Discover the latest breakthroughs in pathology and laboratory medicine
Luke Turner | | Quick Read
From High to Low
Ductal carcinoma in situ – a premalignant breast cancer – is currently classed as low-, intermediate-, or high-risk. New research evaluated whether artificial intelligence can be used to distinguish between those risk categories, using quantitative nuclear histomorphometric features from H&E slides. Both tumor size and orientation from intermediate cases were found to be much more closely aligned with the low-risk than the high-risk group. Many intermediate patients currently receive radiation therapy, but these findings suggest that such an aggressive approach may not be necessary (1).
RNA and DNA Join Forces
Data presented at the recent National Society of Genetic Counselors Annual Conference shows how more patients with genetic mutations can be identified by combining RNA and DNA tests compared with DNA testing alone. For the BRCA1 mutation commonly associated with breast cancer, the combination of RNA and DNA testing led to a 14 percent increase in the number of patients in whom cancer-linked mutations were identified. There was also a 4.5 percent relative decrease in the number of patients who would have received inconclusive results with only DNA testing (2).
A new contrast dye for magnetic resonance imaging (MRI) tests shows promise as an effective and noninvasive way to diagnose early-stage liver diseases. Contrast dyes improve visibility within the body during MRI, and the new ProCA32.collagen1 contrast agent targets the overexpression of collagen. Early tests in animal models have demonstrated its ability to detect early-stage alcohol-induced liver fibrosis and non-alcoholic steatohepatitis, the most severe form of non-alcohol fatty liver disease. Twice as accurate as conventional contrast agents, ProCA32.collagen1 can also detect tumors as small as 0.1 mm (3).
The sperm of infertile men have a specific epigenetic molecular signature attached to their DNA that fertile men lack, according to new research. Despite the increasing prevalence of male infertility worldwide, the current diagnostic procedure assesses sperm quantity and motility – a lengthy and often inaccurate approach. The signatures of differential DNA methylation regions associated with male idiopathic infertility problems may avoid long periods of uncertainty when diagnosing fertility issues. The researchers also uncovered a different biomarker within infertile patients that could indicate whether hormone therapy treatment may be effective (4).
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- H Li et al., “Quantitative nuclear histomorphometric features are predictive of Oncotype DX risk categories in ductal carcinoma in situ: preliminary findings”, Breast Cancer Res, 21, 114 (2019). PMID: 31623652.
- R Karam et al., “A Nationwide multi-center study provides insight into the increase in clinically actionable results from concurrent DNA and RNA genetic testing”. Poster presented at the 38th National Society of Genetic Counselors Annual Conference; November 6, 2019; Salt Lake City, USA. Poster #B-131.
- M Salarian et al., “Early detection and staging of chronic liver diseases with a protein MRI contrast agent”, Nat Commun, 10, 4777 (2019). PMID: 31664017.
- S Luján et al., “Sperm DNA methylation epimutation biomarkers for male infertility and FSH therapeutic responsiveness”, Sci Rep, 9, 16786 (2019). PMID: 31727924.