PMID- 30014607
OWN - NLM
STAT- MEDLINE
DCOM- 20181024
LR  - 20200225
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 57
IP  - 9
DP  - 2018 Sep
TI  - Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and 
      apparent predilection for breast.
PG  - 437-445
LID - 10.1002/gcc.22663 [doi]
AB  - Dermatofibrosarcoma protuberans is a locally aggressive superficial mesenchymal 
      neoplasm. It typically occurs in adulthood, and has been reported to have a 
      slight male predilection. Tumors have a characteristic histopathologic 
      appearance, including: storiform architecture, infiltrative "honeycomb" growth 
      within subcutaneous adipose tissue, and immunoreactivity for CD34. Virtually all 
      molecularly characterized cases to date have been found to harbor a COL1A1-PDGFB 
      fusion product. Following identification of an index patient with a novel 
      COL6A3-PDGFD fusion gene, we undertook a molecular investigation, using a 
      combination of RNA sequencing and fluorescence in situ hybridization (FISH), to 
      assess the prevalence of PDGFD rearrangement in dermatofibrosarcoma protuberans 
      (N = 63). Three additional patients were found to have balanced PDGFD 
      rearrangements. Interestingly, all 4 tumors arose on the breast of females. As a 
      result, we subsequently examined 16 additional cases of primary breast 
      dermatofibrosarcoma protuberans, identifying 2 additional tumors with PDGFD 
      rearrangement. The morphology and immunophenotype of all 6 cases was analogous to 
      those with the canonical COL1A1-PDGFB fusion; none of the cases showed 
      fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD 
      fusion product is rare in dermatofibrosarcoma protuberans, and associated with an 
      apparent predilection for breast. An awareness of this variant is important for 
      pathologists, as it will not be detected using conventional reverse transcription 
      polymerase chain reaction or FISH-based diagnostic assays for dermatofibrosarcoma 
      protuberans.
CI  - (c) 2018 Wiley Periodicals, Inc.
FAU - Dickson, Brendan C
AU  - Dickson BC
AUID- ORCID: 0000-0003-2269-6216
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and 
      Department of Laboratory Medicine and Pathobiology, University of Toronto, 
      Toronto, Ontario, Canada.
FAU - Hornick, Jason L
AU  - Hornick JL
AD  - Department of Pathology, Brigham & Women's Hospital and Department of Pathology, 
      Harvard Medical School, Boston, Massachusetts.
FAU - Fletcher, Christopher D M
AU  - Fletcher CDM
AD  - Department of Pathology, Brigham & Women's Hospital and Department of Pathology, 
      Harvard Medical School, Boston, Massachusetts.
FAU - Demicco, Elizabeth G
AU  - Demicco EG
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and 
      Department of Laboratory Medicine and Pathobiology, University of Toronto, 
      Toronto, Ontario, Canada.
FAU - Howarth, David J
AU  - Howarth DJ
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and 
      Department of Laboratory Medicine and Pathobiology, University of Toronto, 
      Toronto, Ontario, Canada.
FAU - Swanson, David
AU  - Swanson D
AD  - Department of Pathology and Laboratory Medicine, Mount Sinai Hospital and 
      Department of Laboratory Medicine and Pathobiology, University of Toronto, 
      Toronto, Ontario, Canada.
FAU - Zhang, Lei
AU  - Zhang L
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Sung, Yun-Shao
AU  - Sung YS
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
FAU - Antonescu, Cristina R
AU  - Antonescu CR
AUID- ORCID: 0000-0002-9717-8205
AD  - Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New 
      York.
LA  - eng
GR  - P30 CA008748/CA/NCI NIH HHS/United States
GR  - P50 CA140146/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20180814
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (COL6A3 protein, human)
RN  - 0 (Collagen Type VI)
RN  - 0 (Lymphokines)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (PDGFD protein, human)
RN  - 0 (Platelet-Derived Growth Factor)
SB  - IM
MH  - Adult
MH  - Biomarkers, Tumor/genetics
MH  - Breast Neoplasms/diagnosis/*genetics/pathology
MH  - Collagen Type VI/*genetics
MH  - Dermatofibrosarcoma/diagnosis/*genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Lymphokines/*genetics
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/genetics/isolation & purification
MH  - Platelet-Derived Growth Factor/*genetics
MH  - Prognosis
MH  - Skin Neoplasms/diagnosis/*genetics/pathology
MH  - Translocation, Genetic/genetics
PMC - PMC6762016
MID - NIHMS1051241
OTO - NOTNLM
OT  - COL1A1
OT  - COL6A3
OT  - PDGFB
OT  - PDGFD
OT  - breast
OT  - dermatofibrosarcoma protuberans
COIS- CONFLICT OF INTEREST The authors declare that they have no conflicts of interest 
      with the contents of this article.
EDAT- 2018/07/18 06:00
MHDA- 2018/10/26 06:00
PMCR- 2019/09/26
CRDT- 2018/07/18 06:00
PHST- 2018/05/16 00:00 [received]
PHST- 2018/06/14 00:00 [revised]
PHST- 2018/06/15 00:00 [accepted]
PHST- 2018/07/18 06:00 [pubmed]
PHST- 2018/10/26 06:00 [medline]
PHST- 2018/07/18 06:00 [entrez]
PHST- 2019/09/26 00:00 [pmc-release]
AID - 10.1002/gcc.22663 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2018 Sep;57(9):437-445. doi: 10.1002/gcc.22663. Epub 
      2018 Aug 14.