TEST CODE: 008859

DIAGNOSTIC TEST FOR: KIDS CANCER TARGETED THERAPY ASSAY

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Kids Cancer Targeted Therapy Assay

Cancer in children and young adults is different to cancers in adults. The types of cancers and the driving genetic mutations behind the cancers differ to those typically seen in adults. The Kids Cancer Targeted Therapy Assay has been developed by leading researchers and paediatric oncologists to comprehensively target the genetic drivers of childhood cancers. Understanding the genetic mutations behind a child’s cancer is the key to an accurate diagnosis. Having an accurate diagnosis prior to starting treatment allows for a targeted and personalised treatment specific to your child’s cancer to be used right from the start of their diagnosis, helping to optimise treatment outcomes. 

Childhood Cancers

The most common types of cancer typically seen in children are different from those seen in adults. The most common types of childhood cancer include:

Leukaemia – a cancer of the blood which starts in the bone marrow and spreads into the blood stream. There are three types of childhood Leukaemia:

– Acute lymphoblastic leukaemia (ALL)

– Acute myeloid leukaemia (AML)

– Chronic myeloid leukaemia (CML which is extremely rare)

Lymphoma – a cancer that begins in cells called lymphocytes. It typically affects lymph nodes and other lymph tissue.

Brain and Central Nervous System (CNS)

Tumours – There are two main types of tumours that affect children, Gliomas and Medulloblastomas. These tumours can be primary (the tumours started growing in the brain) or secondary, which happen when cancer cells from other parts of the body spread to the brain.

Bone Cancers – Osteosarcoma and Ewing sarcoma are the most common cancers affecting bone tissues in children.

Rhabdomyosarcoma – a type of soft tissue sarcoma, which can develop in the muscle or fibrosis tissue anywhere in the body.

Neuroblastoma – a cancer that develops from nerve tissue that is normally present around the chest, abdomen and adrenal glands (found above the kidneys).

Retinoblastoma – a rare type of eye cancer that affects the retina.

Wilm’s tumours – also sometimes called nephroblastomas, these are a type of cancer that affects the kidneys.

Germ cell tumours – these tumours develop from the cells that produce eggs and sperm.

Leukaemia is the most common type of cancer diagnosed among Australian children, accounting for around one third of all cases, followed by tumours of the central nervous system (mainly brain tumours) which were responsible for 25% of all diagnoses and lymphomas which accounted for 10%.

Childhood Cancer Survival Rates

There have been considerable improvements in survival rates for children diagnosed with leukaemia, lymphomas, neuroblastoma and malignant bone tumours. However, there has been little or no improvement in survival for several other types of childhood cancer over recent decades, particularly hepatic (liver) tumours. This highlights the need for effective diagnostic procedures and targeted treatments for children cancer to improve treatment outcomes for all childhood cancer patients, particularly for those with cancer types that have seen little to no improvement in survival rates.

What is the Kids Cancer Targeted Therapy Assay?

The Kids Cancer Targeted Therapy Assay is the first test designed for targeting multiple forms of childhood cancer. It is a specifically designed, targeted but comprehensive panel allowing detection of genetic mutations in a range of childhood cancers

The genes covered on this assay are commonly implicated in a range of childhood cancers, including leukemias, brain tumours, sarcomas, and embryonal tumours, including neuroblastoma, retinoblastoma, Wilm’s tumour, and liver tumours.

How could the Kids Cancer Targeted Therapy Assay benefit my child?

Cancer is a complex disease, caused by a wide range of genetic mutations that can be present in many combinations. Each tumour has a unique genetic makeup. Genomic testing can be used to analyse the DNA of a tumour and may identify the genetic mutations that are unique to that cancer. Paediatric cancers, such as soft-tissue tumours, are often difficult to diagnose by conventional diagnostic methods, such as immunohistochemistry, leading to an incomplete or inaccurate diagnosis. Genomic testing provides a powerful diagnostic tool, and every cancer patient deserves an accurate diagnosis.

Investing in genomic testing, to obtain a complete diagnosis and to select appropriate, targeted therapy is a small cost compared with the money and time that may be wasted on ill-chosen therapies. By identifying potential targetable mutations early on in your child’s diagnosis, targeted therapies can be used where they are most likely to be effective. Genomic testing provides a personalised approach to cancer treatment, giving your child their best chance of survival. Clinical trials of over 70,000 patients have shown that personalised therapy, based on genomic profiling of tumours, is the most effective way to improve outcome, with higher response rates, longer progression free and overall survival, and fewer deaths related to toxic effects across cancers. Depending on the type of testing done, a comprehensive genomic analysis may provide information on potential therapeutics, development of resistance to treatments, prognosis and disease tracking, and may provide access to clinical trials and new treatments.

The Power of Genomic Testing in Childhood Cancers

The Kids Cancer Targeted Therapy Assay may identify the specific mutations unique to your child’s cancer. Once we have identified the mutations, we may find targeted solutions to help treat their cancer. Targeted therapy has been identified for tumours with NTRK gene fusions that are found in a small number of paediatric tumours and there are a number of gene mutations that occur in neuroblastoma, embryonal tumours, Langerhans cell histiocytosis, Ewing sarcoma, sarcomas and leukaemia that have potential targeted therapies. A number of paediatric precision oncology trials are underway and this will improve our understanding of the clinical impact of targeted therapies. Genomic testing can also help identify missed or unexpected genetic mutations that were not identified by conventional testing methods, which may also highlight potential matched targeted therapies 

What does the Kids Cancer Targeted Therapy Assay cover?

This assay covers genes commonly implicated in a range of childhood cancer types, including leukemias, brain tumours, sarcomas, neuroblastomas, retinoblastomas, Wilm’s tumour, and liver tumours. The Kids Cancer Targeted Therapy Assay includes a large 97-gene translocation/fusion panel (>1700 fusion isophorme variants), as gene fusions and copy number alterations are more common in childhood cancers compared to adult cancers. The Assay also includes an 82-DNA target panel with comprehensive coverage of all relevant mutations, 44 targets with full exon coverage, specifically tumour suppressor genes, and 24 CNV targets. Although childhood cancers tend to harbor fewer somatic DNA single nucleotide variants (SNVs), multinucleotide variants (MNVs), and insertions/deletions (InDels), several key driver DNA mutations have been described in different paediatric tumours, including SMARCB1 mutations in rhabdoid tumours, ALK point mutations in neuroblastomas, and BRAF point mutations in paediatric gliomas. The genes are all covered by the Kids Cancer Targeted Therapy Assay.

Sample Requirements

The test can be performed on blood, bone marrow, or tissue samples from the most recent biopsy. 

*Please contact Genomed if your most recent biopsy was more than one year ago or if no biopsy is available, to discuss testing options. In most cases, previous biopsies can be used, and a new biopsy is usually not required 

Ready to take control of your treatment plan?

Genomed aims to educate patients and their families on their cancer types and empower them with the knowledge to take control of their treatment plans. As each patient’s case is unique, there is no “one size fits all” when it comes to testing. We encourage you to contact Genomed, and we can work with you and your oncologist/specialist, to determine what tests would benefit you.