Comparison of liquid-based to tissue-based biopsy analysis by targeted next generation sequencing in advanced non-small cell lung cancer: a comprehensive systematic review

Comparative genomic analysis of primary tumors and paired brain metastases in lung cancer patients by whole exome sequencing: a pilot study

“…We showed that primary lung tumor mutation profile was not representative of the BM mutation profile, with acquired mutations and chromosomic alterations in BMs. Data from literature converge to say that there are clearly some difficulties to detect ctDNA from primary brain tumors as well as from BMs in the blood [22][23][24]. Therefore, it will be interesting to determine whether free ctDNA analysis from cerebrospinal fluid and/or blood is more representative of BMs profile than tissue samples from the primary lung tumor.…”

Detecting Resistance to Therapeutic ALK Inhibitors in Tumor Tissue and Liquid Biopsy Markers: An Update to a Clinical Routine Practice

“…Therefore, an additional independent study may be required to validate the results. Moreover, different studies revealed a lower level of detection of ALK rearrangements in LB compared to detection in matched tissue biopsies of patients [ 39 , 42 , 43 ]. The persistence or reappearance in tumors of an ALK rearrangement when on targeted treatment is sometimes associated to initial resistance or tumor progression and may be investigated using a new tissue biopsy or even a LB.…”

“…The detection of an ALK rearrangement using blood is performed with circulating free nucleic acids in the plasma using targeted approaches or NGS [ 11 , 39 , 42 ]. Other approaches have been developed including detection and characterization of CTCs isolated by filtration of blood and the identification of the ALK status by IHC and/or FISH [ 48 , 49 , 50 ].…”

“…Studies comparing analyses with NGS obtained with blood or tissue from the same patient are sometimes conflicting. Many studies demonstrated a lower sensitivity of NGS approaches from LB samples for the detection of an ALK rearrangement, compared to matched patient tissue biopsies [ 42 ]. Moreover, some genomic anomalies including fusions, copy number alterations and some focal amplifications (in particular in MET or ALK ) seem to be more difficult to detect in blood than in tissues, as shown in a number of comparative studies [ 107 , 108 , 109 , 110 ].…”

Finding new cancer epigenetic and genetic biomarkers from cell-free DNA by combining SALP-seq and machine learning

“…The tumor materials include circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), cell-free DNA (cfDNA), messenger RNA (mRNA), microRNA (miRNA), and exosomes. For example, these liquid biopsies have been intensively investigated for the most dentrimental cancer of non-small cell lung cancer (NSCLC) [4] , [5] , [6] , [7] , [8] , [9] , [10] , [11] . Especially, the liquid biopsy for plasma ctDNA has been widely used in companion diagnosis to guide precision therapy of NSCLC.…”