Tumour Markers

Last updated 31 May 2026 · Oncology clinical guideline

📋 Key Information Summary

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Tumour markers are biological substances — proteins, hormones, enzymes, or genetic material — measurable in blood, urine, or tissue that may indicate malignancy, disease burden, or treatment response.
Major categories include oncofetal antigens (AFP, CEA), carbohydrate antigens (CA-125, CA 19-9, CA 15-3), glycoproteins (PSA), hormones (β-hCG), enzymes (LDH, ALP), and molecular/genomic markers (ctDNA, MSI, PD-L1).
PSA remains the cornerstone of prostate cancer screening and monitoring but carries significant limitations due to false positives from benign prostatic hyperplasia and prostatitis.
CEA is used primarily for monitoring colorectal cancer post-surgery rather than as a diagnostic screen; rising CEA post-resection warrants investigation for recurrence.
AFP is elevated in hepatocellular carcinoma, non-seminomatous germ cell tumours, and normal pregnancy; serial monitoring is more informative than single values.
CA-125 is a key marker for ovarian cancer monitoring and response assessment, though it is elevated in many benign gynaecological and non-gynaecological conditions.
No tumour marker is sufficiently sensitive and specific for population-level cancer screening in asymptomatic individuals (except PSA in selected shared-decision contexts).
Serial measurements trending in one direction are far more clinically meaningful than single values; always compare against the patient's own baseline.
Tumour marker results must be interpreted in the full clinical context — including imaging, histopathology, and patient demographics — never in isolation.
Liquid biopsy and circulating tumour DNA (ctDNA) are emerging Australian-available tools for minimal residual disease detection and targeted therapy selection.
MBS item numbers exist for PSA, CEA, AFP, CA-125, β-hCG, and LDH; some molecular marker assays require specialist referral or are performed at tertiary centres only.
Aboriginal and Torres Strait Islander peoples have higher cancer mortality and later-stage diagnosis; equitable access to tumour marker testing and follow-up must be prioritised.

Introduction & Australian Epidemiology

Tumour markers are biological substances — proteins, hormones, enzymes, antigens, or nucleic acids — that can be measured in blood, urine, cerebrospinal fluid, or tissue. Their presence, concentration, or change over time may reflect the presence of a malignant neoplasm, disease burden, or response to anticancer therapy. While no single tumour marker is pathognomonic for any cancer, they serve as valuable adjuncts to imaging, clinical assessment, and histopathological diagnosis in oncology practice.

Cancer remains a leading cause of morbidity and mortality in Australia. According to the Australian Institute of Health and Welfare (AIHW), an estimated 162,000 new cancer cases were diagnosed in 2023, with over 50,000 cancer-related deaths annually. Prostate cancer, colorectal cancer, breast cancer, lung cancer, and melanoma collectively account for the majority of diagnoses. Hepatocellular carcinoma incidence is rising, driven in part by metabolic dysfunction-associated steatotic liver disease (MASLD). Ovarian cancer, while less common, carries a high case-fatality rate due to late-stage presentation.

In this context, tumour markers play defined roles across the cancer care continuum — from risk stratification and early detection in selected settings, through treatment response monitoring and recurrence surveillance, to prognostication and targeted therapy selection. Their use is governed by established guidelines from Cancer Council Australia, the Royal Australasian College of Physicians (RACP), and international bodies such as the American Society of Clinical Oncology (ASCO) and the European Society for Medical Oncology (ESMO).

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Critical principle: Tumour markers should never be used as standalone diagnostic tests. An elevated marker does not confirm cancer, and a normal value does not exclude it. All results require clinical correlation with imaging, histopathology, and patient history.

Tumour Markers clinical infographic — pathophysiology, clinical clues, diagnosis, imaging, and management — Tap or click image to enlarge — Tumour Markers: pathophysiology, clinical clues, diagnosis, imaging, and management.

Types of Tumour Markers

Tumour markers are broadly classified by their biochemical nature and clinical utility. Understanding the category of a marker aids in interpreting results and selecting appropriate clinical actions.

Oncofetal Antigens

Proteins normally expressed during foetal development that are re-expressed or overexpressed in certain malignancies. Examples include alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA). These tend to be organ-associated but not organ-specific.

Carbohydrate (Mucin) Antigens

High-molecular-weight glycoproteins shed by tumour cells into the circulation. This group includes CA-125 (ovarian), CA 19-9 (pancreatic/biliary), CA 15-3 (breast), and CA 27-29 (breast). They are frequently elevated in benign conditions, limiting their specificity.

Hormones

Ectopic or excessive production of hormones by tumours. Beta-human chorionic gonadotropin (β-hCG) is the classic example, elevated in gestational trophoblastic disease and germ cell tumours. Calcitonin (medullary thyroid carcinoma) and catecholamine metabolites (phaeochromocytoma) are other examples.

Enzymes

Lactate dehydrogenase (LDH), alkaline phosphatase (ALP), prostate-specific acid phosphatase, and neuron-specific enolase (NSE) fall into this category. LDH is a non-specific marker of tissue turnover and is prognostically significant in lymphoma, germ cell tumours, and melanoma.

Receptors & Surface Proteins

Tissue-based markers including HER2/neu (breast/gastric cancer), oestrogen receptor (ER) and progesterone receptor (PR) in breast cancer, and PD-L1 expression across multiple tumour types. These guide targeted therapy selection and are assessed immunohistochemically on biopsy specimens.

Molecular & Genomic Markers

Circulating tumour DNA (ctDNA), microsatellite instability (MSI) status, BRAF V600E, KRAS/NRAS mutations, EGFR mutations, and tumour mutational burden (TMB). These markers are increasingly used for treatment selection, minimal residual disease (MRD) monitoring, and prognosis. Liquid biopsy (ctDNA) is available through several Australian pathology providers.

Other Markers

S-100 protein (melanoma, neural tumours), immunoglobulins (multiple myeloma), beta-2 microglobulin (myeloma, lymphoma), and prostate-specific membrane antigen (PSMA) used in both serum assays and PET imaging (⁶⁸Ga-PSMA PET, now widely available in Australia).

Category	Examples	Primary Cancer Association
Oncofetal antigens	AFP, CEA	HCC, germ cell, colorectal
Carbohydrate antigens	CA-125, CA 19-9, CA 15-3	Ovarian, pancreatic, breast
Glycoproteins	PSA	Prostate
Hormones	β-hCG, calcitonin	Germ cell, gestational, medullary thyroid
Enzymes	LDH, ALP, NSE	Lymphoma, bone metastases, neuroendocrine
Molecular/genomic	ctDNA, MSI, BRAF, EGFR, HER2	Multiple — therapy selection

Common Markers — PSA, CEA, AFP, CA-125

Prostate-Specific Antigen (PSA)

PSA is a kallikrein-related serine protease produced by prostatic epithelial cells. It is the most widely used tumour marker in Australia, predominantly for prostate cancer detection, risk stratification, and post-treatment surveillance.

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PSA (Total)

Serum assay · Prostate cancer marker

Normal range 0–4.0 ng/mL (age-adjusted thresholds recommended)

Elevated in Prostate cancer, BPH, prostatitis, recent ejaculation, urinary retention, DRE

Key use Screening (shared decision), staging, post-radical prostatectomy surveillance

MBS availability ✔ MBS Item 66655

Age-specific reference ranges improve specificity: 0–2.5 ng/mL for men <50 years; 0–3.5 ng/mL (50–59); 0–4.5 ng/mL (60–69); 0–6.5 ng/mL (≥70). PSA density (PSA ÷ prostate volume on TRUS), PSA velocity, and free-to-total PSA ratio can improve diagnostic accuracy. A free:total PSA ratio <10% suggests a higher likelihood of malignancy; >25% favours benign disease.

Post-radical prostatectomy, PSA should fall to undetectable levels (<0.1 ng/mL). Any detectable or rising PSA indicates biochemical recurrence and warrants further investigation. Prostate Health Index (PHI) and 4Kscore are additional risk stratification tools available through specialist referral in Australia.

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Prostate Cancer Foundation of Australia & RACGP guidance: PSA-based screening should involve shared decision-making. A baseline PSA at age 40–50 can help stratify future risk. Digital rectal examination (DRE) remains complementary but should not delay PSA testing if the patient declines.

Carcinoembryonic Antigen (CEA)

CEA is a glycoprotein involved in cell adhesion, normally produced during foetal development. In adults, elevated CEA levels are most commonly associated with colorectal cancer (CRC), though elevations occur in pancreatic, gastric, lung, breast, and medullary thyroid cancers.

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CEA

Serum assay · Colorectal cancer marker

Normal range 0–5.0 ng/mL (non-smokers); 0–10 ng/mL (smokers)

Elevated in CRC, smoking, IBD, cirrhosis, pancreatitis, hypothyroidism

Key use Post-surgical CRC surveillance, treatment response monitoring

MBS availability ✔ MBS Item 66653

CEA is not recommended for CRC screening due to poor sensitivity for early-stage disease (only 5–10% of Dukes A/B tumours have elevated CEA). Its principal role is in post-operative surveillance: CEA should be measured every 3–6 months for at least 5 years following curative CRC resection. Rising CEA warrants CT imaging to evaluate recurrence before committing to second-look surgery. Smoking cessation should be confirmed, as chronic smoking elevates CEA independently.

Alpha-Fetoprotein (AFP)

AFP is a major plasma protein produced by the yolk sac and foetal liver. In adults, elevated AFP is associated with hepatocellular carcinoma (HCC), non-seminomatous germ cell tumours (NSGCT), and, rarely, gastric and pancreatic cancers. AFP is also physiologically elevated in pregnancy.

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AFP

Serum assay · HCC & germ cell tumour marker

Normal range 0–10 IU/mL (non-pregnant adults)

Elevated in HCC, NSGCT, pregnancy, hepatitis, cirrhosis

Key use HCC surveillance in high-risk patients, germ cell tumour monitoring

MBS availability ✔ MBS Item 66651

For HCC surveillance in high-risk patients (chronic hepatitis B, hepatitis C with advanced fibrosis, cirrhosis of any aetiology), Cancer Council Australia and the Gastroenterological Society of Australia (GESA) recommend 6-monthly AFP combined with liver ultrasound. AFP alone has a sensitivity of approximately 60–70% for HCC; combined with ultrasound, sensitivity rises to approximately 90%. In germ cell tumours, AFP (alongside β-hCG and LDH) is essential for staging, risk stratification (IGCCCG classification), and treatment monitoring. AFP half-life of approximately 5–7 days is used to assess chemotherapy response.

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Pregnancy and AFP: AFP is routinely measured as part of second-trimester maternal serum screening for neural tube defects and aneuploidy. Always confirm pregnancy status before interpreting an elevated AFP in women of reproductive age.

Cancer Antigen 125 (CA-125)

CA-125 is a high-molecular-weight glycoprotein encoded by the MUC16 gene. It is the most widely used serum marker for epithelial ovarian cancer (EOC), particularly high-grade serous histology. CA-125 is also elevated in endometriosis, pelvic inflammatory disease, menstruation, pregnancy, liver cirrhosis, and peritoneal disease.

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CA-125

Serum assay · Ovarian cancer marker

Normal range 0–35 U/mL

Elevated in Ovarian cancer, endometriosis, PID, menstruation, cirrhosis, ascites

Key use EOC monitoring, treatment response, recurrence detection

MBS availability ✔ MBS Item 66659

CA-125 is elevated in approximately 80% of advanced-stage EOC but only 50% of stage I disease, limiting its use as a standalone screening tool. The UK Collaborative Trial of Ovarian Cancer Screening (UKCTOCS) demonstrated that CA-125-based screening algorithms did not reduce ovarian cancer mortality. In Australia, CA-125 is not recommended for population screening in asymptomatic women.

Its established roles include: (1) assessment of adnexal masses using risk prediction models such as the Risk of Malignancy Index (RMI), which combines CA-125, menopausal status, and ultrasound score; (2) monitoring treatment response during chemotherapy — normalisation after 3 cycles predicts favourable outcome; (3) post-treatment surveillance with serial measurements every 2–4 months; and (4) distinguishing benign from malignant pleural/peritoneal effusions.

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Risk of Malignancy Index (RMI): RMI = CA-125 (U/mL) × ultrasound score (0–5) × menopausal status (1 = premenopausal, 3 = postmenopausal). RMI >200 warrants referral to a gynaecological oncologist per Australian guidelines.

Clinical Applications

Tumour markers serve distinct clinical functions across the cancer care continuum. Their utility varies significantly depending on the clinical scenario.

Screening & Early Detection

No tumour marker currently meets the criteria for population-level cancer screening in asymptomatic individuals (high sensitivity, high specificity, acceptable positive predictive value, demonstrated mortality reduction). PSA screening for prostate cancer is the most debated example; Australian guidelines endorse shared decision-making rather than population-based screening. AFP + ultrasound for HCC in high-risk groups (chronic hepatitis B/C, cirrhosis) is a recommended surveillance strategy. CA-125 is not recommended for ovarian cancer screening.

Diagnosis & Differential Diagnosis

Markers may support — but never confirm — a cancer diagnosis. Elevated AFP in a liver mass is highly suggestive of HCC. Elevated β-hCG in a testicular mass indicates a germ cell tumour component. Elevated PSA in a man with an abnormal DRE prompts prostate biopsy. However, no marker alone can establish a diagnosis; tissue confirmation remains the gold standard.

Prognosis & Risk Stratification

Several markers have independent prognostic value. LDH is incorporated into the International Germ Cell Cancer Collaborative Group (IGCCCG) prognostic classification for germ cell tumours. Pre-operative CEA level independently predicts CRC recurrence risk. PSA at diagnosis, Gleason score, and T-stage form the basis of prostate cancer risk stratification (D'Amico classification, NCCN risk groups). Beta-2 microglobulin and serum free light chain ratio are prognostic in multiple myeloma (ISS/R-ISS staging).

Treatment Response Monitoring

Serial marker measurement is one of the most clinically valuable applications. Key examples include:

Germ cell tumours: AFP and β-hCG half-life calculations during chemotherapy — failure to decline by expected half-life indicates chemoresistance and may prompt treatment intensification.
Ovarian cancer: CA-125 normalisation during first-line chemotherapy correlates with surgical complete response and improved PFS.
Colorectal cancer: CEA reduction following surgery or chemotherapy indicates treatment efficacy.
Prostate cancer: PSA decline ≥50% (PCWG3 criteria) is a standard response endpoint in metastatic castration-resistant prostate cancer (mCRPC) trials.

Post-Treatment Surveillance & Recurrence Detection

Regular marker testing in the post-treatment setting enables early detection of recurrence, potentially before radiological or symptomatic evidence. CEA monitoring post-CRC resection (every 3–6 months for 5 years) is standard of care. PSA post-radical prostatectomy or radiotherapy detects biochemical recurrence. Rising CA-125 post-treatment for ovarian cancer precedes clinical recurrence by 2–6 months in most patients.

Guiding Targeted Therapy Selection

Molecular markers increasingly direct therapy choice:

HER2 amplification: Trastuzumab, pertuzumab, T-DXd (breast and gastric cancer).
EGFR mutations: Osimertinib and other EGFR-TKIs in NSCLC.
BRAF V600E: Dabrafenib + trametinib in melanoma and other solid tumours.
MSI-H/dMMR: Pembrolizumab across tumour types (TGA-approved tissue-agnostic indication).
PD-L1 expression: Guides immunotherapy use in NSCLC, urothelial, and other cancers.
ALK/ROS1 rearrangements: Crizotinib, alectinib, lorlatinib in NSCLC.

Minimal Residual Disease (MRD) & Liquid Biopsy

Circulating tumour DNA (ctDNA) analysis is an emerging application in Australian oncology. Tumour-informed ctDNA assays (e.g., for CRC and lung cancer) can detect molecular residual disease after curative surgery with high sensitivity. Rising ctDNA post-resection predicts radiological relapse by weeks to months. Several Australian pathology providers offer ctDNA testing; MBS item availability is limited, and out-of-pocket costs apply in most settings. The DYNAMIC-II trial (Australian-led, published 2024) demonstrated ctDNA-guided adjuvant chemotherapy in stage II CRC reduced treatment without compromising recurrence-free survival.

Clinical Scenario	Primary Marker(s)	Recommended Action
CRC post-surgical surveillance	CEA	Every 3–6 months × 5 years; rising → CT
Prostate cancer — active surveillance	PSA	Every 3–6 months; rise triggers MRI/biopsy
HCC surveillance (high-risk)	AFP + liver USS	Every 6 months
Ovarian cancer — chemo response	CA-125	Every cycle; normalisation = good response
Germ cell tumour — chemo response	AFP, β-hCG, LDH	Half-life monitoring; non-decline = poor response
NSCLC — EGFR therapy selection	ctDNA / tissue EGFR	Mutation-positive → osimertinib

Limitations & Interpretation

Tumour marker interpretation is fraught with potential pitfalls. Clinicians must understand the inherent limitations to avoid inappropriate clinical decisions.

Lack of Cancer Specificity

Most tumour markers are not unique to malignant cells. PSA is elevated in benign prostatic hyperplasia (BPH) and prostatitis. CA-125 rises with endometriosis, menstruation, and cirrhosis. CEA is elevated by smoking and inflammatory bowel disease. An elevated marker alone should never prompt a cancer diagnosis or invasive investigation without supporting clinical context.

Insufficient Sensitivity for Early-Stage Disease

The majority of circulating tumour markers are produced in greater quantities by larger, more advanced tumours. CA-125 is elevated in only ~50% of stage I ovarian cancers. CEA is elevated in <10% of Dukes A colorectal cancers. This limits their utility in early detection and underscores the need for complementary diagnostic modalities (imaging, endoscopy, biopsy).

Variability & Assay Differences

Tumour marker values can vary between laboratories due to differences in assay platforms, antibodies, and calibrators. When monitoring serial values, it is essential to use the same laboratory and assay method. Changes of <20–25% may reflect assay variability rather than true biological change. Results should always be compared against the laboratory's own reference range.

Lead-Time Bias

Detecting a rising tumour marker before clinical recurrence does not automatically translate to improved survival. Lead-time bias — the apparent prolongation of survival from earlier detection without true benefit — must be considered when interpreting surveillance marker trends. Only marker-guided interventions that demonstrably improve outcomes (e.g., surgical resection of oligometastatic recurrence detected by rising CEA) confer genuine benefit.

Hook Effect

In sandwich immunoassays, extremely high analyte concentrations can saturate both capture and detection antibodies, paradoxically yielding falsely low results. This is clinically relevant for β-hCG in gestational trophoblastic disease and large-volume germ cell tumours. If a result is unexpectedly low despite strong clinical suspicion, the laboratory should be asked to repeat the test with sample dilution.

Interfering Substances

Heterophilic antibodies (e.g., human anti-mouse antibodies from prior monoclonal antibody therapy) can cause false-positive results in immunoassays. Biotin supplements (>5 mg/day) can interfere with streptavidin-based assays, affecting results for several markers. Haemolysis, lipaemia, and icterus may also impact certain assays. Clinical correlation and repeat testing with a different platform can resolve discrepant results.

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Never make clinical decisions based on a single tumour marker value. Confirm abnormal results with repeat testing, correlate with clinical findings and imaging, and discuss with the treating oncology team before initiating investigation or treatment changes. A rising trend over 3+ values is far more informative than any single reading.

Common Pitfalls — Quick Reference

Caution

Benign Elevations

PSA ↑ in BPH/prostatitis; CEA ↑ in smokers; CA-125 ↑ in endometriosis, menstruation; AFP ↑ in pregnancy, hepatitis.

Action: Confirm cause, repeat in 4–6 weeks, consider benign aetiology.

Moderate

Assay Variability / Hook Effect

Serial results from different labs are not comparable. Very high β-hCG may show falsely low levels (hook effect).

Action: Use same lab for serial monitoring. Request dilutional repeat if clinical discrepancy.

Severe

Misdiagnosis / Overtreatment

Acting on a single elevated marker without clinical context may lead to unnecessary invasive procedures, patient anxiety, and harm.

Action: Always correlate with imaging, histology, and clinical assessment. Multidisciplinary discussion.

Optimal Monitoring Intervals

Every 3 months

Post-curative CRC surgery (CEA) for first 2 years; prostate cancer active surveillance (PSA).

Every 6 months

HCC surveillance in at-risk patients (AFP + USS); post-CRC surgery years 3–5; post-ovarian cancer treatment.

Every cycle

During active chemotherapy for germ cell tumours (AFP, β-hCG, LDH); ovarian cancer (CA-125).

Annually

PSA post-radical prostatectomy (if undetectable) or post-radiotherapy (nadir + 2 ng/mL = biochemical failure).

Investigations & Australian Laboratory Availability

All commonly used serum tumour markers are available through major Australian pathology networks (Sullivan Nicolaides Pathology, Douglass Hanly Moir Pathology, Laverty Pathology, Western Diagnostic Pathology, and public hospital laboratories). Molecular and genomic testing availability varies by state and tumour type.

Widely Available

PSA (Total & Free)

All pathology labs. MBS Item 66655. Bulk-billed. Turnaround: 1–2 days.

Widely Available

CEA

All pathology labs. MBS Item 66653. Bulk-billed. Turnaround: 1–2 days.

Widely Available

AFP

All pathology labs. MBS Item 66651. Bulk-billed. Turnaround: 1–2 days.

Widely Available

CA-125

All pathology labs. MBS Item 66659. Bulk-billed. Turnaround: 1–2 days.

Widely Available

β-hCG

All pathology labs. MBS Item 66665. Bulk-billed. Turnaround: same day.

Widely Available

LDH

All pathology labs. MBS Item 66500. Bulk-billed. Turnaround: same day.

Widely Available

CA 19-9

Most pathology labs. MBS Item 66657. Bulk-billed. Turnaround: 1–3 days.

Widely Available

CA 15-3

Most pathology labs. MBS Item 66656. Bulk-billed. Turnaround: 1–3 days.

Specialist / Referral

ctDNA / Liquid Biopsy

Available via specialist referral — private labs (e.g., Genomic Diagnostics, Virtus, Sonic Genetics). Limited MBS coverage; out-of-pocket costs typical (0–

,500). Turnaround: 7–14 days.

Specialist / Referral

MSI/MMR, TMB, PD-L1, EGFR, BRAF, ALK, HER2

Tissue-based molecular testing ordered by oncologist. MBS items available for EGFR (Item 73307), BRAF (Item 73316), MSI (Item 73324). Public and private pathology networks.

Specialist / Referral

Prostate Health Index (PHI)

Specialist-ordered. Available at select pathology providers. Not bulk-billed; ~–0 out-of-pocket.

Special Populations

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Pregnancy

AFP: Physiologically elevated in pregnancy (peaks at ~30 weeks). Do not interpret elevated AFP as HCC or germ cell tumour without confirming non-pregnant status.

β-hCG: Always elevated in normal pregnancy. Serial quantitative β-hCG used in trophoblastic disease management. Gestational reference ranges apply.

CA-125: Mildly elevated in first trimester; use with caution.

Key principle: Always check β-hCG before interpreting AFP or CA-125 in women of reproductive age.

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Paediatrics

AFP: Normal neonatal AFP is vastly higher than adult levels (up to 50,000+ ng/mL at birth), declining to adult ranges by 6–12 months. Age-adjusted reference ranges are essential.

NSE, LDH, urine VMA/HVA: Used in neuroblastoma surveillance and monitoring.

β-hCG, AFP: Standard for paediatric germ cell tumour staging (sacrococcygeal, testicular, mediastinal).

Caution: Paediatric tumour marker reference ranges differ significantly from adult ranges. Always use paediatric-specific ranges provided by the testing laboratory.

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Elderly

PSA: Age-specific ranges recommended; higher thresholds for men ≥70 (up to 6.5 ng/mL). Over-diagnosis of clinically insignificant prostate cancer is a significant concern in elderly men with limited life expectancy.

CEA: Mildly elevated baseline values may occur with age; interpret trends rather than single values.

Key principle: Consider life expectancy and comorbidities before acting on elevated tumour marker results. Avoid over-investigation in patients with limited prognosis.

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Renal Impairment

CA-125, β2-microglobulin: Elevated in chronic kidney disease due to reduced clearance. Interpret with caution in CKD stages 4–5 and dialysis patients.

PSA, CEA, AFP: Generally not significantly affected by renal impairment; can be used with standard reference ranges.

Key principle: Renal impairment may cause false-positive elevations of some markers. Document eGFR when interpreting results.

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Hepatic Impairment

AFP: Elevated in chronic hepatitis and cirrhosis (regenerative hepatocytes produce AFP). Levels >400 ng/mL in the context of a liver mass are highly suggestive of HCC.

CA-125: Elevated in cirrhosis with ascites; not reliable for ovarian cancer detection in this setting.

CEA: Mildly elevated in some chronic liver diseases.

Key principle: Chronic liver disease is a major confounder for AFP and CA-125 interpretation. Use dynamic contrast-enhanced imaging (CT/MRI) as the primary diagnostic modality.

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Immunocompromised

EBV DNA (viral load): Used to monitor post-transplant lymphoproliferative disorder (PTLD) in solid organ and haematopoietic stem cell transplant recipients.

HHV-8: Monitoring in Kaposi sarcoma, particularly in HIV-associated settings.

Standard markers: PSA, CEA, AFP, CA-125 can be used; however, infection-related elevations (e.g., CMV colitis causing CEA rise) should be considered.

Key principle: In immunocompromised patients, concurrent infections may elevate non-specific tumour markers. Correlate with infection workup and imaging.

Aboriginal and Torres Strait Islander Health Considerations

Aboriginal and Torres Strait Islander Health

Aboriginal and Torres Strait Islander peoples experience a disproportionate cancer burden compared to non-Indigenous Australians. According to AIHW data, cancer is the third leading cause of death among Indigenous Australians, with mortality rates 1.4 times higher than the non-Indigenous population. Cancers are frequently diagnosed at a later stage, contributing to poorer outcomes. Liver cancer (HCC), lung cancer, cervical cancer, and head and neck cancers are among those with the greatest disparity.

Key Considerations for Tumour Marker Use

HCC Surveillance

Chronic hepatitis B prevalence is 1.5–4% in Aboriginal and Torres Strait Islander communities (vs <1% non-Indigenous). AFP + 6-monthly liver ultrasound surveillance is critical but access to regular follow-up is limited in remote communities. Ensure culturally safe referral pathways to hepatology services.

Cervical & Ovarian Cancer

Higher rates of cervical cancer; HPV vaccination and screening are priorities. CA-125 interpretation must account for higher rates of pelvic inflammatory disease and chronic infections that may cause false-positive elevations.

Prostate Cancer

PSA testing rates are lower in Indigenous men. Barriers include reduced access to GP services, cultural factors around male health discussions, and fewer prostate biopsies performed in remote areas.

Health System Barriers

Geographic isolation limits access to pathology services and specialist follow-up. Turnaround times for tumour marker results are longer in remote areas. Patient transport for confirmatory investigations (biopsy, CT, MRI) may require retrieval services.

Cultural Safety

Ensure Aboriginal Health Workers and Liaison Officers are involved in communicating tumour marker results and their implications. Respect kinship and community communication preferences. Use culturally appropriate educational materials. Avoid shame-based framing of diagnoses.

Data Linkage & Follow-up

Register patients with Cancer Australia's National Cancer Screening Register. Utilise Closing the Gap PBS co-payment measures to reduce medication costs. Coordinate with Aboriginal Community Controlled Health Organisations (ACCHOs) for longitudinal care.

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Best practice: Partner with local Aboriginal Health Workers, use Closing the Gap health assessments (MBS Item 715), and ensure clear follow-up plans are communicated to both the patient and their primary care team. Early engagement with telehealth oncology services can bridge the access gap for remote communities.

📚 References

1. Australian Institute of Health and Welfare. Cancer data in Australia 2023. Canberra: AIHW; 2023. Available from: https://www.aihw.gov.au/reports/cancer/cancer-data-in-australia
2. Cancer Council Australia. Clinical practice guidelines for the management of colorectal cancer. 4th ed. Sydney: Cancer Council Australia; 2023.
3. Duff J, Engel A, Valentine D, et al. Prostate Cancer Foundation of Australia / Royal Australian College of General Practitioners. Prostate cancer screening policy. Sydney; 2022.
4. Gastroenterological Society of Australia (GESA). Clinical guidelines for hepatocellular carcinoma surveillance. Melbourne: GESA; 2023.
5. Duffy MJ, Lamerz R, Haglund C, et al. Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European Group on Tumor Markers 2014 guidelines update. Int J Cancer. 2014;134(11):2513–2522.
6. Sölétormos G, Duffy MJ, Hayes DF, et al. Design of tumor biomarker monitoring trials: a proposal by the European Group on Tumor Markers. Clin Chem. 2013;59(1):52–59.
7. Cancer Council Australia. National framework for gynaemic cancer services. Sydney: Cancer Council Australia; 2021.
8. Tie J, Cohen JD, Lahouel K, et al. Circulating tumor DNA analysis guiding adjuvant treatment in stage II colon cancer. N Engl J Med. 2022;386(24):2261–2272. (DYNAMIC Trial)
9. Tie J, Cohen JD, Lo SN, et al. Recurrence surveillance in stage II–III colorectal cancer using circulating tumour DNA (DYNAMIC-II). Nat Med. 2024. doi:10.1038/s41591-024-03009-2.
10. Australian Institute of Health and Welfare. Aboriginal and Torres Strait Islander health performance framework 2023 summary report. Canberra: AIHW; 2023.
11. Conroy T, Desseigne F, Ychou M, et al. FOLFIRINOX versus gemcitabine for metastatic pancreatic cancer. N Engl J Med. 2011;364(19):1817–1825. (CA 19-9 response data)
12. National Health and Medical Research Council. National statement on ethical conduct in human research. Canberra: NHMRC; 2023 (Updated).
13. Cancer Australia. A national cancer control framework and strategy for Australia. Surry Hills: Cancer Australia; 2022.
14. NHS Cancer Screening Programmes. United Kingdom Collaborative Trial of Ovarian Cancer Screening (UKCTOCS). Lancet. 2021;397(10270):218–228.
15. Australian Government Department of Health. Medical Benefits Schedule — Pathology items. Canberra: DoH; 2024. Available from: http://www.mbsonline.gov.au

for PBS-listed medicines at participating pharmacies.

Cultural safety

Engagement with Aboriginal Community Controlled Health Organisations (ACCHOs) is essential. Cultural safety training for non-Indigenous clinicians, use of Aboriginal Health Workers and Liaison Officers, and incorporation of traditional healing practices alongside Western medicine improve treatment adherence and outcomes. Avoidance of eye contact, respect for gender-sensitive examination practices, and understanding of sorry business protocols are critical elements of culturally safe care.

Medication adherence

Complex DMARD regimens with frequent monitoring requirements present adherence challenges. Long-acting depot injections (e.g., methotrexate SC) may improve adherence compared to oral regimens. Community pharmacy partnerships through the Indigenous Pharmacy Programmes improve medication management.

Specific conditions

Rheumatic heart disease (RHD) requires secondary prophylaxis with benzathine penicillin G (BPG) 1.2 MU IM every 3–4 weeks for a minimum of 10 years or until age 21 (whichever is longer). RHD registers (e.g., NT RHD Register) facilitate recall and follow-up. The Australian RHD Endgame Strategy targets elimination by 2031.

Referral pathways

Referral through ACCHOs and Aboriginal Hospital Liaison Officers (AHLOs) improves engagement. The Specialist Outreach Assistance Programme provides funded specialist visits to remote communities. NT, WA, and QLD have specific rheumatology outreach programmes targeting Indigenous communities.

📚 References

1. Australian Institute of Health and Welfare (AIHW). Autoimmune disease in Australia. Cat. no. PHE 312. Canberra: AIHW; 2023.
2. Fraenkel L, Bathon JM, England BR, et al. 2021 American College of Rheumatology guideline for the treatment of rheumatoid arthritis. Arthritis Care Res. 2021;73(7):924–939.
3. Fanouriakis A, Kostopoulou M, Alber K, et al. 2019 update of the EULAR recommendations for the management of systemic lupus erythematosus. Ann Rheum Dis. 2019;78(6):736–745.
4. Chung SA, Langford CA, Maz M, et al. 2021 American College of Rheumatology/Vasculitis Foundation guideline for the management of antineutrophil cytoplasmic antibody-associated vasculitis. Arthritis Care Res. 2021;73(11):1583–1599.
5. Smolen JS, Landewé RBM, Bijlsma JWJ, et al. EULAR recommendations for the management of rheumatoid arthritis with synthetic and biological disease-modifying antirheumatic drugs: 2022 update. Ann Rheum Dis. 2023;82(1):3–18.
6. Australian Technical Advisory Group on Immunisation (ATAGI). Australian Immunisation Handbook. Australian Government Department of Health; 2024. Available from: immunisationhandbook.health.gov.au.
7. Rheumatic Heart Disease Australia (RHDAustralia). The 2020 Australian guideline for prevention, diagnosis, and management of acute rheumatic fever and rheumatic heart disease. 3rd ed. Darwin: Menzies School of Health Research; 2020.
8. Pharmaceutical Benefits Scheme (PBS). PBS Schedule. Australian Government Department of Health. Available from: pbs.gov.au. Accessed 2024.
9. Agarwal S, Cunnington J, Nossent J. Autoimmune disease in Indigenous Australians: a systematic review. Int J Rheum Dis. 2021;24(12):1487–1498.
10. Pisetsky DS. Antinuclear antibody testing — misunderstood or misused? Clin Immunol. 2023;255:109717.
11. Bertsias GK, Tektonidou M, Amoura Z, et al. Joint European League Against Rheumatism and European Renal Association–European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis. Ann Rheum Dis. 2012;71(11):1771–1782.
12. Ledingham J, Deighton C; British Society for Rheumatology Standards, Audit and Guidelines Working Group. Update on the British Society for Rheumatology guidelines for prescribing TNFα blockers in adults with rheumatoid arthritis. Rheumatology. 2005;44(2):155–158.
13. National Health and Medical Research Council (NHMRC). National statement on ethical conduct in human research. Canberra: NHMRC; 2023 (updated).

for PBS-listed medicines at participating pharmacies.

Cultural safety

Medication adherence

Specific conditions

Referral pathways

📚 References

1. Australian Institute of Health and Welfare (AIHW). Autoimmune disease in Australia. Cat. no. PHE 312. Canberra: AIHW; 2023.
2. Fraenkel L, Bathon JM, England BR, et al. 2021 American College of Rheumatology guideline for the treatment of rheumatoid arthritis. Arthritis Care Res. 2021;73(7):924–939.
3. Fanouriakis A, Kostopoulou M, Alber K, et al. 2019 update of the EULAR recommendations for the management of systemic lupus erythematosus. Ann Rheum Dis. 2019;78(6):736–745.
4. Chung SA, Langford CA, Maz M, et al. 2021 American College of Rheumatology/Vasculitis Foundation guideline for the management of antineutrophil cytoplasmic antibody-associated vasculitis. Arthritis Care Res. 2021;73(11):1583–1599.
5. Smolen JS, Landewé RBM, Bijlsma JWJ, et al. EULAR recommendations for the management of rheumatoid arthritis with synthetic and biological disease-modifying antirheumatic drugs: 2022 update. Ann Rheum Dis. 2023;82(1):3–18.
6. Australian Technical Advisory Group on Immunisation (ATAGI). Australian Immunisation Handbook. Australian Government Department of Health; 2024. Available from: immunisationhandbook.health.gov.au.
7. Rheumatic Heart Disease Australia (RHDAustralia). The 2020 Australian guideline for prevention, diagnosis, and management of acute rheumatic fever and rheumatic heart disease. 3rd ed. Darwin: Menzies School of Health Research; 2020.
8. Pharmaceutical Benefits Scheme (PBS). PBS Schedule. Australian Government Department of Health. Available from: pbs.gov.au. Accessed 2024.
9. Agarwal S, Cunnington J, Nossent J. Autoimmune disease in Indigenous Australians: a systematic review. Int J Rheum Dis. 2021;24(12):1487–1498.
10. Pisetsky DS. Antinuclear antibody testing — misunderstood or misused? Clin Immunol. 2023;255:109717.
11. Bertsias GK, Tektonidou M, Amoura Z, et al. Joint European League Against Rheumatism and European Renal Association–European Dialysis and Transplant Association (EULAR/ERA-EDTA) recommendations for the management of adult and paediatric lupus nephritis. Ann Rheum Dis. 2012;71(11):1771–1782.
12. Ledingham J, Deighton C; British Society for Rheumatology Standards, Audit and Guidelines Working Group. Update on the British Society for Rheumatology guidelines for prescribing TNFα blockers in adults with rheumatoid arthritis. Rheumatology. 2005;44(2):155–158.
13. National Health and Medical Research Council (NHMRC). National statement on ethical conduct in human research. Canberra: NHMRC; 2023 (updated).