Dermatofibrosarcoma Protuberans: A Study of Clinical, Pathologic, Genetic, and Therapeutic Features in Korean Patients.
10.3349/ymj.2015.56.2.440
- Author:
Zhenlong ZHENG
1
;
Junjei PIAO
;
Ji Hye LEE
;
Song Ee KIM
;
Soo Chan KIM
;
Kee Yang CHUNG
;
Mi Ryung ROH
Author Information
1. Department of Dermatology, Severance Hospital, Seoul, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Dermatofibrosarcoma protuberans;
collagen type I alpha 1-platelet-derived growth factor beta;
histological subtype;
Mohs micrographic surgery
- MeSH:
Adolescent;
Adult;
Asian Continental Ancestry Group/*genetics;
Collagen Type I/*genetics;
DNA Primers;
Dermatofibrosarcoma/ethnology/*genetics/*pathology/surgery;
Female;
Humans;
Male;
Middle Aged;
Mohs Surgery;
Multiplex Polymerase Chain Reaction;
Neoplasm Recurrence, Local;
Oncogene Proteins, Fusion/*genetics;
Proto-Oncogene Proteins c-sis/*genetics;
Republic of Korea;
Reverse Transcriptase Polymerase Chain Reaction;
Skin Neoplasms/ethnology/*genetics/*pathology/surgery;
Treatment Outcome
- From:Yonsei Medical Journal
2015;56(2):440-446
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: 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. MATERIALS AND 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. CONCLUSION: 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.
