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

Pending Publication Date: 2022-05-17
BIOVENTURES LLC
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

However, to date, there has been extensive variability in biomarker assessment, as molecular techniques and test validity are inconsistent across the world and even within geographic regions

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  • Assessment of diffuse glioma and responsiveness to therapy using synchronized marker detection
  • Assessment of diffuse glioma and responsiveness to therapy using synchronized marker detection
  • Assessment of diffuse glioma and responsiveness to therapy using synchronized marker detection

Examples

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example

[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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Abstract

The present disclosure relates to a method for simultaneously detecting mutations and methylation levels in a biological sample of a subject. Specifically, the present disclosure relates to a method for diagnosing a central nervous system tumor, such as diffuse glioma, in a subject and comprises the step of simultaneously determining the presence or absence of mutations in one or more regions of interest and the level of methylation.

Description

[0001] CROSS-REFERENCE TO RELATED APPLICATIONS [0002] This application claims priority to US Provisional Application Serial No. 62 / 914,141, filed October 11, 2019, which is incorporated herein by reference in its entirety. technical field [0003] The present disclosure generally relates to methods for detecting diffuse glioma in a biological sample of a subject and assessing responsiveness to treatment. [0004] Sequence Listing Reference [0005] This application contains a Sequence Listing which has been submitted via EFS-Web in ASCII format and which is hereby incorporated by reference in its entirety. Said ASCII copy, created on October 12, 2020, is named 663400_SequnceListing_ST25 and is 1,411 bytes in size. Background technique [0006] Diffuse gliomas (DGs) account for 80% of primary malignant central nervous system tumors in adults and are traditionally diagnosed based on pathological criteria to determine histological type (eg, astrocytoma, oligodendrocytes)...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6869C12N9/90C12N9/12C12Q1/6806C12Q1/6855C12Q1/6876G01N33/574
CPCC12Q1/6886C12Q2600/156C12Q2600/154C12N9/22G01N2800/52G01N33/57407C12Q1/6869C12Q2521/525C12Q2525/191C12Q2535/122C12Q2537/164
Inventor A·罗德里格斯T·王苏拉瓦特
Owner BIOVENTURES LLC
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