy, depending on the severity of cytopenias, the patient’s preference, age and comorbidities.

Genetic testing

An inherited predisposition panel may be appropriate in selected patients with MDS. This should be undertaken after counselling and discussion with a haematologist with experience in this area and/or a genetic counsellor.

Treatment planning

If indicated for the patient, the multidisciplinary team should meet before recommending a definitive treatment plan.

Research and clinical trials

Consider enrolment where available and appropriate.

See the OCP resources appendix and relevant steps for clinical trial resources relevant to MDS.

Communication

The lead clinician’s¹ responsibilities include:

• discussing a timeframe for diagnosis and treatment options with the patient and/or carer
• explaining the role of the multidisciplinary team where indicated in treatment planning and ongoing care
• encouraging discussion about the diagnosis, prognosis, advance care planning and palliative care while clarifying the patient’s wishes, needs, beliefs and expectations, and their ability to comprehend the communication
• providing appropriate information and referral to support services as required
• communicating with the patient’s GP about the diagnosis, treatment plan and recommendations from multidisciplinary meetings.

Checklist

• Diagnosis confirmed
• Performance status and comorbidities measured and recorded
• Where appropriate, patient discussed at a multidisciplinary meeting and decisions provided to the patient and/or carer
• Clinical trial considered
• Supportive care needs assessed and referrals to allied health services actioned as required
• Referral to support services (e.g. Cancer Council, Leukaemia Foundation)
• Treatment costs discussed with the patient and/ or carer

Timeframe

The urgency of investigations depends on the severity of cytopenias and clinical presentation. Bone marrow biopsy results and ancillary investigations are usually returned within two weeks. Specialised testing such as cytogenetics and molecular tests may take longer.

1 Lead clinician – the clinician who is responsible for managing patient care. The lead clinician may change over time depending on the stage of the care pathway and where care is being provided.