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.