Anterior Abdominal Wall Dermatofibrosarcoma Protuberans: A Rare Case.

Dermatofibrosarcoma protuberans is an uncommon, indolently progressive, locally aggressive soft tissue neoplasm that characteristically arises from the dermal and subcutaneous layers. While excision is the primary treatment modality, addressing defects following tumor removal can be challenging, particularly in cases involving the anterior abdominal wall. This publication paper presents a case study of a patient with dermatofibrosarcoma protuberans in the anterior abdominal wall, detailing the surgical approach and subsequent defect repair using skin grafting. We also provide a comprehensive review of the clinical presentation, diagnostic methods, surgical options, and outcomes associated with dermatofibrosarcoma protuberans in this unique location.

Dermatofibrosarcoma Protuberans in a 12-Year-Old Child: A Rare Case.

Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor involving the dermis and subcutaneous fat that rarely occurs in children, manifested as a slowly growing firm plaque on the trunk. A 12-year-old girl patient presented with dark patch on the nasal root after finishing 25 sessions of radiotherapy. Initially, patient came to Oncology Surgery Clinic at Hasan Sadikin General Hospital Bandung with the chief complaint of a large exophytic mass located in the nasal area, which was neither itchy nor painful. A large, firm, painless mass with no sign of localized heat or redness was found on physical examination. There were no palpable cervical or axillary lymph nodes. Wide local excision and frontal flap procedure were performed by Oncology Surgery Department leaving a pedicle with 2×1.5×1 cm on size was observed. Upon histopathological examination, tumor mass was found in the subepithelium and consisted of oval to spindle-shaped cells that were hyperplastic, compacted, diffuse, forming fasciculus, whorled, and cartwheel. Cell nuclei were pleomorphic (oval to wavy), hyperchromatic, with clear nucleolus, and occasion mitotic figures. Hyalinisation was seen between the tumor masses. On immunohistochemical stains, there were diffuse positivity for epithelial membrane antigen (EMA) and vimentin. Based on the histological and immunohistochemical findings, the diagnosis of stage II DFSP was made. Until now, there is no established algorithm for treatment of DFSP. Wide local excision and radiotherapy for 25 sessions was performed on this patient, resulting in complete tumor mass removal. After three months of observation, the second surgery was done to remove a pedicle; however, there is no recurrence of tumor growth. Despite its rarity, DFSP should be considered as a differential diagnosis to avoid underdiagnosis or misdiagnosis.

Dermatofibrosarcoma protuberans of the breast: A rare breast tumor mimicking a cutaneous lesion.

INTRODUCTION AND IMPORTANCE: Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor which generally affects people from the second to the fifth decades of life, with the same incidence in both sexes. DFSP can appear as a slow-growing, flesh-colored or erythematous plaque or nodule, often becoming protuberant if untreated. CASE PRESENTATION: We report two cases of DFSP. The first case regards a 22-year-old woman with a 1.5-centimeter, mobile nodule of hard-elastic consistency in the left breast initially suspected to be a sebaceous cyst. Ultrasound and MRI suggested benign features, but histopathological examination post-excision confirmed DFSP. The second patient come to our attention is a 54-year-old woman with a 6 mm erythematous lump in the right breast, which reached 22 mm after two years. Mammography and histological examination post-excision confirmed DFSP. Both patients underwent to wide local excision and after four years of follow-up no recurrence or complications are observed. CLINICAL DISCUSSION: DFSP is a soft tissue sarcoma with low metastatic potential but requires early diagnosis and surgical excision to avoid malignant transformation. There are no standardized guidelines for its diagnosis and treatment. Imaging techniques, including ultrasound, CT, and MRI, are crucial to define tumor extension and planning surgical intervention. Surgical excision with clear margins is the primary treatment, but there are also emerging treatments as Mohs micrographic surgery or Imatinib Mesylate therapy for unresectable cases. CONCLUSION: Our cases highlight the importance of an accurate diagnostic evaluation and effective surgical management to achieve favorable outcomes.

Low-grade dermatofibrosarcoma protuberance - A rare case report.

Dermatofibrosarcoma protuberans (DFSP) is a slow-growing, soft-tissue tumour of early or mid-adult life, affecting both the genders equally. The most common sites are soft tissue of the trunk (50 to 60%), followed by proximal extremities (20 to 30%) and the head and neck region (10 to 15%). Its metastatic potential is low though the local recurrence rate is high. Here, we report a case of a female patient with a large soft tissue growth located at the right cheek, chin and neck region. Local excision was done under the impression of a benign tumour such as lipoma or sebaceous cyst. Histological evaluation showed bland spindle cells arranged in a storiform pattern questioning the provisional diagnosis of the lesion. Further evaluation with the immunohistochemistry (IHC) panel confirmed the diagnosis of DFSP. Since it is a rare tumour of the head and neck region with non-alarming initial presentation and the potential for erroneous diagnosis as another lesion, we present a case of DFSP.

High-frequency ultrasound-assisted Mohs micrographic surgery for the treatment of dermatofibrosarcoma protuberans.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a superficial sarcoma characterized by infiltrative growth with tentacle-like borders. Mohs micrographic surgery (MMS) is the preferred treatment option for DFSP. However, the imprecise boundary localization in MMS leads to an increased number of Mohs layers required and a longer surgery time. High-frequency ultrasound has excellent tissue recognition capability for DFSP, allowing for precise boundary marking. MATERIALS AND METHODS: In this study, we retrospectively analyzed 14 cases of DFSP treated with MMS using preoperative ultrasound localization and three-dimensional reconstruction at Xiangya Hospital over the past 5 years. We also reviewed previous studies on MMS for DFSP treatment. RESULTS: It was found that the average number of Mohs layers for patients after preoperative ultrasound localization was 1.57, ranging from 1 to 3, which was less than the previously reported 1.86 layers, ranging from 1 to 12. This effectively reduced the number of Mohs layers required. CONCLUSIONS: By utilizing preoperative high-frequency ultrasound to determine the boundaries and depth of DFSP, the number of Mohs layers can be effectively reduced, leading to less workload for pathological examination, shorter operation time, and reduced surgical risks for patients. Ultrasound imaging data can be used for three-dimensional reconstruction, enabling less experienced Mohs surgeons to have a visual understanding of the morphology and extent of infiltration of the lesions. This aids in developing optimal surgical plans, smoothing the learning curve, and promoting the wider adoption of MMS.

Slow Mohs Micrographic Surgery and Reconstruction With Artificial Dermis for Atrophic Dermatofibrosarcoma Protuberans: A Case Report.

This case report describes the utility of artificial dermis in reconstruction for atrophic dermatofibrosarcoma protuberans (DFSP) after slow Mohs micrographic surgery (MMS). A 34-year-old man presented as a slowly growing nodule from an atrophic scar on his right chest for over 10 years. The pathology report confirmed the diagnosis of atrophic DFSP. Further magnetic resonance imaging (MRI) revealed a 9.3 cm x 6.5 cm cutaneous-subcutaneous lesion with close contact with the pectoralis major muscle. The patient underwent a slow MMS, and we utilized a rotational flap in combination with synthetic xenogeneic artificial dermis to reconstruct the final 13 cm x 12 cm defect.

Recurrence of a dermatofibrosarcoma protuberans? Rare case.

Dermatofibrosarcoma protuberans (DFS) is a mesenchymal-origin skin tumor with intermediate malignancy. Though rare, it's not exceptional, comprising about 0.1% of malignant skin tumors. The authors discuss clinical, radiological, histopathological studies, and various therapeutic modalities for this tumor. Our 82-year-old patient presented with a 3 cm swelling on the right arm, initially undergoing biopsy followed by surgical excision of the mass. Adjuvant treatment with radiotherapy or chemotherapy is unnecessary unless recurrence or malignant transformation occurs. Histological analysis is crucial for diagnosis. The preferred treatment method is wide surgical excision. Prognosis primarily depends on malignancy, especially at the local level, with a high risk of recurrence. It's rare for a distinctly malignant sarcomatous transformation with metastasis to occur.

Asymptomatic CD34+ plaque on the scalp of a child.

Fibroblastic connective tissue nevus (FCTN) is a rare, benign dermal mesenchymal lesion of fibroblastic and myofibroblastic lineage. We report a case of a 2-year-old male who presented with an 18-month history of an erythematous, asymptomatic, unchanging dermal plaque on the right medial frontal scalp. A punch biopsy showed a disorderly, bland, dermal fibroblastic spindle cell proliferation extending to the superficial subcutis. It stained positive for CD34, and concern for dermatofibrosarcoma protuberans was raised. However, FISH was negative for PDGFB rearrangement, and the constellation of findings was most consistent with FCTN. This case underscores the importance of distinguishing CD34+ mesenchymal tumors for both dermatologists and dermatopathologists. As these represent a rather diverse group of lesions with different biological behaviors, a knowledge of the differential diagnosis of these entities is critical for proper patient management.

Cellular and molecular landscape of primary dermatofibrosarcoma protuberans: Insights from single-cell RNA sequencing analysis.

Dermatofibrosarcoma protuberans (DFSP) is a rare cutaneous sarcoma characterized by the COL1A1-PDGFB fusion gene. This study utilized single-cell RNA sequencing to dissect the cellular and molecular landscape of primary DFSP. Distinct DFSP cell clusters, exhibiting fibroblast-like traits, revealed variations in pathways associated with proliferation, inflammation and metabolism. Differential gene expression analysis during the differentiation from tumour stem cells to DFSP cells unveiled SMOC2, DCN and TGFBR3 as potential regulators of tumour invasion and immune infiltration through VEGF/TGF-ß signalling modulation. Cellular communication analysis highlighted interactions within DFSP cell clusters and with endothelial cells, implicating molecules such as NAMPT, ANGPT2 and PTN in pathogenesis and treatment resistance. These findings offer insights into DFSP intratumour heterogeneity, elucidate molecular mechanisms underlying tumour behaviour, and suggest potential therapeutic targets.

Dermatofibrosarcoma Protuberans MRI: A Preliminary Comparison of Different Sequences.

OBJECTIVE: The purpose of this study was to compare the image quality of different MRI sequences regarding the presentation of Dermatofibrosarcoma Protuberans (DFSP). MATERIALS AND METHODS: We retrospectively collected MRI images of 40 patients who had been pathologically diagnosed with DFSP, including 21 primary tumors and 19 recurrent tumors. The image quality of different MRI sequences was assessed subjectively by two radiologists, taking into account the display of the lesions, artifacts, and distortions, as well as the overall impact of the image quality. RESULTS: Among the 40 cases, 22 cases involved the trunk, 14 cases involved the shoulders and limbs, 2 cases involved the head and neck, 1 case involved the breast, and 1 case involved the groin. In terms of image quality, fat suppression T2-weighted images were superior to T1-weighted images and T2-weighted images (P<0.05). The difference between fat suppression T2-weighted images and contrast-enhanced images was not significant (P>0.05). As far as lesion contrast is concerned, diffusion-weighted images, fat suppression T2-weighted images, and contrast-enhanced images did not differ significantly (P>0.05). On the DWI images, there were severe magnetic artifacts and deformations. CONCLUSIONS: Fat suppression T2-weighted images and enhanced sequences produce the highest quality images, while diffusion-weighted images provide the best lesion contrast.

Retrospective Single-Center Case Study of Clinical Variables and the Degree of Actinic Elastosis Associated with Rare Skin Cancers.

(1) Background: Rare skin cancers include epithelial, neuroendocrine, and hematopoietic neoplasias as well as cutaneous sarcomas. Ultraviolet (UV) radiation and sunburns are important drivers for the incidence of certain cutaneous sarcomas; however, the pathogenetic role of UV light is less clear in rare skin cancers compared to keratinocyte cancer and melanoma. In this study, we compared the degree of actinic elastosis (AE) as a surrogate for lifetime UV exposure among selected rare skin cancers (atypical fibroxanthoma [AFX], pleomorphic dermal sarcoma [PDS], dermatofibrosarcoma protuberans [DFSP], Kaposi sarcoma [KS], Merkel cell carcinoma [MCC], and leiomyosarcoma [LMS]) while taking into account relevant clinical variables (age, sex, and body site). (2) Methods: We newly established a semi-quantitative score for the degree of AE ranging from 0 = none to 3 = total loss of elastic fibers (basophilic degeneration) and multiplied it by the perilesional vertical extent (depth), measured histometrically (tumor-associated elastosis grade (TEG)). We matched the TEG of n = 210 rare skin cancers from 210 patients with their clinical variables. (3) Results: TEG values were correlated with age and whether tumors arose on UV-exposed body sites. TEG values were significantly higher in AFX and PDS cases compared to all other analyzed rare skin cancer types. As expected, TEG values were low in DFSP and KS, while MCC cases exhibited intermediate TEG values. (4) Conclusions: High cumulative UV exposure is more strongly associated with AFX/PDS and MCC than with other rare skin cancers. These important results expand the available data associated with rare skin cancers while also offering insight into the value of differentiating among these tumor types based on their relationship with sun exposure, potentially informing preventative, diagnostic and/or therapeutic approaches.

Current patterns of care and outcomes for dermatofibrosarcoma protuberans: An international multi-institutional collaborative.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a cutaneous sarcoma with an infiltrative growth pattern that makes it challenging to clear margins. High quality data regarding DFSP natural history, management, and outcomes are limited. METHODS: Data were retrospectively collected for adult DFSP patients who underwent resection at 10 institutions in eight countries. Demographics, tumor characteristics, treatment strategies, and outcomes were analyzed. RESULTS: Analysis included 347 patients consisting of young (median, 42 years), White (76.2%), males (54.2%) with truncal lesions (57.3%). The majority (76.8%) were symptomatic at presentation. Preoperative imaging was used in 55.9% of cases. Diagnosis was established with excisional biopsy in 50.9% versus incisional biopsy in 25.0% of cases. Despite planned margins of >1.0 cm in 67.4% of cases, only 69.0% of patients achieved R0 resection. Twenty-two percent of patients underwent at least one re-excision. R0 resection was achieved at a second procedure in 80.2% and a third procedure in 86.2%. Ultimately, R0 resection was feasible in 89.5% of all patients. Fibrosarcomatous transformation (FST) was observed in 12.6%. In total, 6.6% (N = 23) recurred (17 local, six distant). Of the six distant recurrences, 50.0% had FST. With a median follow-up of 47.0 months, disease-specific survival rate was 98.8%. In multivariable analysis, R0 margins at index resection were associated with wider circumferential margins and non-FST histology. CONCLUSIONS: In this international, multicenter collaborative, DFSP practice patterns were heterogeneous but achieved favorable recurrence rates and survival. Multiple excisions to clear margins remain commonplace and can inform future efforts to optimize margin selection.

Molecular pathways and therapeutic strategies in dermatofibrosarcoma protuberans (DFSP): unravelling the tumor's genetic landscape.

Dermatofibrosarcoma Protuberans (DFSP) is a rare soft tissue sarcoma distinguished by its infiltrative growth pattern and recurrence potential. Understanding the molecular characteristics of DFSP is essential for enhancing its diagnosis, prognosis, and treatment strategies. The paper provides an overview of DFSP, highlighting the significance of its molecular understanding. The gene expression profiling has uncovered unique molecular signatures in DFSP, highlighting its heterogeneity and potential therapeutic targets. The Platelet-Derived Growth Factor Receptors (PDGFRs) and Fibroblast Growth Factor Receptors (FGFRs) signaling pathways play essential roles in the progression and development of DFSP. The abnormal activation of these pathways presents opportunities for therapeutic interventions. Several emerging therapies, i.e., immunotherapies, immunomodulatory strategies, and immune checkpoint inhibitors, offer promising alternatives to surgical resection. In DFSP management, combination strategies, including rational combination therapies, aim to exploit the synergistic effects and overcome resistance. The article consisting future perspectives and challenges includes the discovery of prognostic and predictive biomarkers to improve risk stratification and treatment selection. Preclinical models, such as Patient-derived xenografts (PDX) and genetically engineered mouse models, help study the biology of DFSP and evaluate therapeutic interventions. The manuscript also covers small-molecule inhibitors, clinical trials, immune checkpoint inhibitors for DFSP treatment, combination therapies, rational therapies, and resistance mechanisms, which are unique and not broadly covered in recent pieces of literature. See also the graphical abstract(Fig. 1).

The epidemiology of dermatofibrosarcoma protuberans incidence, metastasis, and death among various population groups: A Surveillance, Epidemiology, and End Results database analysis.

BACKGROUND: Limited information exists regarding the epidemiology, metastasis, and survival of dermatofibrosarcoma protuberans (DFSP). OBJECTIVE: To measure DFSP incidence and assess metastasis and survival outcomes. METHODS: Incidence rate, overall and DFSP-specific survival outcomes for primary DFSP tumors contained in the Surveillance, Epidemiology, and End Results (SEER) registry were analyzed via quasi-Poisson regression, Cox, and competing risk analyses. RESULTS: DFSP incidence rate was 6.25 (95% CI, 5.93-6.57) cases per million person-years with significantly higher incidence observed among Black individuals than White individuals (8.74 vs 4.53). DFSP with larger tumor size (≥3 cm, odds ratio [OR]: 2.24; 95% CI, 1.62-3.12; P < .001) and tumors located on the head and neck (OR: 4.88; 95% CI, 3.31-7.18; P < .001), and genitalia (OR: 3.16; 95% CI, 1.17-8.52; P = .023) were associated with significantly increased risk of metastasis whereas higher socioeconomic status was associated with significantly decreased risk of metastasis. Larger tumor size (≥3 cm), regardless of location, and age (≥60 years) were associated with significantly worse overall and cancer-specific survival. LIMITATIONS: Retrospective design of SEER. CONCLUSION: DFSP incidence is 2-fold higher among Black than White individuals. The risk of DFSP metastasis is significantly increased with tumor size ≥3 cm and tumors located on head and neck, and genitalia. Larger tumor size (≥ 3 cm), regardless of location, and age (≥60 years) are the most important prognostic indicators of survival.

A challenging diagnosis of dermatofibrosarcoma protuberans of the middle finger in an infant: A case report.

INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is a rare sarcoma, accounting for less than 0.1 % of tumors. While it predominantly occurs in adults, pediatric cases are unusual. This case report aims to highlight the diagnostic and therapeutic challenges posed by DFSP in infants due to its rarity and slow-growing nature, emphasizing the importance of early diagnosis and prompt intervention. CASE PRESENTATION: We report the case of an 8-month-old infant presenting with a progressive finger mass, initially mistakenly diagnosed as a dermatofibroma. Local excision was done, but the tumor recurred after one year. Subsequent re-excision and skin grafting were performed, and histopathology confirmed DFSP. Despite middle finger amputation three weeks later, a new mass emerged on the adjacent ring finger after one year. This tested negative for DFSP. The fibrous mass has persisted for five years without significant changes. CLINICAL DISCUSSION: DFSP is a rare sarcoma with a higher prevalence in adults. It typically presents as a painless, slow-growing mass and is usually diagnosed by biopsy and immunohistochemistry. Surgical excision with negative margins is the preferred treatment. The rarity and slow-growing nature of DFSP pose challenges in diagnosis and treatment. CONCLUSION: Early diagnosis and prompt surgical intervention are crucial in managing DFSP, especially given its high recurrence potential. Maintaining a high index of suspicion is essential even in very young children. Aggressive resection with negative margins and diligent post-operative surveillance are key strategies to mitigate metastasis risk and improve prognosis in such challenging cases.

Darier-Ferrand dermatofibrosarcoma protuberans of the face: Case report and literature review.

INTRODUCTION: Darier Ferrand Dermatofibrosarcoma (DFSP) is a rare skin tumor, characterized by its local aggressivity and high potential of recurrence. It affects mainly young and middle-aged adults. Its location in the head and neck region represents nearly 12.5 % of all DFSP. CASE DESCRIPTION: We report a rare case of a 68-year-old patient who was treated for a DFSP of the cheek's lower part with reconstruction using a pectoralis major musculocutaneous flap. The postoperative course was uneventful and the aesthetic result was good. DISCUSSION: DFSP is a tumor of intermediate malignancy. Its optimal management is based on complete surgical excision requiring various reconstruction procedures for large defects. The treatment of unresectable lesions remains difficult despite the targeted therapies proposed and the improvement of radiotherapy techniques. CONCLUSION: The ideal management of a DFSP is based on surgical excision passing largely in healthy tissues. This situation requires early diagnosis and is the guarantee of disease-free survival without major sequelae in head and neck locations.