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PubMed2004

Fine-needle aspiration of primary and recurrent dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is a nodular cutaneous mesenchymal tumor of intermediate malignancy. Studies on fine-needle aspiration of DFSP are extremely rare; to our knowledge, only 33 cases have been reported. We have reviewed 14 examples of DFSP in 13 patients. Ten primary tumors were aspirated before surgical biopsy and four recurrent lesions (all from superficial lesions) were also investigated by fine-needle aspiration. All smears were surprisingly homogeneous and composed of isolated spindle cells in all cases (one unsatisfactory smear is excluded). Tissue fragments with a stroriform pattern were seen in 11 cases, fibrillary stromal fragments in 10 cases, naked nuclei in 8 cases, slight to moderate cytonuclear atypia in 5 cases. Mitotic figures, myxoid background, mast cells, and dispersed adipocytes were rare. Giant cells, necrosis, or marked cytonuclear atypia were not seen. DFSP shares morphological characteristics of some low-grade spindle-cell neoplasms. It should be differentiated from other benign low- and intermediate-grade spindle neoplasm such as low-grade fibrosarcoma, fibromyxosarcoma, low-grade malignant peripheral nerve sheath tumor, benign peripheral nerve sheath tumor, nodular fasciitis, and fibrous histiocytoma.

Adolescent↗

PubMed2005

FNA diagnosis of dermatofibrosarcoma protuberans.

Fine-needle aspiration (FNA) features of primary and recurrent dermatofibrosarcoma protuberans (DFSP) in two patients were evaluated and correlated to ancillary studies and clinical data. The tumors developed in the skin and subcutaneous tissue of the back in both patients. The cytological findings included clusters and dispersed uniform or slightly atypical spindle cells, collagenous matrix, and, in one case, cell clusters with a storiform pattern. Both tumors were diagnosed correctly when FNA was complemented by ancillary studies (immunostaining) and clinical data. FNA features alone are not sufficiently characteristic to permit a confident diagnosis of DFSP. Correct diagnosis requires an awareness of the clinical history and the use of ancillary studies.

Adult↗

PubMed2003

Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment.

Dermatofibrosarcoma protuberans (DP) is a rare, slow-growing, infiltrating dermal neoplasm of intermediate malignancy, made up of spindle-shaped tumor cells often positive for CD34. The preferred treatment is wide surgical excision with pathologically negative margins. At the cytogenetic level, DP cells are characterized by either supernumerary ring chromosomes, which have been shown by using fluorescence in situ hybridization techniques to be derived from chromosome 22 and to contain low-level amplified sequences from 17q22-qter and 22q10-q13.1, or t(17;22), that are most often unbalanced. Both the rings and linear der(22) contain a specific fusion of COL1A1 with PDGFB. Similar to other tumors, the COL1A1-PDGFB fusion is occasionally cryptic, associated with complex chromosomal rearrangements. Although rings have been mainly observed in adults, translocations have been reported in all pediatric cases. DP is therefore a unique example of a tumor in which (i) the same molecular event occurs either on rings or linear translocation derivatives, (ii) the chromosomal abnormalities display an age-related pattern, and (iii) the presence of the specific fusion gene is associated with the gain of chromosomal segments, probably taking advantage of gene dosage effects. In all DP cases that underwent molecular investigations, the breakpoint localization in PDGFB was found to be remarkably constant, placing exon 2 under the control of the COL1A1 promoter. In contrast, the COL1A1 breakpoint was found to be variably located within the exons of the alpha-helical coding region (exons 6-49). No preferential COL1A1 breakpoint and no correlation between the breakpoint location and the age of the patient or any clinical or histological particularity have been described. The COL1A1-PDGFB fusion is detectable by multiplex RT-PCR with a combination of forward primers designed from a variety of COL1A1 exons and one reverse primer from PDGFB exon 2. Recent studies have determined the molecular identity of "classical" DP, giant cell fibroblastoma, Bednar tumor, adult superficial fibrosarcoma, and the granular cell variant of DP. In approximately 8% of DP cases, the COL1A1-PDGFB fusion is not found, suggesting that genes other than COL1A1 or PDGFB might be involved in a subset of cases. It has been proposed that PDGFB acts as a mitogen in DP cells by autocrine stimulation of the PDGF receptor. It is encouraging that inhibitory effects of the PDGF receptor tyrosine kinase antagonist imatinib mesylate have been demonstrated in vivo; such targeted therapies might be warranted in the near future for treatment of the few DP cases not manageable by surgery.

Animals↗

PubMed2001

Spectral karyotyping reveals 17;22 fusions in a cytogenetically atypical dermatofibrosarcoma protuberans with a large marker chromosome as a sole abnormality.

The presence of an extra ring chromosome containing material from 17q and 22q, or, less frequently, a t(17;22)(q22;q13), is a cytogenetic hallmark of dermatofibrosarcoma protuberans (DFSP). However, occasionally tumors with other, atypical karyotypes are encountered. We describe a case of recurrent DFSP without a ring chromosome or a t(17;22) on standard cytogenetic analysis. In all cells analyzed by G-banding, an additional, large marker chromosome was present as a sole abnormality. This chromosome apparently included chromosome 8 or the 8q arm, but the origin of its remaining part could not be determined with certainty. To characterize further the abnormal chromosome, we applied spectral karyotyping (SKY). SKY confirmed the presence of an extra chromosome 8 or arm 8q in the marker and showed that its remaining part was composed of segments from chromosomes 7, 17, 21, and 22, with two copies of a 17;22 fusion. Our results and the literature data suggest that, in addition to a specific 17;22 fusion, amplification of material from chromosomes 17, 22, 8, 5, 7, and 21 may play a role in DFSP development and/or progression. Furthermore, our case demonstrates the usefulness of SKY in detection of a diagnostically relevant 17;22 fusion in DFSP patients who have unusual karyotypic features.

Adult↗

PubMed1995

Involvement of chromosomes 17 and 22 in dermatofibrosarcoma protuberans.

Literature on the cytogenetics of dermatofibrosarcoma protuberans (DFSP) is limited; only 10 cases with chromosome aberrations have been reported. They are karyotypically characterized by the presence of supernumerary ring(s), either as the sole cytogenetic abnormality or together with a few additional structural or numerical changes. We report the cytogenetic and fluorescence in situ hybridization (FISH) analysis of three new DFSP, one primary and two recurrent tumors. In two cases we found a supernumerary ring as the sole change, whereas the third had two copies of a marker chromosome and monosomy of chromosome 22. Sequences of chromosomes 17 and 22 were identified by FISH in the supernumerary rings and in the markers. The fluorescence pattern suggested that additional sequences were present in the two rings, but showed that the marker chromosomes were entirely painted by chromosome 17 and 22 probes. The findings indicate that juxtaposition and/or amplification of chromosome 17 and 22 sequences could be crucial in the pathogenesis of DFSP.

Adult↗

PubMed2002

Differential sensitivity to imatinib of 2 patients with metastatic sarcoma arising from dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is a rare superficial sarcoma usually affecting the trunk, with significant risk of local recurrence. It is characterized by the presence of ring chromosomes or chromosomal translocations fusing the promoter of the collagen gene COL1A1 to the platelet-derived growth factor beta-chain gene PDGFB, increasing the production of PDGF locally and promoting autocrine or paracrine tumor growth. Fewer than 5% of patients with DFSP develop metastatic sarcoma, with a poor subsequent prognosis. Imatinib (STI-571) was developed as an inhibitor of the PDGF receptor tyrosine kinase and has proven clinical activity against chronic myelogenous leukemia (expressing bcr-abl) and gastrointestinal stromal tumors (expressing c-kit). We describe 2 patients with metastatic and unresectable metastases from DFSP treated with imatinib. After confirmation of negative CD117 status of 2 sarcomas arising from DFSP, patients were given imatinib 400 mg po qd and assessed at regular intervals for their tolerance and response to therapy. One patient had a transient response, then progressed rapidly and died of disease. Another patient showed a partial response to therapy after 2 months, with resolution of superior vena cava syndrome and shrinking of metastatic lung lesions. His response is ongoing after 6 months of therapy. These clinical data confirm findings from models of DFSP and support the use of imatinib in the rare setting of metastatic DFSP. Imatinib may be useful for patients with locally advanced DFSP, when other options for local therapy are limited.

Adult↗

PubMed2001

Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans.

The diagnosis of fibrosarcoma has become relatively rare since the recognition and definition of certain adult spindle-cell sarcomas, such as monophasic synovial sarcoma, malignant peripheral nerve sheath tumour (MPNST), and malignant fibrous histiocytoma (MFH). Although most adult fibrosarcomas occur within intra- or inter-muscular fibrous tissues, some originate from superficial soft tissues (superficially located adult fibrosarcomas) (SAFs). Recently, the COL1A1-PDGFB chimeric gene resulting from a reciprocal translocation, t(17;22), and/or a supernumerary ring chromosome, r(17;22), has been identified, not only in conventional dermatofibrosarcoma protuberans (DFSP) but also in areas of DFSP with progression to fibrosarcoma (so-called fibrosarcomatous transformation) (FS-DFSP). Since many SAFs are clinically and histologically similar to DFSP or FS-DFSP, this study postulated that the two groups may be interrelated histogenetically. To test this hypothesis, a reverse transcription-polymerase chain reaction (RT-PCR) assay was conducted to determine whether COL1A1-PDGFB fusion transcripts could be detected in six cases of SAF, using archival formalin-fixed, paraffin-embedded tissues. COL1A1-PDGFB fusion transcripts were detected in four of six SAFs, whereas no such fusion transcripts could be amplified in five deep-seated fibrosarcomas, eight congenital/infantile fibrosarcomas or 28 other spindle-cell tumours and tumour-like lesions. These results show that at least some cases of SAF are genetically similar to DFSP and FS-DFSP, suggesting that some SAFs originate from DFSP or involve similar pathogenetic mechanisms.

Adult↗

PubMed2005

Imatinib mesylate: an attractive alternative in young children with large, surgically challenging dermatofibrosarcoma protuberans.

To document the clinical activity of imatinib mesyalte in a child with a dermatofibrosarcoma protuberans (DFSP). An 18-month-old girl presented with a large extremity DFSP. As surgical resection would have caused unacceptable functional defects, imatinib mesylate was administered to induce tumor reduction and or stabilization. After 23 weeks of therapy, magnetic resonance imaging (MRI) of the tumor showed a reduction in the subcutaneous thickness in the transverse plane. The drug was tolerated well without any adverse reactions. Imatinib mesylate offers a non-surgical alternative for the treatment of large DFSP in children.

Benzamides↗

PubMed1993

Dermatofibrosarcoma protuberans: increased growth response to platelet-derived growth factor BB in cell culture.

Dermatofibrosarcoma protuberans (DFSP) is a malignant tumor originating in the dermis. Although it is locally aggressive and recurs unless completely excised, it only rarely metastasizes. In the present study, we established 4 cultured DFSP cell strains, which were almost identical to normal skin fibroblasts when observed under a phase-contrast-microscope, and we observed their responses to various growth factors. DFSP cells showed significantly greater response to platelet-derived growth factor BB(PDGF BB) and transforming growth factor beta 1(TGF beta 1) than normal fibroblasts. We also determined upregulation of PDGF beta receptors in DFSP cells by both 125I PDGF-BB binding assay and immunoblotting analysis. These findings suggest that the interaction between the PDGF-B chain and the overexpression of PDGF beta receptors might play a role in the development of DFSP tumors.

Cell Division↗

PubMed1998

Metastatic dermatofibrosarcoma protuberans of the vulva.

Dermatofibrosarcoma protuberans (DFSP) of the vulva is a rare, low- to intermediate-grade sarcoma of dermal origin. This case report represents the 13th reported patient with vulvar DFSP and the first reported patient with metastatic vulvar DFSP. Although metastasis is rare, the possibility remains that the frequent recurrence of DFSP will eventually metastasize. Therefore, patients must be followed up on a long-term basis to monitor the progress of this potentially lethal cancer.

Antigens, CD34↗

PubMed2000

Dermatofibrosarcoma protuberans of the vulva: a case report and review of the literature.

OBJECTIVE: The purpose of this study is to describe the management of a patient with dermatofibrosarcoma protuberans (DFSP) of the vulva and to review the literature. METHODS: A 39-year-old was referred by a district hospital for incomplete excision of a vulval mass. The lesion involved the left labium major and measured 8 x 12 cm. The lesion was reexcised with a 3-cm margin of normal skin. RESULTS: The patient made an uneventful postoperative recovery. Histology confirmed a diagnosis of DFSP with clear margins. Immunohistochemistry was positive for CD34 glycoprotein. CONCLUSIONS: DFSP of the vulva is a rare fibrous tumor of intermediate grade malignancy, with a tendency for local recurrence. However, it rarely metastasizes. Management should be multidisciplinary and Mohs' micrographic surgery is generally advocated to ensure precise margin control. Survival rates range from 91 to 100%, and local recurrence rates of 20 to 49% have been reported. Therefore close follow-up is recommended.

Adult↗

PubMed1994

[Differences between plaque-like variants of dermatofibrosarcoma protuberans and plaque-like dermal fibromatosis (dermatomyofibroma)].

On the basis of two cases the differences between the plaque-like variant of dermatofibrosarcoma protuberans (PDFSP) and the plaque-like dermal fibromatosis (synonym: dermatomyofibroma; PDF) are presented. PDFSP and PDF are two clinically very similar dermal fibrous proliferations, but differentiation is important because of their different therapy and prognosis. Histologically and immunohistochemically PDFSP and PDF can be recognized as separate entities.

Aged↗

PubMed1994

[Subclinical spread of dermatofibrosarcoma protuberans and resulting treatment modalities].

Dermatofibroma protuberans is a rare malignant tumour with a high rate of local recurrence. This is attributable to the tumour's characteristic of forming subclinical, pseudopodium-like outgrowths. Between 1981 and 1991 we treated 23 cases of dermatofibrosarcoma (9 primary tumours, 14 recurrences of tumours following initial treatment elsewhere) using the method of micrographic surgery with paraffin sectioning. Tumour size and localization were taken as parameters, along with the excision depth and the safety margin required for elimination of all tumour cells. The safety margin required for complete extirpation ranged from 5 to 60 mm. On average, recurring tumours infiltrated twice as far beyond the clinically visible tumour margin (22.4 mm) as primary tumours (10.0 mm). Up to now, no localized recurrences have been found in any patient. The therapy used here can be designated as the method of choice.

Adult↗

PubMed2006

Excellent survival of pediatric dermatofibrosarcoma protuberans in Taiwanese.

The purpose of this study was to explore the clinical outcome of pediatric dermatofibrosarcoma protuberans (DFSP) in Taiwan. Patients with DFSP diagnosed before 18 years and treated in our institute from 1977 to 2002 were identified through institutional cancer registry. After approved by institutional research ethic committee, active patient contact and linkage with National Residency Registry were done to explore their clinical outcome (Clinical Trials gov Identifier: NCT00173355). Twelve patients were identified. Pathological review confirmed DFSP for all of them. All of them underwent wide excision and none of them underwent neoadjuvant or adjuvant therapy. Nine patients underwent operation as initial therapy and three of them underwent salvage therapy. We recognized only one uncontrollable local recurrence and subsequent death. The 10-year and 15-year overall survival rates were 100 and 83%, respectively, without obvious complications. The prognosis of pediatric DFSP in Taiwanese was excellent.

Adolescent↗

PubMed2000

A case of dermatofibrosarcoma protuberans of the vulva with a COL1A1/PDGFB fusion identical to a case of giant cell fibroblastoma.

Dermatofibrosarcoma protuberans (DFSP) is a highly recurrent low-grade soft tissue sarcoma, which is usually located on the trunk. Presentation in the vulva is rare, with only 13 cases being reported to date, none of which have been investigated at the cytogenetic or molecular level. Specific cytogenetic abnormalities, involving chromosomes 17 and 22, are characteristic features of DFSP and giant cell fibroblastoma (GCF), a tumor closely related to DFSP. These chromosomal rearrangements result in the fusion of the COL1A1 and PDGFB genes in both lesions and show wide variation in the position of the fusion point in COL1A1. Here, we describe a case of DFSP of the vulva with a typical monotonous storiform pattern, with no foci of multinucleated giant cells. Cytogenetic analysis showed a 47,XX,+r karyotype in 50% of the cells, and molecular investigation disclosed the presence of a transcript fusing COL1A1 exon 37 to PDGFB exon 2. This is the first case of DFSP showing such a fusion point, which is intriguingly identical to that found in a GCF case, indicating that the COL1A1/PDGFB fusion point position does not seem to affect tumor morphology. This finding further underlines the very close relationship between these two morphologically distinct entities.

Adult↗

PubMed1998

Supernumerary ring chromosomes and nuclear blebs in some low-grade malignant soft tissue tumours: atypical lipomatous tumours and dermatofibrosarcoma protuberans.

We investigated the diagnostic significance of supernumerary ring chromosomes in low-grade soft-tissue neoplasms. Chromosome slides were prepared from 123 samples of soft-tissue tumours using the standard trypsin-Giemsa banding technique. Supernumerary ring chromosomes were found in 6 cases of soft tissue tumours: 5 cases of atypical lipomatous tumour (ALT) and 1 case of dermatofibrosarcoma protuberans (DFSP). By chromosome painting with fluorescence in situ hybridization (FISH), the ring chromosome in 1 ALT was painted over its entire length with the chromosome 12 probe. Nuclear blebs and micronuclei, which were observed in each case of ALT, also contained chromosome 12 material; and these structures may represent a topological distribution of ring or giant marker chromosomes in the interphase nuclei. Our findings suggest that supernumerary ring chromosomes are characteristic of some low-grade soft tissue neoplasms including ALT and DFSP.

Adult↗

PubMed2004

Pancreatic metastasis of dermatofibrosarcoma protuberans.

Dermatofibrosarcoma protuberans (DFSP) is a relatively rare skin tumor that is considered to have intermediate malignancy; it demonstrates frequent local recurrence, but systemic metastasis is rare. We report a 49-year-old woman with pancreatic metastasis of DFSP who underwent total pancreatectomy with partial resection of the portal vein. Except for our patient, only two other cases of pancreatic metastasis of DFSP have been reported in the literature, to our knowledge. Radical resection may be considered for pancreatic metastasis of DFSP when there are no other metastatic lesions.

Abdominal Neoplasms↗

PubMed2000

Dermatofibrosarcoma protuberans of the head and neck.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) of the head and neck is a rare, locally infiltrative, low-grade sarcoma. This study defines the clinical behavior of DFSP, evaluates the role of frozen section analysis, and identifies factors that predict local control. METHODS: Hospital records and pathological slides were reviewed for 33 patients with pathologically confirmed head and neck DFSP treated at Memorial Sloan-Kettering Cancer Center between 1964 and 1999. Factors were analyzed by using Fisher's exact or chi2 tests. RESULTS: For 21 primary and 12 recurrent patients, median age and tumor size at presentation was 39 years and 2.0 cm, respectively. Thirty-two (97%) patients were alive at a median follow-up of 82 months. Three patients recurred locally, all with smaller than 2-cm resection margins. Deep tumors were more likely to have a margin-positive resection than superficial lesions (P = .03). Gross margin 2 cm or more was a significant predictor of a negative histological margin (P<.001). There was a trend toward improved recurrence-free survival for tumors treated with wide (> or =2 cm) margin resection (P = .059). Accuracy, sensitivity, specificity, and false negative rates of frozen section were 80%, 43%, 100%, and 57%, respectively. CONCLUSIONS: Wide margin resection of head and neck DFSP predicts negative histological margins and impacts favorably on local recurrence-free survival. Frozen section analysis does not assess resection margins accurately.

Adult↗