PMID- 33636938
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20210301
IS  - 2576-9456 (Print)
IS  - 2475-7241 (Linking)
VI  - 3
IP  - 2
DP  - 2018 Sep 1
TI  - Rapid Somatic Mutation Testing in Colorectal Cancer by Use of a Fully Automated 
      System and Single-Use Cartridge: A Comparison with Next-Generation Sequencing.
PG  - 178-184
LID - 10.1373/jalm.2018.026278 [doi]
AB  - BACKGROUND: Molecular tests have been increasingly used in the management of 
      various cancers as more targeted therapies are becoming available as treatment 
      options. The Idylla system is a fully integrated, cartridge-based platform that 
      provides automated sample processing (deparaffinization, tissue digestion, and 
      DNA extraction) and real-time PCR-based mutation detection with all reagents 
      included in a single-use cartridge. This retrospective study aimed at evaluating 
      both the Idylla KRAS and NRAS-BRAF-EGFR492 Mutation Assay cartridges (research 
      use only) against next-generation sequencing (NGS) by using colorectal cancer 
      (CRC) tissue samples. METHODS: Forty-four archived formalin-fixed 
      paraffin-embedded (FFPE) CRC tissue samples previously analyzed by targeted NGS 
      were tested on the Idylla system. Among these samples, 17 had a mutation in KRAS 
      proto-oncogene, GTPase (KRAS), 5 in NRAS proto-oncogene, GTPase (NRAS), and 12 in 
      B-Raf proto-oncogene, serine/threonine kinase (BRAF) as determined using the Ion 
      AmpliSeq 50-gene Cancer Hotspot Panel v2. The remaining 10 samples were wild-type 
      for KRAS, NRAS, and BRAF. Two 10-mum FFPE tissue sections were used for each 
      Idylla run, 1 for the KRAS cartridge, and 1 for the NRAS-BRAF-EGFR492 cartridge. 
      All cases met the Idylla minimum tumor content requirement for KRAS, NRAS, and 
      BRAF (>/=10%). Assay reproducibility was evaluated by testing commercial controls 
      derived from human cell lines, which had an allelic frequency of 50% and were run 
      in triplicate. RESULTS: The Idylla system successfully detected all mutations 
      previously identified by NGS in KRAS (G12C, G12D, G12V, G13D, Q61K, Q61R, A146T), 
      NRAS (G12V, G13R, Q61H), and BRAF (V600E). Compared with NGS, Idylla had a 
      sensitivity of 100%. Analysis of the mutated commercial controls demonstrated 
      agreement with the expected result for all samples and 100% reproducibility. The 
      Idylla system produced results quickly with a turnaround time of approximately 2 
      h. CONCLUSION: The Idylla system offers reliable and sensitive testing of 
      clinically actionable mutations in KRAS, NRAS, and BRAF directly from FFPE tissue 
      sections.
CI  - (c) 2018 American Association for Clinical Chemistry.
FAU - Al-Turkmani, M Rabie
AU  - Al-Turkmani MR
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center and Geisel School of Medicine at Dartmouth, Hanover, NH.
FAU - Godwin, Kelley N
AU  - Godwin KN
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center and Geisel School of Medicine at Dartmouth, Hanover, NH.
FAU - Peterson, Jason D
AU  - Peterson JD
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center and Geisel School of Medicine at Dartmouth, Hanover, NH.
FAU - Tsongalis, Gregory J
AU  - Tsongalis GJ
AD  - Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical 
      Center and Geisel School of Medicine at Dartmouth, Hanover, NH.
LA  - eng
PT  - Journal Article
PL  - England
TA  - J Appl Lab Med
JT  - The journal of applied laboratory medicine
JID - 101693884
SB  - IM
EDAT- 2018/09/01 00:00
MHDA- 2018/09/01 00:01
CRDT- 2021/02/27 01:01
PHST- 2018/02/13 00:00 [received]
PHST- 2018/03/26 00:00 [accepted]
PHST- 2021/02/27 01:01 [entrez]
PHST- 2018/09/01 00:00 [pubmed]
PHST- 2018/09/01 00:01 [medline]
AID - 5603109 [pii]
AID - 10.1373/jalm.2018.026278 [doi]
PST - ppublish
SO  - J Appl Lab Med. 2018 Sep 1;3(2):178-184. doi: 10.1373/jalm.2018.026278.