ABSTRACT
Dermatofibrosarcoma protuberans (DFSP) is a rare and low-grade sarcoma of fibroblast origin with a tendency to invade and recur locally. The most common sites of origin of DFSP are the head, neck, and extremities. However, DFSP breast has also been reported. It infiltrates surrounding subcutaneous tissue and fascia, with an incidence of <2% for lung metastases. Surgery being the main modality of the treatment, literature has shown that radiation therapy also plays an important role to improve local control in case of recurrent tumors. In this article, we will be discussing one such rare case of DFSP in a recurrent setting and the role of radiation therapy.
ABSTRACT
Dermatofibrosarcoma protuberans is a rare soft tissue sarcoma of low to intermediate malignant potential. Incidence is estimated to be 0.8 to 4.5 cases per million persons per year. The tumor is highly aggressive locally and is known to recur. Punch biopsy or excisional biopsy (in case of small tumors) are diagnostic. Computer tomography (CT) and magnetic resonance imaging (MRI) are useful in determining the size and extent of the tumor’s treatment is primarily surgical, with a wide local excision with at 2 cm margin. However, local recurrence after apparently adequate surgical excision is common. Mohs micrographic surgery has been recommended as it enables maximum preservation of tissue. When surgery is insufficient, imatinib mesylate is shown as a safe and effective treatment in dermatofibrosarcoma protuberans (DFSP), especially in cases of locally advanced or metastatic disease. Here, we report a case of a giant fibrosarcoma on the anterior abdominal wall, measuring 27×18×9 cm, which occurred in a recurrent dermatofibrosarcoma protuberans. Diagnosis was done by histopathological examination (HPE) of the previously excised tumor and CT was done. The tumor was excised with a 3 cm margin and extensive reconstruction of the anterior abdominal wall defect was done using synthetic mesh, myocutaneous flaps and split skin grafting. Keeping in view the recurrent nature of our case, large tumor size, DFSP-fibrosarcomatous (FS) transformation and close negative margins in the HPE of the postoperative specimen, the patient was planned for adjuvant radiotherapy.
ABSTRACT
Dermatofibrosarcoma protuberans (DFSP) is a rare, locally invasive soft tissue sarcoma. The local recurrence rate is high, in some studies upwards of 60%, likely reflecting a failure to remove occult extensions of tumor. Surgical excision has been the treatment of choice for the resection of DFSP. Any pitfall on management therapy of DFSP not only increase the recurrence rate but also add new problems to patients with DFSP. 58-year-old male patient, came with a local recurrent of DFSP on his right leg. Then performed excision with margin one centimetre, and closing defect using pedicle sural flap, durante surgery turned pedicle on the flap is too short and because of poor soft tissue handling pedicle was injured. It consulted into the vascular division for evaluated and treatment pedicle. Postoperative evaluation, the flap experiences bluish due to vascularization compromised. It was decided to expose the flap and the defect was covered with skin graft. 2 months postoperative evaluation found local recurrent on skin graft area. Excision margins between 2 to 5 cm can reduce the recurrence rate. Proper planning in designing flaps to cover defects and the ability of good soft tissue handling is required to avoid new problems on management DFSP.
ABSTRACT
RESUMEN El dermatofibrosarcoma protuberante es un raro tumor fibrohistiocitario de la piel y grado intermedio de malignidad. Localmente tiene un comportamiento agresivo, se extiende al tejido celular subcutáneo y músculo subyacente. Su crecimiento es lento e indoloro con una alta frecuencia de recurrencia posterior a la intervención quirúrgica. Se presentó una paciente operada en el Servicio de Cirugía General del "Hospital Universitario Dr. Mario Muñoz Monroy" de Colón, Matanzas. Diagnosticada con dermatofibrosarcoma protuberans se presentó con un tumor de partes blandas, localizado en parrilla costal izquierdo, recidivante sobre una lesión resecada anteriormente hacia 8 meses. El tumor de superficie multinodular e irregular, de aproximadamente 3 a 4 cm de diámetro, presentaba zonas de color azuladas y otras más oscuras con un área enrojecida circundante, consistencia dura, y no adherida a planos profundos. Con el resultado anatomopatológico se ratificó el diagnóstico. Nuevamente se aplicó tratamiento quirúrgico con amplios márgenes libres de tumor. Las metástasis son raras y pocos frecuentes, pero localmente pueden infiltrar, grasa, fascia, músculos y hasta estructuras óseas. Cuando se presentan ocurren generalmente en pulmón y ganglios linfáticos regionales, en estos casos la supervivencia es muy poca.
ABSTRACT Dermatofibrosarcoma protuberant (DFSP) is a rare fibrohistiocytic skin tumor of intermediate level of malignance. Locally it has an aggressive behavior extending to the subcutaneous cellular tissue and underlying muscle. Its grow is slow and painless with a high recurrence frequency after surgery. The authors present the case of a female patient operated in the Service of General Surgery of the University Hospital ¨Dr. Mario Muñoz Monroy¨ of Colon, Matanzas. Diagnosed with dermatofibrosarcoma protuberant, she arrived to the consultation with a tumor of soft tissues located in left rib cage, recidivist on a lesion resected 8 months before. It had a multinodular and irregular surface, of around 3-4 cm diameter, with bluish and dark blue areas and a reddened surrounding area of hard consistence, not adhered to deep planes. The diagnosis was ratified by the neuropathologic result. The surgical treatment was applied again with wide free-tumors margins. Metastases are rare and few frequent, but locally they can infiltrate fat, fascia, muscles and even bone structures. When they present they occur mainly in lung and regional lymphatic ganglia; in these cases survival is scarce.
Subject(s)
Humans , Female , Adult , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/pathology , Dermatofibrosarcoma/diagnostic imaging , Skin Neoplasms/diagnosis , Soft Tissue Neoplasms/diagnosis , Neoplasm Recurrence, LocalABSTRACT
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.
Subject(s)
Female , Humans , Breast , Breast Neoplasms , Dermatofibrosarcoma , Disease Management , Exons , Genes, Tumor Suppressor , Germ-Line Mutation , Hamartoma , Hamartoma Syndrome, Multiple , Kidney Neoplasms , Thyroid GlandABSTRACT
RESUMEN El dermatofibrosarcoma protuberans (DFSP) es un sarcoma fusocelular de grado intermedio de malignidad con máxima incidencia en adultos entre 20 y 40 años y de localización habitualmente troncular (cabeza, cuello extremidades superiores). Se presentan tres casos de DFSP de localización excepcional a nivel vulvar. Las pacientes fueron tratadas con vulvectomía respetando márgenes de seguridad pero, debido a la idiosincrasia del tumor, presentaron recidivas locales que precisaron de una nueva cirugía. En su posterior seguimiento no presentaron recaídas y se encuentran libres de enfermedad.
ABSTRACT Dermatofibrosarcoma protuberans (DFSP) is an intermediate grade spindle-cell sarcoma with a highest incidence in adults between 20 and 40 years old and a trunk location (head, neck and arms). We introduce three case reports of vulvar DFSP considered unusual because of their location. The patients were conducted a free-margin vulvectomy but, due to the nature of the tumor, local reappearances required a second surgery. In the subsequent follow-up they did not suffer from any tumor relapse and they are currently disease-free.
Subject(s)
Humans , Female , Adult , Middle Aged , Skin Neoplasms/surgery , Skin Neoplasms/diagnosis , Vulvar Neoplasms/surgery , Vulvar Neoplasms/diagnosis , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/diagnosis , Skin Neoplasms/pathology , Vulvar Neoplasms/pathology , Mohs Surgery , Dermatofibrosarcoma/pathology , Diagnosis, Differential , VulvectomyABSTRACT
Introdução: O dermatofibrossarcoma protuberante (DFSP) é um tumor fibrohistiocítico de origem dérmica raro, que acomete a pele, representando 1% dos sarcomas de partes moles e menos de 0,1% de todas malignidades. A principal característica deste tipo de tumor é a sua elevada taxa de recidiva local após excisão cirúrgica. Decidir a margem cirúrgica adequada para a ressecção completa é um desafio. Relato de caso: 24 anos, apresenta lesão tumoral vegetante avermelhada no ombro esquerdo, assintomática. Possui história familiar positiva de DFSP em membro inferior. O laudo histopatológico definitivo confirmou Dermatofibrossarcoma protuberans. Discussão: A característica histológica do tumor é a presença de projeções tipo tentáculos de células neoplásicas na periferia que se estendem através do tecido subcutâneo até a fáscia muscular. Certamente, o fator de maior importância para o controle local é a obtenção de margens cirúrgicas livres. A excisão através da cirurgia micrográfica de Mohs é uma ótima opção em regiões onde a excisão ampla não é desejável, como na face. A margem padrão estabelicida em grande parte da literatura é de 3 cm com ressecção até a fáscia muscular, podendo ser diminuida para 2 cm em locais em que a excisão ampla prejudique a conformação do local, como na face. (AU)
Dermatofibrosarcoma protuberans (DFSP) is a rare dermal fibrohistiocytic tumor that affects the skin, accounting for 1% of soft tissue sarcomas and representing less than0.1% of all malignancies. The main characteristic of this type of tumor is a high rate of local recurrence after surgical excision. Deciding the proper surgical margin for complete resection is a challenge. Case report: 24 year-old, shows a reddish vegetative asymptomatic tumor on the left shoulder. She has a positive family history of DFSP in the lower limb. The definitive histopathological report confirmed Dermatofibrossarcoma protuberans. Discussion: The histological feature of the tumor is the presence of tentacle type projections of neoplastic cells in the periphery extending through the subcutaneous tissue to the muscular fascia. Of course, the most important factor for local control is the achievement of free surgical margins. Excision through Mohs micrographic surgery is a great option in regions where wide excision is not desirable, as in the face. The standard margin in most pf the literature is 3 cm resected to the muscular fascia, and it can be reduced to 2 cm in places where the extensive excision impairs the conformation of the site, as in the face. (AU)
Subject(s)
Humans , Female , Adult , Skin Neoplasms , Dermatofibrosarcoma , Myocutaneous Flap , Margins of ExcisionABSTRACT
Dermatofibrosarcoma protuberans is a rare type of cancer, a soft tissue sarcoma that develops in the deep layers of skin. It is a locally aggressive tumor with a high recurrence rate but the metastasis rarely occurs. The first sign of dermatofibrosarcoma protuberans is often a small bump on the skin. It may resemble a deep-seated pimple of rough patch of skin. The tumor typically grows slowly and can become a raised nodule. Therefore, it is likely to be misdiagnosed as keloid, basal cell carcinoma and scleroderma. We recently experienced a case of dermatofibrosarcoma protuberans in a 63-year-old man, who presented with anterior lower neck mass. We present this case with a review of the literature.
Subject(s)
Humans , Middle Aged , Carcinoma, Basal Cell , Dermatofibrosarcoma , Keloid , Neck , Neoplasm Metastasis , Recurrence , Sarcoma , SkinABSTRACT
Objective To investigate CT and MRI features of dermatofibrosarcoma protuberans (DFSP).Methods Totally 16 patients with DFSP confirmed by pathology were enrolled.Tumor morphology,CT and MRI imaging appearance (11 cases underwent plain and enhanced CT,5 cases underwent plain and enhanced MRI) were analyzed retrospectively.Results DFSP usually occurred in the skin of truck,head and neck,protruding from the skin surface in different extent.Some lesions even suspended out of the skin.The lesions were divided into nodular type (n=12) and diffuse type (n=4) according to their morphological appearance.The tumors usually demonstrated as iso-density or slightly low density solid mass compared to muscle on CT.On MRI,it usually demonstrated as low signal on T1WI and high signal on T2WI.Tumor blood supply was rich,and it usually showed progressively moderate to strong enhancement.The signs within DFSP include hanging sign (n=2),skin tail sign (n＝6),fascia tail sign (n=l),fat tail sign (n=4).Conclusion DFSP can be characterized by nodular or diffuse lesions,the manifestations of different form are slightly different,but still have a certain characteristic.
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No abstract available.
Subject(s)
Female , Humans , Dermatofibrosarcoma , Diagnosis, DifferentialABSTRACT
El dermatofibrosarcoma protuberans (DFSP) es un tumor cutáneo raro, localmente agresivo, con tendencia a la recurrencia local pero que rara vez metastatiza. Constituye el sarcoma de origen cutáneo más común. Representa un desafío diagnóstico y terapéutico para los dermatólogos, debido a la alta tasa de recurrencia local que posee. En el siguiente artículo, presentamos el caso de un paciente con este diagnóstico y su posterior manejo (AU)
Dermatofibrosarcoma protuberans (DFSP) is an unusual locally aggressive cutaneous tumor, with tendency to local recurrence but rarely to metastasis. It is the most common cutaneous sarcoma, presenting a diagnostic and therapeutic challenge for dermatologists, due to the high rate of local recurrence. A male patient diagnosed with DFSP and its subsequent management is reported (AU)
Subject(s)
Humans , Male , Adult , Dermatofibrosarcoma/surgery , Dermatofibrosarcoma/diagnosis , Dermatofibrosarcoma/pathology , Skin Neoplasms , Diagnosis, DifferentialABSTRACT
Introducción: El Dermatofibrosarcoma Protuberans (DFSP) es un sarcoma cutáneo infrecuente y poco descrito en la literatura regional. En este trabajo se describió y analizó las características clínicas e histopatológicas de los DFSP tratados en nuestro centro. Métodos: Estudio retrospectivo de todos los casos de DFSP primarios, confirmados con biopsia entre los años 2002 y 2016 en el Servicio de Anatomía Patológica del Hospital Clínico Universidad de Chile (HCUCh). Resultados: La muestra contó con 18 casos, 67% de sexo femenino, la edad promedio de diagnóstico fue 45,5 años. El 28% de los DFSP se localizaron en tronco, 22% extremidades inferiores, 22% extremidades superiores, 22% región inguinogenital y 6% cervical. Un 22% de las biopsias fueron enviadas con diagnóstico clínico presuntivo de DFSP. En la histopatología, todos los DFSP estaban compuestos por células fusiformes, distribuidas en patrón estoriforme que infiltraban hasta el tejido adiposo subcutáneo. La inmunohistoquímica se realizó en 7 casos, siendo positivo para CD34 en todas estas muestras y negativo para el factor XIIIa. En el 50% de los casos se observó compromiso de márgenes quirúrgicos. Conclusiones: Nuestros resultados fueron similares a publicaciones internacionales. Se observó mayor frecuencia en mujeres y diagnóstico clínico más tardío. Se constató un bajo índice de sospecha clínica de DFSP, confundiéndose con patologías benignas, lo que podría incidir en la frecuencia de márgenes positivos del estudio. Este trabajo constituye uno de los reportes de series de casos más extensos desarrollado a nivel nacional.
Background: Dermatofibrosarcoma protuberans (DFSP) is a rare skin sarcoma barely described in regional literature. This paper described and analyzed the clinical and histopathologic features of DFSP treated in our center. Methods: Retrospective study of all cases of primary DFSP, confirmed with biopsy between 2002 and 2016 in the Department of Pathology of the University of Chile Clinical Hospital (HCUCh). Results: The sample had 18 cases, 67% female, the average age of diagnosis was 45.5 years. The 28% of DFSP were located on the trunk, 22% lower limbs, 22% upper limbs, 22% inguino-genital region and 6% on the cervical region. A 22% of the biopsies were sent with presumptive clinical diagnosis of DFSP. On histopathology, all DFSP were composed of spindle- shaped cells distributed in storiform pattern, infiltrating to the subcutaneous adipose tissue. Immunohistochemistry was performed in 7 cases, being positive for CD34 in all of these samples and negative for factor XIIIa. In 50% of cases surgical margins were positive. Conclusions: Our results were similar to international publications. Higher frequency was observed in females and a delayed clinical diagnosis. There was a low index of clinical suspicion of DFSP, often confused with benign conditions, which could have influenced the high frequency of positive margins found in the study. This paper is one of the most extensive reports of case series developed nationwide.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Skin Neoplasms/diagnosis , Skin Neoplasms/pathology , Dermatofibrosarcoma/diagnosis , Dermatofibrosarcoma/pathology , Skin Neoplasms/epidemiology , Biopsy , Immunohistochemistry , Chile , Epidemiology, Descriptive , Retrospective Studies , Dermatofibrosarcoma/epidemiology , Age and Sex DistributionABSTRACT
Dermatofibrosarcoma protuberans is a fibrohistiocytic tumor with intermediate malignancy that usually appears in adults. The congenital type is very rare, and only three cases have been reported so far in the Korean literature. A 2-month-old girl presented with a firm reddish-gray nodule on the middle of her back that had been present since birth. Histopathologically, the lesion was composed of fascicles of densely packed uniform spindle cells arranged in a storiform (mat-like) pattern. The cells had hyperchromatic nuclei and rare mitotic figures. On immunohisto-chemistry, the tumor cells were positive for CD34. Based on these findings, we made the diagnosis of congenital dermatofibrosarcoma protuberans. She underwent wide excision, and there was no evidence of recurrence during 24 months of follow-up. Our report is of interest because of the rarity of congenital dermatofibrosarcoma protuberans and its earliest detection reported in Korea.
Subject(s)
Adult , Female , Humans , Infant , Dermatofibrosarcoma , Diagnosis , Follow-Up Studies , Korea , Parturition , RecurrenceABSTRACT
Dermatofibrosarcoma protuberans (DFSP) is a rare disease of dermal fibroblastic origin that accounts for less than 5% of all soft tissue sarcomas in adults. DFSP grows slowly and is an asymptomatic lesion at the initial diagnosis. Herein, we report a case of multiple pedunculated nodules as a variant of DFSP. A 47-year-old man presented with a 7-month history of multiple well-circumscribed, firm, pedunculated nodules on the inguinal area. Histopathologic examination results showed densely packed uniform spindle cells with a storiform and cartwheel pattern, and positivity for CD34. Wide excision and skin graft were performed and at the 6-month follow-up, there was no evidence of recurrence or metastasis.
Subject(s)
Adult , Humans , Middle Aged , Dermatofibrosarcoma , Diagnosis , Fibroblasts , Follow-Up Studies , Neoplasm Metastasis , Rare Diseases , Recurrence , Sarcoma , Skin , TransplantsABSTRACT
Dermatofibrosarcoma protuberans (DFSP) is a rare disease of dermal fibroblastic origin that accounts for less than 5% of all soft tissue sarcomas in adults. DFSP grows slowly and is an asymptomatic lesion at the initial diagnosis. Herein, we report a case of multiple pedunculated nodules as a variant of DFSP. A 47-year-old man presented with a 7-month history of multiple well-circumscribed, firm, pedunculated nodules on the inguinal area. Histopathologic examination results showed densely packed uniform spindle cells with a storiform and cartwheel pattern, and positivity for CD34. Wide excision and skin graft were performed and at the 6-month follow-up, there was no evidence of recurrence or metastasis.
Subject(s)
Adult , Humans , Middle Aged , Dermatofibrosarcoma , Diagnosis , Fibroblasts , Follow-Up Studies , Neoplasm Metastasis , Rare Diseases , Recurrence , Sarcoma , Skin , TransplantsABSTRACT
Objective:To investigate the values of immunophenotype and the Collagen type1 alpha1/Proto-oncogene Proteins c-sis (COL1A1/PDGFB) fusion gene in the diagnosis of dermatofibrosarcoma protuberans (DFSP). Methods:IHC markers and the COL1A1/PDGFB fusion gene were detected by IHC staining and interphase fluorescence in situ hybridization (FISH) in 73 cases previously diagnosed as DFSP. A total of 85 and 10 non-DFSP cases were also included as controls for IHC staining and FISH, respectively. Results:In the 73 DFSP cases, the positive detection rates for immunohistochemical marker vimentin, CD34, CD99, S100, desmin and SMA were 100%, 91.78%, 61.64%, 0, 0, and 6.85%, correspondingly. Protein expression levels in these cases varied from the control group, and CD34 ex-pression was significantly different among the differential diagnoses. The positive detection rate for the COL1A1/PDGFB fusion gene was 86.96%(60/69), whereas the gene expression in the control group was negative. Conclusion:The COL1A1/PDGFB fusion gene is a highly specific and sensitive marker in the diagnosis of DFSP. CD34 is a suitable marker for DFSP.
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Objective:To investigate the clinical features, therapeutic method, and prognostic factor of fibrosarcomatous dermato-fibrosarcoma protuberans (FS-DFSP). Methods: Data of 18 FS-DFSP cases treated in the Department of General Surgery, Tianjin Huanghe Hospital between June 2004 and June 2014 were retrospectively analyzed. Research indexes included age, sex, pathogenic site, number of previous unplanned surgeries, tumor size, depth, incisal margin of the last surgical procedure, chemotherapy, relapse and metastasis, and survival time. Univariate and multivariate analyses of the research indicators were conducted in these cases. Results:All 18 patients underwent surgery, and the incisal margins were R0 in 17 cases and R1 in 1 case, with local recurrence in 2 of the 18 cas-es. The patient with R1 incisal margin underwent postoperative radiotherapy. Among all the patients, 12 with tumor base depth and/or largest tumor diameter of>5 cm accepted the chemotherapy of mesna, adriamycin, ifosfamide, and dacarbazine, also known as MAID regimen, after surgery. No progression of disease occurred during chemotherapy. After chemotherapy, pulmonary metastasis occurred in 3 of the 12 cases, and pulmonary metastasis with local recurrence existed in 1 case. Two of the 3 patients with pulmonary metastasis were treated with imatinib mesylate, and the therapeutic effect stabilized the disease. Two-year survival rate was 93%, and 5-year sur-vival rate was 79%in total patients. The results of mono-factorial analysis indicated that clinical factors, such as age, sex, pathogenic site, tumor size, depth, recurrence, incisal margin of surgical operation, and chemotherapy, were unrelated to the overall survival (OS) time. The number of previous unplanned surgeries and metastasis are related to OS. The results of multiple factor analysis showed that none of the clinical factors were independent prognostic factors for OS. Conclusion:A thorough removal of tumor can reduce the recur-rence rate, which is the key point in FS-DFSP treatment. Recurrence and metastasis of tumor are significant factors affecting prognosis.