Special Tests - Molecular profiling
The "new frontier" of tests to try and identify the source of the cancer, in someone with metastatic cancer, is gene expression profiling or molecular profiling. Molecular profiling of tumors of unknown origin can be useful in validating results and/or overcoming the limitations of immunohistochemistry. There are different techniques employed by different companies (for more information on molecular profiling see our section Research & Resources), but in essence, this approach aims to identify the primary tumour by “profiling” the genes from a tissue sample (see biopsy in the section on Hospital diagnosis) and matching them to a database of known primaries.
The findings from such tests add additional information to the conventional pathology work-up. The results may help reduce a patient’s anxiety and may assist the cancer doctor to select an improved treatment plan. Such tests are not available on the NHS in the UK (but they can sometimes be covered by private health insurance although this will require a case to be made by an oncologist).We show information below about different companies and their products to help patients when discussing the options with their doctors.
CancerType ID®. This test has been developed by bioTheranostics (part of the French bioMerieux group). It is priced at $US 3,600 and is purchased from bioTheranostics in the USA or Lab21 (£2,200) in the UK. This test, now in its second generation, measures the activity levels of 92 genes in a tumour and identifies 54 types of cancer - the company claims the broadest coverage so far among all molecular diagnostic tests for cancer of unknown or uncertain primary. A small amount of tumour tissue, usually from a previously taken biopsy is sent by your oncologist or pathologist to bioTheranostics' laboratory in San Diego, California (US) or Lab21 (UK). The test result is sent back to your oncologist and pathologist usually within 15 days from receipt of the sample in the UK. The report contains the prediction of the most likely primary origin of the tumour and the “rule-outs”. (The company licensed its first generation technology and this was marketed by Agendia in Europe as CupPrint®).
miRview™ mets developed by Rosetta Genomics costs $US 3,650. The test is a microRNA-based molecular diagnostic test. microRNAs (which are small noncoding sequences of RNA that are critically important in many biological and pathological processes) have been shown to be highly sensitive and offer tissue- specific biomarkers. The test identifies 25 different tumour types. (It measures the expression level of 48 microRNA biomarkers in the tumour). A small amount of tumour sample, usually from a previously taken biopsy, is despatched by the Oncologist to the USA. The ordering process is shown on the Rosetta Genomics website (which gives more information about this product). The resulting analysis, sent back to your oncologist, contains either a single high-confidence prediction or two low-confidence predictions as to the primary origin of the tumour.
Pathwork®Tissue of Origin Test . This test measures the profile of more than 1,500 genes in a tumour with an uncertain origin. It has been developed by Pathwork Diagnostics and is priced at $US 3,750. To order the test in the United States contact Pathwork at 650-366-1003 or eMail support@pathworkdx.com. To make enquiries or order the test (for £2,500) in the UK contact Pathwork's UK sales agent Trinity Health Innovations Ltd on telephone: 020 78569817 or by eMail at: enquiries@thihealth.co.uk. A small amount of tumour tissue, usually from a previously taken biopsy, is sent by your oncologist or pathologist to the Pathwork Diagnostic Laboratory in Redwood City, California. The laboratory then compares the genomic profile from the sample with those of 15 known tumour types which represent 90% of all solid tumours. The report shows a "Similarity Score" for all 15 tissue types (e.g. colorectal, kidney breast etc.), with an interpretation of the report, to help your doctor rule in or rule out certain tumour types. The result is available within 10-14 days of the initial request.
New York Times article in print on 10 March 2009 ( page D1): Genetic tests may reveal source of mystery tumors
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