31 results about "Mutational status" patented technology

The present invention provides compositions and methods for simultaneously detecting mutational status and gene copy number. In particular, the present invention provides simultaneous measurement of gene copy number and detection of the L858R and Exon 19 del mutations in a tissue sample.

A method, including a computer-implemented method, is provided for in vivo detection of epidermal growth factor receptor (EGFR) mutation status within peritumoral edematous tissue of a patient. The method includes performing quantitative pattern analysis of magnetic resonance imaging (MRI) data corresponding to MRI of in vivo peritumoral edematous tissue to determine a level of spatial heterogeneity or similarity within the in vivo peritumoral edematous tissue. EGFR mutation status is assigned as one of negative or positive based on the level of spatial heterogeneity or similarity determined. A non-transitory computer-readable storage medium and a system are also provided.

The present invention provides methods of diagnosis and prognosis of human chronic lymphocytic leukemia (CLL) in a patient in need thereof and methods to determine IgVH mutational status. The methods of the present invention involve measuring the expression profile of two known genes: LPL and ADAM29; and comparing the ratio of their expression to diagnose the presence of CLL or to prognose the likelihood of developing CLL or the symptoms consistent with CLL.

The invention relates to a preparation and a recurrence risk model for judging the prognosis of early endometrial cancer. The present invention judges the POLE mutation status by sequencing, detects the mismatch repair protein, p53 and VISTA in 4 by immunohistochemical method, and judges the histological grade and immunohistochemical result of the tumor by observing under a microscope, so as to determine the molecular classification of endometrial cancer. Type, tumor grade, and expression of VISTA, and then assign a risk score, 0 for POLE mutation, 1 for dMMR and NSMP, and 2 for p53 in molecular typing; 0 for VISTA-positive and 1 for VISTA-negative 1 point for high-grade tumors and 0 for low-grade tumors. The overall risk score is the sum of the three above-mentioned scores, and the total score ranges from 0 to 4: 0–1 as low risk, 2 as intermediate risk, and 3–4 as high risk. The model can effectively predict the recurrence and death risk of early stage (FIGO I and II) endometrial cancer, so as to avoid over-treatment and under-treatment, and achieve the purpose of precise treatment and individualized treatment.

The invention discloses a pheochromocytoma metastasis prediction system based on a molecular marker. The system is characterized in that the system comprises a variable input submodule, an analysis module and an output module; the variable input submodule comprises a tumour primary diameter input submodule, a primary tumour part input submodule, a catecholamine secretion type input submodule, a blood vessel invasion state input submodule, an ERBB-2 overexpression state input submodule and an SDHB mutation state input submodule; the analysis module can build a metastasis probability alignment chart and calculate a total risk value based on variables input by the variable input submodule and can calculate a pheochromocytoma metastasis predicted value of a pheochromocytoma patient according to the total risk value; the output module is used for outputting the pheochromocytoma metastasis predicted value of the pheochromocytoma patient. According to the pheochromocytoma metastasis prediction system based on the molecular marker, SDHB germ-line gene mutation and primary tumour ERBB-2 protein high-expression, the diameter and position of a primary tumour, blood vessel invasion and the catecholamine secretion type are combined, and accordingly the pheochromocytoma metastasis prediction system is built and shows more excellent prediction accuracy compared with separately used clinical risk factors.

The present invention is an endometrial cancer prognosis evaluation system (MIP score) based on molecular typing, immune scoring and pathological morphological diagnosis, which is used to determine the prognosis of endometrial cancer. Sequencing was used to determine POLE mutation status and immunohistochemistry was used to detect 4 mismatch repair proteins and p53 to determine molecular classification. Immunohistochemistry was used to detect the expression of VISTA in tumor stromal immune cells and perform immune scoring. The histological grade and lymphovascular space invasion (LVSI) of the tumor were determined by observing the pathological morphology under the microscope. Recurrence risk scores were assigned respectively. This prognostic evaluation system can effectively distinguish the risk of recurrence and death of endometrial cancer.

Radiolabeled compounds which are erlotinib analogs that feature a radioactive halogen and processes of preparing same are disclosed. Uses of these radiolabeled compounds in radioimaging, for identifying and monitoring a level, distribution and / or mutational status of deregulated EGFR, and / or in radiotherapy, are also disclosed.

An ultra-sensitive, specific methodology for detecting PIK3CA mutations in biological samples of cancer patients, comprises a combination of allele-specific, asymmetric rapid PCR and melting analysis in a DNA sample from Circulating Tumor Cells, cell-free DNA in plasma / serum, or Formalin-Fixed Paraffin-Embedded tissues. Using the allele-specific primers for hotspot mutations in exons 9 and 20 (E545K and H1047R), detection can enhance amplification of mutant PIK3CA allele sequence, whereas presence of corresponding competitive blocking unlabeled probes for each exon can avoid non-specific amplification of wild-type PIK3CA sequence increasing the sensitivity and the specificity of method. The mutational detection is completed with melting curve analysis of the unlabeled probe and DNA template of the mutant PIK3CA sequence. Evaluation of PIK3CA mutational status on CTC in peripheral blood and cfDNA in plasma / serum of patients has potential for clinical applications and therapeutic interventions, since presence of PIK3CA mutations is associated with response to molecular targeted therapies.