title: Dermatofibrosarcoma protuberans: a study of clinical, pathologic, genetic, and therapeutic features in Korean patients.
abstract: OBJECTIVE
  Dermatofibrosarcoma protuberans (DFSP) carries a translocation resulting in the collagen type I alpha 1 (COL1A1)-platelet-derived growth factor beta (PDGFB) fusion gene, which is responsible for PDGFB activation. The purpose of this study is to evaluate the clinicopathological, genetic, and therapeutic features of DFSP in Korean patients.
  
  
  METHODS
  Clinicopathological features of 37 patients with DFSP were reviewed. Multiplex reverse transcriptase-polymerase chain reaction (PCR) was carried out in 16 patients using formalin-fixed, paraffin-embedded tissues and specific primers for COL1A1 and PDGFB.
  
  
  RESULTS
  The mean age of 37 patients was 37.4 years old. The most common tumor location was the trunk. All patients were treated primarily with surgery: 34 (91.7%) cases with Mohs micrographic surgery (MMS) and 3 (8.3%) cases with wide local excision. The median follow-up time was 33.7 months. Two patients, one in each treatment group, demonstrated local recurrence during the follow-up period. The COL1A1-PDGFB fusion gene was expressed in 14 (87.5%) cases, demonstrated by reverse transcriptase PCR analysis. No association was found among the different COL1A1-PDGFB fusion transcripts, the various histological subtypes and clinical features.
  
  
  CONCLUSIONS
  Our results support the effectiveness of MMS in treating DFSP. The COL1A1-PDGFB fusion transcript was observed in 87.5% of patients. Therefore, COL1A1-PDGFB is a useful and accurate tool in diagnosing DFSP in Koreans.
authors: Department of Dermatology, Severance Hospital, Seoul, Korea.; Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Department of Dermatology, Yanbian University Hospital, Yanbian, China.
authors: Zhenlong
authors: Z
authors: Zheng
authors: Department of Dermatology, Severance Hospital, Seoul, Korea.; Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.; Department of Dermatology, Yanbian University Hospital, Yanbian, China.
authors: Junjei
authors: J
authors: Piao
authors: Department of Dermatology, Gangnam Severance Hospital, Seoul, Korea.; Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors: Ji-Hye
authors: JH
authors: Lee
authors: Department of Dermatology, Gangnam Severance Hospital, Seoul, Korea.
authors: Song-Ee
authors: SE
authors: Kim
authors: Department of Dermatology, Gangnam Severance Hospital, Seoul, Korea.; Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors: Soo-Chan
authors: SC
authors: Kim
authors: Department of Dermatology, Severance Hospital, Seoul, Korea.; Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea.
authors: Kee Yang
authors: KY
authors: Chung
authors: Department of Dermatology, Gangnam Severance Hospital, Seoul, Korea.; Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. karenroh@yuhs.ac.
authors: Mi Ryung
authors: MR
authors: Roh
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D017931:DNA Primers; D018223:Dermatofibrosarcoma / Q000208:ethnology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D015580:Mohs Surgery; D060885:Multiplex Polymerase Chain Reaction; D009364:Neoplasm Recurrence, Local; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics*; D056910:Republic of Korea; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D016896:Treatment Outcome
chemical_list: C000716127:COL1A1 protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D017931:DNA Primers; D015514:Oncogene Proteins, Fusion; D020574:Proto-Oncogene Proteins c-sis
keywords: Dermatofibrosarcoma protuberans; Mohs micrographic surgery; collagen type I alpha 1-platelet-derived growth factor beta; histological subtype