STEP 3: Diagnosis, staging and treatment planning

Diagnosis

Diagnostic evaluation is required first to establish a precise diagnosis, according to the most recent classification system, and second to assess the presence and management of comorbidities and the patient’s fitness because these affect both response to treatment and toxicity from treatment.

The treatment team should:

  • take a thorough medical history and perform a thorough physical examination, including assessing for the presence of extramedullary disease
  • undertake the following investigations under guidance of a specialist:
    • peripheral blood tests
    • bone marrow aspirate
    • trephine biopsy +/– lumbar puncture, imaging or tissue biopsy when extramedullary disease is suspected.

Specialist testing (including genetic testing): Every patient being considered for AML therapy should have samples taken for morphological assessment, cytogenetics, flow cytometry and molecular pathology.

Most genetic abnormalities in AML only occur in abnormal blood cells and are not related to genetic abnormalities that affect the whole body and/or are inherited. However, heritable genetic abnormalities

may be identified in a small number of patients.

Other pre-treatment investigations: Careful clinical and haematological assessment is required to identify patients in whom the start of chemotherapy could or should be delayed. The presence of an active infection at diagnosis is important to identify.

Treatment planning: Because of the urgency and complexity of treatment, every clinical haematology unit should have predefined peer-reviewed treatment models of care that have been endorsed by the multidisciplinary team.

Induction treatment is often required before a full MDM ratifies details of the ongoing management plan (which should include full details of the response assessment).

Research and clinical trials:

Participation in clinical trials, registries and tissue banking is considered a standard of care for patients with AML.

Communication

The lead clinician’s responsibilities include:

  • discussing a timeframe for diagnosis and treatment options with the patient and/or carer
  • explaining the role of the multidisciplinary team 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 (MDMs).

Checklist

Timeframe

Morphological assessment to identify APL should be conducted immediately and the result conveyed to the treating physician as soon as possible.

For all patients with AML, other results necessary for immediate management decisions should be available within 72 hours of the patient presenting.