Interested in licensing this patent?
MTEC can help explore whether this patent might be available for licensing for your application.
Publication Number
US-12297505-B2
Publication Date
2025-05-13
Expiration Date
Abstract
The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.
Core Innovation
The disclosure addresses the problem of indeterminate pulmonary nodules, including non-diagnostic bronchoscopy, where imaging can indicate a pulmonary nodule but does not reliably indicate the presence or absence of lung cancer. It presents a gene-expression-based diagnostic and risk-classification approach that is responsive to determining that the pulmonary nodule is indeterminate for indicating a presence of lung cancer or an absence of lung cancer in the subject.
In response to an indeterminate imaging determination, the disclosure obtains a nasal sample and assays messenger ribonucleic acid (mRNA) molecules from the nasal sample to determine a plurality of gene expression levels in the nasal sample. The gene expression levels include at least one gene expression level of a gene that correlates with self-reportable characteristics of the subject and at least one gene expression level of an informative gene that is differentially expressed in subjects with lung cancer compared to subjects without lung cancer.
The disclosure further processes the plurality of gene expression levels to determine that the pulmonary nodule is associated with or is likely to be associated with the presence of lung cancer in the subject. Processing includes weighting the at least one gene expression level that correlates with the self-reportable characteristics by its relative contribution to the determining, with the self-reportable characteristics comprising two or more members selected from smoking status, age, and gender.
Claims Coverage
Independent claim clm-00001 covers a diagnostic-and-treatment method that couples imaging-based indeterminate pulmonary nodule detection with nasal mRNA gene-expression determination, model-based risk association using self-reportable characteristic-correlating genes and lung-cancer informative genes, and a treatment administration step selected from specified lung-cancer therapies. The inventive features are driven by four elements.
Imaging indeterminate pulmonary nodule workflow trigger
Performing an imaging analysis to detect a presence of a pulmonary nodule and determining that the pulmonary nodule is indeterminate for indicating a presence of lung cancer or an absence of lung cancer, and responsive to that determining, obtaining a nasal sample.
Nasal mRNA gene expression including self-reportable correlation and lung-cancer informative genes
Assaying messenger ribonucleic acid (mRNA) molecules from the nasal sample to determine a plurality of gene expression levels, wherein the plurality comprises at least one gene expression level of a gene that correlates with self-reportable characteristics of the subject and at least one gene expression level of an informative gene differentially expressed in subjects with lung cancer compared to subjects without lung cancer.
Weighted processing using self-reportable characteristics
Processing the plurality of gene expression levels to determine that the pulmonary nodule is associated with or likely to be associated with presence of lung cancer, wherein processing comprises weighting the at least one gene expression level that correlates with self-reportable characteristics by its relative contribution to the determining, and wherein the self-reportable characteristics comprise two or more members selected from smoking status, age, and gender.
Treatment administration responsive to lung-cancer association determination
Responsive to the determining, administering a treatment to thereby treat the subject for lung cancer, wherein the treatment is selected from surgical resection, chemotherapy, chemoradiation, stereotactic body radiotherapy, and radiofrequency ablation.
The independent claim set centers on an imaging-defined indeterminate pulmonary nodule workflow that triggers nasal mRNA gene-expression measurement, followed by model-based processing that uses both self-reportable-characteristic correlated gene expression and lung-cancer informative gene differential expression with weighted contribution, and then administers a specified lung-cancer treatment responsive to the association determination.
Stated Advantages
The material describes diagnostic performance metrics and subgroup analyses.
The classifier yields a decision impact when used alongside bronchoscopy.
Documented Applications
Managing lung cancer evaluation when a pulmonary nodule is indeterminate.
Patients undergoing bronchoscopy for suspected lung cancer, including non-diagnostic bronchoscopy subgroups.
Interested in licensing this patent?