PMID- 28433077
OWN - NLM
STAT- MEDLINE
DCOM- 20180212
LR  - 20181202
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Linking)
VI  - 19
IP  - 3
DP  - 2017 May
TI  - Development and Clinical Utility of a Blood-Based Test Service for the Rapid 
      Identification of Actionable Mutations in Non-Small Cell Lung Carcinoma.
PG  - 404-416
LID - S1525-1578(17)30094-6 [pii]
LID - 10.1016/j.jmoldx.2016.11.004 [doi]
AB  - Nearly 80% of cancer patients do not have genetic mutation results available at 
      initial oncology consultation; up to 25% of patients begin treatment before 
      receiving their results. These factors hinder the ability to pursue optimal 
      treatment strategies. This study validates a blood-based genome-testing service 
      that provides accurate results within 72 hours. We focused on targetable variants 
      in advanced non-small cell lung carcinoma-epidermal growth factor receptor gene 
      (EGFR) variant L858R, exon 19 deletion (DeltaE746-A750), and T790M; GTPase Kirsten 
      ras gene (KRAS) variants G12C/D/V; and echinoderm microtubule associated protein 
      like and 4 anaplastic lymphoma receptor tyrosine kinase fusion (EML4-ALK) 
      transcripts 1/2/3. Test development included method and clinical validation using 
      samples from donors with (n = 219) or without (n = 30) cancer. Clinical 
      sensitivity and specificity for each variant ranged from 78.6% to 100% and 94.2% 
      to 100%, respectively. We also report on 1643 non-small cell lung carcinoma 
      samples processed in our CLIA-certified laboratory. Mutation results were 
      available within 72 hours for 94% of the tests evaluated. We detected 10.5% 
      mutations for EGFR sensitizing (n = 2801 samples tested), 13.8% mutations for 
      EGFR resistance (n = 1055), 13.2% mutations in KRAS (n = 3477), and 2% mutations 
      for EML4-ALK fusion (n = 304). This rapid, highly sensitive, and actionable 
      blood-based assay service expands testing options and supports faster treatment 
      decisions.
CI  - Copyright (c) 2017 American Society for Investigative Pathology and the Association 
      for Molecular Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Mellert, Hestia
AU  - Mellert H
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Foreman, Trudi
AU  - Foreman T
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Jackson, Leisa
AU  - Jackson L
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Maar, Dianna
AU  - Maar D
AD  - Bio-Rad Digital Biology Center, Pleasanton, California.
FAU - Thurston, Scott
AU  - Thurston S
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Koch, Kristina
AU  - Koch K
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Weaver, Amanda
AU  - Weaver A
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Cooper, Samantha
AU  - Cooper S
AD  - Bio-Rad Digital Biology Center, Pleasanton, California.
FAU - Dupuis, Nicholas
AU  - Dupuis N
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Sathyanarayana, Ubaradka G
AU  - Sathyanarayana UG
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Greer, Jakkie
AU  - Greer J
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Hahn, Westen
AU  - Hahn W
AD  - Biodesix Inc., Boulder, Colorado.
FAU - Shelton, Dawne
AU  - Shelton D
AD  - Bio-Rad Digital Biology Center, Pleasanton, California.
FAU - Stonemetz, Paula
AU  - Stonemetz P
AD  - Bio-Rad Digital Biology Center, Pleasanton, California.
FAU - Pestano, Gary A
AU  - Pestano GA
AD  - Biodesix Inc., Boulder, Colorado. Electronic address: gary.pestano@biodesix.com.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (Cell Cycle Proteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.10.1 (ALK protein, human)
RN  - EC 2.7.10.1 (Anaplastic Lymphoma Kinase)
RN  - EC 2.7.10.1 (ErbB Receptors)
RN  - EC 2.7.10.1 (Receptor Protein-Tyrosine Kinases)
RN  - EC 3.4.21.- (EML4 protein, human)
RN  - EC 3.4.21.- (Serine Endopeptidases)
RN  - EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))
SB  - IM
MH  - Anaplastic Lymphoma Kinase
MH  - Carcinoma, Non-Small-Cell Lung/*genetics
MH  - Cell Cycle Proteins/genetics
MH  - DNA Mutational Analysis/*methods
MH  - ErbB Receptors/genetics
MH  - Exons/genetics
MH  - Humans
MH  - Lung Neoplasms/genetics
MH  - Microtubule-Associated Proteins/genetics
MH  - Mutation
MH  - Oncogene Proteins, Fusion/genetics
MH  - Proto-Oncogene Proteins p21(ras)/genetics
MH  - Receptor Protein-Tyrosine Kinases/genetics
MH  - Serine Endopeptidases/genetics
EDAT- 2017/04/24 06:00
MHDA- 2018/02/13 06:00
CRDT- 2017/04/24 06:00
PHST- 2016/05/27 00:00 [received]
PHST- 2016/11/15 00:00 [revised]
PHST- 2016/11/28 00:00 [accepted]
PHST- 2017/04/24 06:00 [entrez]
PHST- 2017/04/24 06:00 [pubmed]
PHST- 2018/02/13 06:00 [medline]
AID - S1525-1578(17)30094-6 [pii]
AID - 10.1016/j.jmoldx.2016.11.004 [doi]
PST - ppublish
SO  - J Mol Diagn. 2017 May;19(3):404-416. doi: 10.1016/j.jmoldx.2016.11.004.