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.

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.

A 73-Year-Old Female Diagnosed With Dermatofibrosarcoma Protuberans in the Primary Care Setting: A Case Report and Literature Review of Misdiagnosed Cases.

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing, malignant tumor in the dermis and subcutaneous fat diagnosed by pathological and immunohistochemical examinations. This case report provides the dermatological findings of a 73-year-old woman with DFSP who presented to a primary care clinic with a longstanding nodular lesion on her left upper thigh. Dermatological examination showed a solitary, skin-colored violaceous/hyperpigmented nodule on the superior anteromedial portion of the left thigh. A punch biopsy revealed spindle cell proliferation, and diffuse CD34 positivity, confirming the diagnosis of DFSP. A dermatology referral was placed for further management and complete surgical excision. Patient underwent wide local excision (WLE) and has no recurrence to date. Unfortunately, DFSP is commonly misdiagnosed before skin biopsy which delays treatment. This case is significant because DFSP is not often diagnosed accurately outside the dermatology specialty and serves as a reminder to practitioners to use biopsies during the diagnostic process of skin findings to prevent the delay in management.

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).

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.

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.

An unusual presentation of dermatofibrosarcoma protuberans: A case of fibrosarcomatous dermatofibrosarcoma protuberans with pleomorphic angiectatic tumor-like changes.

Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive superficial mesenchymal neoplasm characterized by monomorphic spindle-cell proliferation with a storiform pattern. It can demonstrate pigmentation, myxoid changes, myoid differentiation, plaque-like growth, and fibrosarcomatous features; its varied presentation often complicates diagnosis. We report an extremely rare case of fibrosarcomatous DFSP with features reminiscent of a pleomorphic hyalinizing angiectatic tumor (PHAT) in a 73-year-old male. The diagnosis was confirmed using a reverse transcription polymerase chain reaction. To the best of our knowledge, PHAT-like changes in DFPS have not been described so far. Therefore, this report provides a novel variant of DFSP and expands the differential diagnosis of DFSP and PHAT.

In vitro modeling of recurrent Dermatofibrosarcoma Protuberans: Assessment of 5-aminolevulinic acid photodynamic therapy efficacy.

BACKGROUND: Dermatofibrosarcoma Protuberans (DFSP) is a rare, low-grade malignant tumor of the dermis with a high recurrence rate post-surgery. Current treatments, including surgery, radiotherapy, and targeted therapy, have limitations. Photodynamic therapy (PDT) with 5-aminolevulinic acid (5-ALA) is a promising non-invasive approach, but its efficacy in DFSP treatment remains underexplored. METHODS: This study aimed to evaluate the anti-tumor efficacy of 5-ALA PDT using an in vitro model derived from a recurrent DFSP patient. The cells were treated with varying concentrations of 5-ALA and exposed to red light, followed by assessments of cell viability, proliferation, apoptosis, migration, invasion, angiogenesis, and expression of DFSP-related genes and proteins. RESULTS: 5-ALA PDT significantly reduced DFSP cell viability in a dose-dependent manner and induced apoptosis. It also effectively inhibited cell proliferation, migration, and invasion, as well as suppressed angiogenic activity in conditioned media. Furthermore, 5-ALA PDT downregulated the expression of COL1A1 and PDGFRB, key genes in DFSP pathogenesis. CONCLUSIONS: The findings provide the first evidence of 5-ALA PDT's in vitro anti-tumor efficacy against DFSP, suggesting its potential as a novel therapeutic approach for DFSP. Further studies are warranted to explore the clinical utility of 5-ALA PDT in preventing DFSP recurrence.

The Role of Postoperative Radiotherapy in the Management of Dermatofibrosarcoma Protuberans: A Multidisciplinary Systematic Review.

Background: Dermatofibrosarcoma protuberans (DFSP) is a superficial soft tissue sarcoma, and surgical excision is the first-line treatment. The aim of this systematic review is to provide an update about the current indications and clinical results regarding the use of postoperative radiotherapy in DSFP, considering both adjuvant and salvage setting. Methods: We conducted a systematic literature review using the main scientific database, including Cochrane library, Scopus, and PubMed, for any relevant article about the topic, and we considered all available papers without any time restriction. Results: Twenty-two papers, published between 1989 and 2023, were retrieved and considered eligible for inclusion in this review. Regarding the fractionation schedules, most authors reported using standard fractionation (2 Gy/die) with a wide total dose ranging from 50 to 70 Gy. The local control after postoperative radiotherapy was excellent (75-100%), with a median follow-up time of 69 months. Conclusions: After the primary surgical management of DFSP, postoperative radiotherapy may either be considered as adjuvant treatment (presence of risk factors, i.e., close margins, recurrent tumours, aggressive histological subtypes) or as salvage treatment (positive margins) and should be assessed within the frame of multidisciplinary evaluation.

Dermatofibrosarcoma protuberans of the breast in pregnancy.

Dermatofibrosarcoma Protuberans (DFSP) is a rare, locally aggressive fibroblastic mesenchymal neoplasm, typically derived from the dermis, with the intramammary subtype being seen infrequently. We present a case of a 40-year-old woman whom was diagnosed with an intramammary DFSP during pregnancy, whom underwent successful surgical management during her second trimester. Our case demonstrates the importance of increased clinical awareness in the diagnosis and treatment of breast DFSP with careful multidisciplinary consideration.

Survival outcomes of rare cutaneous malignancies within an insured cohort of patients, 1988-2018.

BACKGROUND: There are limited survival data on cutaneous angiosarcoma (CAS), dermatofibrosarcoma protuberans (DFSP), Merkel cell carcinoma (MCC), and sebaceous carcinoma (SC). OBJECTIVE: To analyze survival trends in CAS, DFSP, MCC, and SC among a racially diverse, insured cohort of patients. METHODS: Using data from the Kaiser Permanente Southern California Cancer Registry, we identified adults diagnosed with CAS, DFSP, MCC, or SC between January 1, 1988 and December 31 2018, followed through December 31, 2021. RESULTS: Our cohort consisted of 83 diagnoses of CAS, 490 diagnoses of DFSP, 411 diagnoses of MCC, and 249 diagnoses of SC. Our analysis revealed no significant differences in overall or disease-specific 1000 person-years mortality rates among our populations of non-Hispanic Whites, Hispanics, African American/Blacks, and Asian American/Pacific Islanders diagnosed with CAS, DFSP, MCC, or SC. On multivariate analysis, controlling for patient and tumor characteristics, there was similarly no increased risk of overall mortality for minorities diagnosed with CAS, DFSP, MCC, or SC. LIMITATIONS: Retrospective nature of the analysis and small sample size. CONCLUSION: Contrary to existing literature, our results show a notable lack of racially driven survival disparities among insured individuals with CAS, DFSP, MCC, and SC, emphasizing the importance of health care coverage.

Dermatofibrosarcoma protuberans in a pre-adolescent child.

INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is a rare skin sarcoma with a slow growth rate and less chance of metastasizing but it is associated with higher morbidity due to its aggressive nature of local infiltration and its recurrence nature. IMPORTANCE: When dealing with DFSP in children we could achieve low morbidity with appropriate surgical planning and approach even though aggressive wide local excision was performed. CASE REPORT: 12-year boy presented with a lump in his left arm which was initially clinically and ultrasonically diagnosed as lipoma. However, histological examination, coupled with CD34 immunohistochemistry, confirmed the diagnosis as DFSP. CLINICAL DISCUSSION: Modern microsurgical methods, such as Mohs micrographic surgery, are advocated as effective treatment options, their availability and feasibility may be limited in certain settings. Therefore, the classic approach of wide local excision remains the treatment of choice in the majority of cases, with radiotherapy recommended for recurrent disease. Proper patient education and regular surveillance will help identify recurrence in time which aids us to provide timely intervention and optimize outcomes for patients with dermatofibrosarcoma protuberans. CONCLUSION: Accurate diagnosis using histology coupled with immunohistochemistry, proper surgical technique and regular follow up are the three pillars of managing DFSP.

A retrospective review of Mohs micrographic surgery trends over more than 10 years in Saudi Arabia.

OBJECTIVES: To review Mohs micrographic surgery (MMS) trends in Saudi Arabia.Mohs micrographic surgery is a precise surgical technique that has been proven to have the highest cure rate with maximum normal tissue preservation. It is the treatment of choice for non-melanoma skin cancer (NMSC), especially the aggressive histopathological forms, and tumors located in high-risk regions or where tissue preservation is a mandate. METHODS: A multicentric retrospective study was performed on patients who underwent MMS between January 2010 and September 2022. The information was extracted from the database of King Saud University Medical City and Prince Sultan Military Medical City in Saudi Arabia. RESULTS: A total of 70 participants were enrolled in this study. Two-thirds (67%) of the tumors that were treated using MMS were basal-cell carcinomas (BCC), 18.6% were squamous cell carcinomas (SCC), 5.7% were sebaceous carcinoma, 4.3% were dermatofibrosarcoma protuberans (DFSP), and 1.4% were rare tumors such as primary mucinous carcinoma. The most common type of reconstruction used to repair post-MMS defect was primary closure in more than half of the patients followed by secondary intention healing (20%). There were no side effects apart from a hematoma in one patient and wound infection in two patients. CONCLUSION: Although MMS is still generally underutilized in Saudi Arabia, its use has increased in the last decade.

Gene fusions in superficial mesenchymal neoplasms: Emerging entities and useful diagnostic adjuncts.

Cutaneous mesenchymal neoplasms are diagnostically challenging because of their overlapping morphology, and, often, the limited tissue in skin biopsy specimens. Molecular and cytogenetic techniques have identified characteristic gene fusions in many of these tumor types, findings that have expanded our understanding of disease pathogenesis and motivated development of useful ancillary diagnostic tools. Here, we provide an update of new findings in tumor types that can occur in the skin and superficial subcutis, including dermatofibrosarcoma protuberans, benign fibrous histiocytoma, epithelioid fibrous histiocytoma, angiomatoid fibrous histiocytoma, glomus tumor, myopericytoma/myofibroma, non-neural granular cell tumor, CIC-rearranged sarcoma, hybrid schwannoma/perineurioma, and clear cell sarcoma. We also discuss recently described and emerging tumor types that can occur in superficial locations and that harbor gene fusions, including nested glomoid neoplasm with GLI1 alterations, clear cell tumor with melanocytic differentiation and ACTIN::MITF translocation, melanocytic tumor with CRTC1::TRIM11 fusion, EWSR1::SMAD3-rearranged fibroblastic tumor, PLAG1-rearranged fibroblastic tumor, and superficial ALK-rearranged myxoid spindle cell neoplasm. When possible, we discuss how fusion events mediate the pathogenesis of these tumor types, and we also discuss the related diagnostic and therapeutic implications of these events.

Case Report: A case of COL1A1-PDGFB fusion uterine sarcoma at cervix and insights into the clinical management of rare uterine sarcoma.

COL1A1-PDGFB gene fusion uterine sarcoma is an especially rare malignant mesenchymal tumor that was previously classified as an undifferentiated uterine sarcoma due to the lack of specific features of differentiation. Till now, only five cases have been reported, and here we presented another case recently diagnosed in a Chinese woman who had vaginal bleeding. She presented with a cervical mass at the anterior lip of the cervix invading the vagina and was treated with laparoscopic total hysterectomy plus bilateral salpingo-oophorectomy (TH+BSO) and partial vaginal wall resection with the final pathology of COL1A1-PDGFB fusion uterine sarcoma. Our aim is to emphasize the importance of differential diagnosis of this rare tumor, as early precise diagnosis may allow patients to benefit from the targeted therapy imatinib. This article also serves as further clinical evidence of this disease, serving to increase clinical awareness of this rare sarcoma to avoid misdiagnosis.

Rare Variants of Dermatofibrosarcoma Protuberans: Clinical, Histologic, and Molecular Features and Diagnostic Pitfalls.

Dermatofibrosarcoma protuberans (DFSP) is a dermal malignant mesenchymal tumor. Most variants are associated with a high risk of local recurrence and a low risk of metastasis. The classic histomorphology of this tumor is made up of uniform, spindle-shaped cells, arranged in a storiform pattern. Tumor cells characteristically infiltrate the underlying subcutis in a honeycomb pattern. Less common variants of DFSP have been identified: myxoid, pigmented, myoid, granular cell, sclerosing, atrophic, and fibrosarcomatous. Only the fibrosarcomatous variant has been shown to differ significantly from classic DFSP in terms of clinical outcome; fibrosarcomatous DFSP has been shown to be associated with a greater risk of local recurrence and metastatic potential than classic DFSP. However, the other variants may pose diagnostic difficulty as they resemble other types of spindle cell neoplasms, especially in small biopsy specimens. This article reviews the clinical, histologic, and molecular features of DFSP variants, as well as possible pitfalls in their diagnosis and how to resolve them.

Dermatofibrosarcoma protuberans challenges: a case series and review of the literature.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a rare variant of skin sarcoma which is characterized by proliferation of spindle cells in a storiform pattern. Although it is mostly benign in its primary stages, it can cause a high burden of morbidity unless it is thoroughly excised. CASE PRESENTATION: Here, we review six cases of DFSP which were characterized by skin lesions in various parts of the body. Patients were from 26 to 51 years old; four were Asian men and two were Asian women. Wide surgical excision was performed for all these patients and no extra treatment was considered. Samples were studied by hematoxylin and eosin (H&E) staining and immunohistochemical (IHC) tests. Only one of our patients experienced recurrence after the initial surgery. CONCLUSION: Determining the best surgical method is still a dilemma in the treatment of DFSP lesions. There are numerous studies to prove the efficacy of various surgical interventions. Although DFSP is not commonly known as a malignant skin lesion, delay in treatment will have a catastrophic impact on patients' lives. Thus, applying an in-time surgical method (wide local excision in our cases) in treating DFSP is crucial in preventing recurrence as well as decreasing the morbidity burden of DFSP.