RESUMO
Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue neoplasm of low metastatic potential notable for its progressive growth and high rate of local recurrence after surgical excision. Fibrosarcomatous transformation of DFSP (FS-DFSP) is a rare variant characterized by higher rates of local recurrence and metastasis. Trauma has been hypothesized as a potential risk factor for the development of DFSP, although clear evidence has been lacking. In this study, we report a case of FS-DFSP that was found arising from a previously stable scar following a traumatic injury. A 49-year-old male was diagnosed with keloid scars following a motor vehicle accident where he sustained trauma. 12 years later, a large tumor developed immediately after a second traumatic event to the primary scar. Pathology of the excisional biopsy specimen demonstrated FS-DFSP with focal areas consistent with keloid and hypertrophic scar. This observation demonstrates the development of DFSP from underlying scar following a clear history of trauma. Furthermore, it suggests trauma as a possible trigger for the fibrosarcomatous transformation of DFSP.
Assuntos
Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias Cutâneas/etnologia , Ferimentos e Lesões/complicações , Dermatofibrossarcoma/etnologia , Pele/lesões , Cicatriz Hipertrófica , Dermatofibrossarcoma/patologia , QueloideRESUMO
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.
Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Povo Asiático/genética , Colágeno Tipo I/genética , Primers do DNA , Dermatofibrossarcoma/etnologia , Cirurgia de Mohs , Reação em Cadeia da Polimerase Multiplex , Recidiva Local de Neoplasia , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas c-sis/genética , República da Coreia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias Cutâneas/etnologia , Resultado do TratamentoRESUMO
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.