Precision medicine aims to identify the right drug, for the right patient, at the right dose, at the right time, which is particularly important in cancer therapy. Problems such as the variability of treatment respons...Precision medicine aims to identify the right drug, for the right patient, at the right dose, at the right time, which is particularly important in cancer therapy. Problems such as the variability of treatment response and resistance to medication have been longstanding challenges in oncology, especially for development of new medications. Solid tumors, unlike hematologic malignancies or brain tumors, are remarkably diverse in their cellular origins and developmental timing. The ability of next-generation sequencing(NGS) to analyze the comprehensive landscape of genetic alterations brings promises to diseases that have a highly complex and heterogeneous genetic composition such as cancer. Here we provide an overview of how NGS is able to facilitate precision medicine and change the paradigm of cancer therapy, especially for solid tumors, through technical advancements, molecular diagnosis, response monitoring and clinical trials.展开更多
Aim:To investigate if the genetic information provided by sequencing of both solid and liquid biopsies can shed light on tumor heterogeneity,and to understand the clinical usefulness of adding blood profiling to stand...Aim:To investigate if the genetic information provided by sequencing of both solid and liquid biopsies can shed light on tumor heterogeneity,and to understand the clinical usefulness of adding blood profiling to standard tissue analysis in cancer care.Methods:Data from 351 patients with stage IV solid tumors for whom molecular profiling of their solid and liquid biopsies was available were studied,with a focus on the discrepant molecular information found between tissue and blood samples.Results:In 86%of patients,solid and liquid biopsies provided different molecular information.Discrepant gene mutations with a functional impact on the corresponding protein were studied in detail.In 97%of cases,these additional mutations provided clinical value,mainly predicting sensitivity or resistance to targeted therapies.Specifically,42%of the mutations found only in the liquid biopsy were directly predictive of approved therapies(80%targeted therapies),while 54%were inclusion criteria for molecularly-matched trials.Conclusion:This study suggests that the addition of blood profiling should be considered in routine clinical oncology,especially for patients with metastatic disease where integrated analysis of solid and liquid biopsies provides a more complete characterization of tumor heterogeneity and provides valuable clinical information for patient treatment.展开更多
文摘Precision medicine aims to identify the right drug, for the right patient, at the right dose, at the right time, which is particularly important in cancer therapy. Problems such as the variability of treatment response and resistance to medication have been longstanding challenges in oncology, especially for development of new medications. Solid tumors, unlike hematologic malignancies or brain tumors, are remarkably diverse in their cellular origins and developmental timing. The ability of next-generation sequencing(NGS) to analyze the comprehensive landscape of genetic alterations brings promises to diseases that have a highly complex and heterogeneous genetic composition such as cancer. Here we provide an overview of how NGS is able to facilitate precision medicine and change the paradigm of cancer therapy, especially for solid tumors, through technical advancements, molecular diagnosis, response monitoring and clinical trials.
文摘Aim:To investigate if the genetic information provided by sequencing of both solid and liquid biopsies can shed light on tumor heterogeneity,and to understand the clinical usefulness of adding blood profiling to standard tissue analysis in cancer care.Methods:Data from 351 patients with stage IV solid tumors for whom molecular profiling of their solid and liquid biopsies was available were studied,with a focus on the discrepant molecular information found between tissue and blood samples.Results:In 86%of patients,solid and liquid biopsies provided different molecular information.Discrepant gene mutations with a functional impact on the corresponding protein were studied in detail.In 97%of cases,these additional mutations provided clinical value,mainly predicting sensitivity or resistance to targeted therapies.Specifically,42%of the mutations found only in the liquid biopsy were directly predictive of approved therapies(80%targeted therapies),while 54%were inclusion criteria for molecularly-matched trials.Conclusion:This study suggests that the addition of blood profiling should be considered in routine clinical oncology,especially for patients with metastatic disease where integrated analysis of solid and liquid biopsies provides a more complete characterization of tumor heterogeneity and provides valuable clinical information for patient treatment.
