PMID- 27259007
OWN - NLM
STAT- MEDLINE
DCOM- 20170726
LR  - 20220419
IS  - 1532-0979 (Electronic)
IS  - 0147-5185 (Linking)
VI  - 40
IP  - 8
DP  - 2016 Aug
TI  - ETV6-NTRK3 Is Expressed in a Subset of ALK-Negative Inflammatory Myofibroblastic 
      Tumors.
PG  - 1051-61
LID - 10.1097/PAS.0000000000000677 [doi]
AB  - Inflammatory myofibroblastic tumor (IMT) is a genetically heterogenous tumor of 
      the viscera and soft tissues, with multiple molecular features having been 
      demonstrated in this tumor type. About 50% of cases harbor an anaplastic lymphoma 
      kinase (ALK) gene rearrangement, and recent studies have described novel fusions 
      involving the ROS1 and PDGFRbeta genes in a subset of ALK-negative cases. However, 
      the molecular features of the remaining subset of cases are not yet defined. We 
      report a case of a large, highly aggressive IMT of the lung in a 17-year-old 
      girl. This case was molecularly characterized through whole-genome and 
      transcriptome sequencing. Subsequently, we investigated a cohort of 15 
      ALK-negative IMTs of various anatomic sites. All cases were screened using 
      fluorescence in situ hybridization (FISH) for rearrangement of the ETV6 locus and 
      with reverse transcription polymerase chain reaction (RT-PCR) for the ETV6-NTRK3 
      fusion transcript. Whole-genome and transcriptome sequencing revealed an 
      ETV6-NTRK3 fusion transcript in our index case. This was confirmed by FISH 
      studies for ETV6 gene rearrangement, as well as by RT-PCR. In addition, 2 
      additional cases in our cohort demonstrated ETV6 rearrangement by FISH. The 
      presence of ETV6-NTRK3 fusion transcript was demonstrated by RT-PCR in one of 
      these additional cases. In summary, we demonstrate the expression of the 
      ETV6-NTRK3 fusion oncogene in a small subset of IMTs, lending further support to 
      the role of oncogenic tyrosine kinases in the pathophysiology of this tumor type. 
      Our data also further expand the growing spectrum of tumor types expressing the 
      ETV6-NTRK3 fusion.
FAU - Alassiri, Ali H
AU  - Alassiri AH
AD  - *Department of Pathology, Vancouver General Hospital  section signGenome Sciences Center 
       parallelBritish Columbia Cancer Agency  paragraph signBritish Columbia Children's Hospital #Department 
      of Pathology, University of British Columbia, Vancouver, BC **Department of 
      Pathology, Royal Alexandra Hospital, Edmonton, AB, Canada daggerDepartment of 
      Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia double daggerDepartment of 
      Pathology, Kuwait University, Kuwait.
FAU - Ali, Rola H
AU  - Ali RH
FAU - Shen, Yaoqing
AU  - Shen Y
FAU - Lum, Amy
AU  - Lum A
FAU - Strahlendorf, Caron
AU  - Strahlendorf C
FAU - Deyell, Rebecca
AU  - Deyell R
FAU - Rassekh, Rod
AU  - Rassekh R
FAU - Sorensen, Poul H
AU  - Sorensen PH
FAU - Laskin, Janessa
AU  - Laskin J
FAU - Marra, Marco
AU  - Marra M
FAU - Yip, Stephen
AU  - Yip S
FAU - Lee, Cheng-Han
AU  - Lee CH
FAU - Ng, Tony L
AU  - Ng TL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (ETV6-NTRK3 fusion protein, human)
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 (Receptor Protein-Tyrosine Kinases)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Anaplastic Lymphoma Kinase
MH  - Female
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Lung Neoplasms/*genetics
MH  - Male
MH  - Middle Aged
MH  - Myofibroma/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Receptor Protein-Tyrosine Kinases
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Young Adult
EDAT- 2016/06/04 06:00
MHDA- 2017/07/27 06:00
CRDT- 2016/06/04 06:00
PHST- 2016/06/04 06:00 [entrez]
PHST- 2016/06/04 06:00 [pubmed]
PHST- 2017/07/27 06:00 [medline]
AID - 10.1097/PAS.0000000000000677 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2016 Aug;40(8):1051-61. doi: 10.1097/PAS.0000000000000677.