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Rectal Cancer Transcriptomes Provide Treatment Response, Survival Clues

For a paper appearing in JAMA Network Open, Japanese researchers turn to transcriptomics to search for survival-related markers that can be detected prior to treatment in individuals with advanced rectal cancers, while also tracking response to neoadjuvant chemoradiotherapy (CRT). The team turned to RNA sequencing to retrospectively profile pretreatment biopsy samples collected from 298 rectal cancer patients receiving neoadjuvant chemoradiotherapy from the spring of 2004 to fall 2020, using consensus molecular subtype classification and microenvironment cell populations counter scoring approaches to cluster the cases into four transcriptomic subtypes and characterize tumor immune cell infiltration. The results suggest neoadjuvant chemoradiotherapy response, recurrence-free survival, and overall survival were linked to cytotoxic lymphocyte scores. "In this case series of patients with rectal cancer treated with neoadjuvant CRT, the cytotoxic lymphocyte score in pretreatment biopsy samples, as computed by RNA sequencing, was associated with response to CRT and survival," the authors report. "This finding suggests that the cytotoxic lymphocyte score might serve as a biomarker in personalized multimodal rectal cancer treatment."

The Scan

Self-Reported Hearing Loss in Older Adults Begins Very Early in Life, Study Says

A JAMA Otolaryngology — Head & Neck Surgery study says polygenic risk scores associated with hearing loss in older adults is also associated with hearing decline in younger groups.

Genome-Wide Analysis Sheds Light on Genetics of ADHD

A genome-wide association study meta-analysis of attention-deficit hyperactivity disorder appearing in Nature Genetics links 76 genes to risk of having the disorder.

MicroRNA Cotargeting Linked to Lupus

A mouse-based study appearing in BMC Biology implicates two microRNAs with overlapping target sites in lupus.

Enzyme Involved in Lipid Metabolism Linked to Mutational Signatures

In Nature Genetics, a Wellcome Sanger Institute-led team found that APOBEC1 may contribute to the development of the SBS2 and SBS13 mutational signatures in the small intestine.