STEP 2: Presentation, initial investigations and referral

Step 3 outlines the process for confirming the diagnosis of CAYA acute leukaemia and for planning subsequent treatment. The guiding principle is that interaction between appropriate multidisciplinary team members should determine the treatment plan.

All CAYA with acute leukaemia should be managed by a specialist cancer service.

Urgent pathway

Some patients may present with oncological emergencies including, but not limited to, hyperleucocytosis, tumour lysis syndrome, mediastinal mass, sepsis and coagulopathies.

For these patients, urgent, immediate emergency assessment and diagnostic investigations need to be completed to allow early commencement of therapy. These patients may require initial intensive care support during their inpatient admission to a tertiary oncology/haematology centre.

Standard pathway

For clinically stable patients with a new diagnosis of acute leukaemia, the diagnostic interventions can be planned for the next business day. These patients still will require inpatient admission to a tertiary oncology/haematology centre.

The clinical manifestations of acute leukaemia depend on the level of leukaemic infiltration into the marrow and extramedullary sites at the time of presentation, resulting in a wide spectrum of signs and symptoms. It is important to recognise parental and carer concern and the need to escalate investigations, particularly after repeated visits to healthcare professionals.

The following signs and symptoms may warrant consideration of a full blood count and peripheral blood film examination:

  • persistent unexplained fever
  • diffuse bone pain with no obvious trauma and/or refusal to walk in children
  • generalised lymphadenopathy
  • hepatosplenomegaly
  • pallor
  • unexplained bruising, unexplained bleeding or petechiae
  • extreme fatigue
  • recurrent

Children can sometimes have only mild symptoms, so the medical practitioner should be alert to the diagnosis, particularly when there is a constellation of the symptoms/signs as described above.

Rarely, leukaemia can manifest itself without an abnormal full blood count. Signs and symptoms include testicular swelling in males (testicular involvement with CAYA acute leukaemia) or isolated neurological symptoms such as cranial nerve palsies/headaches (central nervous system [CNS] CAYA leukaemia).

Although rare, general practitioners should be mindful of CAYA who present with the symptoms described above. It is important that there is a thorough clinical examination because the finding of significant lymphadenopathy or hepatosplenomegaly with petechiae/significant pallor and bruising will be an alert to the potential diagnosis.

A full blood count and blood film should be performed immediately.

If the patient is unwell with fever, bleeding, sepsis, respiratory distress (particularly orthopnoea and dyspnoea) or signs of hyperviscosity (respiratory distress or neurological signs) they should be referred immediately to a specialist centre, without waiting for laboratory blood results.

If CAYA acute leukaemia is suspected by pathology laboratories (e.g. high white cell count, pancytopenia or presence of blasts on the blood film), the pathology laboratory should contact the general practitioner by telephone immediately.

If the CAYA acute leukaemia diagnosis is suspected but not confirmed or the results are inconsistent or indeterminate, the general practitioner must immediately refer the patient via telephone to an appropriate specialist (paediatric or adult haematologist/oncologist) to make the diagnosis.

CAYA with a confirmed or a suspected laboratory diagnosis of acute leukaemia should be referred on the same day to a specialist service and have an urgent assessment within 24 hours, unless advised otherwise by a specialist.

The ideal referral should have the following minimum documentation, but collating this information should never delay the telephone referral:

  • the patient and their family’s demographics including language barriers and need for an interpreter, relevant medical history, medications and allergies
  • results of clinical investigations (including imaging and pathology reports)
  • recognised significant psychosocial issues or other barriers to accessing care
  • a written summary of what the patient, carer and family understand to be the reason for referral to local or more specialised service.

Aboriginal and Torres Strait Islander patients will need a culturally appropriate referral. To view the optimal care pathway for Aboriginal and Torres Strait Islander people and the corresponding quick reference guide, visit the Cancer Australia website. Download the consumer resources – Checking for cancer and Cancer from the Cancer Australia website.

The patient’s general practitioner should consider an individualised supportive care assessment where appropriate to identify the needs of an individual, their carer and family. Refer to appropriate support services as required. See validated screening tools mentioned in Principle 4 ‘Supportive care’.

A number of specific needs may arise for patients and carers at this time:

  • assistance for dealing with the emotional distress and/or anger of dealing with a potential cancer diagnosis, anxiety/depression, interpersonal problems and adjustment difficulties
  • management of physical symptoms as needed and advised by the specialist
  • encouragement and support to increase levels of exercise (Cormie et 2018; Hayes et al. 2019).

For additional information on supportive care and needs that may arise for different population groups, see Appendices A, B and C.

The general practitioner is responsible for:

  • providing patients with information that clearly describes to whom they are being referred, the reason for referral and the expected timeframes for appointments
  • requesting that patients notify them if the specialist has not been in contact within the expected timeframe
  • considering referral options for patients living rurally or remotely without delaying the referral
  • supporting patients and carers while waiting for the specialist appointment and/or diagnosis confirmation (Camp Quality 1300 662 267, Cancer Council 13 11 20, Canteen 1800 835 932, Leukaemia Foundation 1800 953 081 and Redkite 1800 733 548 are available to act as a point of information and reassurance during the anxious period of awaiting further diagnostic information).

More information

Refer to Principle 6 ‘Communication’ for communication skills training programs and resources.