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Single-cell DNA analysis has uncovered a "clone war" in children with myelodysplastic syndrome (MDS) in which the cells of these patients may self-correct
This research was published in the journal Natural Medicine, entitled " Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes "
SGR is a rare spontaneous event in which somatic mutations occur in a given cell, sometimes offsetting the effects of pathogenic germline mutations
Unlike adults with the disease, if children are born with specific germline mutations in SAMD9 and SAMD9L (SAMD9/ 9lmut), they may be susceptible to MDS
In this study, the researchers investigated a clinically annotated pediatric MDS cohort (n = 669) to define "the prevalence, genetic landscape, phenotype, treatment outcome, and clonal structure of SAMD9/9L syndrome
Some findings include that germline SAMD9/9Lmut accounted for 8% of consecutive diagnoses of MDS, which is mutually exclusive with GATA2 mutations in 7% of the cohort
By using the single-cell analysis technology of Mission Bio's Tapestri platform, the researchers found that two-thirds of children with SAMD9/L mutations will have SGR events, making the mutant genes unable to express, including some genes that can restore normal blood development
Dr.
