STEP 3: Diagnosis, staging and treatment planning

Diagnosis and staging

Perform pre-treatment medical investigations on the day of presentation to the specialist cancer service.

The diagnostic laboratory investigations should be performed as follows.

Urgent pathway

For urgent cases, if it is safe to do so, a diagnostic bone marrow aspirate and lumbar puncture should be performed on the day of presentation. Urgent patients include those who present with hyperleukocytosis, tumour lysis syndrome, mediastinal mass and coagulopathies, and those with suspected acute promyelocytic leukaemia.

If there is a suspicion of acute promyelocytic leukaemia, urgent treatment with all-trans retinoic acid should be instigated immediately.

Standard pathway

The diagnostic bone marrow aspirates and lumbar puncture should be performed by the next business day. Clinical trial requirements, as well as the level of institutional resources, should also guide timings.

Measurable/minimal residual disease

The importance of this test for measuring the patient’s response to treatment cannot be overstated. (See the Optimal care pathway for CAYA leukaemia for principles for MRD in CAYA acute leukaemia subcategories.)

Genetic testing

Paired tumour/germline sequencing should be considered in some patients with a family history or clinical findings that suggest a possible cancer predisposition syndrome. Once a diagnosis is confirmed, a comprehensive family cancer history of at least three generations’ pedigree will help further identify patients and families with potential cancer predisposition or inherited syndromes.

Treatment planning

Immediate treatment is often required before a full multidisciplinary meeting (MDM) ratifies the plan. Multidisciplinary input is likely after treatment begins.

Research and clinical trials

Consider enrolment where available and appropriate. See the OCP resources appendix and relevant steps for clinical trial resources relevant to CAYA acute leukaemia.


The lead clinician’s1 responsibilities include:

  • discussing a timeframe for diagnosis and treatment options with the patient, family 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
  • discussing the effect of leukaemia treatment on future fertility and referral to a fertility specialist as required
  • communicating with the patient’s GP about the diagnosis, treatment plan and recommendations from MDMs.


  • Diagnosis has been confirmed
  • Performance status and comorbidities recorded
  • Patient discussed at MDM and decisions provided to the patient, family and/or carer
  • Clinical trial enrolment considered
  • Supportive care needs assessed and referrals to allied health services actioned as required
  • Consideration of future fertility consequences and referral to fertility specialist as required
  • Patient referred to support services (such as Camp Quality, Cancer Council, Canteen, Leukaemia Foundation and Redkite) as required
  • Treatment costs discussed with the patient, family and/ or carer as appropriate


Investigations should be completed immediately.

Prospective review at an MDM for all cases.

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.