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Worse Outcomes Found Among Melanoma Patients Whose Brain Metastases Have BRAF V600E Alterations

Patients with melanoma brain metastases that have BRAF V600E alterations have worse outcomes, according to a new analysis appearing in JAMA Network Open. A University of California, San Francisco-led team has analyzed bulk DNA sequencing and single-nuclear RNA sequencing data from brain metastases of 94 consecutive patients, though they particularly focused on BRAF V600E alterations, which were found among 33 percent of their cohort. Over a median follow up of 12.5 months, melanoma patients with brain metastases with BRAF V600E alterations had worse intracranial progression-free and worse overall survival. With their single-cell data, the researchers further found brain metastases with BRAF V600E variants harbored fewer types of immune cells. This, combined with an additional finding that patients with these variants did not respond as well to immunotherapy, indicated to the researchers that BRAF V600E alteration status could be a key biomarker of the tumor microenvironment and treatment response. " Patients with BRAF V600E variant melanoma brain metastases may thus benefit from alternative CNS-penetrant systemic regimens," the researchers write.

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.