PMID- 28970558
OWN - NLM
STAT- MEDLINE
DCOM- 20190716
LR  - 20190716
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 7
IP  - 1
DP  - 2017 Oct 2
TI  - Detection of known and novel ALK fusion transcripts in lung cancer patients using 
      next-generation sequencing approaches.
PG  - 12510
LID - 10.1038/s41598-017-12679-8 [doi]
LID - 12510
AB  - Rearrangements of the anaplastic lymphoma kinase (ALK) gene in non-small cell 
      lung cancer (NSCLC) represent a novel molecular target in a small subset of 
      tumors. Although ALK rearrangements are usually assessed by immunohistochemistry 
      (IHC) and fluorescence in situ hybridization (FISH), molecular approaches have 
      recently emerged as relevant alternatives in routine laboratories. Here, we 
      evaluated the use of two different amplicon-based next-generation sequencing 
      (NGS) methods (AmpliSeq and Archer((R))FusionPlex((R))) to detect ALK rearrangements, 
      and compared these with IHC and FISH. A total of 1128 NSCLC specimens were 
      screened using conventional analyses, and a subset of 37 (15 ALK-positive, and 22 
      ALK-negative) samples were selected for NGS assays. Although AmpliSeq correctly 
      detected 25/37 (67.6%) samples, 1/37 (2.7%) and 11/37 (29.7%) specimens were 
      discordant and uncertain, respectively, requiring further validation. In 
      contrast, Archer((R))FusionPlex((R)) accurately classified all samples and allowed 
      the correct identification of one rare DCTN1-ALK fusion, one novel CLIP1-ALK 
      fusion, and one novel GCC2-ALK transcript. Of particular interest, two out of 
      three patients harboring these singular rearrangements were treated with and 
      sensitive to crizotinib. These data show that Archer((R))FusionPlex((R)) may provide 
      an effective and accurate alternative to FISH testing for the detection of known 
      and novel ALK rearrangements in clinical diagnostic settings.
FAU - Vendrell, Julie A
AU  - Vendrell JA
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 
      Montpellier, Universite de Montpellier, Montpellier, France.
FAU - Taviaux, Sylvie
AU  - Taviaux S
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 
      Montpellier, Universite de Montpellier, Montpellier, France.
FAU - Beganton, Benoit
AU  - Beganton B
AD  - Institut de Recherche en Cancerologie de Montpellier (IRCM), INSERM U1194, 
      Universite de Montpellier, Institut du Cancer de Montpellier (ICM), Montpellier, 
      France.
FAU - Godreuil, Sylvain
AU  - Godreuil S
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Bacteriology, 
      Universite de Montpellier, Montpellier, France.
FAU - Audran, Patricia
AU  - Audran P
AD  - Institut du Cancer de Montpellier (ICM), Department of Biopathology, Montpellier, 
      France.
FAU - Grand, David
AU  - Grand D
AD  - Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU 
      de Toulouse, Toulouse, France.
FAU - Clermont, Estelle
AU  - Clermont E
AD  - Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU 
      de Toulouse, Toulouse, France.
FAU - Serre, Isabelle
AU  - Serre I
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 
      Montpellier, Universite de Montpellier, Montpellier, France.
FAU - Szablewski, Vanessa
AU  - Szablewski V
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 
      Montpellier, Universite de Montpellier, Montpellier, France.
FAU - Coopman, Peter
AU  - Coopman P
AD  - Institut de Recherche en Cancerologie de Montpellier (IRCM), INSERM U1194, 
      Universite de Montpellier, Institut du Cancer de Montpellier (ICM), Montpellier, 
      France.
FAU - Mazieres, Julien
AU  - Mazieres J
AD  - Thoracic Oncology Department, Larrey Hospital, University Hospital of Toulouse, 
      Toulouse, France.
FAU - Costes, Valerie
AU  - Costes V
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 
      Montpellier, Universite de Montpellier, Montpellier, France.
FAU - Pujol, Jean-Louis
AU  - Pujol JL
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Thoracic Oncology, 
      Universite de Montpellier, Montpellier, France.
FAU - Brousset, Pierre
AU  - Brousset P
AD  - Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU 
      de Toulouse, Toulouse, France.
AD  - Laboratoire d'excellence Labex TOUCAN, Toulouse, France.
FAU - Rouquette, Isabelle
AU  - Rouquette I
AD  - Department of Pathology, Institut Universitaire du Cancer Toulouse Oncopole, CHU 
      de Toulouse, Toulouse, France.
FAU - Solassol, Jerome
AU  - Solassol J
AD  - CHU Montpellier, Arnaud de Villeneuve Hospital, Department of Pathology, 
      Montpellier, Universite de Montpellier, Montpellier, France. 
      j-solassol@chu-montpellier.fr.
AD  - Institut de Recherche en Cancerologie de Montpellier (IRCM), INSERM U1194, 
      Universite de Montpellier, Institut du Cancer de Montpellier (ICM), Montpellier, 
      France. j-solassol@chu-montpellier.fr.
LA  - eng
PT  - Journal Article
DEP - 20171002
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 0 (Antineoplastic Agents)
RN  - 0 (DCTN1 protein, human)
RN  - 0 (Dynactin Complex)
RN  - 0 (EML4-ALK fusion protein, human)
RN  - 0 (GCC2 protein, human)
RN  - 0 (Golgi Matrix Proteins)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA, Messenger)
RN  - 53AH36668S (Crizotinib)
RN  - EC 2.7.10.1 (ALK protein, human)
RN  - EC 2.7.10.1 (Anaplastic Lymphoma Kinase)
SB  - IM
MH  - Adenocarcinoma of Lung/drug therapy/*genetics/metabolism/surgery
MH  - Aged
MH  - Anaplastic Lymphoma Kinase/*genetics/metabolism
MH  - Antineoplastic Agents/therapeutic use
MH  - Carcinoma, Non-Small-Cell Lung/drug therapy/*genetics/metabolism/surgery
MH  - Case-Control Studies
MH  - Crizotinib/therapeutic use
MH  - Dynactin Complex/genetics/metabolism
MH  - Female
MH  - Gene Expression
MH  - Golgi Matrix Proteins/genetics/metabolism
MH  - High-Throughput Nucleotide Sequencing/instrumentation/*methods
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lung Neoplasms/drug therapy/*genetics/metabolism/surgery
MH  - Male
MH  - Microtubule-Associated Proteins/genetics/metabolism
MH  - Middle Aged
MH  - Neoplasm Staging
MH  - Oncogene Proteins, Fusion/*genetics/metabolism
MH  - RNA, Messenger/genetics/metabolism
PMC - PMC5624911
COIS- The authors declare that they have no competing interests.
EDAT- 2017/10/04 06:00
MHDA- 2019/07/17 06:00
PMCR- 2017/10/02
CRDT- 2017/10/04 06:00
PHST- 2017/06/09 00:00 [received]
PHST- 2017/09/04 00:00 [accepted]
PHST- 2017/10/04 06:00 [entrez]
PHST- 2017/10/04 06:00 [pubmed]
PHST- 2019/07/17 06:00 [medline]
PHST- 2017/10/02 00:00 [pmc-release]
AID - 10.1038/s41598-017-12679-8 [pii]
AID - 12679 [pii]
AID - 10.1038/s41598-017-12679-8 [doi]
PST - epublish
SO  - Sci Rep. 2017 Oct 2;7(1):12510. doi: 10.1038/s41598-017-12679-8.