Advanced Technology Yields Accurate Diagnosis Of Liposarcoma

Latest advances in RNA technology and machine learning methods have contributed to the development of a gene panel test that provides a highly reliable diagnosis of liposarcoma.

Latest advances in RNA technology and machine learning methods have contributed to the development of a gene panel test called NanoString technology that provides quick and highly reliable diagnosis of the most common types of liposarcoma, as per a study in The Journal of Molecular Diagnosis, published by Elsevier.

Benign lipomas can be easily distinguished from the liposarcomas (cancer that occurs in fat cells of the body, commonly in the limbs or the abdomen) using the new assay in the laboratories at a much lower cost than the current "gold standard" tests – immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH). The NanoString technology can also analyze poor-quality RNA through gene expression.

Liposarcoma - Types, Risk Factors, Diagnosis & Management
Liposarcoma is a cancer of the fat cells in the body. It can occur anywhere in the body but most commonly affects the limbs, abdomen and groin region.

‘Latest advances in RNA technology and machine learning methods have contributed to the development of a gene panel test called NanoString technology that provides a quick and highly reliable diagnosis of the most common types of liposarcoma. This proves how a different category of mutation that is carried by liposarcoma, can be detected. The biotechnological advances also promise improvement in other types of cancers such as breast cancer.’

"Liposarcomas are a type of malignant cancer that is difficult to diagnose because, even under a microscope, it is hard to differentiate liposarcomas from benign tumors or other types of cancer that need different treatments. Many liposarcomas look like their benign and relatively common counterparts, lipomas. Diagnostic delay and uncertainty cause severe stress for patients, and misdiagnosis can have many consequences including delayed or inadequate treatment or unnecessary surgical procedures and long-term postoperative follow up", says lead investigator Torsten Owen Nielsen, MD, Ph.D., Genetic Pathology Evaluation Centre, Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

The research team identified the 20 most common genes that are overexpressed in liposarcomas, using data from the Cancer Genome Atlas, a catalog of genetic information from over 20,000 cancer samples. The NanoString results demonstrated a clear separation of lipoma from liposarcoma cases.

Nanostring Technology in Diagnosis of Liposarcoma

A machine learning model was developed to determine the probability that a given sample was positive for liposarcoma and was then applied to 45 retrospective cases to determine boundaries for positive and negative predictions.

93% success rate and 97.8% agreement with the standard tests were seen in the retrospective and prospective cases probed by the NanoString assay. The results from the assay amounted to US$270 per case with consumption of only 36 hours, as compared to one-two weeks for the FISH results.

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"We applied these new technologies to improve patient care in areas where existing diagnostic methods were inaccurate, slow, or costly and saw substantial improvements. There is no patent on this test; anyone can apply the method we describe, and we are happy to help others get set up to run it at their own institution," says Dr. Nielsen.

The NanoString-based assay earlier developed by the team for sarcomas bearing diagnostic fusion oncogenes is now in clinical use. The present study thus proves how a different category of mutation that is carried by liposarcoma, can be detected.

An accurate and fast diagnosis serves as a key task for dealing with patients who suffer from difficult and quite large tumors. Further biotechnological advances promise improvement also in other cancers such as breast cancer.

Source-Medindia