PMID- 34371012
OWN - NLM
STAT- MEDLINE
DCOM- 20211222
LR  - 20211222
IS  - 1096-0945 (Electronic)
IS  - 0014-4800 (Linking)
VI  - 122
DP  - 2021 Oct
TI  - Determination of COL1A1-PDGFB breakpoints by next-generation sequencing in the 
      molecular diagnosis of dermatofibrosarcoma protuberans.
PG  - 104672
LID - S0014-4800(21)00071-X [pii]
LID - 10.1016/j.yexmp.2021.104672 [doi]
AB  - OBJECTIVE: In most cases, dermatofibrosarcoma protuberans (DFSP) is characterized 
      by the chromosomal translocation t (17; 22) (q22; q13) that leads to a fusion of 
      collagen type 1 alpha 1 (COL1A1) and platelet-derived growth factor beta chain 
      (PDGFB). Recently, next-generation sequencing (NGS) has been reported to detect 
      fusion transcripts in some malignancies. Therefore, the present study aimed to 
      evaluate the utility of the targeted NGS in detecting the COL1A1-PDGFB fusion in 
      patients with DFSP. METHODS: We designed a targeted DNA capture panel to tile 
      along the fusion regions, including exon, intron, and untranslated regions of the 
      COL1A1 and PDGFB. A cohort of 18 DNA samples extracted from formalin-fixed, 
      paraffin-embedded tissues was used to evaluate the targeted NGS. The results were 
      compared with that of fluorescence in situ hybridization (FISH). RESULTS: The 
      COL1A1-PDGFB fusion was identified in 13 of 18 cases (72.2%) by targeted NGS 
      assay. PDGFB breakpoints were constantly found in exon 2, while breakpoints in 
      COL1A1 varied from exon 15 to 46. Of these 18 cases assayed by FISH, 12 (66.7%) 
      exhibited COL1A1-PDGFB fusion signals. One case (P9), which was FISH-negative, 
      was demonstrated with the fusion by targeted NGS and validated by PCR and Sanger 
      sequencing. The targeted NGS results showed a high concordance with the results 
      of the FISH assay (94.4%). CONCLUSION: Our study reported a targeted NGS assay 
      for detecting the breakpoints of the COL1A1-PDGFB fusion gene, which can be 
      implemented in diagnosing patients with DFSP.
CI  - Copyright (c) 2021. Published by Elsevier Inc.
FAU - Zhu, Ruizheng
AU  - Zhu R
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Yan, Jianna
AU  - Yan J
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Li, Benshang
AU  - Li B
AD  - Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, 
      Department of Hematology and Oncology, Shanghai Children's Medical Center, 
      Shanghai Jiao Tong University School of Medicine, Shanghai, China.
FAU - Tan, Fei
AU  - Tan F
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Yan, Wannian
AU  - Yan W
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Shen, Juan
AU  - Shen J
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Fan, Lingzhi
AU  - Fan L
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Ding, Lixia
AU  - Ding L
AD  - Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, 
      Department of Hematology and Oncology, Shanghai Children's Medical Center, 
      Shanghai Jiao Tong University School of Medicine, Shanghai, China.
FAU - Chen, Yuchong
AU  - Chen Y
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Tang, Yichen
AU  - Tang Y
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China.
FAU - Liu, Yeqiang
AU  - Liu Y
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China. Electronic address: 1500156@tongji.edu.cn.
FAU - Bai, Yun
AU  - Bai Y
AD  - Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, 
      China. Electronic address: baiyun@chgc.sh.cn.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210808
PL  - Netherlands
TA  - Exp Mol Pathol
JT  - Experimental and molecular pathology
JID - 0370711
RN  - 0 (COL1A1 protein, human)
RN  - 0 (Collagen Type I, alpha 1 Chain)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins c-sis)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Chromosome Breakpoints
MH  - Collagen Type I, alpha 1 Chain/*genetics
MH  - Dermatofibrosarcoma/*diagnosis/genetics/pathology
MH  - Female
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/genetics
MH  - *Pathology, Molecular
MH  - Proto-Oncogene Proteins c-sis/*genetics
MH  - Translocation, Genetic
MH  - Young Adult
OTO - NOTNLM
OT  - Breakpoint
OT  - COL1A1-PDGFB fusion gene
OT  - Dermatofibrosarcoma protuberans
OT  - Next-generation sequencing
EDAT- 2021/08/10 06:00
MHDA- 2021/12/24 06:00
CRDT- 2021/08/09 20:09
PHST- 2021/03/29 00:00 [received]
PHST- 2021/07/31 00:00 [revised]
PHST- 2021/08/03 00:00 [accepted]
PHST- 2021/08/10 06:00 [pubmed]
PHST- 2021/12/24 06:00 [medline]
PHST- 2021/08/09 20:09 [entrez]
AID - S0014-4800(21)00071-X [pii]
AID - 10.1016/j.yexmp.2021.104672 [doi]
PST - ppublish
SO  - Exp Mol Pathol. 2021 Oct;122:104672. doi: 10.1016/j.yexmp.2021.104672. Epub 2021 
      Aug 8.