PMID- 36617900
OWN - NLM
STAT- MEDLINE
DCOM- 20230111
LR  - 20230111
IS  - 0529-5807 (Print)
IS  - 0529-5807 (Linking)
VI  - 52
IP  - 1
DP  - 2023 Jan 8
TI  - [Cryptic COL1A1-PDGFB fusion in dermatofibrosarcoma protuberans: a 
      clinicopathological and genetic analysis].
PG  - 13-18
LID - 10.3760/cma.j.cn112151-20221006-00832 [doi]
AB  - Objective: To investigate the clinicopathological and cytogenetic features of 
      cryptic COL1A1-PDGFB fusion dermatofibrosarcoma protuberans (CC-DFSP). Methods: 
      Three cases of CC-DFSP diagnosed in West China Hospital, Sichuan University, 
      Chengdu, China from January 2021 to September 2021 were studied. 
      Immunohistochemistry for CD34 and other markers, fluorescence in situ 
      hybridization (FISH) for PDGFB, COL1A1-PDGFB and COL1A1, next-generation 
      sequencing (NGS), reverse-transcriptase polymerase chain reaction (RT-PCR) and 
      Sanger sequencing were performed. Results: There were three cases of CC-DFSP, 
      including two females and one male. The patients were 29, 44 and 32 years old, 
      respectively. The sites were abdominal wall, caruncle and scapula. 
      Microscopically, they were poorly circumscribed. The spindle cells of the tumors 
      infiltrated into the whole dermis or subcutaneous tissues, typically arranging in 
      a storiform pattern. Immunohistochemically, the neoplastic cells exhibited 
      diffuse CD34 expression, but were negative for S-100, SMA, and Myogenin. Loss of 
      H3K27me3 was not observed in the tumor cells. The Ki-67 index was 10%-15%. The 3 
      cases were all negative for PDGFB rearrangement and COL1A1-PDGFB fusion, whereas 
      showing unbalanced rearrangement for COL1A1. Case 1 showed a COL1A1 (exon 
      31)-PDGFB (exon 2) fusion using NGS, which was further validated through RT-PCR 
      and Sanger sequencing. All patients underwent extended surgical resection. Except 
      for case 3 with recurrence 2 years after surgical resection, the other 2 cases 
      showed no recurrence or metastasis during the follow-up. Conclusions: FISH has 
      shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and 
      widely applied in clinical detection. However, for cases with negative routine 
      FISH screening that were highly suspicious for DFSPs, supplementary NGS or at 
      least COL1A1 break-apart FISH screening could be helpful to identify cryptic 
      COL1A1-PDGFB fusions or other variant fusions.
FAU - Chen, M
AU  - Chen M
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Chen, Y M
AU  - Chen YM
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Lu, Y
AU  - Lu Y
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - He, X
AU  - He X
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Peng, H
AU  - Peng H
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
FAU - Zhang, H Y
AU  - Zhang HY
AD  - Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, 
      China.
LA  - chi
GR  - 81972520/National Natural Science Foundation of China/
GR  - 2018HXFH011/The 1.3.5 Project for Disciplines of Excellence-Clinical Research 
      Incubation Project, West China Hospital, Sichuan University/
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Bing Li Xue Za Zhi
JT  - Zhonghua bing li xue za zhi = Chinese journal of pathology
JID - 0005331
RN  - 0 (Collagen Type I, alpha 1 Chain)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins c-sis)
SB  - IM
MH  - Female
MH  - Humans
MH  - Male
MH  - Collagen Type I, alpha 1 Chain
MH  - *Dermatofibrosarcoma/genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Oncogene Proteins, Fusion/genetics
MH  - Proto-Oncogene Proteins c-sis/genetics
MH  - *Skin Neoplasms/pathology
MH  - Adult
EDAT- 2023/01/10 06:00
MHDA- 2023/01/11 06:00
CRDT- 2023/01/09 02:55
PHST- 2023/01/09 02:55 [entrez]
PHST- 2023/01/10 06:00 [pubmed]
PHST- 2023/01/11 06:00 [medline]
AID - 10.3760/cma.j.cn112151-20221006-00832 [doi]
PST - ppublish
SO  - Zhonghua Bing Li Xue Za Zhi. 2023 Jan 8;52(1):13-18. doi: 
      10.3760/cma.j.cn112151-20221006-00832.