PMID- 35402176
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220413
IS  - 2219-6803 (Electronic)
IS  - 2218-676X (Print)
IS  - 2218-676X (Linking)
VI  - 11
IP  - 3
DP  - 2022 Mar
TI  - Molecular profiling of gene fusions in soft tissue sarcomas by Ion AmpliSeq(TM): 
      a study of 35 cases.
PG  - 488-499
LID - 10.21037/tcr-22-70 [doi]
AB  - BACKGROUND: The accurate diagnosis of sarcoma can be difficult as there are over 
      70 different subtypes. While molecular profiling in soft tissue sarcoma (STS) has 
      gradually been incorporated into routine diagnostics, conventional methods such 
      as fluorescence in situ hybridization (FISH), reverse transcriptase-PCR (RT-PCR), 
      and Sanger sequencing have several drawbacks. By allowing simultaneous analysis 
      of multiple targets and increasing sequencing depth to achieve ultra-sensitivity, 
      next-generation sequencing (NGS) can not only detect common genetic abnormalities 
      without prior assumptions but also identify uncommon or even new variants. 
      METHODS: In this study, the applicability of NGS in assessing STS using the Ion 
      Torrent Proton was evaluated and compared with other methods. A cohort of 35 
      tissue specimens from STS patients, including alveolar soft-part sarcoma (ASPS), 
      Ewing's sarcoma (ES), synovial sarcoma (SS), dermatofibrosarcoma protuberans 
      (DFSP), and myxoid liposarcoma (MLPS) patients, were subjected to NGS by an Ion 
      AmpliSeqTM Custom panel. RESULTS: A proportion of 97.14% (34/35) were 
      successfully conducted to detect gene fusion positive events and met all criteria 
      for good quality. The concordance between NGS and conventional techniques was 
      94.12% (32/34). NGS also showed superior results, as Sanger sequencing and FISH 
      in two cases were false negatives, demonstrating the excellent diagnostic utility 
      of NGS for translocation detection in STS. CONCLUSIONS: The results in this study 
      show the potential for NGS to aid in diagnosis and clinical monitoring of STS and 
      warrant additional studies in larger cohorts.
CI  - 2022 Translational Cancer Research. All rights reserved.
FAU - Wei, Rong
AU  - Wei R
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Gao, Feng
AU  - Gao F
AD  - Department of Orthopedics, Sixth Clinical Medical College, Shanxi Medical 
      University, Taiyuan, China.
FAU - Zeng, Zixin
AU  - Zeng Z
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Gui, Ziwei
AU  - Gui Z
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Shang, Yangwei
AU  - Shang Y
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Shen, Ningning
AU  - Shen N
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Wang, Ziyue
AU  - Wang Z
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Han, Weixia
AU  - Han W
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Shen, Honghong
AU  - Shen H
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Li, Xin
AU  - Li X
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - E, Li
AU  - E L
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Ma, Wenxia
AU  - Ma W
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
FAU - Wang, Chen
AU  - Wang C
AD  - Department of Pathology, Second Hospital of Shanxi Medical University, Taiyuan, 
      China.
LA  - eng
PT  - Journal Article
PL  - China
TA  - Transl Cancer Res
JT  - Translational cancer research
JID - 101585958
PMC - PMC8990829
OTO - NOTNLM
OT  - Soft tissue sarcoma (STS)
OT  - fluorescence in situ hybridization (FISH)
OT  - gene fusion
OT  - molecular profiling
OT  - next generation sequencing
COIS- Conflicts of Interest: All authors have completed the ICMJE uniform disclosure 
      form (available at 
      https://tcr.amegroups.com/article/view/10.21037/tcr-22-70/coif). All authors 
      report that the study received technical support from Shanghai Tongshu 
      Biotechnology Co., Ltd. The authors have no other conflicts of interest to 
      declare.
EDAT- 2022/04/12 06:00
MHDA- 2022/04/12 06:01
PMCR- 2022/03/01
CRDT- 2022/04/11 05:30
PHST- 2021/12/03 00:00 [received]
PHST- 2022/03/14 00:00 [accepted]
PHST- 2022/04/11 05:30 [entrez]
PHST- 2022/04/12 06:00 [pubmed]
PHST- 2022/04/12 06:01 [medline]
PHST- 2022/03/01 00:00 [pmc-release]
AID - tcr-11-03-488 [pii]
AID - 10.21037/tcr-22-70 [doi]
PST - ppublish
SO  - Transl Cancer Res. 2022 Mar;11(3):488-499. doi: 10.21037/tcr-22-70.