STEP 2: Presentation, initial investigations and referral
This step outlines the process for the general practitioner to initiate the right investigations and refer to the appropriate specialist in a timely manner. The types of investigations the general practitioner undertakes will depend on many factors, including access to diagnostic tests, the availability of medical specialists and patient preferences.
About half of patients with CML are asymptomatic. CML is frequently diagnosed after blood tests are taken for unrelated reasons. Typical symptoms include fatigue, malaise, weight loss, sweats and symptoms related to an enlarged spleen.
Presenting signs and symptoms should be promptly assessed.
General practitioner examinations and investigations should include the following:
- a thorough history and examination should be taken, specifically looking for evidence of splenomegal.
- a full blood count will usually indicate the strong possibility of CML based on the increased numbers of white blood cells (WBC) and/or platelets and the WBC differential. A pathologist report on the blood test will usually raise the possibility of CML based on the blood count and blood film, but this may not always be the case. Very occasionally, CML can present with a high platelet count and a minimally raised WBC
- the diagnosis can be confirmed by a PCR test on the peripheral blood to detect the BCR-ABL1 transcript in patients with a blood picture consistent with CML. This may be a quantitative or qualitative test.
The general practitioner should conduct a full blood count and check the results within three days, or sooner if the patient is unwell.
It may take several days, or sometimes weeks, to get the PCR test result, but there is no need to wait for the result before organising referral to a haematologist for further investigation. The suspicion of CML is enough to justify a referral.
Any patient with symptoms suspicious of cml can be referred for specialist assessment as first line. If the diagnosis of cml is confirmed or the results are inconsistent or indeterminate, referral to a haematologist for ongoing management is warranted.
Patients should be enabled to make informed decisions about their choice of specialist and health service. General practitioners should make referrals in consultation with the patient after considering the clinical care needed, cost implications (see referral choices and informed financial consent on page 9), waiting periods, location and facilities, including discussing the patient’s preference for health care through the public or the private system.
Referral for suspected or diagnosed cml should include the following essential information to accurately triage and categorise the level of clinical urgency:
- important psychosocial history and relevant medical history
- family history, current symptoms, medications and allergies
- results of current clinical investigations (imaging and pathology reports)
- results of all prior relevant investigations
- notification if an interpreter service is
The following clinical prioritisation criteria are used to triage patients with cml.
According to the cml International Working Group guidelines, updated in 2018, cml is diagnosed when there are more than 5.0 × 109/L B lymphocytes in the peripheral blood for at least three months and clonality is confirmed by demonstrating immunoglobulin light-chain restriction on flow cytometry (Hallek et al. 2018). Lower levels of clonal B-cell lymphocytosis may suggest the related disorder known as monoclonal B-cell lymphocytosis and should also be referred to a specialist.
Referral to a specialist should take place once significant lymphocytosis and/or a leukaemic cell population is identified.
In most cases, cml is diagnosed incidentally based on minor peripheral blood lymphocytosis in patients who are either well or have minimal symptoms. In these typical cases, urgent referral and work-up are not required to prevent physical deterioration. However, the differential diagnosis of cml can be very stressful for patients, so a timely referral to enable clarity and reassurance is an important consideration.
It is also important to assess for uncommon but more medically urgent cases.
Cases that require prompt referral to a specialist within 72 hours are:
- severe/(symptomatic) thrombocytopenia or anaemia such as haemoglobin under 70 g/L or platelets under 50 × 109/L, or
- bulky (> 5 cm) or locally compressive
The specialist should then assess the patient within 72 hours, or sooner if medically urgent based on specific circumstances.
In more typical cases where referral is less urgent, it will be important for the general practitioner to provide reassurance and clearly explain the slow-growing nature of cml, noting that typically intervention is not needed for several years, and up to one-third of patients may never require treatment (Scarfò et al. 2016). This is in contrast to acute forms of leukaemia.
Many services will reject incomplete referrals, so it is important that referrals comply with all relevant health service criteria.
If access is via online referral, a lack of a hard copy should not delay referral.
The specialist should provide timely communication to the general practitioner about the consultation and should notify the general practitioner if the patient does not attend appointments.
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.
Non-urgent cases should ideally be seen by a specialist haematologist within two weeks. However, some cases may require immediate hospital admission. Patients with a possible CML diagnosis should be discussed with a haematologist to decide on the urgency of the referral.
Urgent admission to hospital for inpatient care, possibly including leukapheresis or plateletpheresis, should be considered for:
- patients with a WBC above 100
- patients with a platelet count below 50 or above 800
- men complaining of priapism (a persistent erection) or incipient priapism
- any features that suggest leukostasis – blurred vision, fainting, seizures, TIA-like events, any other unexplained neurological syndromes
- any other unexpected organ dysfunction or poorly controlled pain.
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 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 including fatigue, malaise and symptoms related to splenic enlargement
- encouragement and support to increase levels of exercise (Cormie et al. 2018; Hayes et al. 2019).
For more information refer to the National Institute for Health and Care Excellence 2015 guidelines, Suspected cancer: recognition and referral .
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
- supporting the patient while waiting for the specialist appointment (Cancer Council 13 11 20 and Leukaemia Foundation 1800 953 081 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.
