A Rapid and Cost-Effective test for the Diagnosis of Liposar
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Researchers have established the latest advances in RNA technology and machine learning methods to develop a gene panel test that allows for a highly accurate diagnosis of the most common type of liposarcoma. It distinguishes benign lipomas from liposarcomas and can be performed at a lower cost than the current "gold standard" tests.

Among the current recommended diagnostic tests, immunohistochemistry(IHC) is inaccurate and hard to interpret, and fluorescent in situ hybridization(FISH) is relatively expensive. In this study, investigators explored whether NanoString technology, ideal for analyzing even poor quality RNA, could allow for fast diagnosis.

The investigators utilized a catalog of genetic information from over 20000 cancer samples, to identify the 20 most common genes that are overexpressed in liposarcomas. The model was applied to 45 retrospective cases to determine boundaries for positive and negative predictions and subsequently applied to real-world clinical settings.

The study outcomes were;
-- The retrospective and prospective cases probed by the NanoString assay had a 93% success rate and agreed with 97.8% of the time.
-- Results were available in 36 hours, where it took between one to two weeks to get FISH results.
-- NanoString costs amounted to US$270 per case, factoring in reagents, labor, and equipment maintenance.

" We applied these new technologies to improve patient care in areas where existing diagnostic methods were inaccurate, slow, or costly and saw substantial improvements", said the author.

The Journal of Molecular Diagnostics
Source: https://doi.org/10.1016/j.jmoldx.2020.11.011