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
Povo Asiático/genética , Colágeno Tipo I/genética , Dermatofibrossarcoma/genética , Dermatofibrossarcoma/patologia , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas c-sis/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Adolescente , Adulto , Cadeia alfa 1 do Colágeno Tipo I , Primers do DNA , Dermatofibrossarcoma/etnologia , Dermatofibrossarcoma/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Cirurgia de Mohs , Reação em Cadeia da Polimerase Multiplex , Recidiva Local de Neoplasia , República da Coreia , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Neoplasias Cutâneas/etnologia , Neoplasias Cutâneas/cirurgia , 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.
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.
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 TratamentoAssuntos
Negro ou Afro-Americano , Dermatofibrossarcoma/secundário , Neoplasias Pulmonares/secundário , Neoplasias Cutâneas/patologia , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/etnologia , Dermatofibrossarcoma/terapia , Diagnóstico Diferencial , Feminino , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/etnologia , Neoplasias Pulmonares/terapia , Pessoa de Meia-Idade , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/etnologia , Neoplasias Cutâneas/terapiaRESUMO
BACKGROUND: The epidemiology of dermatofibrosarcoma protuberans (DFSP) has not been studied in detail. OBJECTIVE: We sought to describe patterns of DFSP incidence and survival in the United States. METHODS: Data were obtained from 9 population-based cancer registries of the Surveillance, Epidemiology, and End Results Program for 1973 to 2002. RESULTS: DFSP overall annual incidence was 4.2 per million. Incidence increased by 43% (3.1-4.4 per million per year) during the study period, but this increase was restricted to whites. Annual incidence among blacks (6.5 per million) was almost double the incidence among whites (3.9 per million; P < .005, 95% confidence interval of difference 2.02-3.22). Women had higher rates of incidence than men (4.4 vs 4.2 per million per year; P = .052, 95% confidence interval of difference -0.002 to 0.60), except among the elderly. Relative 5-year survival was 99.2% (95% confidence interval 98.3-100%). LIMITATIONS: The Surveillance, Epidemiology, and End Results Program lacks independent verification of diagnoses and case detail. CONCLUSIONS: The racial differences in the incidence of DFSP are significant, and the cause is unknown. Previous literature had suggested that men were more frequently affected, which was not true in our data. The tumor rarely results in death. Epidemiologic investigation using population-based data is important to better understand this disorder.
Assuntos
Dermatofibrossarcoma/epidemiologia , Adolescente , Adulto , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Dermatofibrossarcoma/etnologia , Dermatofibrossarcoma/mortalidade , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Programa de SEER , Análise de Sobrevida , Estados Unidos/epidemiologia , População Branca/estatística & dados numéricosRESUMO
Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive cutaneous neoplasm that exhibits a marked tendency for recurrence after local excision. This case series aims to study the clinical, histological and immunohistochemical features of DFSP in Asians. Ten patients with DFSP diagnosed between 1992 and 2001 were reviewed. There were more women than men in a ratio of 4:1. There were six Chinese, two Malays, one Indian and one Eurasian. The mean age was 38 years. The duration of each lesion before excision varied from 6 months to 27 years. Fifty per cent of tumours occurred on the trunk. On histology, all the lesions were dermal-centred spindle cell tumours, extending to the subcutis, and exhibited the characteristic storiform pattern. One tumour also demonstrated fibrosarcomatous changes. Two tumours were of the rare pigmented variant (Bednar tumour). Immunohistochemistry with CD34 was positive in all cases, except the fibrosarcomatous area of one tumour, which was negative for CD34. For comparison, six cases of deep-penetrating dermatofibroma were stained for CD34 and all showed an absence of CD34 expression. Wide excision of the tumour was performed in all cases of DFSP. There was no recurrence after mean follow up of 6 years (range 2.25-9.5 years).
Assuntos
Povo Asiático , Dermatofibrossarcoma/etnologia , Neoplasias Cutâneas/etnologia , Adolescente , Adulto , Antígenos CD34/metabolismo , Dermatofibrossarcoma/metabolismo , Dermatofibrossarcoma/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Singapura , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologiaRESUMO
Skin cancer is the most common type of malignancy in the United States. Incidence within the African American population remains relatively low, but data is limited for this racial group, making accurate determination of incidence and mortality difficult. Factors implicated as causative in the pathogenesis of cutaneous malignancy in African Americans include, but are by no means limited to, sunlight, albinism, burn scars, X-rays, preexisting pigmented lesions, chronic inflammation, and chronic discoid lupus erythematosus. Anatomic distribution of lesions may be similar to that seen in whites for basal cell carcinoma but not for other skin cancers. For squamous cell carcinoma, melanoma, and cutaneous T-cell lymphoma, African Americans do not as well in terms of mortality as do whites. This difference probably is due either to the fact that African Americans have more advanced stages of disease at diagnosis than do whites or, in some cases, because the course of the disease is more aggressive in African Americans for reasons yet unknown. There is a need for heightened awareness of skin cancer in African Americans by patients and physicians. Emphasis should be on education and early diagnosis with the primary goal in mind being the reduction of incidence of and mortality due to skin cancer in African Americans. In addition, because of environmental factors, African Americans will be exposed to more solar ultraviolet radiation in the future. Strategies should be developed for public education to keep this exposure to low levels in this racial group.
