RESUMO
The clinical features, histological subtypes and management of dermatofibrosarcoma protuberans (DFSP) are reviewed in this article. DFSP is an uncommon cutaneous sarcoma first described in 1890. It has a high local recurrence rate, low metastatic rate and low mortality. The crude incidence rate in England in 2019 was reported as 3.0 per million person-years. A fusion of platelet-derived growth factor subunit B (PDGFB) and COL1A1, t(17;22)(q22;q13), has been found in over 90% of people with DFSP. This fusion is thought to upregulate PDGFB expression, stimulating cell growth by activation of Ras mitogen-activated protein kinases and PI3K-AKT-mTOR, potentiating oncogenesis. DFSP usually presents as an asymptomatic flesh-coloured, thickened, rubbery plaque or nodule with an uneven surface. The most common sites are the trunk followed by lower limbs, head and neck and upper limbs. Larger tumours can infiltrate underlying local structures and around 1% metastasize. Key histological features in DFSP are spindle cells arranged in a storiform pattern with intense CD34 staining. Histological subtypes include classical DFSP, Bednar, myxoid, giant cell fibroblastoma, atrophic and DFSP-fibrosarcomatous. The gold standard management for localized tumours is surgical: current recommendations favour Mohs micrographic surgery over wide local excision. Adjuvant radiotherapy may be offered after surgery. Imatinib can be used as neoadjuvant therapy and in patients with inoperable or metastatic tumours. Further research should be conducted to better understand pathogenesis of DFSP, identify associated risk factors and standardize management.
Assuntos
Dermatofibrossarcoma , Neoplasias Cutâneas , Humanos , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/genética , Dermatofibrossarcoma/terapia , Proteínas Proto-Oncogênicas c-sis , Fosfatidilinositol 3-Quinases , Mesilato de Imatinib , Cirurgia de Mohs , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: There is a scarcity of information regarding the clinical characteristics of rare cutaneous malignancies in skin of color that has yet to be comprehensively explored. OBJECTIVE: To review and compile the racial differences in epidemiology, clinical presentation, histology, treatments, and outcomes of 3 rare skin cancers: dermatofibrosarcoma protuberans (DFSP), Merkel cell carcinoma (MCC), and sebaceous carcinoma (SC). METHODS: Several searches with keywords denoting specific skin cancer type and race were conducted on PubMed to complete this narrative review. RESULTS: We analyzed 50 sources that were relevant to the initial objective. CONCLUSION: The literature demonstrates that there are nuances in DFSP, MCC, and SC unique to African Americans, Asians/Pacific Islanders, and Hispanics that may differ significantly from Caucasian counterparts. African Americans consistently suffer from the worst clinical outcomes in all 3 rare cutaneous malignancies reviewed. Greater physician awareness and knowledge of the discussed racial differences is the preliminary step to address these disparities.
Assuntos
Carcinoma de Célula de Merkel , Dermatofibrossarcoma , Neoplasias das Glândulas Sebáceas , Neoplasias Cutâneas , Carcinoma de Célula de Merkel/epidemiologia , Carcinoma de Célula de Merkel/terapia , Dermatofibrossarcoma/epidemiologia , Dermatofibrossarcoma/patologia , Dermatofibrossarcoma/terapia , Humanos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Pigmentação da Pele , População BrancaRESUMO
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare low-grade tumor that typically does not metastasize but often recurs. Fibrosarcomatous DFSP (FS-DFSP) is associated with a substantially higher rate of metastasis and a poorer prognosis. OBJECTIVE: This study sought to investigate the epidemiological, histopathological, and clinical characteristics of DFSP, especially with a particular focus on FS-DFSP. MATERIALS AND METHODS: Clinical data from 254 patients treated between January 1999 and July 2018 were retrospectively reviewed. Endpoints of the study were the incidence of significant disease-related clinical events. RESULTS: Follow-up data from 211 patients were available for analysis, with a median follow-up time of 38 months (range: 1-196 months). The 5-year recurrence-free survival rate of patients underwent wide-local excision (WLE) was 97.1%. Patients underwent WLE exhibited a significantly decreased recurrence rate relative to patients treated through local excision (2.9% vs 37.7%; p < .001). Fibrosarcomatous DFSP had significantly higher rates of distant metastasis (66.7% [n = 4] vs 2.0% [n = 4]; p < .001) and long-term mortality (50.0% [n = 3] vs 1.5% [n = 3]; p < .001), compared with classical DFSP (C-DFSP). CONCLUSION: Wide-local excision is an effective means of reducing DFSP recurrence. Rates of metastasis are higher for FS-DFSP than for C-DFSP, with the former having significantly poorer outcomes.
Assuntos
Dermatofibrossarcoma/terapia , Procedimentos Cirúrgicos Dermatológicos/métodos , Recidiva Local de Neoplasia/epidemiologia , Neoplasias Cutâneas/terapia , Adolescente , Adulto , Idoso , Quimioterapia Adjuvante/métodos , Criança , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/mortalidade , Dermatofibrossarcoma/secundário , Intervalo Livre de Doença , Feminino , Seguimentos , Humanos , Incidência , Estimativa de Kaplan-Meier , Masculino , Margens de Excisão , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/prevenção & controle , Prognóstico , Estudos Retrospectivos , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/secundário , Taxa de Sobrevida , Adulto JovemRESUMO
The dermatofibrosarcoma protuberans (DFSP) is the most common form of low-grade cutaneous sarcoma; its infiltrating growth occurs by fingerlike projections, which explain the high rate of recurrence in case of inappropriate surgical procedure. Based on an extensive review of the existing literature, we propose here to discuss the actual criteria for early recognition, diagnosis and optimal take of care of DFSP.
Le dermatofibrosarcoma protuberans (DFSP) est la forme la plus fréquente de sarcome cutané. Son caractère infiltrant du fait de projections tumorales digitiformes caractéristiques expose à un taux de récidive locale très élevé en cas de prise en charge chirurgicale inappropriée. Sur la base d'une revue extensive de la littérature existante, nous proposons ici de revoir les critères diagnostiques du DFSP ainsi que la prise en charge recommandée.
Assuntos
Dermatofibrossarcoma/patologia , Dermatofibrossarcoma/terapia , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Dermatofibrossarcoma/diagnóstico , Detecção Precoce de Câncer , Humanos , Recidiva Local de Neoplasia , Neoplasias Cutâneas/diagnósticoRESUMO
OPINION STATEMENT: Cutaneous sarcoma is a group of malignant mesenchymal tumors primarily involving the dermis, and it is characterized by extreme clinicopathological heterogeneity. Although its occurrence rate is rare, dermatofibrosarcoma protuberans (DFSP) is one of the most common types of dermal sarcoma. DFSP grows slowly and tends to relapse locally after inadequate resection. There are various histological variants of DFSP tumors and it often mimics benign lesions such as dermatofibroma and scar, which make accurate diagnosis difficult and delayed, and some cases progress to the stage where the tumor is unresectable. Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. For example, some clinical studies have confirmed the efficacy of imatinib methylate, an αPDGFR-targeted therapy for unresectable or metastatic DFSP. The present review summarizes recent updates in DFSP research, diagnostics, and treatment.
Assuntos
Sarcoma/etiologia , Sarcoma/metabolismo , Neoplasias Cutâneas/etiologia , Neoplasias Cutâneas/metabolismo , Biomarcadores Tumorais , Terapia Combinada , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/etiologia , Dermatofibrossarcoma/metabolismo , Dermatofibrossarcoma/terapia , Gerenciamento Clínico , Suscetibilidade a Doenças , Predisposição Genética para Doença , Humanos , Imuno-Histoquímica , Gradação de Tumores , Estadiamento de Neoplasias , Sarcoma/diagnóstico , Sarcoma/terapia , Pele/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Resultado do TratamentoRESUMO
Dermatofibroma sarcoma protuberans (DFSP) is a rare, locally aggressive soft tissue sarcoma with a tendency for recurrence after excision. Although reports of unilateral orbital and bilateral eyelid disease exist, there have been no prior reports of DFSP with bilateral orbital involvement and no previously described cases of DFSP associated with transient optic neuropathy. The authors present a case report of a 34-year-old woman with a giant scalp DFSP involving the bilateral orbits. Despite radical resection with 5 cm margins where possible, multiple positive margins remained including deep positive margins at the bilateral superomedial retroseptal soft tissue. The patient completed adjuvant radiation for surgically unresectable disease. This case highlights the challenge of achieving local control given the disease extent and infiltration of the bilateral eyelids and orbits. This is the first reported case of DFSP with bilateral orbital involvement and associated transient optic neuropathy.
Assuntos
Dermatofibrossarcoma/diagnóstico , Neoplasias Orbitárias/patologia , Neoplasias Cutâneas/diagnóstico , Adulto , Biópsia , Terapia Combinada , Dermatofibrossarcoma/terapia , Feminino , Humanos , Imageamento por Ressonância Magnética , Invasividade Neoplásica , Neoplasias Orbitárias/terapia , Neoplasias Cutâneas/terapiaRESUMO
In the study of obscure gastrointestinal bleeding, which includes iron-deficiency anemia, the capsule endoscopy is a valuable diagnostic tool. In the different series the presence of tumors reaches 16% as the cause of it. We present the case of a rare tumor with metastatic extension in the small intestine in which the capsule endoscopy was key to the diagnosis and survival of the patient.
Assuntos
Endoscopia por Cápsula , Dermatofibrossarcoma/secundário , Neoplasias Duodenais/secundário , Neoplasias do Jejuno/secundário , Neoplasias Pulmonares/secundário , Neoplasias Cutâneas/patologia , Adulto , Nádegas , Dermatofibrossarcoma/diagnóstico por imagem , Dermatofibrossarcoma/terapia , Neoplasias Duodenais/diagnóstico por imagem , Humanos , Neoplasias do Jejuno/diagnóstico por imagem , Neoplasias Pulmonares/cirurgia , Masculino , Tomografia por Emissão de Pósitrons combinada à Tomografia ComputadorizadaRESUMO
While dermatofibrosarcoma protuberans (DFSP) is a rare cancer entity overall, it is nevertheless the most common type of cutaneous sarcoma. The tumor is of fibroblastic origin and characterized by slow, undermining and locally destructive growth. Metastatic spread is very rare. Given its nonspecific clinical appearance, diagnosis is frequently delayed. Biopsy and subsequent histopathology are key diagnostic tools. Standard treatment for primary tumors consists of complete excision with surgical margins of 1 to 2 cm. Smaller margins are associated with high local recurrence rates. Inoperable and metastatic DFSP may be treated with radiation therapy. Approximately 80-90 % of DFSP lesions harbor a fusion gene that results in continuous activation of the PDGF-ß signaling pathway. Consequently, molecular targeted therapy inhibiting PDGF-ß is an effective option for advanced (inoperable) and metastatic DFSP. The first agent to be approved for systemic treatment of DFSP is the multikinase inhibitor imatinib, showing objective response rates of about 50 % in clinical trials.
Assuntos
Dermatofibrossarcoma/terapia , Neoplasias Cutâneas/terapia , Assistência ao Convalescente , Antineoplásicos/uso terapêutico , Dermatofibrossarcoma/patologia , Humanos , Estadiamento de Neoplasias , Encaminhamento e Consulta , Neoplasias Cutâneas/patologiaRESUMO
BACKGROUND: The predictors of mortality, second surgery, and postoperative radiation therapy for treating dermatofibrosarcoma protuberans (DFSP) are not well described. OBJECTIVE: We sought to determine the impact of patient demographics, tumor characteristics, and treatment site and modality on survival after primary DFSP. METHODS: A retrospective analysis of data from the National Cancer Database was performed for patients diagnosed with DFSP during 2003-2012. RESULTS: A total of 5249 cases were identified. Of these, 3.1% of patients died during an average of 51.4 months of follow-up. After adjusting for relevant factors, lack of insurance, Medicaid and Medicare insurance, anaplastic histology, and positive postoperative margins all predicted mortality, while treatment at an Integrated Network Cancer Program predicted survival (P < .05). Higher odds of postoperative radiation therapy were directly associated with large tumor size, anaplastic and poorly differentiated histology, and positive postoperative margins and inversely associated with treatment at high volume facilities, and non-head and neck tumors. Higher second surgery rates were associated with Hispanic ethnicity, and lower rates were associated with female sex. LIMITATIONS: Survival data was not cancer-specific. CONCLUSION: Better understanding of factors affecting survival outcomes might help improve management of DFSP and delineate other potential causes of increased morbidity and mortality.
Assuntos
Causas de Morte , Dermatofibrossarcoma/mortalidade , Dermatofibrossarcoma/patologia , Sistema de Registros , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Adulto , Fatores Etários , Idoso , Estudos de Coortes , Terapia Combinada , Dermatofibrossarcoma/terapia , Intervalo Livre de Doença , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Cirurgia de Mohs/métodos , Cirurgia de Mohs/mortalidade , Análise Multivariada , Invasividade Neoplásica , Estadiamento de Neoplasias , Prognóstico , Modelos de Riscos Proporcionais , Radioterapia Adjuvante , Estudos Retrospectivos , Medição de Risco , Fatores Sexuais , Neoplasias Cutâneas/terapia , Análise de Sobrevida , Resultado do Tratamento , Estados UnidosRESUMO
OPINION STATEMENT: Dermatofibrosarcoma protuberans (DFSP) is a slow growing tumor with a very low metastatic potential but with significant subclinical extension and great capacity for local destruction. Thus, the first surgeon approached with such challenging tumor must attempt to cure the patient with a method that spares healthy tissue and ensures an optimal oncological, functional, and esthetic result. The treatment of DFSP often requires a multidisciplinary approach. Depending on location, dermatologic surgeons, surgical oncologists, head and neck surgeons, neurosurgeons, plastic surgeons, and occasionally medical oncologists may be involved with the management. Mohs micrographic surgery (MMS) is the preferred method when available. In our institution, most of the DFSP cases are often advanced cases; thus, dermatologic surgeons obtain clear margins peripherally and other surgical specialties assist with resection of the fascia and any critical deeper structures. When MMS is not available, wide local excision (at least 2- to 3-cm margins of resection) with exhaustive pathologic assessment of margin status is recommended, and it is best to confirm tumor extirpation prior to any reconstruction. Subclinical extension of the tumor could be related to the size; how long it has been growing or histological markers that are unknown right now. No clinical trials comparing MMS vs WLE are available, and further research should be focused on these subjects as well as the use of imatinib and other targeted therapies for recurrent and metastatic tumors and for neoadjuvant treatment.
Assuntos
Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Biópsia , Terapia Combinada/efeitos adversos , Terapia Combinada/métodos , Dermatofibrossarcoma/epidemiologia , Dermatofibrossarcoma/etiologia , Gerenciamento Clínico , Suscetibilidade a Doenças , Predisposição Genética para Doença , Humanos , Imagem Multimodal/métodos , Estadiamento de Neoplasias/métodos , Fenótipo , Prognóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/etiologia , Resultado do TratamentoRESUMO
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade cutaneous neoplasm with a low propensity for metastasis and a high rate of local recurrence. It typically presents as a dermal plaque or nodule on the trunk, limbs, or head and neck region. Vulvar DFSP has also been described, although it is less common. OBJECTIVE: To review the available literature and discuss the clinical course of DFSP affecting the vulva. MATERIALS AND METHODS: We reviewed the existing English-language literature on DFSP of the vulva with respect to clinical presentation, diagnosis, treatment, and outcome. RESULTS: Thirty three case reports and series were included (n = 54 patients). Vulvar DFSP most commonly presents as a slowly enlarging tender or asymptomatic mass on the labia majora, with histological findings of classic DFSP. Most patients were treated with wide local excision. Three patients were treated with Mohs micrographic surgery, which may decrease local recurrence and seems well suited for use in vulvar DFSP. CONCLUSION: This literature review comprehensively reviews and describes the clinical presentation of vulvar DFSP and the treatment options for this rare vulvar neoplasm.
Assuntos
Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/terapia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Neoplasias Vulvares/diagnóstico , Neoplasias Vulvares/terapia , Feminino , HumanosRESUMO
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-grade soft tissue sarcoma. In the pediatric population, DFSP is exceedingly rare. Aim of this study was to describe the epidemiology and clinical outcomes in a large pediatric cohort. METHODS: Surveillance, Epidemiology, and End Results (SEER) database (1973-2010) was analyzed for all patients with dermatofibrosarcoma occurring in patients <20 years of age. Data were extracted based on age, gender, race, anatomic site, histology, stage, treatment modalities, and survival. Incidence rates were standardized to the 2000 US population. RESULTS: A total of 451 patients were identified. Overall annual incidence was 0.10 per 100,000. Incidence was highest among black children and adolescents (ages 15 to 19 years). Trunk was most common site, followed by extremities. Head and neck region was least common site (Pâ<â0.05). Majority (54%) of patients presented with localized disease. Overall, 95% underwent surgery. Only 2.2% were treated with perioperative radiation therapy. Overall prognosis was favorable with 5-year overall survival (OS) of 100%, 15-year OS of 98%, and 30-year OS of 97%. Median survival was 117 months. Male patients had lower 15- and 30-year OS compared with females (Pâ<â0.05). CONCLUSION: Pediatric DFSP has lower incidence but similar clinical characteristics to adults. Incidence is higher in black children and in the trunk region. While prognosis is favorable, male sex is associated with decreased OS.
Assuntos
Dermatofibrossarcoma/epidemiologia , Neoplasias Cutâneas/epidemiologia , Adolescente , Terapia Combinada , Dermatofibrossarcoma/terapia , Extremidades , Feminino , Cabeça , Humanos , Incidência , Masculino , Pescoço , Prognóstico , Neoplasias Cutâneas/terapia , Tronco , Estados Unidos/epidemiologia , Adulto JovemRESUMO
Dermatofibrosarcoma protuberans (DFSP), the most common dermal sarcoma, is a malignant fibroblastic tumor most frequently arising in middle-aged adults. It is typically a low-grade sarcoma that grows slowly but has a high rate of local recurrence with low metastatic potential. Dermatofibrosarcoma protuberans is characterized by a specific translocation t(17;22)(q22;q13) leading to the formation of COL1A1-PDGFB fusion transcripts. Histologically, DFSP has characteristic morphology, of storiform islands of bland spindle cells, and immunohistochemically, it shows diffuse expression of CD34. However, the morphology and immunoprofile can overlap with a variety of other soft tissue neoplasms. The preferred management of localized disease is wide surgical resection or Mohs micrographic surgery, whereas radiotherapy may be used for margin-positive disease where reexcision is not possible, or for inoperable disease. Dermatofibrosarcoma protuberans is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease have been previously limited, but the PDGFßR, KIT, and ABL inhibitor imatinib is now an option for effective systemic therapy. Continued insight into the tumorigenic molecular changes generated by the fusion oncogene may lead to further specific targeted treatments. We review DFSP, discussing the morphologic spectrum and variants, immunohistochemistry, molecular genetic findings, potential targeted treatments, and the differential diagnosis.
Assuntos
Biomarcadores Tumorais/análise , Dermatofibrossarcoma , Recidiva Local de Neoplasia , Neoplasias Cutâneas , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/genética , Dermatofibrossarcoma/patologia , Dermatofibrossarcoma/terapia , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica/métodos , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Recidiva Local de Neoplasia/terapia , Patologia Molecular/métodos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/terapia , Translocação GenéticaRESUMO
Cutaneous ultrasound plays an important role in the study and management of non-melanoma skin cancer. Among other factors, this technique contributes to the diagnosis and differential diagnosis of these tumours, the establishment of their size and relation to neighbouring structures, the delimitation of surgical margins, and the detection of subclinical and recurrent lesions. The present article analyses the role of cutaneous ultrasound in the field of non-melanoma skin cancer (basal and squamous cell carcinomas, lymphomas and dermatofibrosarcoma) through a literature review.
Assuntos
Neoplasias Cutâneas/diagnóstico por imagem , Ultrassonografia , Carcinoma Basocelular/diagnóstico por imagem , Carcinoma Basocelular/terapia , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/terapia , Dermatofibrossarcoma/diagnóstico por imagem , Dermatofibrossarcoma/terapia , Humanos , Melanoma , Neoplasias Cutâneas/terapiaRESUMO
BACKGROUND: To our knowledge, no systematic review of dermatofibrosarcoma protuberans (DFSP) outcomes based on the presence or absence of fibrosarcomatous (FS) change has been performed. OBJECTIVE: We sought to compare available outcome data for DFSP versus DFSP-FS. METHODS: The literature was searched for DFSP and DFSP-FS reports with outcome data (local recurrence, metastasis, or death from disease). Chi-square tests were calculated to determine whether DFSP and DFSP-FS significantly differed in risk of local recurrence, metastasis, and death from disease. RESULTS: In all, 24 reports containing 1422 patients with DFSP and 225 with DFSP-FS are summarized. Risk of local recurrence, metastasis, and death from disease in DFSP-FS was significantly higher as compared with DFSP (local recurrence 29.8% vs 13.7%, risk ratio 2.2 [95% confidence interval 1.7-2.9]; metastasis 14.4% vs 1.1%, risk ratio 5.5 [95% confidence interval 4.3-7.0]; and death from disease 14.7% vs 0.8%, risk ratio 6.2 [95% confidence interval 5.0-7.8]). There was no significant difference in DFSP-FS outcomes based on proportion of FS change within tumors. LIMITATIONS: This study is based on previously reported data from different hospitals with no uniform process for reporting FS change. The impact of confounders (age, immune status, tumor location, treatment) could not be evaluated because of limited data. CONCLUSION: Based on available retrospective data, risk of metastasis and death is elevated in DFSP-FS as compared with DFSP. Even a low degree of FS involvement portends worse outcomes.
Assuntos
Dermatofibrossarcoma/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias Cutâneas/patologia , Biópsia por Agulha , Dermatofibrossarcoma/mortalidade , Dermatofibrossarcoma/terapia , Feminino , Fibrossarcoma/mortalidade , Fibrossarcoma/patologia , Fibrossarcoma/terapia , Humanos , Imuno-Histoquímica , Masculino , Invasividade Neoplásica/patologia , Recidiva Local de Neoplasia/mortalidade , Estadiamento de Neoplasias , Prognóstico , Medição de Risco , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/terapia , Análise de SobrevidaRESUMO
Little is known about the incidence and management of dermatofibrosarcoma protuberans (DFSP) in children. We conducted a retrospective review of all patients younger than 18 years of age treated for DFSP over a period of 11 years (2000-2011) in Madrid, Spain. The sample consisted of 13 children. The average annual incidence of DFSP in the pediatric population corresponded to 1.02 cases per million person-years (95% confidence interval 0.55, 1.73). Sites of involvement were diverse, with 15.3% of tumors found in acral locations. The median tumor size was 3.5 cm × 3 cm and the median time from apparent onset to diagnosis was 36 months. Histopathologic examination revealed conventional (77.0%), pigmented (15.4%), and myxoid (7.6%) variants. The mitotic index was consistently <5 per 10 high-power fields. All lesions were removed using surgical excision. One patient developed a local recurrence because of initial affected margins; none developed metastases. The median duration of clinical follow-up was 70.5 months. This study estimated the average annual incidence rate of DFSP in a population of patients younger than 18 years and reviewed the experience of several hospitals in the management of this tumor.
Assuntos
Dermatofibrossarcoma/epidemiologia , Neoplasias Cutâneas/epidemiologia , Adolescente , Criança , Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/terapia , Feminino , Humanos , Incidência , Lactente , Masculino , Prognóstico , Estudos Retrospectivos , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/terapia , Espanha/epidemiologiaRESUMO
Dermatofibrosarcoma protuberans (DFSP) is a rare superficial tumor characterized by high rates of local recurrence and low risk of metastasis. DFSP occurs most commonly on the trunk and proximal extremities, affects all races, and often develops between the second and fifth decade of life. The tumor grows slowly, typically over years. Histologically, several variants of DFSP have been described and should be well characterized to avoid misdiagnosis with other tumors. These include pigmented (Bednar tumor), myxoid, myoid, granular cell, sclerotic, atrophic DFSP, giant cell fibroblastoma, and DFSP with fibrosarcomatous areas. Of all these variants, only the DFSP with fibrosarcomatous areas is high grade, with a higher rate of local recurrence and distant metastasis. DFSP is genetically characterized by the t(17;22)(q22;q13), resulting in the fusion of alpha chain type 1 of collagen gene and platelet-derived growth factor beta gene. This translocation is present in 90% of DFSP and represents a very useful tool in the differential diagnosis of DFSP with other tumors with similar histology. The standard treatment is wide local excision with at least a 2-cm margin. However, local recurrence after apparently adequate surgical excision is well recognized. Mohs micrographic surgery would be the treatment of choice with a better cure rate and maximal conservation of tissue. When surgery is insufficient, clinical evidence has suggested that imatinib mesylate is a safe and effective treatment in DFSP, especially in cases of local advanced or metastatic disease. This article presents an overview of the state of the art in the clinicopathological management of this disease.
Assuntos
Dermatofibrossarcoma/diagnóstico , Neoplasias Cutâneas/diagnóstico , Antineoplásicos/uso terapêutico , Benzamidas , Terapia Combinada , Dermatofibrossarcoma/genética , Dermatofibrossarcoma/terapia , Humanos , Mesilato de Imatinib , Cirurgia de Mohs/métodos , Recidiva Local de Neoplasia , Piperazinas/uso terapêutico , Pirimidinas/uso terapêutico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/terapia , Translocação GenéticaRESUMO
OBJECTIVE: To investigate the clinical pathological features of fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP). METHODS: The clinical history, histopathological features and immunohistochemical characteristics were analyzed in twelve cases of FS-DFSP from January 1997 to February 2011, and related literature were reviewed. RESULTS: Age of the patients (2 females, 10 males) at diagnosis ranged from 41 to 70 years (mean 53 years). Among the 12 cases of FS-DFSP, 9 cases aroused in recurrent ordinary DFSP. Histologically, FS areas in FS-DFSP were characterized by a fascicular and highly cellular histology, frequently showing a characteristic herringbone pattern. FS-DFSP showed diminishment of CD34 staining in FS areas. The labeling index of Ki-67 was much higher in the FS areas (10%-40%) than that in the conventional DFSP areas (2%-5%). All the patients were treated by operation with local excision or wide excision. Postoperative radiotherapy and chemotherapy was administered in two cases respectively. Follow-up information in 9 of 12 patients (9 to 86 months) revealed local recurrence in 6 patients. Distant metastases were seen in two patients. One patient was died in the follow up period. CONCLUSIONS: FS-DFSP is a rare and unique subtype of DFSP and is associated with significant elevated risk of both local and distance metastasis, usually followed by poor outcome. Compared to ordinary DFSP as a borderline neoplasm, FS-DFSP should be considered as a malignant tumor.
Assuntos
Dermatofibrossarcoma/patologia , Fibrossarcoma/patologia , Neoplasias Cutâneas/patologia , Adulto , Idoso , Antígenos CD34/metabolismo , Quimioterapia Adjuvante , Dermatofibrossarcoma/metabolismo , Dermatofibrossarcoma/terapia , Diagnóstico Diferencial , Feminino , Fibroma/patologia , Fibrossarcoma/metabolismo , Fibrossarcoma/terapia , Seguimentos , Histiocitoma Fibroso Benigno/metabolismo , Histiocitoma Fibroso Benigno/patologia , Histiocitoma Fibroso Maligno/patologia , Humanos , Antígeno Ki-67/metabolismo , Neoplasias Pulmonares/secundário , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Radioterapia Adjuvante , Estudos Retrospectivos , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/terapiaRESUMO
BACKGROUND AND OBJECTIVES: Dermatofibrosarcoma protuberans (DFSP) is a low-grade malignant tumor but has high local recurrence rate. The objectives of this study were to analyze their clinicopathologic factors and review the experience of multidisciplinary treatments. METHODS: A total of 260 patients who were treated between 1985 and 2006 in Fudan University Shanghai Cancer Center were evaluated. Outcomes were compared focusing on recurrence and survival. Classical DFSP and transformed DFSP were the two subtypes. RESULTS: After local excision, 50.2% of the patients were found to have residual tumors. The recurrence rate after local excision was significantly higher than that after wide excision (45.0% vs. 8.5%, P < 0.0001). Patients undergoing wide excision with margins ≥3 cm were found to have lower recurrence rate compared with those margins 1.5-2.5 cm (5.7% vs. 13.6%, P = 0.043). Compared with classical DFSPs, transformed DFSPs had significantly higher recurrence rate (34.5% vs. 6.3%, P < 0.0001), higher metastatic rate (23.5% vs. 0.4%, P < 0.0001), and worse prognosis (10-year survival rate 66.0% vs. 98.6%, P < 0.0001). CONCLUSIONS: Performing adequate initial resection is important for patients with DFSP. Once DFSP was diagnosed, wide excision with a best margin of ≥3 cm is necessary. Transformed DFSPs are more aggressive tumors which need more energetic treatments.
Assuntos
Dermatofibrossarcoma/diagnóstico , Dermatofibrossarcoma/terapia , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/terapia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Terapia Combinada , Dermatofibrossarcoma/mortalidade , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Recidiva Local de Neoplasia/mortalidade , Estadiamento de Neoplasias , Neoplasia Residual/diagnóstico , Neoplasia Residual/mortalidade , Neoplasia Residual/terapia , Prognóstico , Estudos Prospectivos , Taxa de Sobrevida , Adulto JovemRESUMO
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is the most common cutaneous sarcoma. Tentacle-like extensions of neoplastic cells create a high incidence of local recurrence and pose challenges to resection and reconstruction. OBJECTIVE: Here we present a multidisciplinary approach to the management of DFSP incorporating the expertise of a Mohs micrographic surgeon, surgical oncologist, dermatopathologist, and plastic surgeon. METHODS: This was a single-institution, retrospective review of a prospectively maintained database of 19 consecutive patients who underwent resection and reconstruction of a DFSP from 1998 to 2010. All patients underwent Mohs micrographic surgery for mapping of peripheral margins (stage I excision), followed by wide local excision for delineation of the deep margin (stage II excision). Procedures were performed in consultation with a dermatopathologist who confirmed tumor-free margins, and a plastic surgeon who performed immediate reconstruction after the wide local excision (stage II reconstruction). RESULTS: Nineteen patients were included in this study. The average number of Mohs stages required for clearance of peripheral margins was 2.7 ± 0.7. The mean time between stage I and II procedures was 16 ± 11 days. The average defect size after the stage II operation was 87.3 cm(2) (range, 9-300 cm(2)). There were no cases of tumor recurrence. Mean follow-up time was 17 months (range, 1-53 months). LIMITATIONS: This is a retrospective review of a single-institution experience. CONCLUSION: A multidisciplinary approach to the management of DFSP optimizes both oncologic and reconstructive outcomes, minimizing the risk for local recurrence and limiting the functional and cosmetic morbidity associated with surgical resection.