Assessment of diffuse glioma and responsiveness to therapy using synchronized marker detection
A glioma, diffuse technology, applied in the direction of biochemical equipment and methods, microbial determination/testing, measuring devices, etc., can solve the problems of inconsistency between molecular technology and test effectiveness
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[0099] The following examples are included to demonstrate various embodiments of the present disclosure. It should be appreciated by those skilled in the art that the techniques disclosed in the following examples represent techniques discovered by the inventors to function well in the practice of the invention and therefore can be considered to constitute preferred modes of practice of the invention. However, those of skill in the art should, in light of the present disclosure, appreciate that many changes can be made in the specific embodiments that are disclosed and still obtain a like or similar result without departing from the spirit and scope of the invention.
example 1
[0100] Example 1 : A novel Cas9-targeted long-read assay for simultaneous detection of IDH1 / 2 mutations and clinically relevant MGMT methylation in fresh biopsies of diffuse glioma
[0101] In this example, the use of nanopore Cas9-targeted sequencing (nCATS) is explored as a sequencing technology that enables simultaneous assessment of multiple biomarkers as an attractive option to overcome current clinical practice limitations in CNS tumor detection s Choice.
[0102] For the diagnosis of diffuse glioma (DG), the presence of isocitrate dehydrogenase 1 and 2 (IDH1 / 2) gene mutations is required for subtyping and is also a prognostic molecular marker [Louis DN et al., Neuropathy Acta Neuropathol. 2016;131:803-820; Yan H et al. (2009), N Engl JMed 360:765-773]. The methylation status of the O6-methylguanine-DNA methyltransferase (MGMT) promoter is routinely used to guide chemotherapy treatment decisions, especially in glioblastoma (GBM) (eg, grade IV astrocytes) tumor), whic...
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