PMID- 30139549
OWN - NLM
STAT- MEDLINE
DCOM- 20190912
LR  - 20190912
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Linking)
VI  - 20
IP  - 5
DP  - 2018 Sep
TI  - Molecular Analysis of Gene Fusions in Bone and Soft Tissue Tumors by Anchored 
      Multiplex PCR-Based Targeted Next-Generation Sequencing.
PG  - 653-663
LID - S1525-1578(18)30058-8 [pii]
LID - 10.1016/j.jmoldx.2018.05.007 [doi]
AB  - Molecular assays for translocation detection in bone and soft tissue tumors have 
      gradually been incorporated into routine diagnostics. However, conventional 
      methods such as fluorescence in situ hybridization (FISH) and reverse 
      transcriptase-PCR come with several drawbacks. In this study, the applicability 
      of a novel technique termed anchored multiplex PCR (AMP) for next-generation 
      sequencing (NGS), using the Archer FusionPlex Sarcoma kit, aimed at 26 genes, was 
      evaluated and compared with FISH and reverse transcriptase-PCR. In case of 
      discrepant results, further analysis occurred with a third independent technique. 
      Eighty-one samples were subjected to AMP-based targeted NGS, and 86% (n = 70) 
      were successfully conducted and were either fusion positive (n = 48) or fusion 
      negative, but met all criteria for good quality (n = 22). A concordance of 90% 
      was found between NGS and conventional techniques. AMP-based targeted NGS showed 
      superior results, as in four cases reverse transcriptase-PCR and FISH were false 
      negative. Moreover, because the assay targets one partner of a gene fusion, novel 
      or rare fusion partners can be identified. Indeed, it revealed COL1A1 and SEC31A 
      as novel fusion partners for USP6 in nodular fasciitis. Despite the fact that 
      fusions involving genes outside the selectively captured region cannot be 
      detected and false-negative results due to poor quality samples can be 
      encountered, this method has demonstrated excellent diagnostic utility for 
      translocation detection in sarcomas.
CI  - Copyright (c) 2018 American Society for Investigative Pathology and the Association 
      for Molecular Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Lam, Suk Wai
AU  - Lam SW
AD  - Department of Pathology, Leiden University Medical Center, Leiden, the 
      Netherlands.
FAU - Cleton-Jansen, Anne-Marie
AU  - Cleton-Jansen AM
AD  - Department of Pathology, Leiden University Medical Center, Leiden, the 
      Netherlands.
FAU - Cleven, Arjen H G
AU  - Cleven AHG
AD  - Department of Pathology, Leiden University Medical Center, Leiden, the 
      Netherlands.
FAU - Ruano, Dina
AU  - Ruano D
AD  - Department of Pathology, Leiden University Medical Center, Leiden, the 
      Netherlands.
FAU - van Wezel, Tom
AU  - van Wezel T
AD  - Department of Pathology, Leiden University Medical Center, Leiden, the 
      Netherlands.
FAU - Szuhai, Karoly
AU  - Szuhai K
AD  - Department of Cell and Chemical Biology, Leiden University Medical Center, 
      Leiden, the Netherlands.
FAU - Bovee, Judith V M G
AU  - Bovee JVMG
AD  - Department of Pathology, Leiden University Medical Center, Leiden, the 
      Netherlands. Electronic address: j.v.m.g.bovee@lumc.nl.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180820
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Base Sequence
MH  - Bone Neoplasms/*genetics
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - Male
MH  - Multiplex Polymerase Chain Reaction/*methods
MH  - Oncogene Fusion/*genetics
MH  - Soft Tissue Neoplasms/*genetics
MH  - Young Adult
EDAT- 2018/08/25 06:00
MHDA- 2019/09/13 06:00
CRDT- 2018/08/25 06:00
PHST- 2018/02/06 00:00 [received]
PHST- 2018/05/03 00:00 [revised]
PHST- 2018/05/15 00:00 [accepted]
PHST- 2018/08/25 06:00 [entrez]
PHST- 2018/08/25 06:00 [pubmed]
PHST- 2019/09/13 06:00 [medline]
AID - S1525-1578(18)30058-8 [pii]
AID - 10.1016/j.jmoldx.2018.05.007 [doi]
PST - ppublish
SO  - J Mol Diagn. 2018 Sep;20(5):653-663. doi: 10.1016/j.jmoldx.2018.05.007. Epub 2018 
      Aug 20.