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Single-Cell RNA Sequencing Study Finds Early Genomic Drivers of Multiple Myeloma

In a study appearing in Cancer Cell, researchers from MD Anderson Cancer Center identify early genomic drivers of malignant transformation of multiple myeloma. They performed single-cell RNA and B cell receptor sequencing of samples from 52 patients with myeloma precursors, which they compared to samples from people with multiple myeloma and healthy controls. "Integrating single-cell RNA sequencing and B cell receptor sequencing offers advantages for detecting clonal or aberrant plasma cells during the early stages of tumorigenesis," the authors write in their paper. They uncovered substantial genomic and transcriptional heterogeneity in the earliest precursor stages of the disease, and additionally found that the intratumoral heterogeneity extends to established myeloma-related genes, such as CCND1CD38BCMALAMP5, and MYC. The researchers further integrated fluorescence in situ hybridization along with single-cell sequencing data, which helped overcome the limitation of low tumor purity in the precursor stage to identify genetic abnormalities in multiple myeloma precursors. "These findings add to our knowledge about myeloma precursor disease progression, providing valuable insights into patient risk stratification, biomarker discovery, and possible clinical application," the authors 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.