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Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

For a paper appearing in JAMA Network Open, researchers at Sun Yat-sen University and other centers in China present findings from a molecular and clinical analysis of a relatively rare form of colorectal cancer known as synchronous multiple primary colorectal cancer (sMPCC). With targeted next-generation sequencing, immunohistochemistry, and other approaches, the team profiled mismatch repair (MMR) status, microsatellite instability (MSI), and tumor mutational burden in 239 cases of sMPCC, comparing features to those found in single primary colorectal cancer cases enrolled over nearly a decade, from late 2012 to the spring of 2021. Along with higher-than-usual MMR deficiency and MSI in the sMPCC cases, the authors found frequent EGFR and PIK3CA alterations in the CRCs involving multiple primary tumors, while flagging three distinct sMPCC subgroups based on MMR and MSI status. "We propose that the MMR/MSI status of each lesion in patients with sMPCC should be verified before treatment," they suggest, adding that the current findings "indicate that patients with sMPCC with different MMR/MSI statuses may be treated with personalized therapies for better disease management."

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.