Dermatofibrosarcoma Protuberans Mimicking Primary Breast Neoplasm: A case report and literature review.

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing mesenchymal neoplasm of the dermis and subcutaneous tissues that has a low-to intermediate-grade malignancy. DFSP commonly involves the trunk and extremities, and very rarely the breast skin, mimicking a primary breast neoplasm with few reported cases in the literature. We report a 35-year old female patient who was referred to the Royal Hospital, Muscat, Oman in 2017, with a two-year history of a slow growing left breast lump. Assessment of the breasts with mammography revealed a lobulated lesion in the left-upper-inner quadrant with neither microcalcification nor architectural distortion, mimicking a benign lesion. However, on ultrasound, the lesion had suspicious features with increased vascularity and hence, it was categorised as breast imaging reporting and data system (BIRAD) IV. The patient underwent left breast wide local excision and the histopathological diagnosis was dermatofibrosarcoma protuberans.

Review of the pathophysiology, diagnosis, and therapy of vulvar leiomyoma, a rare gynecological tumor.

The objective of this article is to discuss the pathophysiology, diagnosis, differential diagnosis, and therapy of vulvar leiomyoma. We performed a review of all English-language reports of vulvar leiomyoma published in PubMed from 1978 to 2015 using the following search terms: "vulval leiomyoma," "vulvar leiomyoma," "vulval smooth muscle tumor," and "external genitalia smooth muscle tumor." Vulvar leiomyomas, which are rare benign monoclonal tumors, most commonly occur in the fourth and fifth decades of life. The genetics of vulvar leiomyoma remain undefined. Three principal histological patterns have been identified: spindled, epithelioid, and myxoid. Imaging tests such as ultrasound, endoscopic ultrasound, and magnetic resonance imaging are used in diagnosis. Surgical excision is the only curative treatment for vulvar leiomyomas. Establishment of a full differential diagnosis list and correct final diagnosis before surgery are essential for optimal clinical management. Although recurrence of vulvar leiomyoma is extremely rare, long-term follow-up of all cases is advisable.

Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12-year-old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma -a rare tumor of childhood- in a patient with Kabuki syndrome.

Activation of the Akt/mammalian target of rapamycin pathway in myxofibrosarcomas.

The Akt/mammalian target of rapamycin (mTOR) pathway plays important roles in modulating cellular function in response to extracellular signals such as growth factors and cytokines. The Akt/mTOR signaling pathway is activated in certain kinds of sarcomas. Myxofibrosarcoma is a soft tissue sarcoma, characterized by abundant myxoid stroma and frequent local recurrence. Here, we conducted a large-scale examination of the clinicopathological and activation statuses of the Akt/mTOR pathways in myxofibrosarcoma. The phosphorylation status of Akt, mTOR, S6 ribosomal protein, and the eukaryotic translation initiation factor 4E-binding protein, and mitogen-activated protein kinase were assessed by immunohistochemistry in 101 formalin-fixed, paraffin-embedded samples, including 68 primary tumors in myxofibrosarcoma. Immunohistochemical expressions were confirmed by Western blotting with 20 frozen samples, which were paired with normal tissue samples. PIK3CA and AKT1 gene mutations were also analyzed using 12 primary tumor frozen samples. Immunohistochemically, phosphorylations of Akt, mTOR, S6 ribosomal protein, 4E-binding protein, and mitogen-activated protein kinase 1/2 were observed in 64.7%, 45.6%, 42.6%, 63.2%, and 64.7% of samples. Phosphorylated Akt/mTOR pathway proteins were correlated with one another and were also correlated with the phosphorylation of these proteins in the concordant recurrent tumors. Immunoblotting showed a high degree of phosphorylation in tumor samples, compared with that in normal tissue samples. Activation of the Akt/mTOR pathway was correlated with histologic grade and tumor progression. Mutational analysis failed to reveal any PIK3CA or AKT1 mutations around the hot spots. Activation of the Akt/mTOR pathway was associated with histologic malignancy and tumor progression in primary and recurrent myxofibrosarcoma.

Dermatofibrosarcoma protuberans / Dermatofibrosarcoma Protuberans

El dermatofibrosarcoma protuberans es el sarcoma de piel más frecuente aunque su incidencia es muy baja comparada con otros tumores cutáneos. Se presenta clínicamente en forma de placa indurada de crecimiento lento sobre la que aparecen nódulos a medida que el tumor progresa. Se localiza inicialmente en la dermis desde donde infiltra el tejido celular subcutáneo, la fascia, el músculo e incluso el hueso. La translocación COL1A1-PDGFB es específica del dermatofibrosarcoma protuberans y sirve de ayuda en el diagnóstico de determinados casos. Según la revisión de las series publicadas en la literatura, el porcentaje de recidivas con cirugía micrográfica de Mohs es mucho menor que el encontrado cuando se emplea cirugía convencional con márgenes amplios. Para casos metastásicos o en aquellos donde la cirugía pueda ser mutilante se dispone recientemente del imatinib, fármaco de la familia de los inhibitores de la tirosina quinasa (AU)

Dermatofibrosarcoma protuberans is the most common skin sarcoma, although its incidence is very low compared with other skin tumors. It presents as a slow-growing indurated plaque on which nodules develop over time. The lesion arises in the dermis but can invade subcutaneous tissue, fascia, muscle and even bone. COL1A1-PDGFB translocation is specific to dermatofibrosarcoma protuberans, and the presence of this fusion contributes to diagnosis in certain cases. A review of the literature provides evidence that recurrence is much lower after Mohs micorgraphic surgery than after conventional wide local excision. In the case of metastatic disease or when surgery would be mutilating, another recently approved treatment is the tyrosine kinase inhibitor imatinib (AU)

Imatinib as effective therapy for dermatofibrosarcoma protuberans: proof of concept of the autocrine hypothesis for cancer.

Cancer literature has consistently described autocrine loops involving growth factors to be important mechanisms for cellular transformation and proliferation in preclinical cancer models. Finally, convincing clinical data exist to implicate autocrine loops as central to the pathogenesis of a malignant condition, largely as a result of the recent development of inhibitors of protein tyrosine kinases important in cell signaling and growth. Although a rare condition, the study of patients with dermatofibrosarcoma protuberans (DFSP) is enriched by data demonstrating strong scientific rationale for its pathogenesis and susceptibility to molecular-based therapies. DFSP is a low-grade sarcoma that responds to treatment with imatinib, an inhibitor of the PDGF receptor tyrosine kinase. This treatment response illustrates the importance of autocrine/paracrine loops involving PDGF and its receptor as the key molecular target in DFSP. New insight into this fundamental biological mechanism sets the scene for the further development of molecular-targeted therapeutic options for cancer.

Dermatofibrosarcoma protuberans congénito: descripción de un caso / Congenital dermatofibrosarcoma protuberans: a case report

El dermatofibrosarcoma protuberans es un tumor fibrohistiocitario de bajo grado poco común y que suele aparecer en adultos entre los 20 y 50 años de edad. Inicialmente se presenta como una mácula o placa violácea de aspecto vascular sobre la que aparecen posteriormente lesiones nodulares en la superficie. El diagnóstico es histológico y se trata de un tumor de células fusiformes que se disponen en fascículos cortos adoptando un patrón arremolinado característico. Es un tumor con una elevada tasa de recurrencias locales, aunque son raras las metástasis. El tratamiento es quirúrgico con amplios márgenes. Este tumor excepcionalmente afecta a niños menores de 16 años y todavía más raros son los casos congénitos, con sólo 27 casos descritos en la literatura. Se describe el caso de un niño de 10 años de edad con un dermatofibrosarcoma protuberans presente desde el nacimiento y sin signos de recurrencia en la actualidad

Dermatofibrosarcoma protuberans is a rare low-grade fibrohistiocytic tumor with onset normally at ages between 20 and 50 years. It presents as a violaceous plaque or macule with an appearance suggestive of vascular lesion, on which nodular lesions appear later. Histological diagnosis is based on the presence of a spindle-cell tumor arranged in small bundles in a characteristic cartwheel pattern. The local recurrence rate is high but metastases are rare. The treatment is surgical resection with wide margins. The tumor rarely affects children under 16 years of age and it is even less common at birth--only 27 congenital cases have been described in the literature. We describe the case of a 10-year-old boy with dermatofibrosarcoma protuberans present since birth and currently without signs of recurrence

Dermatofibrosarcoma protuberance: case reports.

BACKGROUND: Dermatofibrosarcoma protuberance (DFSP) is a relatively uncommon soft tissue neoplasm with intermediate to low grade malignancy, rarely metastasizing to regional lymph node or distant site but with proclivity for local recurrence due to inadequate resection. METHODS: We evaluated the clinical histories and treatment outcomes of five consecutive patients who had histologic diagnosis of DFSP in the University of Calabar Teaching Hospital between 2000 and 2004. RESULTS: The five cases reported had histologic diagnosis, sought for after excision. The male:female ratio was 2:3 with an age range of 17-35 years (mean, 26.6 years). Two of the lesions involved the neck and the other three sites involved were the anterior chest wall, groin and proximal thigh. Three of the lesions were recurrent. CONCLUSION: DFSP is an uncommon tumour, painless, cutaneous and multilobulated lesions should arouse the suspicion of this tumour. Early presentation, pre-operative histologic diagnosis and postoperative evaluation of resection margins would enhance the goal of ensuring adequate excision for improved outcome.

Dermatofibrossarcoma protuberans: relato de sete casos / Dermatofibrossarcoma protuberans: a report of seven cases

O dermatofibrossarcoma protuberans (DFSP) compreende 1 porcento de todas as neoplasias malignas. Apresenta maior incidência entre a segunda e quinta décadas de vida e maior distribuiçäo no sexo masculino. As lesöes surgem inicialmente como nódulo cutâneo indolor, podendo haver, em alguns casos (12 a 17 porcento), história de trauma pregresso. Geralmente tem curso benigno, mas, após repetidas recidivas, pode disseminar para órgaös a distância. Foram estudados sete casos de DFSP em dois serviços. Observou-se maior incidência em couro cabeludo (42,8 porcento). Todos os pacientes foram submetidos à ressecçäo cirúrgica da lesäo com margens adequadas; a literatura preconiza margem de 3cm de pele normal. A dissecçäo linfonodal só está indicada quando houver metástases linfáticas locorregionais, evento infreqüente no curso natural do DFSP. O mesmo pode ser dito em relaçäo às metástases à distância. Na casuística dos autores näo foram encontrados pacientes com doença avançada. Apenas dois pacientes (28,6 porcento) foram operados para ressecçäo de recidiva local do tumor. A radioterapia tem sido utilizada nos casos de doença irressecável ou quando näo há condiçöes de ressecçäo com margens adequadas por implicar perda funcional ou cosmética extensa. A quimioterapia tem demonstrado efetividade contra doença metastática

Dermatofibrosarcoma protuberans of the sole.

A 42-year-old Chinese man presented with a dome-shaped, red, tender, bony-hard tumor on his right sole. Histological examination revealed tumor nests which consisted mainly of fibroblast-like cells with large, spindle-shaped nuclei and histiocyte-like cells extending from the upper dermis to the subcutaneous tissue. The tumor cells showed both a storiform and a cartwheel pattern. The location of a dermatofibrosarcoma protuberans on the plantar aspect of the foot is exceptional.