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Diagnostics Genetics and epigenetics, Oncology

Growth in Cancer Genetics

Marking Pancreatic Cancer

Pancreatic ductal adenocarcinoma is one of the deadliest cancers – and many patients miss out on FDA-approved treatment. New research has found that METTL16 overexpression may be a new biomarker indicating potential susceptibility to PARP inhibitor treatment. Researchers have found that its protein product stymies DNA repair by interrupting the double-strand repair protein MRE11 (1).

(Don’t) Dry Those Tears

New research has found that aqueous humor can reliably be used for retinoblastoma diagnosis and prognosis (2). Analyzing DNA methylation profiles in aqueous humor samples linked to the cancer, the researchers noted a particular methylation signature that promotes tumor growth, along with distinct molecular subtypes that may enable treatment success prediction.

Taking Action on FGFR2

Clinical responses to FGFR inhibitors in cancer treatment have been mixed. Now, though, transposon-based screening and tumor modeling has revealed an array of actionable FGFR2 mutations (3). Genomic alterations that generate stable FGFR2ΔE18 variants may be viable targets for therapy; as a result, cancers exhibiting such mutations should be considered for FGFR inhibitor treatment.

Lucrative Ligand Levels

A well-known oncogene, EGFR is frequently amplified in glioblastoma tumors. Researchers have now demonstrated that, when ligand levels are increased (such as through tofacitinib), EGFR shifts to a tumor-suppressive role (4). This results in improved survival through suppressed invasion and the generation of small, hyperproliferating, noninvasive tumors. Low levels of EGFR ligands were associated with worse patient outcomes.

AMP Advice

A paper by the Association for Molecular Pathology (AMP) has laid out guidance in the development and testing of TPMT and NUDT15 genotyping assays for clinical use (5). The goal of the new guidelines is to promote standardization across labs when investigating multiethnic, function-altering TPMT and NUDT15 variant alleles.

A SERS sandwich

A new, highly sensitive biosensor can detect PD-L1 biomarkers to help monitor tumor growth (6). Based on surface-enhanced Raman spectroscopy technology, these aptasensors measure PD-L1 on circulating malignant exosomes by sandwiching it between CD63-targeting magnetic probes and PD-L1-targeting SERS tags. The technique showed greater sensitivity than standard ELISA.

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  1. X Zeng et al., Nat Cancer, 3, 1088 (2022). PMID: 36138131.
  2. HT Li et al., Nat Commun, 13, 5523 (2022). PMID: 36130950.
  3. D Zingg et al., Nature, 608, 609 (2022). PMID: 35948633.
  4. G Guo et al., Nat Cell Biol, 24, 1291 (2022). PMID: 35915159.
  5. VM Pratt et al., J Mol Diagn, 10, 1051 (2022). PMID: 35931343.
  6. M Muhammad et al., Biosens Bioelectron X, 12, 100177 (2022).
About the Author
George Francis Lee

Deputy Editor, The Pathologist

Interested in how disease interacts with our world. Writing stories covering subjects like politics, society, and climate change.

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