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PubMed2003

Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon infiltrative tumor of the dermis with characteristic cytogenetic features, specifically the translocation t(17;22)(q22;q13) which often manifests as a supernumerary ring chromosome r(17;22). The translocation results in the fusion of two genes, collagen type I alpha 1(COL1A1) and platelet-derived growth factor B-chain (PDGFB). The trunk and extremities are the anatomic sites of predilection for DFSP, whereas the vulva and groin are quite uncommon sites of involvement. METHODS: This investigation evaluated seven DFSPs (four vulvar and three groin) for the presence of COL1A1-PDGFB fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR), using archival formalin-fixed, paraffin-embedded tissue. RESULTS: Six of seven cases (three vulvar, three groin) contained a COL1A1-PDGFB fusion transcript. Sequence analysis of the PCR products revealed that the break-point of the COL1A1 gene was located after exon 40 in two patients, after exon 42 in one patient, after exon 44 in one patient, and after exon 47 in two patients; the break-point in the PDGFB gene was before exon 2 in all cases. No fusion transcript could be amplified in one case. CONCLUSIONS: As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP. The transcripts can be detected in formalin-fixed, paraffin-embedded tumor tissues, and have the same general pattern of exon boundaries as in DFSP at other sites.

Adolescent↗

PubMed2003

CD44 and hyaluronate in the differential diagnosis of dermatofibroma and dermatofibrosarcoma protuberans.

The histological distinction between dermatofibroma (DF) and dermatofibrosarcoma protuberans (DFSP) may be extremely difficult. CD34 and Factor XIIIa have been used to differentiate DF from DFSP. However, there is an overlap and relative lack of specificity of their expressions. CD44 is a widely distributed integral membrane glycoprotein, which is expressed as a multitude of isoforms generated by alternative splicing of at least 10 different variant exons and post-translational modifications. CD44 is currently thought to be the principal cell surface receptor for hyaluronate (HA), the major component of the extracellular matrix. In this study we aimed to assess the expression of standard CD44 (CD44s) and its isoforms (CD44v3, CD44v4, CD44v5, CD44v6, CD44v7, CD44v7v8, and CD44v10), and HA in DF and DFSP. Immunohistochemical staining was performed on the biopsy specimens of 15 cases of DF and four cases of DFSP, using antibodies that recognize the CD44s, different CD44 isoforms and the hyaluronate binding protein (HABP). Tumor cells displayed a strong CD44s immunoreactivity in all cases of DF whereas a faint HA positivity was observed in the tumor stroma. The DF cells were negative for CD44v3, CD44v4, CD44v6, CD44v7 and CD44v7v8 but showed a strong reactivity for CD44v5 and CD44v10. In contrast, CD44s' expression was significantly reduced or absent in all DFSP lesions and the tumor stroma displayed strong staining for HA. Our results indicate that CD44 and HA can be used as additional diagnostic markers to distinguish DF from DFSP.

Dermatofibrosarcoma↗

PubMed1997

Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.

Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific features such as reciprocal translocations t(17;22)(q22;q13) and supernumerary ring chromosomes derived from the t(17;22). In this report, the breakpoints from translocations and rings in DP and its juvenile form, giant cell fibroblastoma (GCF), were characterised on the genomic and RNA level. These rearrangements fuse the platelet-derived growth factor B-chain (PDGFB, c-sis proto-oncogene) and the collagen type I alpha 1 (COL1A1) genes. PDGFB has transforming activity and is a potent mitogen for a number of cell types, but its role in oncogenic processes is not fully understood. COL1A1 is a major constituent of the connective tissue matrix. Neither PDGFB nor COL1A1 have so far been implicated in any tumour translocations. These gene fusions delete exon 1 of PDGFB, and release this growth factor from its normal regulation.

Chromosome Breakage↗

PubMed1998

Transforming activity of the chimeric sequence formed by the fusion of collagen gene COL1A1 and the platelet derived growth factor b-chain gene in dermatofibrosarcoma protuberans.

As a consequence of a reciprocal translocation t(17;22)(q22;q13) and of supernumerary ring chromosomes derived from the t(17;22), a fusion between the platelet-derived growth factor b-chain (PDGF, c-sis proto-oncogene) and the collagen type 1A1 (COL1A1) genes has been recently described in dermatofibrosarcoma protuberans (DP), an infiltrating skin tumor (Simon et al., 1997). Although PDGFB has been implicated in transforming processes via autocrine and paracrine pathways, by the activation of the cognate receptor, no direct evidence of its involvement in neoplastic transformation of human tumours has been so far provided. In this report, we have tested the DNA from four DPs in the classical DNA transfection assay onto NIH3T3 fibroblast cell line. All the DNAs induced the formation of transformed foci in the transfected cultures whose derived cell lines were shown to contain a fused sequence comprising the human COL1A1 and PDGF genes. The relative breakpoint regions have been sequenced revealing that this gene fusion deleted exon 1 of PDGF and released the growth factor from its normal regulation. All the biochemical and biological assays were consistent with the model of an autocrine mechanism for NIH3T3 transformation by the human rearranged PDGFB gene involving the activation of the endogenous PDGF receptor.

3T3 Cells↗

PubMed2001

Structural and functional analysis of a chimeric protein COL1A1-PDGFB generated by the translocation t(17;22)(q22;q13.1) in Dermatofibrosarcoma protuberans (DP).

Dermatofibrosarcoma protuberans (DP), an infiltrative skin tumour of intermediate malignancy, presents specific cytogenetic features such as reciprocal translocations t(17;22)(q22;q13.1) or supernumerary ring chromosomes derived from t(17;22). We have previously shown that both rings and translocated chromosomes derived from t(17;22) presented the same molecular rearrangement with fusion of the COL1A1 gene on chromosome 17 to the PDGFB gene on chromosome 22. To study the structure and function of the COL1A1-PDGFB chimeric protein, we used a tumour-derived chimeric COL1A1-PDGFB cDNA to perform stable and transient transfections in the Chinese hamster lung fibroblastic cell line PS200 and the human epithelial cell line HEK293. We demonstrated that the stably transfected clones that expressed the COL1A1-PDGFB chimeric protein became growth factors independent and tumorigenic in nude mice. In addition, COL1A1-PDGFB transfected cell supernatants significantly stimulated fibroblastic cell growth, through the activation of the PDGFB receptor pathway. By using anti-PDGFB and specific anti-COL1A1-PDGFB antibodies, we showed that, similar to PDGFB, the COL1A1-PDGFB chimeric proteins are processed in transfected cells into mature PDGFB dimers. These results strongly suggest that the COL1A1-PDGFB chimeric gene expression associated with DP, induces tumours formation through production of mature PDGFB, in an autocrine or paracrine way. Strikingly, mutagenesis experiments indicated that uncleaved COL1A1-PDGFB forms are mitogenic and therefore could contribute, as well as mature PDGFB, to the establishment of a transformed phenotype.

Animals↗

PubMed2004

Dermatofibrosarcoma protuberans association with nuchal-type fibroma.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a hypercellular, storiform, CD34-positive low-grade sarcoma with honeycomb entrapment of fat, which typically involves the trunk and extremities. Nuchal-type fibroma (NTF ) is a paucicellular, CD34-positive fibrous tumor with fat entrapment, which may occur in both nuchal and extranuchal locations and in association with Gardner syndrome. METHODS: We report the association of DFSP with NTF in a 43-year-old male with no personal or family history of Gardner syndrome. RESULTS: The patient had a past history of a DFSP removed from his back, which recurred 2 years later and was re-excised. Additionally, the patient had a typical NTF, in the posterior neck, removed at the same time. Histopathologic examination of the recurrent back lesion demonstrated a composite lesion with typical appearances of DFSP, centrally, blending into an NTF-like appearance, peripherally. Both components expressed CD34 and CD99, and lacked elastin. A review of the microscopic slides of the patient's previously excised DFSP revealed an identical lesion with surrounding NTF-like areas. CONCLUSION: While an association between NTF and fibromatosis has recently been reported, this is to our knowledge the first report of an association between NTF and DFSP. The morphologic findings suggest that there may be a continuum between these two CD34-positive lesions that have a tendency to infiltrate adipose tissue and recur.

12E7 Antigen↗

PubMed2001

Dermatofibrosarcoma protuberans: experience with 14 cases.

Dermatofibrosarcoma is a rare, low-grade malignant skin tumour that can be considered the equivalent of malignant non-cutaneous soft tissue fibrohistiocytoma. The high rate of recurrence of this tumour is correlated with poor surgical management because lesions, often smaller than 2 cm in diameter, may be confused with dermatofibroma or keloid. Our findings confirm the importance of accurate diagnosis of primary lesions and the need for aggressive surgical treatment (excision of 5 cm of surrounding tissue) to lower the incidence of local relapse.

Adult↗

PubMed2003

Nodular sclerotic change in dermatofibrosarcoma protuberans: a potential diagnostic problem.

Nodular sclerotic change in dermatofibrosarcoma protuberans (DFSP) is not a well-recognized event. Sclerotic change is reported in three patients with DFSP: a 33-year-old woman with a left subclavian mass, a 29-year-old woman with a mass on the left crus and a 31-year-old man with a mass on the left cheek. Histologically, lesions consisted of two types of feature, one type being typical of DFSP and the other being rich in collagen. In the first patient, each type formed a distinct compartment, each of which contained scattered cells containing melanin pigment. In the second patient, foci with typical DFSP histology were distributed within the collagen-rich area and also formed a substantial compartment in the periphery of the lesion, with pigmented cells being distributed mainly in and around the cellular area. In the third patient, the collagenous area occupied about half of the lesion. There was no pigmentation. In all three cases the collagen-rich area contained sparsely distributed fibroblast-like cells that stained positive with CD34. Sclerotic change in DFSP could cause substantial difficulty in diagnosis if the biopsy material were partial and small. The clinical history and knowledge about the existence of this kind of histological variation in DFSP are important.

Adult↗

PubMed2003

A case of childhood dermatofibrosarcoma protuberans without detected cytogenetic abnormality.

Dermatofibrosarcoma protuberans (DFSP) is a rare, infiltrative skin tumour of intermediate malignancy, with a limited potential for metastasis but a high rate of recurrence; specific cytogenetic abnormalities are now known. Childhood DFSP has been considered a rarity in the past, but it is now recognized that many cases of childhood DFSP are diagnosed only in adulthood. Despite advances in the understanding of its pathogenesis as well as the development of valuable immunohistochemical and cytogenetic diagnostic techniques, there often remains a significant delay between the initial presentation and diagnosis of DFSP. We report a case of childhood DFSP in which the diagnosis was reached only after a nodular lesion developed in a plaque that was initially present. Causes for delay between initial presentation and diagnosis in childhood DFSP are discussed. Histology and immunostaining in our patient showed the typical features of DFSP, but the G-banded cytogenetic analysis of short-term tissue culture was negative. However, this technique offers only a detection rate between 50% and 80%. Clinicians should be aware of the limitations of newer diagnostic techniques. Increasing recognition amongst paediatricians and paediatric dermatologists that childhood DFSP is not as rare as once believed will probably lead to the use of newer diagnostic methods at an earlier stage, and so reduce the delay between the onset of symptoms and diagnosis.

Biopsy↗

PubMed2003

Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript.

BACKGROUND: Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been described in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. Objectives We examined the breakpoint of the COL1A1 gene using the tumour specimen from the patient with DFSP. METHODS: Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumour cells. Nucleotide sequence analysis was carried out using the PCR product to identify the breakpoint. RESULTS: The COL1A1-PDGFB fusion transcript was detected from the tumour specimen. Sequence analysis revealed that exon 18 of the COL1A1 gene was fused with exon 2 of the PDGFB gene. CONCLUSIONS: This study identified a novel COL1A1 breakpoint, namely, exon 18 of the COL1A1 gene.

Adult↗

PubMed2000

Palisading and verocay body-prominent dermatofibrosarcoma protuberans: a report of three cases.

UNLABELLED: The aim of this report is to draw attention to nuclear palisading and Verocay body formation as peculiar, previously undescribed histological findings in rare instances of dermatofibrosarcoma protuberans (DFSP). METHODS AND RESULTS: Three indurated, nodular or plaque skin lesions were diagnosed as DFSP on the basis of their storiform proliferation of spindle-shaped cells diffusely infiltrating the dermis and subcutaneous tissue. Sclerosing and giant cell areas were also identified. Unexpectedly, conspicuous nuclear palisading was also noted in all cases and Verocay body formation was present in two. Immunostains were positive for CD34 and negative for S100 protein in every instance. Proliferating cells were seen to display fibroblast-like features by ultrastructural study of one case. CONCLUSIONS: DFSP may rarely show a schwannoid histological appearance as the result of nuclear palisading and even Verocay body formation. In this setting, both the search for DFSP characteristic morphologic features and the performance of CD34 and S100 protein immunohistochemistry will facilitate the correct diagnosis.

Antigens, CD34↗

PubMed2004

Dermatofibrosarcoma protuberans--an update.

Dermatofibrosarcoma protuberans (DFSP) is a rare fibroblastic skin tumor of intermediate malignancy. Its pathogenesis has not yet been fully clarified. Recent basic genetic research has shown chromosomal translocations, generally termed "ring chromosomes", in DFSP. These arise from a fusion of chromosome regions 17q22 and 22q13, the gene loci which code the alpha chain of type I collagen. The diagnosis is made histologically. Differentiation from atypical dermatofibroma and dermatomyofibroma, as well as from malignant fibrous histiocytoma, whose prognosis is usually much less favorable, can be improved by immunostaining for CD 34 and Factor XIIIa. The extent of the tumors can be estimated by CT and more precisely with MRI. All these techniques fail to detect the fine tumor fascicles extending into the adjacent connective tissue and fat. Surgery is the therapy of choice for DFSP. The locally infiltrative growth pattern features clinically inapparent extensions which often extend for long distances in a horizontal direction. These tumor extensions are best detected by uninterrupted histological check of all margins, including the base (3-D-histology), with paraffin sections. Re-excision of tumor-positive areas until tumor-free margins are obtained ("histographic surgery") insures a high cure rate (97%) while preserving normal tissue.

Dermatofibrosarcoma↗

PubMed1999

Dermatofibrosarcoma protuberans: an early non-protuberant phase of the tumour.

A 40-year-old female patient presented with a flat scar like plaque on the upper chest. The patient's perception of subtle change in the lesion was of paramount importance in the decision to biopsy this lesion of innocuous clinical appearance. Histopathological findings were those of dermatofibrosarcoma protuberans. This case illustrates the early clinical features of the tumour and a recommendation for taking a biopsy of any scar-like plaque where there is no clear history of preceding trauma.

Adult↗

PubMed1999

Dermatofibrosarcoma protuberans: an analysis of proliferative activity, DNA flow cytometry and p53 overexpression with emphasis on its progression.

The aim of this study is to evaluate the degree and spectrum of malignancy of dermatofibrosarcoma protuberans (DFSP) in the aspect of proliferative activity, flow cytometric DNA analysis, and p53 immunoreactivity. Twenty-three tumors from 19 cases of DFSP including three cases of DFSP with fibrosarcomatous areas (DFSP-FS) were studied in comparison with its allied fibrohistiocytic tumors; that is, dermatofibroma (DF; 46 cases), fibrosarcoma (FS; four cases), and malignant fibrous histiocytoma (MFH; 11 cases). MIB-1 labeling index (LI) of DFSP was significantly higher than that of DF and was lower than those of FS and of MFH. In ordinary DFSP, the recurrent tumors exhibited significantly higher MIB-1 LI than that of the primary tumors, whereas the primary tumors showed almost the same proliferative activity of DF. DFSP-FS tended to have a higher proliferative activity than DFSP without FS-area (ordinary DFSP). In five of 19 cases of DFSP, aneuploidy (near-diploidy) was found in four recurrent and one primary tumors. Immunohistochemical p53 overexpression was found in three of 19 cases of DFSP which also showed higher proliferative activity and aneuploidy. All cases of DF were immunohistochemically negative for p53, but most of the cases of FS and MFH were positive. Although DFSP has been classified in a category of fibrohistiocytic tumor of intermediate malignancy, the recurrent DFSP, DFSP-FS, and DFSP with aneuploidy and/or p53 overexpression could be a subgroup of DFSP with more aggressive clinical behavior than ordinary primary ones.

Adolescent↗

PubMed2002

Dermatofibrosarcoma protuberans: a clinicopathological study of 20 cases.

AIM: To review the dinical and histological data of 20 cases of dermatofibrosarcoma protuberans presenting at two dermatology centres in Lisbon from 1978 to 1998. PATIENTS AND METHODS: The 20 subjects comprised nine males and 11 females ranging in age from 25 to 79 years, with highest frequency of subjects in the 30-50 year olds. We reviewed the clinical features, histopathological aspects, including morphologic variants and immunohistochemical studies. RESULTS: Median age at diagnosis was 51 years and the trunk was the most frequent location. The characteristic histologic storiform pattern was seen in all cases. Three subjects presented fibrosarcomatous areas, one with myoid differentiation and another with multinucleated giant cells. Immunohistochemical stains revealed CD34 expression in the 18 specimens tested, FXIIIa was negative, and these two antigens proved important for the differential diagnosis of this neoplasm. Local wide excision was performed in 13 cases and seven patients underwent Moh's micrographic surgery. Follow-up ranged from 2 months to 17 years and three recurrences were recorded, two following classical surgery and one after Moh's surgery; there was no difference in the rate of local recurrence (15%) for the two kinds of treatment in our series.

Adult↗

PubMed1999

Adjuvant therapy with hyaluronidase prior to excision of dermatofibrosarcoma protuberans.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) are uncommon, low grade cutaneous malignancies, which rarely metastasize. Although surgery is the main therapy for these tumors, they commonly recur in spite of wide excisions. Hyaluronidase (HD) has been used both intralesionally as well as intravenously as an adjuvant in therapy of both epithelial and mesenchymal malignancies to decrease local spread, to potentiate differentiation induced apoptosis, and to potentiate the tissue penetration of chemotherapeutic agents. In addition, there is a long history of intralesional HD use without significant complications. The biologic characteristics of DFSP including the observation that hyaluronic acid is commonly present and sometimes is increased in these tumors and the known effects of HD therapy in other malignancies suggested to us that HD pretreatment may be a helpful adjuvant in the surgical management of DFSPs. Following diagnostic biopsy of a recurrent DFSP, the patient was treated for 4 weeks with intralesional HD injections. RESULTS: Based on margins necessary for complete excision from past studies, this patient had decreased margin width and thus had a postoperative wound size less than was expected. The patient has had no evidence of recurrence at 24 months follow-up.

Chemotherapy, Adjuvant↗

PubMed2000

Use of the double-bladed scalpel in peripheral margin control of dermatofibrosarcoma protuberans.

BACKGROUND: The double-bladed scalpel previously has not been cited in the published literature for use in Mohs micrographic surgery. OBJECTIVE: To allow for maximum tissue conservation and greatest possible intraoperative efficiency for peripheral margin control of a massive tumor. METHODS: We describe the use of the double-bladed scalpel during Mohs surgery for peripheral margin control of a large dermatofibrosarcoma protuberans (DFSP). RESULTS AND CONCLUSION: While not necessary for the majority of routine Mohs cases, utilization of the double-bladed scalpel may be timesaving, especially when used for peripheral margin control of a massive tumor.

Adult↗

PubMed2000

Dermatofibrosarcoma protuberans growing around plantar aponeurosis: excision by Mohs micrographic surgery.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a spindle cell malignancy that has a high local recurrence rate after excision with minimal or no immediate tissue margin assessment. DFSP is exceedingly rare on the palms and soles. OBJECTIVE: To report a case of a locally aggressive DFSP on the sole excised using Mohs micrographic surgery. METHODS: Case report and review of the literature. RESULTS: Mohs micrographic surgery unmasked tumor infiltration that extended around plantar aponeurosis and into underlying plantar muscle fascia. CONCLUSION: Mohs micrographic surgery should be considered the treatment of choice for DFSP, especially in acral locations. This technique allows the surgeon to trace out deep tumor extensions that may wrap around underlying tendon, a finding that may not be appreciated clinically.

Adult↗