Case Of Dermatofibrosarcoma Protuberans Research Articles

The role of next-generation sequencing in achieving diagnostic precision for dermatofibrosarcoma protuberans and its fibrosarcomatous variant.

e23531 Background: Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive skin and subcutaneous fibroblastic neoplasm, characterized by COL1A1:: PDGFB fusions and, less frequently, PDGFD fusions. Approximately 10-15% of DFSP cases progress to distant metastases, yet the genetic mechanisms behind this transformation to fibrosarcomatous DFSP (FS-DFSP) or metastatic development remain unclear. Reports of DFSP in deeper tissues suggest a broader occurrence than previously recognized. We hypothesize that conventional histopathology may not adequately identify certain DFSP variants, especially those in deep tissues, potentially missing critical opportunities for targeted therapy with FDA-approved tyrosine kinase inhibitors. Methods: We searched Caris’s database to identify solid tumors with PDGFB or PDGFD fusions, markers of DFSP or FS-DFSP. We reviewed histologic features and clinical information, along with exome sequencing and copy number amplifications. Significance was tested using Mann Whitney U and Fisher’s exact tests as appropriate. Results: We identified 59 cases with PDGFB or PDGFD fusions: 55 COL1A1:: PDGFB, 3 EMILIN2:: PDGFD, and 1 COL1A2:: PDGFB cases. Of these, 51 were primary specimens and 8 metastatic. The patients included 31 males and 28 females, with a median age of 49 years (range: 14-93). Primary tumors occurred mainly in the skin/subcutis or deep soft tissues (35 trunk, 9 head and neck, 7 lower extremity, 2 upper extremity), but 6 were found in visceral organs (4 uterus, 1 cervix, 1 lung). Histologically, 20 cases were conventional DFSP and 32 were FS-DFSP. Notably, 21 tumors (36%) had been initially misclassified; most of which had metastatic presentation, unusual histology, or atypical location. Tumor sequencing revealed a higher incidence of genetic changes in addition to the PDGFB/ PDGFD fusions: concurrent mutations were detected in 66% of FS-DFSP cases versus 25% of DFSP cases (p = 0.009). Moreover, tumor mutational burden was significantly higher in FS-DFSP than DFSP (p = 0.006). The most prevalent mutations were in the TERT promoter and NF1, found exclusively in FS-DFSP cases. Conclusions: Conventional histology commonly fails to recognize FS-DFSP, leading to missed opportunities for targeted therapy. This highlights the essential role of next-generation sequencing in achieving greater diagnostic accuracy for DFSP and its fibrosarcomatous variant. While no single gene mutation consistently differentiates DFSP from FS-DFSP, the occurrence of additional genetic alterations is notably more common in FS-DFSP cases.

Dermatofibrosarcoma Protuberans on the Occipital Scalp Showed Uncommon Presentation: A Case Report

Dermatofibrosarcoma protuberans (DFSP) is a rare soft tissue sarcoma, with an incidence of about 0.8% to 5% per million people per year, accounting for 1% of soft tissue sarcomas. In its early stage, DFSP is typically found as a violet or pinkish macule or patch, and it can develop into a palpable mass with ulceration or bleeding. The standard treatment for DFSP is wide local excision of the tumor with a 2- to 3-cm negative margin, and radiation therapy or chemotherapy can be conducted with surgical treatment. A 35-year-old man had a palpable mass on the left side of his occipital scalp without color change, ulceration, or bleeding, which typically are present in malignancy. A magnetic resonance imaging (MRI) scan showed a 3-cm homogenous enhanced mass without adhesion between the scalp and the mass. Unexpectedly, a biopsy revealed the round mass to be DFSP. A wide excision and rotation of the scalp flap were performed. The patient recovered without any complications and received adjuvant radiotherapy at a dose of 60 Gray (Gy) for six weeks. There was no recurrence through six months of follow-up. Here we report this unique case of DFSP with atypical presentation.

Analysis of surgical margins and prognostic factors in dermatofibrosarcoma protuberans after wide local excision: Amulticenter study of 116 Japanese patients.

Cutaneous dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor characterized by a high risk of local recurrence but a low risk of metastasis. Wide local excision (WLE) has been an important treatment option, but its clinical outcomes and safety have not been thoroughly evaluated in previous reports. The aim of this study was to determine appropriate surgical margins (deep and lateral) and prognostic factors associated with recurrence-free survival (RFS) of DFSP. A database collected by two dermatology departments in Japan was retrospectively reviewed to identify 116 patients with DFSP who underwent complete resection with WLE between 1994 and 2021. Sixty-one men (53%) and 55 women (47%) were included in our cohort. The primary sites of DFSP were as follows: 11 head and neck (9%); seven face (7%); 12 upper extremities (10%); 20 lower extremities (17%); and 66 trunk (57%). There were 103 cases (89%) of primary DFSP and 13 cases (11%) of recurrent DFSP. Total 10-year RFS was 96.6%. There were significant differences in RFS by tumor size (median size: 3 cm), disease status (primary versus recurrent DFSP), and fibrosarcomatous change (positive versus negative) (all p < 0.05). Two patients (1.7%) with buccal or head lesions had positive deep margins. In all cases, the lateral margin was negative at the postoperative evaluation. Tumor size, disease status, and fibrosarcomatous change are important risk factors for recurrence. Both face and head-neck lesions were more likely to have positive deep margins than other anatomic areas in DFSP. Although this study was limited by its retrospective design, a narrow 2-cm lateral margin is especially considered for low-risk patients.

A novel method of assessing intraoperative surgical margins in patients with dermatofibrosarcoma protuberans: A specimen radiography system.

Background Dermatofibrosarcoma protuberans (DFSP) is one of the most challenging cutaneous cancers in surgical clinic practice. Excision with negative margins is essential for effective disease control. However, wide surgical margins and maximal tissue conservation are mutually exclusive. Mohs micrographic surgery conserves tissue but is time-consuming. Thus, we developed a novel specimen radiography system that can be used intraoperatively. Aims To introduce a specimen radiography system for evaluating intraoperative surgical margins in patients with dermatofibrosarcoma protuberans. Methods Since September 2017, we have treated seven biopsy-proven cases of local DFSPs via local excision with surgical margins of 2-4 cm. During operations, the operative specimens were screened using the specimen radiography system. All surgical specimens were pathologically examined intraoperatively. Results Five patients were men and two were women, of median age 36 years. The mean radiographic screening time was 9.7 ± 2.3 min. Radiographically negative margins were confirmed intraoperatively. The minimal margin width ranged from 5.0 to 35.4 mm (mean width 16.9 ± 10.4 mm). The intraoperatively negative radiographic margins were consistent with those revealed by postoperative pathology. The minimal pathological margin width ranged from 4.0 to 34.5 mm (mean 16.6 ± 10.1 mm) and was not significantly different from the intraoperative data. Limitations The sample size was small and positive or negative predictive values were not calculated. Conclusions We introduce a novel method of intraoperative surgical margin assessment for DFSP patients. It may find broad clinical and research applications during oncoplastic surgery.

Molecular Pathogenesis and Histological Variability of Dermatofibrosarcoma Protuberans

Dermatofibrosarcoma protuberans (DFSP) is a kind of infrequent tumor of the soft tissues distinguished by its gradual proliferation and a preference for regional reoccurrence, despite its limited capacity for metastasis. At the molecular level, a significant majority of DFSP cases manifest the t (17;22) (q22; q13) chromosomal translocation, resulting in the fusion of the collagen type I alpha chain (COL1A1) gene and platelet-derived growth factor B chain (PDGFB) gene. This fusion results in PDGFB overexpression, consequently activating the PDGF Receptor-beta (PDGFR-β). The activated PDGFR-β serves as a central nexus for numerous intracellular signaling pathways, initiating cascades including Phosphatidylinositol 3-kinase (PI3K)/Akt, Mitogen-Activated Protein Kinase (MAPK)/extracellular signal-regulated kinase (ERK), and STATs pathways. These cascades collectively enhance DFSP cell growth, proliferation, and invasiveness. Histologically, DFSP tumors are predominantly fibroblastic and display distinct immune cell infiltration patterns in their microenvironment. Elevated expression of CD4+ naïve cells, CD4+ Th2 cells, CD8+ central memory T cells, B cells, and macrophages is evident, while levels of CD4+ central memory T cells and eosinophils are diminished. Immunohistochemical analyses further highlight that most DFSP cells exhibit positive cytoplasmic CD34 expression, whereas factor XIIIa and α-smooth muscle actin are notably absent. Clinically, DFSP presents in diverse subtypes, each characterized by its unique histological profile. Prominent subtypes encompass classic DFSP, fibrosarcomatous DFSP (FS-DFSP), pigmented DFSP, giant cell fibroblastoma, myxoid DFSP, atrophic DFSP, and the granular cell variant. This review aspires to deliver an exhaustive insight into DFSP, accentuating its molecular underpinnings and clinical presentation, with the ultimate goal of advancing our understanding and management of this distinct dermatological entity.

The Burden of Skin Cancers in Saudi Arabia Through 2011-2022.

Introduction Skin cancers are classified into melanoma and non-melanoma or keratinocyte cancers. No recent data are found about the epidemiology of skin cancers in Saudi Arabia. The current study aims to determine the burden of skin cancer in the last 11 years from 2011 to 2022. Methods Patients who were diagnosed with any type of skin cancer were enrolled in the study. The diagnosis was conducted based on histopathology and immunohistochemistry. Different variables like age, type of cancer, type of lesions, and treatment approach used were measured. Results A total of 91 patients were diagnosed with skin cancers during the study period. The head and neck were the most common sites for skin cancers. Only 4/91 cases reported invasive melanoma. Both squamous cell carcinoma (SCC) (34/91) and basal cell carcinoma (BCC) (28/91) were found to be the most reported skin cancers. Other cancers including mycosis fungoides (MF) (10/91), Kaposi's sarcoma (6/91), and dermatofibrosarcomaprotuberans (DFSP) (5/91) were also detected. The rest of the detected tumors were rarely detected. Aggressive CD4+/CD4+/CD8+ MF was more prevalent than CD3+/CD4+/CD8- MF cancer cases. CD34+ /S100- DFSP cancers were evident in most of the DFSP cases. Human herpes virus 8 was detected in all Kaposi's sarcoma cases and all of them were HIV-confirmed cases. Surgical treatment was the most frequently used approach to treat skin cancers, followed by phototherapy (9.9%), surgical/radiotherapy (5.5%), surgical/chemotherapy (4.4%), chemotherapy (3.3%), and then chemoradiotherapy immunotherapy (1.1%). Conclusion The incidences of SCC and BCC are relatively high in comparison to other types of skin cancers with the surgical intervention being most frequently used.

Establishment and characterization of NCC-DFSP4-C1: a novel cell line from a patient with dermatofibrosarcoma protuberans having the fibrosarcomatous transformation.

Dermatofibrosarcoma protuberans (DFSP) is a superficial low-grade sarcoma, genetically characterized by a fusion gene in collagen type I α (COL1A1) gene and platelet-derived growth factor subunit β (PDGFB). DFSP is locally aggressive and does not typically metastasize. However, DFSP with fibrosarcomatous transformation, which occurs in 7-16% of DFSP cases, demonstrates a poor prognosis than classic DFSP with a higher local recurrence rate and metastatic potential. Although imatinib, a PDGF receptor inhibitor, is a potent therapeutic agent for classic DFSP, it is less effective for DFSP with fibrosarcomatous transformation. The development of definitive chemotherapies for DFSP with fibrosarcomatous transformation is required. Patient-derived tumor cell lines are indispensable tools for preclinical research to discover novel therapeutic agents. However, only seven cell lines were derived from DFSP, out of which only two were established from DFSP with fibrosarcomatous transformation. Hence, in the present study, we established a novel DFSP cell line, NCC-DFSP4-C1, from a surgically resected DFSP tumor specimen with fibrosarcomatous transformation. NCC-DFSP4-C1 harbored an identical COL1A1-PDGFB fusion gene as its donor tumor. NCC-DFSP4-C1 cells retained the morphology of their donor tumor and demonstrated constant proliferation, spheroid formation, and invasion capability in vitro. By screening a drug library, we found that bortezomib and romidepsin demonstrated the strongest suppressive effects on the proliferation of NCC-DFSP4-C1 cells. In conclusion, we report a novel cell line of DFSP with fibrosarcomatous transformation, and demonstrate its utility in the development of novel therapeutic agents for DFSP.

A Case of a Large, Painful Dermatofibrosarcoma Protuberans Arising from a Traumatic Scar

Here we report a case of dermatofibrosarcoma protuberans (DFSP) that presented originally to the emergency department with chief complaint of ‘chest pain arising from a chest wall mass’. This case is unique for multiple reasons including the fact that the DFSP caused this patient severe pain that radiated from the site of the mass to the patient’s back. The lesion originated from a traumatic scar that the patient had obtained following a car accident two years prior to presentation. In addition, the DFSP was significantly larger in size than what has typically been reported in the literature. This case illustrates that DFSP has the potential to present with multiple atypical features.

Recurrent dermatofibrosarcoma protuberans of the breast: A case report and review of literature

Dermatofibrosarcoma protuberans (DFSP) is a rare and low-grade sarcoma of fibroblast origin with a tendency to invade and recur locally. The most common sites of origin of DFSP are the head, neck, and extremities. However, DFSP breast has also been reported. It infiltrates surrounding subcutaneous tissue and fascia, with an incidence of &lt;2% for lung metastases. Surgery being the main modality of the treatment, literature has shown that radiation therapy also plays an important role to improve local control in case of recurrent tumors. In this article, we will be discussing one such rare case of DFSP in a recurrent setting and the role of radiation therapy.

Congenital Atrophic Dermatofibrosarcoma Protuberans: A Case Report and Review of the Literature

Dermatofibrosarcoma protuberans (DFSP) is a rare mesenchymal tumor of intermediate malignant potential. The neoplasm is locally aggressive with a high rate of recurrence. It typically presents in adults. Atrophic congenital DFSP is extremely rare. The few reported cases have presented as a morphea-like plaque that persists for years, before progressing into a nodular form. To our knowledge, congenital atrophic DFSP has been only reported fourteen times, and of those, only nine were confirmed by molecular studies. Herein we report a congenital case of atrophic DFSP, which initially presented as a bruise-like atrophic plaque on the dorsal forearm, initially mistaken for child abuse. The clinical appearance, histopathology, and molecular features of this rare form of DFSP are reviewed. Our case highlights the importance of early detection and adequate sampling of congenital DFSP; early treatment allows for treating small lesions without large, disfiguring, and potentially disabling excisions.

VULVAR DARIER-FERRAND DERMATOFIBROSARCOMA: UNUSUAL LOCALIZATION OF A RARE TUMOR

Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade sarcoma of dermal origin that rarely presents in the vulva, typically occurring on the trunk of young to middle-aged adults. Even though it has a low potential for distant metastases, it often recurs locally. Therefore, surgical excision is the treatment of choice. We report a case of DFSP with fibrosarcoma transformation involving the vulva treated by large excision with tumor free margins followed by plastic reconstruction. Our object is to highlight this rare disease and through literature evaluate the safety and efficacy of surgical treatment. Early recognition of this rare entity whose localization and the aggressive nature of the fibrosarcomatous component will be an issue in the surgical management.

Unusual presentation of Giant Dermatofibrosarcoma Protuberans

Dermatofibrosarcoma protuberans (DFSP) is an uncommon, soft tissue sarcoma with a low metastatic potential but high rate of recurrence after surgical intervention. This tumor is characterized by a long history of slow growth. DFSP usually occurs on trunk and proximal extremities but rarely touches distal extremities such as hands, fingers, or foot below knees. We present a case of giant DFSP of the distal extremity, with a post-traumatic onset in childhood and a very long course. A 45-year-old patient presented with a tumoral lesion of the foot, evolving since 35 years with an onset at the age of 10 years, after a strong trauma of the 3rd toe. Physical examination revealed a reddish purple polynodular neoplastic lesion with a firm consistency. One of these nodular masses was ulcerated with areas of necrosis. The CT scan did not detect any bone involvement. Magnetic resonance imaging revealed a heterogeneously enhancing mass lesion on the dorsal aspect of the left forefoot. In depth, this mass invaded the dorsal interosseous muscles. The histopathological study was in favor of DFSP, with evidence of spindle-shaped tumor cells arranged in a storiform pattern. On immunohistochemistry (IHC), the cells expressed intense and diffuse CD34 and were negative for Desmin and S-100. The localization or occurrence of DFSP after a long period of trauma should not mislead the diagnosis. A careful histological study with IHC should be carried out in order to set up an appropriate treatment.

Dermatofibrosarcoma protuberans - an atypical tumor with a typical diagnostic dilemma: a case report

Dermatofibrosarcoma protuberans (DFSP) is a rare tumor of dermal fibroblast. Diagnosis poses a challenge to every surgeon. Its propensity to recur can be attributed to its characteristic finger-like projections, misdiagnosis, and incomplete excision. Wide local excision with adequate margins may lead to functional defects and cosmetic blemishes. Most cases undergoing second surgery warrants reconstructive procedure which might further complicate the management. We report a case of DFSP, initially misdiagnosed and underwent incomplete excision, later presented with recurrence and atypical features. High-grade suspicion is of paramount importance for ascertaining the diagnosis of DFSP and its appropriate treatment.

Retrospective Analysis of a Modern Cohort of Dermatofibrosarcoma Protuberans From 2000 to 2018.

There is limited data on how demographics, tumor characteristics, and treatment methods affect overall survival in patients with dermatofibrosarcoma protuberans (DFSP). To summarize characteristics of patients with DFSP, assess prognostic factors, and evaluate the impact of treatment modality on their overall survival. We investigated DFSP using data for 4451 patients with histologically confirmed cases of DFSP diagnosed between 2000 and 2018 from the 18 US regional registries of the National Cancer Institute's Surveillance, Epidemiology, and End Results (SEER) Program. Older age (P < .001) and large tumor size (P = .006) were significantly associated with worse overall survival in controlled analysis. Older age (P < .050), males (P < .001), non-white race (P < .001), and lower median household income (P < .010) were more likely to present with larger tumor size. Different treatments were associated with patient characteristics. Older age (P < .001), non-white race (P < .032), larger tumor size (P < .001), and head/neck location (P < .001) were associated with patients receiving surgery and radiation instead of surgery only. Additionally, men (P < .021), non-whites (P < .001), lower median household income (P < .001), and larger tumor size (P = .003) were less likely to have Mohs micrographic surgery performed over excision. Age at presentation and tumor size appeared to be notable prognostic factors. Although treatment modality did not significantly influence patient survival, certain patient characteristics are associated with different treatment modalities.

Giant dermatofibrosarcoma protuberans head and neck: a diagnostic dilemma.

Dermatofibrosarcoma protuberans (DFSP) is rare, generally slow growing tumor, originating from dermal stem cell or undifferentiated mesenchymal cell. DFSP primarily occurs on the trunk and proximal extremities, with reported only 10-15% occurring in the head and neck region. There can be varied presentations of DFSP in atypical sites mimicking a benign appearance and history due to which diagnostic dilemmas can occur. The underlying malignancy needs to be unveiled by histopathology and immunohistochemistry which reveals bland spindle cells in sub epithelium arranged in whorled storiform pattern which was CD34+, suggestive of dermatofibrosarcoma protuberans. Surgical excision is the treatment of choice, wherever possible. We herein report two intriguing cases of DFSP in uncommon sites.

Epidemiological trends and survival outcomes for dermatofibrosarcoma protuberans of the head and neck region.

Given the rarity of dermatofibrosarcoma protuberans (DFSP) of the head and neck, the incidence and prognosis specific to this region are poorly defined. The purpose of this study was to determine epidemiology, clinicopathological characteristics, and prognostic factors of patients with DFSP of the head and neck region, using the Surveillance, Epidemiology, and End Results (SEER) database. A cohort analysis was performed for primary head and neck DFSP reported to the SEER database between 2000 and 2018. Overall survival was determined using Kaplan-Meier analysis while Cox regression modeling was used to examine predictive factors. A total of 681 cases were reported to the SEER database between 2000 and 2018. Incidence rates decreased over time. Overall survival was 94%, and disease-specific survival was 99% at 5 years. Cases of head and neck DFSP were found to occur more frequently in males. There was no difference in incidence rates between White patients and Black patients. Age ≥ 60 years old, tumor size, and living location were the most significant predictors of overall survival. This analysis of DFSP of the head and neck demonstrates a downward trend in incidence, higher age-standardized incidence in males, and similar race-based incidences, which differs from data reported on DFSP of other anatomic locations.

Dermatofibrosarcoma Protuberans - Case Report and Review of Literature

Dermatofibrosarcoma protuberans (DFSP) is an uncommon, slow-growing, locally aggressive soft tissue sarcoma of the skin. The most common age of presentation for this entity of dermis is the third to fifth decade of life, whereas the most common site of involvement is the trunk and lower extremities, accounting for a total of 70 to 90 percent of the cases. Head and neck regions account for 10 to 15 percent of cases with the involvement of the scalp being the most common presentation in this region of the body.[1]&#x0D; Although DFSP frequently shows local recurrence with the incidence of 20-50 percent of the cases, distant metastasis has been reported rarely.[2] So the cure rate in early diagnosed cases is high with a 10-year survival rate of 99.1 %, so prompt diagnosis of the entity is important along with awareness about the disease.[3] Here in this article, we are going to present a case of DFSP along with a review of the literature regarding the imaging characteristics of the disease.

A unique case of Dermatofibrosarcoma Protuberans arising from an inguinal hernial repair scar in a Middle Eastern male - A Case Report.

Introduction and importanceDermatofibrosarcoma Protuberans (DFSP) is a rare and fatal variant of Spindle Cell Sarcoma. It has an annual incidence rate of 0.8 to 4.5 cases per one million individuals. It's locally aggressive and has vague and masquerading clinical presentations. Misdiagnosis is devastating as it can lead to time wasting, expenditure of unnecessary resources, and possibly raise morbidity and mortality for patients. It is warranted to raise preoperative clinical awareness to achieve prompt surgical therapeutic interventions to reach an up-to-par prognosis.Case presentationWe demonstrate the case of a 50-year-old previously healthy Middle Eastern male patient, who was referred to our General Surgery clinic with the chief complaint of an expansive bulge in his left iliac fossa. Preoperative imaging could not exclude a neoplastic cause behind the presentation. Based on the clinical picture, a surgical intervention was decided.Clinical discussionOur patient's treatment was consummated by means of classical surgical resection of the lesion with adequate negative margins and referring him to an oncologist specialized in DFSP to undergo the necessary adjuvant treatment. Definitive diagnosis was firmly entrenched postoperatively after finalization of the histopathological and immunohistochemical analyses of the resected protuberance.ConclusionDFSP is an eminently rare entity, especially DFSPs which originate from a surgical scar -as was our patient's- and fluctuates in its clinical presentation, thus, it is our responsibility to depict, study this malignant tumor, and document its incidence, so that we can make ironclad clinical decrees to plummet the morbidity and mortality of this relentless neoplasia.

Dermatofibrosarcoma protuberans of perianal region: a rare case report

Dermatofibrosarcoma protuberans (DFSP) is a rare locally aggressive slow growing soft tissue sarcoma with very low metastatic potential with high local recurrence rates. We presented a rare case of DFSP of left perianal region ulcerating into anal canal, we did wide excision with 3 cm margin along with abdominoperineal excision of rectum and permanent colostomy, defect is reconstructed with left pedicled antero-lateral thigh flap. DFSP has high chance of recurrence, it should be excised with at least 2-3 cm 3D margin and patient should be followed up for a long time.

DERMATOFIBROSARCOMA PROTUBERANS OF THE MONS PUBIS - A RARE CASE REPORT

Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumour that involves the dermis, subcutaneous fat and in rare cases, muscle and fascia.The tumour typically presents as a slowly growing, firm plaque on the trunk of young adults. It has intermediate malignant potential with a tendency for local recurrence. The treatment generally involves wide local excision with negative margins. It rarely involves the vulva and not many such cases have been reported in literature. In this case report, the authors describe a case of DFSP involving the mons pubis in an elderly female.