PMID- 37016743
OWN - NLM
STAT- MEDLINE
DCOM- 20231201
LR  - 20231201
IS  - 1940-2465 (Electronic)
IS  - 1066-8969 (Linking)
VI  - 31
IP  - 8
DP  - 2023 Dec
TI  - Platelet-Derived Growth Factor-D Fusion-Positive Dermatofibrosarcoma Protuberans: 
      Case Report of an Atypical Breast Mass and Literature Review.
PG  - 1610-1617
LID - 10.1177/10668969231160261 [doi]
AB  - Dermatofibrosarcoma protuberans (DFSP) is a rare, CD34+ mesenchymal neoplasm that 
      classically involves the dermis. A COL1A1::PDGFB t(17;22) translocation is 
      present in 91.4% to 96% of cases, resulting in aberrant proliferation due to 
      tyrosine kinase hyperactivity. Here, we present a postmenopausal woman with a 
      CD34-positive spindle cell neoplasm of the breast without cutaneous involvement, 
      lacking muscle marker expression, STAT6 expression, and 13q14 deletion by 
      fluorescence in situ hybridization (FISH). Although the classic PDGFB 
      translocation was not detected by FISH, the overall features were highly 
      suspicious for DFSP. Subsequent RNA-based next-generation sequencing revealed an 
      EMILIN2::PDGFD fusion. A literature review showed that PDGFD fusions can be 
      detected in up to 55% PDGFB FISH negative cases, with EMILIN2::PDGFD fusion 
      highly associated with fibrosarcomatous transformation. This holds important 
      diagnostic and prognostic information as fibrosarcomatous-DFSP is associated with 
      higher recurrence and metastatic potential. The tumor was completely resected 
      with clear margins, showed no fibrosarcomatous areas, and no evidence of 
      recurrence is documented 2 years since resection. This review and case report 
      adds to the literature regarding PDGFD-translocation positive DFSP as a 
      differential diagnosis of CD34-positive spindle cell tumors of the breast, while 
      emphasizing the prognostic importance of EMILIN2::PDGFD fusions.
FAU - Chandler, Blake
AU  - Chandler B
AD  - University of Texas Health Long School of Medicine, San Antonio, TX, USA.
FAU - Jing, Frank
AU  - Jing F
AUID- ORCID: 0000-0002-0654-9163
AD  - University of Texas Health Long School of Medicine, San Antonio, TX, USA.
FAU - David, Marjorie Parker
AU  - David MP
AD  - Department of Pathology and Laboratory Medicine, University of Texas Health, San 
      Antonio, TX, USA.
FAU - Nazarullah, Alia
AU  - Nazarullah A
AUID- ORCID: 0000-0001-7954-6740
AD  - Department of Pathology and Laboratory Medicine, University of Texas Health, San 
      Antonio, TX, USA.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
DEP - 20230404
PL  - United States
TA  - Int J Surg Pathol
JT  - International journal of surgical pathology
JID - 9314927
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Proteins c-sis)
RN  - 0 (PDGFD protein, human)
SB  - IM
MH  - Female
MH  - Humans
MH  - *Dermatofibrosarcoma/diagnosis/genetics/surgery
MH  - In Situ Hybridization, Fluorescence
MH  - Oncogene Proteins, Fusion/genetics/metabolism
MH  - Proto-Oncogene Proteins c-sis/genetics
MH  - *Skin Neoplasms/diagnosis/genetics/surgery
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - breast
OT  - molecular pathology
OT  - soft tissue
COIS- Declaration of Conflicting InterestsThe author(s) declared no potential conflicts 
      of interest with respect to the research, authorship, and/or publication of this 
      article.
EDAT- 2023/04/06 06:00
MHDA- 2023/11/02 12:45
CRDT- 2023/04/05 02:22
PHST- 2023/11/02 12:45 [medline]
PHST- 2023/04/06 06:00 [pubmed]
PHST- 2023/04/05 02:22 [entrez]
AID - 10.1177/10668969231160261 [doi]
PST - ppublish
SO  - Int J Surg Pathol. 2023 Dec;31(8):1610-1617. doi: 10.1177/10668969231160261. Epub 
      2023 Apr 4.