Dermatofibrosarcoma Protuberans of the Breast: A Rare Localization

The dermatofibrosarcoma protuberans (DFP) is a rare skin tumor. It represents 0.1% of the malignant skin tumor. Surgery is its only treatment. The breast involvement is exceptional. We report our cases, 13 years old patient we have dermatofibrosarcoma protuberans in her breast.

Darier Ferrand Mammary Dermatofibrosarcoma Simulating a Breast-Type Myofibroblastoma: A Case Report

Myofibroblastoma and Darier Ferrand’s dermatofibrosarcoma are rare entities that are similar both in terms of clinical morphological characteristics and histological characteristics. We report the case of a 49-year-old non-menopausal woman with a history of right breast lumpectomy. Supported by the Chompret criteria, an oncogenetic consultation was performed. Clinical examination revealed a firm 25 mm mass on the medial part of the left breast with skin involvement. A biopsy was performed and analysis result came back in favor of a cellular type myofibroblastoma showing a fibrous component consisting of spindle cells with a herringbone arrangement. Anatomopathological results concluded to a dermatofibrosarcoma of Darier Ferrand while immunohistochemistry stated a tumor population strongly positive for CD34 expression. The search for a rearrangement of the collagen type I alpha 1 gene (COL1A1) by fluorescence in situ hybridization (FISH) was positive. The diagnosis of Dermatofibrosarcoma of Darier Ferrand can be suspected on imaging and confirmed by histology. Surgical treatment of Darier Ferrand dermatofibrosarcoma consists of wide excision of the lesions with margins greater than 2 cm, on which the prognosis mainly depends. Micrographic surgery and oncoplastic breast surgery are of major interest in this location.

Dermatofibrosarcoma Protuberans—An Atypical Breast Tumor

A 49-year-old woman was referred to the Department of Plastic and Breast Surgery under suspicion of breast cancer after a mammogram revealed a self-discovered tumor in the lower part of her left breast. Clinical examination, mammography, and histopathological examination revealed that the original tumor in the left breast was benign, and an incidental malignant tumor, a dermatofibrosarcoma protuberans (DFSP), was found in the contralateral breast. DFSP is a rare and highly malignant entity that is often silent and difficult to diagnose, making a biopsy essential. Surgical treatment must be aggressive due to the high risk of recurrence, which constitutes a technical challenge. The patient underwent surgery using an oncoplastic approach with a volume-reducing technique to achieve the best possible therapeutic and aesthetic results. Therapeutic breast reduction was performed on the right breast and the tumor was removed within the resected tissue. A contralateral symmetrizing mammoplasty was also performed simultaneously. The patient was discharged without major complications, and no recurrence of the tumor was seen during the 30-month follow-up period. The surgical approach included alternative solutions in addition to conventional lumpectomy or mastectomy. A multidisciplinary, open-minded, and creative approach resulted in a satisfying outcome for this patient.

Risk factors related to postoperative recurrence of dermatofibrosarcoma protuberans: A retrospective study and literature review

BACKGROUND Dermatofibrosarcoma protuberans(DFSP)is a rare low-grade malignant soft tissue tumor characterized by rosette-like infiltrative growth.Postoperative recurrence of this tumor is very common.AIM To evaluate the risk factors related to recurrence after wide local excision(WLE)of DFSP and to guide clinical diagnosis and treatment.METHODS The medical records of 44 DFSP patients confirmed by pathology at our hospital from 2012 to 2019 were retrospectively reviewed.The relationship between clinical features,tumor characteristics,treatment,and recurrence risk were analyzed,and the possible risk factors for postoperative tumor recurrence were evaluated.RESULTS There were 44 patients in total,including 21 males and 23 females.The median progression free survival was 36 mo(range,1-240 mo).Twenty patients were treated for the first time,while 24 had previous treatment experience.Forty-two cases were followed for 25.76±22.0 mo,among whom four(9.52%)experienced recurrence after WLE(rate was 9.52%).The recurrence rate in the recurrent group was higher than that in the patients with primary tumor(19.05%vs 0%,P=0.028).Eighteen cases had a history of misdiagnosis(rate was 40.91%).The recurrence rate among patients with previous experience of misdiagnosis was significantly higher than in patients without(68%vs 36.84%,P=0.04).The tumor diameter in patients with a history of treatment was larger than in patients treated for the first time(4.75±0.70 cm vs 2.25±0.36 cm,P=0.004).CONCLUSION To sum up,the clinical manifestations of DFSP are not specific and are easily misdiagnosed,thus commonly causing the recurrence of DFSP.After incomplete resection,the tumor may rapidly grow.Previous recurrence history may be a risk factor for postoperative recurrence,and tumor location may have an indirect effect on postoperative recurrence;however,we found no significant correlation between sex,age,course of the disease,or tumor size and postoperative recurrence.

Recurrent Dermatofibrosarcoma Protuberant of the Hand: A Case Report

Dermatofibrosarcoma is a rare, slow growing tumor with a tendency to local recurrence. The treatment is mainly surgical. In Madagascar there is no specialized center for the management of soft tissue sarcomas. It is in this context that we report a case of a 45-year-old man, driver, presenting with recurrent dermatofibrosarcoma of the left hand. The diagnosis was confirmed by the positivity of the CD34 marker. Extensive local excision surgery was performed with the patient’s consent. After free years of treatment, there is no tumor recurrence.

Dermatofibrosarcoma Protuberans of the Neck: A Case Report

Background: Dermatofibrosarcoma protuberans (DFSP) is rare soft tissue sarcoma but has a locally aggressive nature. Although most cases are of low grade and have a rare metastasis rate, all DFSP variants have a tendency to show local recurrence. Wide excision with negative margins is the treatment of choice. Aim: To report a case of DFSP who presented with an asymptomatic slow growing tumor similar to etiologies such as hypertrophic scars or other benign soft tissue tumors. Case Presentation: A 68-year-old male presented with a large soft tumor located at the left posterior neck. Local excision was done under the preoperative impression of a benign tumor such as lipoma or sebaceous cyst. However the diagnosis of DFSP was made upon histological examination and the patient underwent another surgery to achieve free resection margins under general anesthesia as well as adjuvant radiotherapy. Conclusion: DFSP is a malignant tumor that is diagnosed histopathologically. Due to the low incidence rate, slow-growing nature, and non-alarming initial presentation features, diagnostic delay or even misdiagnosis is not uncommon.

Dermatofibrosarcoma protuberans: from translocation to targeted therapy

Dermatofibrosarcoma protuberans(DFSP), the most common dermal sarcoma, is a low-grade, slow growing fibroblastic malignant neoplasm that most frequently affects middle aged adults and is characterized by a high local recurrence rate and a low propensity for metastasis. Wide surgical resection or Mohs micrographic surgery(MMS) are the preferred approaches for localized disease, while radiation therapy is warranted for inoperable disease or for cases with positive margins where re-excision is not possible. DFSP is generally regarded as refractory to conventional chemotherapy. Treatment options for systemic disease were limited until the discovery of a unique translocation, t(17;22)(q22;q13)(COL1A1;PDGFB) found in a majority of cases. In recent years, imatinib, a PDGFβR, ABL and KIT inhibitor, has revolutionized systemic therapy in DFSP. In this review, we summarize the epidemiological, clinical, histological and genetic characteristics of DFSP and update the readers on its current management.

The role of radiotherapy in 74 patients with dermatofibrosarcoma protuberans

Objective:To study treatment and prognostic factor in 74 patients with dermatofibrosarcoma protuberans.Meth-ods:From August 1990 to November 1999,74 patients with dermatofibrosarcoma protuberans(DFSP)confirmed by pathology were treated in Cancer Hospital of Sun Yat-sen University.72 cases were given wide excision and 2 cases were given local exci-sion.All of 74 cases,52 cases had surgical resection alone,and 22 cases had surgical resection combined with radiotherapy.Total dose of radiotherapy was 50-70 Gy.Results:The rate of recurrence was 36.1% for all patients.The 5-year recurrence-free survival(RFS)rate was 66%.The 5-year recurrence-free survival rates for resection alone and combined with radiotherapy were 58% and 90%,respectively(P=0.0187).The 5-year recurrence-free survival rates for positive microscopic margins and negative microscopic margins were 57% and 75%,respectively(P=0.0468).Conclusion:Post-operation radiotherapy is an effective treatment to decrease the recurrence rate for the patients with positive microscope,or the patients without suitable surgical treatment.

隆突性皮肤纤维肉瘤的分子生物学进展

隆突性皮肤纤维肉瘤(Dermatofibrosarcoma protuberans,DFSP)是最常见的皮肤肉瘤之一,缺乏特异性临床和影像学表现,组织病理学复杂,以缓慢不规则浸润周围组织为生长特点,治疗以手术切除为主。目前,DFSP在临床上存在易误诊、漏诊率高和复发率高的难点,亟待开发出特异性的诊断标志物和有效的治疗靶点。本文将对DFSP的最新分子生物学进展进行综述,以期为该肿瘤的诊断和治疗提供新的思路。

隆突性皮肤纤维肉瘤的影像表现及临床病理特征

目的:探讨隆突性皮肤纤维肉瘤(DFSP)的影像表现及临床病理特征,提高该病的诊断及鉴别水平。方法:回顾性分析经病理证实的35例DFSP患者的临床及影像资料。结果:35例患者中单发31例,多发4例,共40个病灶;34例位于皮肤或皮下脂肪层,1例位于浅筋膜下层;发生于躯干21例,四肢10例,头面部4例。病灶多呈不规则形或梭形,其中14个病灶伴有“子结节外突征”,23个病灶伴有“多结节征”,5个病灶伴有“悬吊征”。病灶最大径1.3~18.6 cm,平均5.1 cm。病变CT平扫呈等或稍低密度,增强扫描多呈轻中度不均匀强化。T1WI多呈等、稍低信号,T2WI-FS多呈均匀或混杂高信号,部分病灶内可见“双低信号征”,DWI呈高信号,增强扫描呈均匀或不均匀明显强化。病灶多合并周围侵袭征象,26例见“皮肤尾征”,32例见“脂肪尾征”,16例见“筋膜尾征”。病理表现为真皮及皮下组织的梭形肿瘤细胞围绕血管呈“车辐状”排列。免疫组化CD34、Vimentin多呈阳性,CK、S-100蛋白多呈阴性。结论:DFSP的发病部位、CT及MRI表现具有一定特征性,术前检查有助于其准确定性及临床手术方案制定。

隆突性皮肤纤维肉瘤一例

隆突性皮肤纤维肉瘤是一种少见的浸润性皮肤软组织肿瘤,具有惰性生长的特点,手术切除后易复发。本文报道隆突性皮肤纤维肉瘤一例,患者,女,47岁,上腹部红色结节1年余,经组织病理和免疫组化确诊,给予手术扩大切除,术后1个月放疗,随访2年余未复发。

Dermatofibrosarcoma protuberans of the chest wall： three-dimensional wide excision and reconstruction

Dermatofibrosarcoma protuberans （DFSP） is a poorly differentiated interstitial tumor that originates from the dermis. It occurs predominantly in the 20-50-year- old males. DFSP generally presents as local pink plaques or nodules and subsequently develops into nodular masses accompanied by infiltrative growth to the surrounding tissue, including muscle and bone.

Reverse bilateral latissimus dorsi flap reconstruction after extensive mid back dermatofibrosarcoma protuberans excision:a case report

Surgical resection of soft tissue sarcoma of the trunk can result in large defects requiring complex reconstruction for coverage of vital neurovascular structures and tissue defect. Large defects of the back could be reconstructed with multiple random pattern or local pedicled flaps. We present the case of a 48-year-old patient with a locally advanced dermatofibrosarcoma protuberans of the back. Wide local excision of the lesion was performed. The soft tissue defect measured 22 cm × 20 cm × 4 cm and was reconstructed with bilateral reverse latissimus dorsi myocutaneous (RLDM) flap. Each RLDM flap measured 24 cm × 10 cm. The donor site on the back was closed directly on both sides. The patient recovered well and the two flaps healed uneventfully. Twelve months after surgery the patient is disease-free. The use of a RLDM flap in mid-back reconstructions provided wide well-vascularized soft tissue, minimized risk of infection, and maximized back coverage. This flap is an excellent choice for reconstruction of large defects of the mid-back.

乳腺隆突性皮肤纤维肉瘤21例临床病理及分子学特征

目的探讨乳腺隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans of the breast,DFSP-B)的临床病理学及分子学特征。方法回顾性分析21例DFSP-B的临床病理学、免疫表型及分子学特征,行HE、免疫组化及分子检测,并复习相关文献。结果21例DFSP-B患者男性6例,女性15例,年龄22~75岁(平均39.76岁,中位年龄36岁)。肿瘤最大径1~15 cm(平均4.7 cm,中位3 cm)。镜下瘤细胞呈席纹状、漩涡状及束状排列,核分裂象2~15个/10 HPF,侵犯脂肪及乳腺组织,符合DFSP-B;其中经典型DFSP-B 15例,经典型伴巨细胞纤维母细胞瘤(giant cell fibroblastoma,GCF)1例,黏液型2例,纤维肉瘤型隆突性皮肤纤维肉瘤(fibrosarcomatous-dermatofibrosarcoma protuberans,FS-DFSP)2例,FS-DFSP伴黏液型1例。免疫表型:CD34(21/21)、H3K27Me3(21/21)、β-catenin(21/21,胞膜)和WT-1(4/8,胞质)均阳性,Ki-67增殖指数为5%~50%。FISH检测DFSP-B中PDGFB基因分离阳性(7/8);3例FS-DFSP中PDGFB基因分离阳性(1/1),COL1A1-PDGFB融合阳性(1/1)。2例行NGS检测,其中1例FS-DFSP检测到CDKN2A基因(p.L16fs)突变及MSH6基因(p.F1088fs)突变;1例经典型伴GCF型检测到MLH1基因(p.R487)突变及TP53基因p.R273H体系突变。结论DFSP-B诊断需结合临床病理、免疫表型及PDGFB基因检测,治疗以手术切除为主,必要时可行放疗及靶向治疗,预后较好。

隆突性皮肤纤维肉瘤36例临床分析

目的:总结隆突性皮肤纤维肉瘤(DFSP)的临床表现、影像学表现及组织病理特点。方法:回顾性分析1988年9月-2020年12月就诊于苏州大学附属第一医院的36例DFSP患者的临床及组织病理资料。结果:36例DFSP患者中,男女比例1.6:1;平均发病年龄(36.8±11.4)岁。皮损以躯干最为多见[25例(69.4%)],其次为四肢[7例(19.4%)]。超声检查示肿瘤位于真皮及皮下层,呈不均匀低回声,边界清楚,肿瘤内具有较丰富的血流信号。磁共振成像(MRI)平扫示T1WI呈等或低信号,T2WI呈高信号,增强后可见明显均匀强化。36例患者组织病理分型均为经典型,临床诊断与病理诊断符合率为16.7%,免疫组化示CD34和vimentin表达阳性,S-100蛋白和CD68表达阴性。该组患者术后复发率为27.6%。结论:DFSP多见于中年男性,病程缓慢,临床误诊率高。超声及MRI等影像学检查可为疾病的诊断、手术方式及范围提供参考。该病复发率高,手术应局部扩大切除,尤其需注意切除的范围和深度,加强长期临床随访。

Darier-Ferrand Dermofibrosarcoma: A Case Report of a Cervical Localization

Darier-Ferrand dermatofibrosarcoma (DFS) is a cutaneous mesenchymal tumor of intermediate malignancy. It is a rare but not exceptional tumor, accounting for 0.1% of malignant skin tumors. Histological examination is essential for diagnosis. Wide surgical excision is the standard treatment. DFS is a tumor whose prognosis and evolutionary risk are mainly linked to the delay in diagnosis and the quality of the first excision. Late diagnosis makes excision and reconstruction surgery difficult. The chances of recovery in the case of well-performed primary surgery are significantly greater than in the case of salvage surgery. To improve prognosis, early, codified, multidisciplinary management is essential. In our African context, and especially in the case of patients living in rural areas, errant diagnoses are often found hence the importance of raising awareness and providing information to healthcare personnel. We report a case of an enlarged left supraclavicular Darier-Ferrand dermatofibrosarcoma. The patient had come for a late consultation at a stage when the tumour was large. The CT scan was a great help in the pre-operative phase. The patient underwent complete surgical excision, the postoperative course was straightforward and the histology of the surgical specimen confirmed the diagnosis. The resection margins were healthy. The patient is alive at one year with no recurrence or metastasis.

影像学术前评估联合改良慢Mohs显微描记手术治疗隆突性皮肤纤维肉瘤一例

患者,男,33岁。右侧前胸壁浸润性斑块10年,增生1年。组织病理诊断隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)。术前予以行强化MRI判断肿瘤侵袭深度,高频超声辅助判断肿瘤边缘,两种影像学检查联合完成术前评估。排除手术禁忌后予以行改良慢Mohs显微描记手术(slow modified Mohs micrographic surgery,smMMS)切除肿瘤,中厚皮植皮修复创面,术后恢复可,无术后并发症。

转移性隆突性皮肤纤维肉瘤的临床病理及分子特征

目的:探讨转移性隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)的临床病理学特征及分子改变并结合文献进行复习。方法:筛查2010至2022年福建省肿瘤医院病理科诊断的DFSP,共计174例,其中5例为转移性DFSP。收集患者资料,行苏木精-伊红(hematoxylin-eosin,HE)染色、免疫组织化学染色及荧光原位杂交(fluorescence in situ hybridization,FISH)检测,对原发灶与转移灶进行观察比较。结果:5例转移性DFSP,其中2例肺转移,3例腹腔转移;4例男性,1例女性;年龄39~66岁。除1例外,其余均有复发病史,初诊至转移间隔2~13年。形态上,均为纤维肉瘤型DFSP。对比原发灶,转移灶可出现CD34免疫组织化学染色强度减弱。FISH检测示4例有PDGFB基因易位伴拷贝数增加,腹部转移患者拷贝数多于肺转移。对比非转移性DFSP患者,转移性DFSP患者PDGFB分离阳性伴拷贝数扩增率高(80.0%vs 29.4%)。治疗上,3例转移灶行手术切除;2例无法手术或术后复发的病例接受伊马替尼药物治疗,均有疗效。结论:DFSP罕见发生远处转移,病理类型多为纤维肉瘤型,对多次复发且具有PDGFB基因易位伴拷贝数增加的DFSP术后患者应加强随访,警惕转移风险,对于无法手术的转移性DFSP,推荐伊马替尼靶向治疗。

先天性黏液型隆突性皮肤纤维肉瘤一例并文献复习

先天性DFSP临床罕见,其临床表现可类似血管性病变。黏液型先天性隆突性皮肤纤维肉瘤(congenital dermatofibrosarcoma protuberans,DFSP)是DFSP独特而罕见的亚型,具有其特征性病理组织学改变,生物学行为属交界恶性/潜在低度恶性。先天性黏液型DFSP更为罕见,国外仅有2例散发病例报道。本文报道一例并回顾相关文献。患儿,女,1岁9个月。出生后即有背部肿物,曾于外院误诊为血管瘤,予盐酸噻吗诺尔眼药水外敷治疗1年余,效果不佳。肿物不断增大,就诊我科后,予手术切除肿物并行病理组织学及免疫组织化学检查,诊断为先天性黏液型隆突性皮肤纤维肉瘤。考虑病理回报底切缘最近距离仅0.25 mm,根据指南行肿瘤边缘1 cm扩大切除治疗,随访2年未发现复发及转移。

额部纤维肉瘤型隆突性皮肤纤维肉瘤1例

目的探讨纤维肉瘤型隆突性皮肤纤维肉瘤(fibrosarcomatous dermatofibrosarcoma protuberans,FS-DFSP)临床特点,以期提高对该病的认识,减少临床误诊。方法回顾性分析2020年7月兰州大学第二医院收治的1例FS-DFSP病人临床资料。结果病人因“额部肿块切除术后10年,再发1年”入院。皮损组织病理:短梭形细胞呈席纹状排列,部分区域呈束状、鱼骨样排列。免疫组化:CD34(+)、波形蛋白(Vimentin)(+)、Ki-67增生活跃区60%(+)。诊断为FS-DFSP,予以扩大范围皮肤病损根治性切除术,术后随访至今未见复发。结论FS-DFSP发病率低,易误诊,提高对该病的认识及警惕性有助于确诊及降低临床误诊率。