Objective: To investigate the clinicopathological and cytogenetic features of cryptic COL1A1-PDGFB fusion dermatofibrosarcoma protuberans (CC-DFSP). Methods: Three cases of CC-DFSP diagnosed in West China Hospital, Sichuan University, Chengdu, China from January 2021 to September 2021 were studied. Immunohistochemistry for CD34 and other markers, fluorescence in situ hybridization (FISH) for PDGFB, COL1A1-PDGFB and COL1A1, next-generation sequencing (NGS), reverse-transcriptase polymerase chain reaction (RT-PCR) and Sanger sequencing were performed. Results: There were three cases of CC-DFSP, including two females and one male. The patients were 29, 44 and 32 years old, respectively. The sites were abdominal wall, caruncle and scapula. Microscopically, they were poorly circumscribed. The spindle cells of the tumors infiltrated into the whole dermis or subcutaneous tissues, typically arranging in a storiform pattern. Immunohistochemically, the neoplastic cells exhibited diffuse CD34 expression, but were negative for S-100, SMA, and Myogenin. Loss of H3K27me3 was not observed in the tumor cells. The Ki-67 index was 10%-15%. The 3 cases were all negative for PDGFB rearrangement and COL1A1-PDGFB fusion, whereas showing unbalanced rearrangement for COL1A1. Case 1 showed a COL1A1 (exon 31)-PDGFB (exon 2) fusion using NGS, which was further validated through RT-PCR and Sanger sequencing. All patients underwent extended surgical resection. Except for case 3 with recurrence 2 years after surgical resection, the other 2 cases showed no recurrence or metastasis during the follow-up. Conclusions: FISH has shown its validity for detecting PDGFB rearrangement and COL1A1-PDGFB fusion and widely applied in clinical detection. However, for cases with negative routine FISH screening that were highly suspicious for DFSPs, supplementary NGS or at least COL1A1 break-apart FISH screening could be helpful to identify cryptic COL1A1-PDGFB fusions or other variant fusions.
Female ; Humans ; Male ; Collagen Type I, alpha 1 Chain ; Dermatofibrosarcoma/pathology* ; In Situ Hybridization, Fluorescence ; Oncogene Proteins, Fusion/genetics* ; Proto-Oncogene Proteins c-sis/genetics* ; Skin Neoplasms/pathology* ; Adult

Humans ; Child ; Dermatofibrosarcoma/surgery* ; Skin Neoplasms/surgery* ; Oncogene Proteins, Fusion/genetics*

Dermatofibrosarcoma ; Fibroma ; Humans ; Skin Neoplasms

Dermatofibrosarcoma/surgery* ; Ear Auricle ; Ear, External ; Humans ; Skin Neoplasms/surgery*

PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. We report a germline mutation of the PTEN (c.723dupT, exon 7) identified in a young woman with a simultaneous occurrence of breast cancer, dermatofibrosarcoma protuberans, and follicular neoplasm. This case suggests that it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose them and provide preventive care.
Breast ; Breast Neoplasms ; Dermatofibrosarcoma ; Disease Management ; Exons ; Female ; Genes, Tumor Suppressor ; Germ-Line Mutation ; Hamartoma ; Hamartoma Syndrome, Multiple ; Humans ; Kidney Neoplasms ; Thyroid Gland

Hairless scalp areas can occur due to trauma, tumors, or congenital disease. This aesthetically unpleasing condition can lead to psychosocial distress, and thin skin flaps may be prone to scarring. Treating the hairless scalp by simple excision is challenging because of skin tension. Tissue expanders are a good option for hairless scalp resurfacing. However, a single expansion may be inadequate to cover the entire defect. This report describes good results obtained using a serial resurfacing method involving re-expansion of the flap with a tissue expander to treat two patients with large lesions: one due to aplasia cutis congenital and another who underwent dermatofibrosarcoma protuberance resection. The results suggest that scalp resurfacing by serial tissue expansion using a tissue expander can be used for extensive lesions.
Alopecia ; Cicatrix ; Dermatofibrosarcoma ; Humans ; Methods ; Scalp ; Skin ; Tissue Expansion ; Tissue Expansion Devices

BACKGROUND: The occurrence of cutaneous malignant tumors has been increasing worldwide due to changes in various environmental factors. OBJECTIVE: Our study aimed to analyze the overall tendency of clinical characteristics in single-center patients with cutaneous malignant tumors according to sex, age, duration, size, anatomic site, treatment, and concomitant diseases. METHODS: We retrospectively reviewed the medical records and clinical photographs of 319 patients diagnosed with cutaneous malignant tumors (basal cell carcinoma, squamous cell carcinoma, melanoma, lymphoma, Paget's disease, metastatic skin cancer, mycosis fungoides, angiosarcoma, dermatofibrosarcoma protuberans, Kaposi sarcoma, malignant fibrous histiocytoma, Merkel cell carcinoma) and 109 patients diagnosed with premalignant tumors (Bowen's disease) between January 2007 and January 2017. RESULTS: The average annual incidence of malignant cutaneous tumors was 2.4%. In total, 158 males (36.9%) and 270 females (63.1%) were included with a mean age of onset of 66 years. Among the malignant tumors, basal cell carcinoma (30.8%) was the most common, while the incidences of squamous cell carcinoma (18.9%), melanoma (6.3%), and lymphoma (4.4%) were also high. The predominantly involved anatomic sites were the face (67.3%), trunk (11.5%), and legs (10.9%). Most cases involved solitarily existing tumors (77.3%), and pruritus (21.7%) was the most common accompanying symptom. Among the 69.6% of patients who received treatment for their tumors, the most common method was surgical removal. No significant increase in concomitant diseases or environmental factors was detected. CONCLUSION: Our study is meaningful as an overall and recent review of various types of cutaneous malignancies that provides preliminary data for further large-scale nationwide studies.
Age of Onset ; Carcinoma, Basal Cell ; Carcinoma, Squamous Cell ; Chungcheongnam-do ; Dermatofibrosarcoma ; Female ; Hemangiosarcoma ; Histiocytoma, Malignant Fibrous ; Humans ; Incidence ; Leg ; Lymphoma ; Male ; Medical Records ; Melanoma ; Methods ; Mycosis Fungoides ; Pruritus ; Retrospective Studies ; Sarcoma, Kaposi ; Skin Neoplasms ; Statistics as Topic

BACKGROUND: The slide-swing skin flap is a combination of transposition and adjacent skin sliding and can be used to close large, round defects with a flap that is smaller than the primary defect to produce aesthetically good results. OBJECTIVE: To evaluate the efficacy and safety of the slide-swing skin flap for various surgical defects caused by skin tumor excisions. METHODS: This retrospective case series, which includes 33 Asian patients between the ages of 25 and 86 years, describes the slide-swing skin flap after primary excision for malignant or premalignant skin conditions. The outcomes were assessed 12 weeks after surgery using the patient and observer scar assessment scale (POSAS). RESULTS: Patients were 25 male and 8 female, and the causes of surgery were various malignant skin tumors including malignant melanoma, dermatofibrosarcoma protuberans, and malignant nodular hidradenoma. Tumors were on the lower limb in eleven patients, back in nine patients, chest in five patients, face in three patients, buttock in three patients and two patients had tumors in other locations. The mean defect size was 3.5×3.1±1.9×2.2 cm (range, 1.4×0.9~9.0×12.0 cm). The mean patient POSAS total score was 9.7±3.0 and mean patient overall opinion score was 1.8±0.7. The mean observer POSAS total score was 11.0±2.7 and mean observer overall opinion score was 1.9±0.5. All flaps survived and postoperative recoveries were uneventful. CONCLUSION: The slide-swing skin flap is highly versatile and can be used to cover various surgical defects, irrespective of size and location, with excellent functional and cosmetic results.
Acrospiroma ; Asian Continental Ancestry Group ; Buttocks ; Cicatrix ; Dermatofibrosarcoma ; Female ; Humans ; Lower Extremity ; Male ; Melanoma ; Retrospective Studies ; Skin Neoplasms ; Skin ; Surgical Flaps ; Thorax

PURPOSE: Distribution and survival of sarcoma in Korea are not well described, after the changing of sarcoma classification on 2013. The researchers investigated the distribution and survival in single center 2017 cases of sarcoma.METHODS: Patients with primary sarcoma, who underwent surgery, were investigated. All cases were collected during a 20 year period (1995–2015) from Samsung Medical Center in Korea. Histopathologic types were classified by World Health Organization (WHO) classification (2013). And overall survival rates were analyzed.RESULTS: Between 1995 and 2015, 2017 patients were collected. The most frequent type of sarcoma was gastrointestinal tumor (15%), followed by liposarcoma (12%), leiomyosarcoma (9%), dermatofibrosarcoma (6%), giant cell sarcoma (6%). The most common primary site of sarcoma was the intra-abdominal area (45%, including visceral area). Extremities accounted for 26% of all cases. Sixteen percent of sarcoma were located in retroperitoneal area. The overall survival rate was 70.4% (median follow-up time, 36.8 months; range, 0.1–261.3 months). The best prognosis was dermatofibrosarcoma (100%, 5-year survival rate). The worst prognosis was angiosarcoma (39.3%). Survival analysis by the primary site demonstrated favor prognosis in extremities than head & neck, chest lesion.CONCLUSION: The researchers reported Korean sarcoma characteristics with using the new WHO classification.
Classification ; Dermatofibrosarcoma ; Epidemiology ; Extremities ; Follow-Up Studies ; Giant Cells ; Head ; Hemangiosarcoma ; Humans ; Korea ; Leiomyosarcoma ; Liposarcoma ; Neck ; Prognosis ; Sarcoma ; Survival Rate ; Thorax ; World Health Organization

Dermatofibrosarcoma protuberans (DFSP) is a slow growing low-grade cutaneous sarcoma. Local recurrence after excision is common due to the poorly defined periphery that renders histological control of surgical margin difficult, Mohs micrographic surgery is the optimal method for treatment. A 41 years old male patient, who had a previous history of DFSP, came to our dermatology clinic for evaluation of an asymptomatic firm flesh-colored nodule on the forehead. Total excision biopsy was done and the mass was histologically proved as DFSP. Wide excision with reconstruction was performed and showed no sign of recurrence till 18-month follow up. Local recurrence is known to be common for DFSP but a new visible lesion distant from the initial site may be confused as a de novo lesion or a benign neoplasm especially in scalp area, and thus interrupt early detection of DFSP. Herein, we report a case of recurrent DFSP of scalp which recurred distant from the original lesion.
Biopsy ; Dermatofibrosarcoma* ; Dermatology ; Follow-Up Studies ; Forehead ; Humans ; Male ; Methods ; Mohs Surgery ; Recurrence ; Sarcoma ; Scalp*