Pathology: What’s in the News?
A speedy summary of the latest in pathology news – including single-cell sequencing for lupus, tear film biomarker diagnostics, and more
George Francis Lee | | News
To date, the development of point-of-care biomarker devices has been hindered by technological issues, including device sensitivity and sample contamination. Now, a South Korean team has developed a biosensor capable of generating nanostructured and nanoporous surfaces with unprecedented sensitivity and contamination resistance (1).
The Fire in Your Skin
Lupus is known to cause overactive immune response in patients, but the butterfly-shaped rashes that manifest across patients’ bodies are not fully understood. A new study uses single-cell RNA sequencing analysis to show how otherwise healthy-looking skin in lupus patients predisposes them to flares and rashes (2).
Blubbering for Biomarkers
Because of tear fluid’s high concentration of proteins, it offers an ideal opportunity for biomarker hunting. The fluid’s small sample volume (and the proteins’ wide dynamic range) present tough challenges – but now, researchers have developed a new in-strip approach to protein digestion and mass spectrometric analysis that significantly increases biomarker identification capabilities (3).
The UK’s National Genomic Test Directory has added 15 new tests and amendments to its menu, including new genetic testing for acute myeloid leukemia, solid tumors, and rare diseases. Included in the update is a new prenatal test for RB1 gene mutations known to cause retinoblastoma, an eye cancer that is often hereditary and can be difficult to diagnose early. (4).
Biomarkers, Bloody Biomarkers
Research into blood neurofilament light (NfL) across a range of frontotemporal dementia syndromes and presymptomatic mutation carriers indicates that NfL elevation before phenoconversion is associated with disease severity. Nfl could potentially be used as an early diagnostic and prognostic tool (5).
- J Sabaté del Río et al., Adv Mater, June, 24, e2200981 (2022). PMID: 35429065.
- A Billi et al., Sci Transl Med, 14, eabn2263 (2022). PMID: 35476593.
- G Jones et al., Int J Mol Sci, 23, 2307 (2022). PMID: 35216421.
- Medscape UK (2022). Available at: https://bit.ly/3ufH3yp.
- T Gendron et al., Cell Rep Med, 19, 4 (2022). PMID: 35492244.