Cryptic COL1A1-PDGFB fusion in dermatofibrosarcoma protuberans: a clinicopathological and genetic analysis / 中华病理学杂志

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.

Dermatofibrosarcoma protuberans pigmentado: descripción de un caso pediátrico / Pigmented Dermatofibrosarcoma Protuberans: description of a pediatric case

Resumen: Introducción: El tumor de Bednar es un sarcoma de bajo grado, infrecuente, considerado como la variante pigmen tada del dermatofibrosarcoma protuberans (DFSP). Objetivo: describir las características clínicas, histopatológicas, el tratamiento y la evolución de un caso pediátrico de esta infrecuente neoplasia. Caso Clínico: escolar de 9 años que consultó por una pápula indurada asintomática, de dos años de evolución en el dorso del cuarto dedo del pie izquierdo. La biopsia incisional de la lesión fue com patibles con un DFSP pigmentado. El estudio inmunohistoquímico mostró positividad intensa para CD34 en toda la lesión, con factor XIIIa negativo. Se complementó el estudio de la pieza histológica con citogenética molecular FISH para el gen PDGFB (22q13.1) el cual reflejó un patrón anómalo en las células tumorales, no así en los melanocitos ni en la piel peritumoral. Se realizó cirugía micrográfica de Mohs diferida con cobertura mediante sustituto dérmico, sin recidiva ni recurrencia tumoral a los 5 años de seguimiento. Conclusiones: El DFSP pigmentado es un sarcoma de bajo grado, que muy infrecuentemente se presenta en pacientes pediátricos. Las variantes clásica y pigmentada deben ser sospechadas ante una lesión papulonodular única, de crecimiento lento y progresivo, con presencia de células fusiformes con patrón estoriforme en la biopsia y con estudio inmunohistoquímico positi vo para CD34. Es una entidad con buen pronóstico, con escaso riesgo de recurrencia y metástasis, si se logra la realización de una extirpación completa.

Abstract: Introduction: Bednar tumor is a rare low-grade sarcoma considered the pigmented variant of dermatofibrosarco ma protuberans (DFSP). Objective: To describe the clinical and histopathological characteristics, treatment and evolution of this rare neoplasm. Clinical Case: A 9-year old female presented with a 2-year history of an indurated, asymptomatic papule on the back of her fourth left toe. The incisio nal biopsy was compatible with pigmented DFSP. The immunohistochemical study showed intense positivity for CD34 throughout the lesion, with negative factor XIIIa. We complemented the study with molecular cytogenetics (FISH) for PDGFB gene (22q13.1) which showed an abnormal pattern in tumor cells, but not in the melanocytes or the peritumoral skin. Delayed Mohs surgery and skin substitute dressing were performed without neoplastic recurrence at 5 years of follow up. Conclu sion: Pigmented DFSP is a low-grade sarcoma that is very rare in pediatric patients. The classical and pigmented variants should be suspected in the presence of a single papulonodular lesion of slow and progressive growth, with presence of spindle cells with storiform pattern in the biopsy and positive immunohistochemical study for CD34. It is an entity with good prognosis, with little risk of recurren ce and metastasis, if complete excision is achieved.

Dermatofibrosarcoma Protuberans. Presentación de un caso / Dermatofibrosarcoma protuberant. Presentation of a case

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.

Dermatofibrosarcoma protuberans vulvar: tres casos clínicos de localización inusual / Dermatofibrosarcoma protuberans vulvar: three clinical cases of localization unusual

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.

Fibrosarcomatous dermatofibrosarcoma protuberans from scar following trauma

Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue neoplasm of low metastatic potential notable for its progressive growth and high rate of local recurrence after surgical excision. Fibrosarcomatous transformation of DFSP (FS-DFSP) is a rare variant characterized by higher rates of local recurrence and metastasis. Trauma has been hypothesized as a potential risk factor for the development of DFSP, although clear evidence has been lacking. In this study, we report a case of FS-DFSP that was found arising from a previously stable scar following a traumatic injury. A 49-year-old male was diagnosed with keloid scars following a motor vehicle accident where he sustained trauma. 12 years later, a large tumor developed immediately after a second traumatic event to the primary scar. Pathology of the excisional biopsy specimen demonstrated FS-DFSP with focal areas consistent with keloid and hypertrophic scar. This observation demonstrates the development of DFSP from underlying scar following a clear history of trauma. Furthermore, it suggests trauma as a possible trigger for the fibrosarcomatous transformation of DFSP.

An unusual variant of atrophic dermatofibrosarcoma protuberans

Abstract: Dermatofibrosarcoma protuberans is an uncommon neoplasm that is most often seen in young adults. The most common clinical presentation is the protruding form; however, other subtypes are known, such as the atrophic. In 2012 there were only 33 reports of this variant in the literature. Many cases of Dermatofibrosarcoma protuberans in children are only discovered in adulthood because they were not diagnosed early. Due the high morbidity, we raise the need for attention from the dermatologist to recognize uncommon neoplasms in the clinical practice. We report a case of a 15-year-old patient diagnosed with atrophic Dermatofibrosarcoma protuberans on the back.

Dermatofibrosarcoma protuberans: A propósito de un caso / Dermatofibrosarcoma protuberans: About a case

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)

Dermatofibrossarcoma protuberante diagnosticado erroneamente como queloide e tratado com acetonido de triancinolona / Dermatofibrosarcoma protuberans misdiagnosed as keloid and treated with triamcinolone acetonide

INTRODUÇÃO: Dermatofibrossarcoma protuberante é um tumor de pele raro e de malignidade intermediária, com baixo potencial metastático, mas altas taxas de recorrência após tratamento cirúrgico. Por apresentar eventual semelhança clínica com cicatrizes hipertróficas e queloides, o diagnóstico correto mostra-se fundamental para o sucesso do tratamento. O objetivo do presente trabalho é fazer um alerta e relatar quatro casos de dermatofibrossarcoma protuberante erroneamente diagnosticados como queloide e tratados alhures com infiltração de acetonido de triancinolona. MÉTODO: Entre novembro de 1983 e janeiro de 2008, foram atendidos quatro pacientes com dermatofibrossarcoma protuberante que tinham sido submetidos alhures a infiltrações intralesionais de acetonido de triancinolona, em virtude de diagnóstico errôneo de queloide. Nos quatro casos, foram realizadas excisões cirúrgicas radicais, com remoção de 3 cm de tecido sadio nas margens laterais, incluindo-se, na margem profunda, uma estrutura anatômica não infiltrada pelo tumor. Os pacientes receberam avaliação médica periódica em longo prazo. RESULTADOS: Os pacientes foram acompanhados por uma média de 159 meses. Três pacientes (75%) permaneceram vivos, sem sinais de doença em atividade. Um paciente (25%) faleceu devido à doença, após tentativa de remover o avançado tumor recorrente, por meio de extensa cirurgia craniofacial. A recidiva ocorreu sete anos após a operação radical. CONCLUSÃO: Dermatofibrossarcoma protuberante deve ser considerado no diagnóstico diferencial dos queloides. A infiltração intralesional de acetonido de triancinolona só deverá ser realizada após diagnóstico de certeza, que pode demandar exame anatomopatológico prévio. Um exame clínico cuidadoso e o conhecimento da lesão favorecem um diagnóstico preciso e, portanto, um tratamento adequado.

INTRODUCTION: Dermatofibrosarcoma protuberans is a rare skin tumor with intermediate malignancy, low metastatic potential, and high recurrence rates after surgical treatment. Owing to a possible clinical resemblance with hypertrophic scars and keloids, the correct diagnosis is fundamental for treatment success. The objective of the present work is to report on four cases of dermatofibrosarcoma protuberans misdiagnosed as keloid and treated elsewhere with infiltration of triamcinolone acetonide. METHOD: Between November 1983 and January 2008, four patients with dermatofibrosarcoma protuberans who had undergone intralesional infiltration with triamcinolone acetonide elsewhere were treated because of an erroneous diagnosis of keloid. Radical surgical excision was performed, and 3 cm of healthy tissue was removed from the side margins, including the deep margin, an anatomical structure not infiltrated by the tumor. The patients underwent long-term periodic medical evaluations. RESULTS: The patients were followed-up for an average of 159 months. Three patients (75%) are still alive without signs of disease at the time of this report. One patient (25%) died of the disease after an attempt to remove the advanced recurrent tumor using extensive craniofacial surgery. Recurrence occurred 7 years after the radical operation. CONCLUSION: Dermatofibrosarcoma protuberans must be considered in the differential diagnosis of keloids. Intralesional infiltration with triamcinolone acetonide should only be performed after diagnostic confirmation , which may require pathological examination. A careful clinical examination and knowledge of the lesion favor a precise diagnosis and an appropriate treatment.

Dermatofibrosarcoma protuberans, análisis clínico e histopatológico de los últimos 14 años en población consultante del Hospital Clínico Universidad de Chile / Dermatofibrosarcoma protuberans, clinical analysis and histopathological of the last 14 years in population consultant of the University Hospital of Chile

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.

Retalho Duoescapular: uma nova opção na cirurgia reparadora do ombro / Duoscapular flap: a new option in shoulder reconstructive surgery

INTRODUÇÃO: O Dermatofibrossarcoma do Ombro é patologia incomum e seu tratamento demanda extensas ressecções. O sistema escapular é fonte de retalhos bastante utilizados nesta região. MÉTODO: Realizado estudo longitudinal, prospectivo, através da condução de um caso de Dermatofibrossarcoma Protuberans em ombro direito, submetido a ressecção e reconstrução local com Retalho Duoescapular, obtido através da associação dos retalhos escapular e paraescapular. RESULTADOS: Paciente evoluiu sem intercorrências no pós-operatório, não sendo observadas complicações sistêmicas e locais, e limitações funcionais. CONCLUSÃO: O Retalho Duoescapular é nova e relevante opção para reconstrução de feridas extensas, com exposição de estruturas nobres no ombro. Permite fechamento primário da área doadora, sem acrescentar morbidade ao procedimento.

INTRODUCTION: Shoulder cutaneous fibrosarcoma is an unusual pathology that requires extensive resections. The scapula is a source of flaps widely used in this region. METHOD: A longitudinal and prospective study was carried out in a patient with protuberans cutaneous fibrosarcoma on the right shoulder who underwent resection followed by local reconstruction with a Duoscapular Flap (a combination of scapular and parascapular flaps). RESULTS: The patient had no postoperative complications, as systemic and local complications as well as functional limitations were not observed. CONCLUSION: Duoscapular Flap placement is a novel procedure and a relevant choice for the reconstruction of extensive wounds exposing noble structures in the shoulder. It allows the primary closure of the donor area without increasing the morbidity of the procedure.

Ressecção alargada no tratamento do dermatofibrossarcoma protuberante / Extended resection for treatment of dermatofibrosarcoma protuberans

INTRODUÇÃO: Dermatofibrossarcoma Protuberante (DFSP) é um tumor de pele raro e de malignidade intermediária, com baixo potencial metastático, mas alta taxa de recorrência após tratamento cirúrgico. O tratamento clássico é a ressecção alargada, com margens variáveis. Muitos trabalhos descreveram os resultados da cirurgia micrográfica de Mohs no tratamento desta afecção. O objetivo deste estudo retrospectivo é verificar se a ressecção alargada constitui um método confiável no tratamento do DFSP. MÉTODO: Entre agosto de 1968 e setembro de 2013, 31 lesões foram ressecadas em 30 pacientes com DFSP. Todos os pacientes foram submetidos à excisão cirúrgica radical, com remoção de 3 cm de tecido sadio nas margens laterais e com a margem profunda incluindo uma estrutura anatômica não infiltrada pelo tumor. Os seguintes aspectos foram estudados: gênero, idade, local da lesão, tratamento prévio e características peculiares da proservação. RESULTADOS: Dezenove (63,3%) pacientes eram do sexo masculino e 11 (37,7%), do feminino. A média de idade da apresentação foi de 40,9 anos. As lesões estavam localizadas em tronco (61,3%), cabeça (22,6%), membros superiores (6,4%), membros inferiores (6,4%) e pescoço (3,3%). Tratamento prévio não foi observado em 58,1% dos pacientes. Um paciente (3,3%) evoluiu com recidivas e óbito, em decorrência do tratamento cirúrgico; três (10,0%) faleceram por outras causas. CONCLUSÕES: A ressecção alargada com margens de 3 cm, com remoção de estrutura anatômica sadia, constitui método eficiente no tratamento do DFSP.

INTRODUCTION: Dermatofibrosarcoma protuberans (DFSP) is a rare skin tumor with intermediate malignancy and low metastatic potential, but a high recurrence rate after surgical treatment. The classical treatment is extended resection with varying margins. Many studies have described Mohs micrographic surgery for treatment of this disease. This retrospective study was to verify if extended resection is a reliable DFSP treatment method. METHOD: A total of 31 lesions were resected in 30 patients with DFSP between August 1968 and September 2013. All patients underwent radical surgical excision, with removal of 3 cm of healthy tissue on the lateral margins and with deep margin including an anatomical structure without tumor infiltration. Analyzed patient characteristics included sex, age, tumor site, previous treatment, and peculiar characteristics observed during the follow-up period. RESULTS: Nineteen (63.3%) patients were male and 11 (37.7%) female. Their average age at tumor presentation was 40.9 years. The tumors were located on the trunk (61.3%), head (226%), upper limbs (6.4%), lower limbs (6.4%), and neck (3.3%). No previous treatment was reported in 58.1% of the patients. One patient (3.3%) developed recurrence and died due to the surgical treatment; three patients (10.0%) died from other causes. CONCLUSIONS: Extended resection with 3-cm margins and removal of healthy anatomical structures is an effective treatment for DFSP.

Case for diagnosis

Dermatofibrosarcoma protuberans is a fibrohistiocytic tumor of intermediate malignancy with aggressive localized growth, high recurrence rate, but low metastatic potential. It appears as a hardened plaque, with slow growth, upon which the development of nodules occurs. It predominates in the trunk and is unusual in acral locations. Histopathology reveals spindle cells with storiform pattern and cartwheel-like or whirlwind-like aspect. Immunohistochemistry shows positivity for CD34. The treatment is surgical. We report a case of long evolution, with an unusual location, that relapsed after surgery, to emphasize the importance of early diagnosis and proper treatment, avoiding aggressive resections with increased morbidity.

Dermatofibrosarcoma protuberans / Dermatofibrosarcoma protuberans

El dermatofibrosarcoma protuberans es un sarcoma de partes blandas, de malignidad intermedia y lento crecimiento. Afecta adultos jóvenes y a todas las etnias, aunque algunos trabajos observan cierta predilección por la etnia negra. La localizaciónhabitual es en tronco, extremidades proximales y en menor medida encabeza y cuello. El tratamiento de elección es la exéresis quirúrgica con preferencia por la cirugía micrográfica de Mohs. Presentamos seis pacientes con diagnóstico clínico e histopatológico de dermatofibrosarcoma protuberans, 2 mujeres y 4 varones de entre 24 a 52 años. Hasta el momento, 5 de ellos recibieron tratamientoquirúrgico (técnica micrográfica de Mohs en 4 pacientes y cirugía convencional en el restante). No se observaron recidivas en un período de seguimiento promediode 20 meses...

Dermatofibrosarcoma protuberans: revisión de la literatura / Dermatofibrosarcoma protuberans: literature review

Dermatofibrosarcoma Protuberans (DFS-P) es una neoplasia de partes blandas y cutánea poco frecuente, de crecimiento superficial con tendencia a recurrir localmente y bajo potencial metastásico. Ocurre en personas de edad media, preferentemente en tronco y zonas proximales de extremidades. Requiere un alto grado de sospecha clínica, ya que inicialmente puede ser similar a una cicatriz hipertrófica o a un dermatofibroma. A continuación se realiza una revisión de la literatura sobre este tumor poco frecuente, con énfasis en las características clínicas y las opciones terapéuticas actualizadas según las guías 2010 de la National Comprehensive Cancer Network(NCCN).

Dermatofibrosarcoma protuberans (DFS-P) is a soft cutaneous neoplasm, pretty rare, with superficial growing, that tends to local recurrence. Usually it present at medium age, in trunk and the beginning of extremities. It is very difficult to diagnose at the beginning because its similarity with hypertrophic scar or dermatofibroma. We present a review in the literature of DFS-P, with emphasizing the early clinical manifestations and the different therapeutic agents recently approved by National Comprehensive Cancer Network (NCCN).

Haga su diagnóstico / Case for diagnosis

Presentamos a una paciente de 30 años de edad, que desarrolla en forma lenta y progresiva una tumoración rojo violácea multinodular de consistencia duroelástica de 20cm por 10cm en el cuadrante superoexterno de su mama derecha, a los cuatro años de habérsele extirpado un dermatofiborsarcoma protuberans (DFSP) en dicha localización. El estudio histopatológico y la imnunomarcación confirmaron la recidiva. A los dos años de la nueva intervención quirúrgica no existen evidencias de lesión neoplásica. Debe considerarse infrecuente la localización mamaria de esta patología.

A 30-year-old woman developed a slowly progressive reddish-violet multinodular rubbery lesion, measuring 20 x 10 cm in diameter, on the upper outer quadrant of her right breast four years after the surgical excision of a dermatofibrosarcoma protuberans (DFSP) in the same area. The diagnosis of DFSP was confirmed histologically and by positive immunomarkers at immunohistochemistry. A complete excision was performed and after a 2-year follow-up no recurrence was observed. It should be emphasized that DFSP of the breast is a rare occurrence.