SEARCH · PubMed Health

Results for “Dermatofibrosarcoma”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 181 records · Page 10Linked to original sources

PubMed2006

Dermatofibrosarcoma protuberans: review of 20-years experience.

INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue neoplasm with low-intermediate grade of malignancy. It is a locally aggressive tumour with a high recurrence rate. Surgical excision with adequate margins is the main treatment. MATERIALS AND METHODS: We describe the clinicopathological features of 21 cases of DFSP. The mean size of the lesions was 5.6 cm, mostly located in trunk. 61.9% of the cases underwent surgical excision without previous biopsy. 52.4% of the patients presented positive margins, that required surgical extension. RESULTS: The recurrence rate was 28.6% (6 cases), five of them local recurrences treated with new surgical excision with wide margins. Median period free of illness was 32.5 months. Medium follow-up period was 33.25 months. CONCLUSIONS: DFSP has a locally high recurrence rate, that has been associated to inadequate surgical margins. The histological knowledge preoperatively would permit surgical excision with adequate margins, and probably this could reduce the recurrence rate. Radiotherapy could avoid the surgical extension of margins in these cases with positive ones. Chemotherapy could be indicated in metastasic cases. Most recurrences appear in the first 3 years, but it is important a long-term follow-up of these patients.

Adult↗

PubMed1994

Supernumerary ring chromosomes containing chromosome 17 sequences. A specific feature of dermatofibrosarcoma protuberans?

Mystery surrounds the mechanisms by which the uncommon cutaneous tumor dermatofibrosarcoma protuberans (DP) arises and progresses. A clue may be at hand in the form of extra abnormal chromosomes (one of three ring chromosomes per case with or without other chromosome abnormalities) seen in some 10 cases, including five cases in our experience. The specificity of the rings to DP would be enhanced if the rings were found to contain a contribution from a constant chromosome. We here report fluorescence in situ hybridization (FISH) results bearing on the chromosomal content of DP rings, together with clinical, pathologic, and cytogenetic documentation of our first two cases, which were briefly reported earlier, and three new DP cases. To dissect a translocation (in our 2nd case), we probed by FISH and discovered chromosome 17 sequences in the rings in all five DP cases. Nonfluorescent bands were seen on some rings painted with a whole chromosome 17 probe, indicating the presence in these rings of foreign chromosome sequences. The complexity of the rings was underscored by the detection in only one case of chromosome 17 centromeric sequences. The situation in DP seems to have parallels to that in well-differentiated liposarcoma, another tumor of intermediate malignancy with extra abnormal marker chromosome containing contributions from a constant chromosome and variable donors. In DP the supernumerary rings are clearly specific and significant.

Adult↗

PubMed1996

Another case of t(17;22)(q22;q13) in an infantile dermatofibrosarcoma protuberans.

We have identified a new dermatofibrosarcoma protuberans (DP) case with a t(17;22) (q22;q13) occurring in a child. The translocation was substantiated by the presence of one or two copies of the sole der(22)t(17;22). This rearrangement added to two normal chromosomes 17 and one or two chromosomes 22, resulted in trisomy 22cen-q13 and trisomy (or tetrasomy) 17q22-25. This observation confirms the specificity of the association of DP with the t(17;22) found together with extra copies of the der(22)t(17;22). It also points out a possible prevalence of translocation rather than rings in DP of the childhood disease.

Antigens, CD34↗

PubMed1995

Surgical margins for excision of dermatofibrosarcoma protuberans.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) commonly recurs after standard surgical excision with a wide margin. No studies have been undertaken to objectively determine the appropriate surgical margins by measuring the extension of the subclinical tumor. OBJECTIVE: Our purpose was to measure the subclinical extent of tumor in 20 patients with DFSP to determine appropriate surgical margins. METHODS: We mapped the subclinical tumor extension with Mohs micrographic surgery and measured the surgical margins required to clear the tumor completely. RESULTS: We found that a 2.5 cm surgical margin through the deep fascia (nonscalp) or periosteum (scalp) cleared all of the tumors. DFSP tumors that measured less than 2 cm were completely cleared with a 1.5 cm surgical margin. None of our patients had a recurrence of the tumor, and in 16 of 20 patients repairs were possible. CONCLUSION: Our data support the use of Mohs surgery to excise DFSP with maximum conservation of tissue and a high cure rate.

Adult↗

PubMed1995

[Darier-Ferrand dermatofibrosarcoma in children].

BACKGROUND: Dermatofibrosarcoma is a tumor relatively ignored in childhood. CASE REPORT: A 11 year-old boy was referred because he suffered from a tumor of the neck, which had progressively developed after a cervical traumatism occurring 4 years earlier. Examination showed a tumor moderately infiltrated, attached to the overlying erythematous skin. Biopsy showed ill-limited dermal and hypodermal proliferation of fusiform cells with a storiform arrangement. Two successive excisions were necessary and the patient is well 2 years later. CONCLUSION: This case confirms responsibility of previous traumatism, progressiveness of course and necessity of large excision.

Child↗

PubMed2005

[To a margin reduction in the dermatofibrosarcoma protuberans? Retrospective study of 34 cases].

INTRODUCTION: The dermatofibrosarcoma protuberans (DFSP) is a rare but not exceptional tumour. Surgical treatment should contain a wide excision to avoid local recurrence. MATERIAL AND METHOD: We report a retrospective study of 34 cases treated by the same team from 1994 to 1999. In this series, only 4 cases (12%) presented recurrences after previous treatment by the other teams. In all cases, surgical resection was performed with 3 cm lateral margin and a disease free anatomic layer removed with the tumour. RESULTS: The mean of follow up was 60 months. There was no recurrence case in our 34 patients during this period. We compare our results with those, from others teams described in international literature since 1951. Margins and results are similar with some teams who practice the Mohs surgery. CONCLUSION: These data are in favour of a reduction of the lateral margins in classical surgical procedure of DFSP. They should be consolidated by a follow-up in longer term with a prospective study.

Adolescent↗

PubMed2005

Late recurrence of dermatofibrosarcoma protuberans in the female breast: a case report.

The case presented is of a 39-year-old female who, at the age of 13 years, had had a "dermatofibroma" excised from her left breast. Twenty-six years later she developed an unsightly "stretched scar". Excision biopsy demonstrated a dermatofibrosarcoma protuberans (DFSP). This was managed by wide local excision, preservation of the nipple-areolar complex, and immediate reconstruction with a pedicled latissimus dorsi flap. Review of the original histology confirmed the presence of DFSP, revising the original diagnosis. Most DFSPs recur within 3 years of primary excision. Such prolonged latency prior to recurrence has not been previously described. This reinforces the need to educate patients regarding the importance of long-term scar surveillance following skin tumour excision.

Adult↗

PubMed2004

Outcomes of surgery for dermatofibrosarcoma protuberans.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue sarcoma usually presenting as nodular cutaneous mass on the trunk and proximal extremity. The tumour grows slowly, typically over years. The standard treatment is wide local excision with at least a 3-cm margin. The local regional recurrence is up to 50%, emphasizing the need for wide margins for local control. A small fraction of DFSP may metastasize, but on histological examination such tumours have features of fibrosarcomas rather than DFSP. HYPOTHESIS: This study was done to review our experience of the time interval to recurrence of DFSP. DESIGN: A retrospective review was undertaken to identify patients with DFSP in our university teaching hospital. METHODS: All patients received their primary surgical treatment in our department between February 1968 and June 2001. Treatment consisted of wide local excision with margins of at least 3 cm. The chi-square test and Fisher's exact test were performed to determine the relationship between recurrence and clinicopathological variables. We evaluated the prognostic variables using the Kaplan-Meier method with log-rank comparison. RESULTS: The median follow-up period was 59 months. The 5 and 10-year disease-free survival (DFS) were 86 and 76%, respectively. The overall recurrence rate was 16.7%. The mean time to recurrence was 38+/-12 months (range 1-100 months). In 30% of those patients with recurrences, the local regional recurrence was after 5 years. CONCLUSION: Wide local excision with good margins decreases local regional recurrences in patients with DFSP. Close surveillance is necessary even beyond 5 years because late recurrences occur.

Adolescent↗

PubMed2004

Microsatellite instability and p53 mutation associated with tumor progression in dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is a dermal and subcutaneous tumor categorized as a tumor of intermediate malignancy, and its progression in some cases to fibrosarcoma is well known. However, molecular analysis of tumor progression has been limited. The present study investigated microsatellite instability (MSI) of 7 microsatellite markers through high-resolution microsatellite analysis in addition to a mutational analysis of the p53 gene in 44 tumors in 36 patients. The patients were divided into 2 groups: 9 patients with a fibrosarcomatous component in the primary or recurrent/metastasized tumor, designated as the DFSP+FS group, and the remaining 27 patients, designated as the DFSP group. Cases in which the percentage of markers with an additional peak among the markers successfully analyzed was more than 30% was considered MSI high (MSI-H); cases in which microsatellites were stable at all of the successfully examined markers were considered microsatellite stable (MSS); and the remaining cases were considered MSI low (MSI-L). MSI-H cases were observed more frequently in the DFSP+FS group (4 of 9 cases) than in the DFSP group (1 of 27 cases) (P = 0.028, Fischer's exact test). The MSI status of recurrent or metastatic tumors in both the DFSP+FS and the DFSP groups was the same as that in the corresponding primary neoplasms. Furthermore, there was no difference in MSI status between an ordinary DFSP area and a fibrosarcomatous area in 7 tumors that exhibited both areas. p53 mutational analysis revealed 10 point mutations, composed of 4 missense mutations and 6 silent mutations, in 6 of 36 cases (16.7%). A missense mutation was more frequently observed in the DFSP+FS group (3 of 4) than in the DFSP group (1 of 4). Among 3 cases of a missense mutation in the DFSP+FS group, 2 had a mutation only in a fibrosarcomatous area and 1 had a mutation only in a metastatic tumor progressing to fibrosarcoma. These results suggest that MSI and p53 mutations are involved in tumor progression of DFSP to fibrosarcoma as early and late events, respectively.

Adolescent↗

PubMed2005

Childhood dermatofibrosarcoma protuberans: role of preoperative imaging.

Dermatofibrosarcoma protuberans (DFSP) is especially challenging to recognize and diagnose in children. Prompt and definitive treatment is essential based on the tumor's high rate of recurrence. Our purpose is to increase physician awareness and recognition of DFSP in the pediatric population with the largest case series of childhood DFSP to our knowledge thus reported in the literature. We also propose that magnetic resonance imaging (MRI) may be useful in the preoperative assessment. The records of 10 patients with primary DFSP between the ages of 8 months and 16 years were reviewed. Only 1 of 10 patients was given the correct diagnosis at the initial medical evaluation. Of the 10 cases, 5 were congenital. The average delay in diagnosis was 5 years. Of the patients, 5 had preoperative MRI to delineate the size and extent of the tumor. In the two cases with the largest tumors preoperative MRI significantly altered surgical planning and execution. Thus, preoperative MRI may be helpful in planning for successful surgical clearance of large tumors and preventing local recurrence. All 10 cases were treated with Mohs micrographic surgery and no recurrences were noted with a follow-up range of 6 weeks to 17 years.

Adolescent↗

PubMed2006

Descriptive epidemiology of dermatofibrosarcoma protuberans in the United States, 1973 to 2002.

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.

Adolescent↗

PubMed2006

[Analysis of the COL1A1-PDGFB fusion gene in a case of dermatofibrosarcoma protuberans with a fibrosarcoma component].

Dermatofibrosarcoma protuberans (DFSP) is an infrequent tumor of intermediate malignancy, with little tendency to develop metastases but with a high rate of local recurrence. Cytogenetically, DFSP is characterized by a reciprocal translocation, t(17;22)(q22;q13), which is a conditioning factor in the fusion of the collagen type I alpha I gene (COL1A1) in chromosome 17q with the platelet-derived growth factor beta chain gene (PDGFB) in chromosome 22q. The fusion of these genes is variable, involving one of the 51 exons of the COL1A1 gene and exon 2 of the PDGFB gene. We present the case of a 37-year-old woman with a tumor on the arm whose histology showed a neoplastic infiltration of the subcutaneous cellular tissue made up of fusiform cells with an elongated nucleus in a storiform pattern and other more pleomorphic cells in a herringbone pattern, compatible with DFSP with a fibrosarcoma component. The molecular biology study with RT-PCR analysis of paraffin-embedded material and later sequencing showed a new fusion of exon 19 of the COL1A1 gene and exon 2 of PDGFB, supporting a diagnosis of DFSP. A study of the COL1A1-PDGFB fusion products is useful in cases where histology and immunohistochemistry are insufficient for the differential diagnosis of DFSP versus other sarcomas. It also justifies the use of new avenues of treatment with tyrosine kinase inhibitors.

Adult↗

PubMed2003

Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is an aggressive spindle cell neoplasm. It is associated with the chromosomal translocation, t(17:22), which fuses the COL1A1 and PDGFbeta genes. We determined the characteristic gene expression profile of DFSP and characterized DNA copy number changes in DFSP by array-based comparative genomic hybridization (array CGH). Fresh frozen and formalin-fixed, paraffin-embedded samples of DFSP were analyzed by array CGH (four cases) and DNA microarray analysis of global gene expression (nine cases). The nine DFSPs were readily distinguished from 27 other diverse soft tissue tumors based on their gene expression patterns. Genes characteristically expressed in the DFSPs included PDGF beta and its receptor, PDGFRB, APOD, MEOX1, PLA2R, and PRKCA. Array CGH of DNA extracted either from frozen tumor samples or from paraffin blocks yielded equivalent results. Large areas of chromosomes 17q and 22q, bounded by COL1A1 and PDGF beta, respectively, were amplified in DFSP. Expression of genes in the amplified regions was significantly elevated. Our data shows that: 1) DFSP has a distinctive gene expression profile; 2) array CGH can be applied successfully to frozen or formalin-fixed, paraffin-embedded tumor samples; 3) a characteristic amplification of sequences from chromosomes 17q and 22q, demarcated by the COL1A1 and PDGF beta genes, respectively, was associated with elevated expression of the amplified genes.

Adult↗

PubMed1998

Dermatofibrosarcoma protuberans and the Bednar tumor: treatment in the pediatric population.

Dermatofibrosarcoma protuberans (DFSP) is a low-intermediate-grade cutaneous sarcoma that has a marked propensity for local recurrence after excision. The Bednar variant of this tumor is even less common and is distinguished histologically by the dispersal of melanin containing cells in an otherwise typical DFSP. Both are considered to be tumors of the third and forth decades of life, but both DFSP and the Bednar variant have been described in children. Until this report of a congenital Bednar tumor, only the DFSP has also been described in the neonate. The histopathology and surgical management of DFSP and Bednar tumors are outlined with emphasis on reported experience in the pediatric population. The surgical management of these lesions in children is based on numerous series in adults and the limited pediatric experience. The recommended treatment is wide excision with 3-cm margins of visibly uninvolved tissue and inclusion of superficial fascia.

Dermatofibrosarcoma↗

PubMed2001

Supernumerary ring chromosomes in dermatofibrosarcoma protuberans may contain sequences from 8q11.2-qter and 17q21-qter: a combined cytogenetic and comparative genomic hybridization study.

Dermatofibrosarcoma protuberans (DFSP) presents with characteristic cytogenetic features such as reciprocal t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing sequences from chromosomes 17 and 22. Here, we report the identification of a novel abnormality in a 43-year-old woman with DFSP. Cytogenetic analysis of tumor cells showed the presence of a supernumerary ring chromosome as the sole anomaly. Amplification of 8q11.2 approximately qter and 17q21 approximately qter sequences was confirmed by comparative genomic hybridization (CGH); the present case apparently lacked amplification of chromosome 22. To our knowledge, this is the first case indicating that the ring chromosome in DFSP is possibly associated with amplified material from chromosomes 8 and 17.

Adult↗

PubMed2002

Overrepresentation of 17q22-qter and 22q13 in dermatofibrosarcoma protuberans but not in dermatofibroma: a comparative genomic hybridization study.

Histopathological differentiation between dermatofibrosarcoma protuberans (DFSP) and dermatofibroma (DF) is often difficult, because both neoplasms share some clinical features and the presence of a storiform pattern. In the present study, we investigated the usefulness of comparative genomic hybridization (CGH) in the diagnosis of these entities by examining 12 DFSP and 12 DF cases. The most frequent DNA sequence copy number changes detected in 10 (83%) of 12 DFSP cases (mean, 1.9 aberrations/tumor; range, 0-3) consisted of gains of 17q22-qter (10 tumors), 22q13 (nine tumors), and 8q24.1-qter (three tumors). High-level amplification, which was detected in three tumors, was seen only in chromosome 17, with 17q23-q25 as the minimal common region. Loss of DNA sequences was not found in DFSP cases. In contrast, two (17%) of the 12 DF cases (mean, 0.5 aberrations/tumor; range, 0-4) showed DNA sequence copy number changes, although recurrent gains and losses and high-level amplifications were not observed. Gains were more common than losses in DF. Overrepresentation of 17q and 22q sequences was a common finding in DFSP but not in DF. Thus, CGH seems to be useful for distinguishing DFSP from DF in most cases.

Adult↗

PubMed2003

Dermatofibrosarcoma protuberans of breast.

We describe the case of a 57-year-old woman with a tumor of the breast suspected of being a dermatofibrosarcoma protuberans (DFSP). To confirm the diagnosis, molecular studies were performed on fixed tumor and revealed the presence of the fusion product of the COL1A1-PDGFB genes characteristic of DFSP.

Breast Neoplasms↗

PubMed2003

Pedunculated presentation of dermatofibrosarcoma protuberans.

A 26-year-old patient had a dermatofibrosarcoma protuberans that clinically was considered to represent either a skin tag or neurofibroma. Histopathologically, this lesion could easily have been misinterpreted as a neurofibroma, particularly in the context of the clinical findings.

Adult↗