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Acute T-lymphoblastic leukemia (T-ALL) is an invasive form of leukemia, most commonly found in children, characterized by very little stained weight row at the time of diagnosis and 10-20 individual cell mutations in the protein coding area.
most T-ALL cases carry noTCH1 activation mutations and genetic mutations associated with kinase signaling, transcription regulation, or protein translation.
In order to gain more understanding of cloning heterogeneity levels during diagnosis and treatment, Servera and others used Tapestri platforms to sequence single-cell targeted DNA, design a custom ALL panel, and obtain accurate single nucleotide mutations and small fragments of insertion-missing mutations, requiring each sample to measure about 4,400 cells at a time, covering 110 genes.
(clone changes from diagnosis to recurrence of patient XD83) analyzed 25 samples from 8 T-ALL patients totaling 108,188 cells.
diagnosis, a major clone (35 percent of cells) can usually be observed, accompanied by several secondary clones, some of which are less than 1 percent of the total number of cells.
four patients had two NOTCH1 mutations, some of which were present in fewer clones, indicating that T-ALL cells had a greater pressure to obtain the NOTCH1 mutation during development.
by analyzing longitudinal samples, the researchers also detected residual leukemia cells in the confirmed samples, as well as the presence and cloning properties of small numbers of clones that gradually developed into clinically relevant primary clones in the later stages of the disease.
, single-cell DNA amplification sequencing is a sensitive way to detect cloning structure and evolution in T-ALL.
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