PMID- 35171326
OWN - NLM
STAT- MEDLINE
DCOM- 20220803
LR  - 20220803
IS  - 1432-2307 (Electronic)
IS  - 0945-6317 (Linking)
VI  - 481
IP  - 2
DP  - 2022 Aug
TI  - Coamplification of 12q15 and 12p13 and homozygous CDKN2A/2B deletion: synergistic 
      role of fibrosarcomatous transformation in dermatofibrosarcoma protuberans with a 
      cryptic COL1A1-PDGFB fusion.
PG  - 313-319
LID - 10.1007/s00428-022-03297-5 [doi]
AB  - Dermatofibrosarcoma protuberans (DFSP) is characterized by collagen type I alpha 
      1 chain-platelet-derived growth factor B chain (COL1A1-PDGFB) fusion. We present 
      a case of fibrosarcomatous DFSP with lung metastasis in a 53-year-old man. 
      Histologically, the primary and metastatic tumors were composed of high-grade 
      fibrosarcomatous component with varying myxoid changes, while only a small focus 
      of the classic DFSP element was identified in the primary lesion. No evidence of 
      COL1A1-PDGFB fusion was identified by routine fluorescence in situ hybridization 
      (FISH). Subsequent next-generation sequencing and COL1A1 break-apart FISH 
      identified the fusion. In addition, coamplification of 12q15 and 12p13, along 
      with CDKN2A/2B deletion, was confirmed to be limited to the fibrosarcomatous 
      component. The current case is a novel FS-DFSP with cryptic COL1A1-PDGFB fusion. 
      This is the first published example of DFSP harboring coamplification of 12q and 
      12p sequences. More importantly, the genetic aberrations restricted to the 
      fibrosarcomatous component indicated a synergistic role of higher-grade 
      progression.
CI  - (c) 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Lu, Yang
AU  - Lu Y
AD  - Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, 
      Chengdu, 610041, Sichuan, China.
FAU - Li, Tao
AU  - Li T
AD  - Department of Pathology, Pujiang County People's Hospital, Chengdu, China.
FAU - Chen, Min
AU  - Chen M
AD  - Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, 
      Chengdu, 610041, Sichuan, China.
FAU - Peng, Heng
AU  - Peng H
AD  - Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, 
      Chengdu, 610041, Sichuan, China.
FAU - Du, Tianhai
AU  - Du T
AD  - Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, 
      Chengdu, 610041, Sichuan, China.
FAU - Qiu, Yan
AU  - Qiu Y
AD  - Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, 
      Chengdu, 610041, Sichuan, China.
FAU - Zhang, Hongying
AU  - Zhang H
AUID- ORCID: 0000-0003-4748-4121
AD  - Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, 
      Chengdu, 610041, Sichuan, China. hy_zhang@scu.edu.cn.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20220216
PL  - Germany
TA  - Virchows Arch
JT  - Virchows Archiv : an international journal of pathology
JID - 9423843
RN  - 0 (CDKN2A protein, human)
RN  - 0 (Collagen Type I, alpha 1 Chain)
RN  - 0 (Cyclin-Dependent Kinase Inhibitor p16)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins c-sis)
SB  - IM
MH  - Collagen Type I, alpha 1 Chain
MH  - Cyclin-Dependent Kinase Inhibitor p16/genetics
MH  - *Dermatofibrosarcoma/genetics/metabolism/pathology
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Oncogene Proteins, Fusion/genetics
MH  - Proto-Oncogene Proteins c-sis/genetics
MH  - *Skin Neoplasms/pathology
OTO - NOTNLM
OT  - 12p amplification
OT  - COL1A1-PDGFB fusion
OT  - Dermatofibrosarcoma protuberans
OT  - Fibrosarcomatous transformation
OT  - MDM2 amplification
EDAT- 2022/02/17 06:00
MHDA- 2022/08/04 06:00
CRDT- 2022/02/16 12:16
PHST- 2021/11/22 00:00 [received]
PHST- 2022/02/04 00:00 [accepted]
PHST- 2022/01/31 00:00 [revised]
PHST- 2022/02/17 06:00 [pubmed]
PHST- 2022/08/04 06:00 [medline]
PHST- 2022/02/16 12:16 [entrez]
AID - 10.1007/s00428-022-03297-5 [pii]
AID - 10.1007/s00428-022-03297-5 [doi]
PST - ppublish
SO  - Virchows Arch. 2022 Aug;481(2):313-319. doi: 10.1007/s00428-022-03297-5. Epub 
      2022 Feb 16.