Resumen Los sarcomas ginecológicos son infrecuentes y la localización de estos en vulva y vagina tienen una incidencia del 5% de todas las neoplasias malignas del tracto genital femenino. Presentamos el caso de una paciente de 54 años con diagnóstico de dermatofibrosarcoma protuberans en vulva, una patología infrecuente, con menos de 60 casos reportados a nivel mundial en esta localización anatómica. Clínicamente tiene un comportamiento localmente agresivo, debido a la proliferación de células fusiformes con pleomorfismo y frecuentes figuras de mitosis que infiltran la dermis reticular y tejido celular subcutáneo, dando origen a lesio nes tumorales de tamaño variable y con altas tasas de recurrencia local. El tratamiento en primera elección es la escisión quirúrgica del tumor con cirugía micrográfica de Mohs u otras técnicas quirúrgicas para evaluación completa del margen periférico circunferencial y profundo. Sin embargo, la identificación de mecanismos de carcinogénesis donde se reconoce la translocación cromosómica t (17; 22) (q22; q13), formando al gen de fusión COL1A1-PDGFB, el cual participa estimulando la proliferación celular tumoral, ha permitido la utilización de los inhibidores de la tirosina quinasa como el imatinib para la realización de terapia neoadyuvante en casos de tumores irresecables quirúrgicamente y en recurrencias locales.

Abstract Gynecological sarcomas are uncommon and their location in the vulva and vagina has an incidence of 5% of all malignant neoplasms of the female genital tract. We present the case of a 54-year-old patient with a diagnosis of derma tofibrosarcoma protuberans in the vulva, an infrequent pathology, with less than 60 cases reported worldwide in this anatomical location. Clinically it has a locally aggressive behavior, due to the proliferation of spindle cells with pleomorphism and frequent figures of mitosis that infiltrate the reticular dermis and subcutaneous cellular tissue, giving rise to tumor lesions of variable size and with high rates of local recurrence. The treatment of first choice is surgical excision of the tumor with Mohs micrographic surgery or other surgical techniques for complete evalua tion of the circumferential and deep peripheral margin. However, the identification of carcinogenesis mechanis ms where the chromosomal translocation t (17; 22) (q22; q13) is recognized, forming the COL1A1-PDGFB fusion gene, which participates in stimulating tumor cell proliferation, allowing treatment with tyrosine kinase inhibitors such as imatinib for neoadjuvant therapy of surgically unresectable tumors and local recurrences.

Resumen Los sarcomas ginecológicos son infrecuentes y la localización de estos en vulva y vagina tienen una incidencia del 5% de todas las neoplasias malignas del tracto genital femenino. Presentamos el caso de una paciente de 54 años con diagnóstico de dermatofibrosarcoma protuberans en vulva, una patología infrecuente, con menos de 60 casos reportados a nivel mundial en esta localización anatómica. Clínicamente tiene un comportamiento localmente agresivo, debido a la proliferación de células fusiformes con pleomorfismo y frecuentes figuras de mitosis que infiltran la dermis reticular y tejido celular subcutáneo, dando origen a lesiones tumorales de tamaño variable y con altas tasas de recurrencia local. El tratamiento en primera elección es la escisión quirúrgica del tumor con cirugía micrográfica de Mohs u otras técnicas quirúrgicas para evaluación completa del margen periférico circunferencial y profundo. Sin embargo, la identificación de mecanismos de carcinogénesis donde se reconoce la translocación cromosómica t (17; 22) (q22; q13), formando al gen de fusión COL1A1-PDGFB, el cual participa estimulando la proliferación celular tumoral, ha permitido la utilización de los inhibidores de la tirosina quinasa como el imatinib para la realización de terapia neoadyuvante en casos de tumores irresecables quirúrgicamente y en recurrencias locales.

Abstract Gynecological sarcomas are uncommon and their location in the vulva and vagina has an incidence of 5% of all malignant neoplasms of the female genital tract. We present the case of a 54-year-old patient with a diagnosis of dermatofibrosarcoma protuberans in the vulva, an infrequent pathology, with less than 60 cases reported worldwide in this anatomical location. Clinically it has a locally aggressive behavior, due to the proliferation of spindle cells with pleomorphism and frequent figures of mitosis that infiltrate the reticular dermis and subcutaneous cellular tissue, giving rise to tumor lesions of variable size and with high rates of local recurrence. The treatment of first choice is surgical excision of the tumor with Mohs micrographic surgery or other surgical techniques for complete evaluation of the circumferential and deep peripheral margin. However, the identification of carcinogenesis mechanis ms where the chromosomal translocation t (17; 22) (q22; q13) is recognized, forming the COL1A1-PDGFB fusion gene, which participates in stimulating tumor cell proliferation, allowing treatment with tyrosine kinase inhibitors such as imatinib for neoadjuvant therapy of surgically unresectable tumors and local recurrences.

ABSTRACT Dermatofibrosarcoma protuberans (DFSP) is a relatively rare, locally aggressive, and dermal-based fibroblastic tumor. There are several histological variants, in which the usual emphasis is on fibrosarcomatous DFSP, as it acquires metastatic potential. Myoid differentiation in DFSP is rare, and more often found in fibrosarcomatous DFSP. Myoid differentiation is defined as tumor cells with brightly eosinophilic cytoplasm, well-defined cytoplasmic margins, and vesicular nuclei. In this study, we aim at characterizing the immunostaining pattern regarding myoid differentiation in DFSP, and discuss the potential pitfall in making the diagnosis. A total of ten cases of DFSP were found in the past ten years in our hospital. Two of them show focal myoid differentiation, including the only case of fibrosarcomatous DFSP. Around 5% of the tumor area in the traditional DFSP case shows myoid differentiation, while around 10% of the tumor area in fibrosarcomatous DFSP shows myoid differentiation. The myoid areas show positive staining, albeit patchy to focal, for smooth muscle markers, including smooth muscle actin, muscle-specific actin, caldesmon, and calponin. Staining for CD34, in those areas, is weak or negative. This may create diagnostic difficulty with smooth muscle tumors or myofibroblastic lesions, especially in a small biopsy sample. In difficult cases, the detection of COL1A1-PDGFB fusion by fluorescence in situ hybridization is helpful, as this is a characteristic chromosomal translocation found in the large majority of DFSP.

Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing, spindle cell neoplasm with low to intermediate grade malignant potential, commonly found in young and middle-aged adults, more in males than females. DFSP mostly originates in the dermis; rarely, it may be located in the deeper tissues without dermal involvement. Typically, DFSP appears as a multinodular mass, which then spreads into the subcutaneous tissues and muscle; it rarely dedifferentiates to high-grade fibrosarcoma, and more rarely, it may metastasise. We describe magnetic resonance imaging (MRI) features in three female patients with histologically proven DFSP and review the literature.

Abstract Non-painful skin tumor, mainly in the dermis of trunk and lower limbs. 80 to 90% are considered low grade and less than 3% metastasize. Clinical case: 29-year-old woman with lesion in the left ciliar region, resected on two occasions and presenting recurrence on both, the last growth presenting occlusion of the left eye. Histopathological report: dedifferentiated dermatofibrosarcoma protuberans. Wide tumor resection was performed in the left frontonasal region and dorsal flap reconstruction. Actually, 6 years after surgery, the patient has shown no signs of recurrence. Conclusion: Infrequent skin tumor, with a high degree of recurrence, a low degree of metastasis and high survival rates.

Resumen El dermatofibrosarcoma protuberans facial gigante es un tumor cutáneo no doloroso, principalmente en dermis del tronco y miembros inferiores. Del 80 al 90% son bajo grado y menos del 3% metastatizan. Caso clínico: Mujer de 29 años de edad con lesión en región ciliar izquierda, resecada en dos ocasiones y recurrencia en ambas; el último crecimiento presenta oclusión del ojo izquierdo. Reporte histopatológico: dermatofibrosarcoma protuberans desdiferenciado. Se realiza resección amplia de tumor en región frontonasal izquierda más reconstrucción colgajo dorsal. Actualmente, a seis años de la intervención, paciente sin signos de recaída. Conclusión: Tumor de piel infrecuente, de alto grado de recurrencia, bajo grado de metástasis y altas tasas de supervivencia.

Abstract Dermatofibrosarcoma protuberans is a rare mesenchymal tumor; it is locally aggressive and presents high rates of local recurrence. It may present as a nodular or plaque vegetating lesion. It mainly affects the trunk and proximal limbs, being rare in the distal extremities. Biopsy and immunohistochemistry help confirm the diagnosis. The authors report a case of dermatofibrosarcoma protuberans with plantar region involvement, a rare presentation. To the best of the authors’ knowledge, only 11 cases of involvement of the feet were described in the international literature.

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.

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.

Resumen El dermatofibrosarcoma protuberans (DFSP) es un sarcoma cutáneo de baja incidencia y lento crecimiento que afecta principalmente a personas de entre 20 a 39 años y es más frecuente en afrodescendientes. La localización anatómica más común es el tronco, seguido de las extremidades superiores. La etiología no está clara, pero la mayoría de los casos presentan rearreglos genéticos que involucran los genes COL1A1 y PDGFB. El riesgo de metástasis es bajo, pero tiene tendencia a la recurrencia local, especialmente en: los tumores resecados con márgenes insuficientes, los tumores profundos y los tumores que presentan cambio fibrosarcomatoso. La primera línea de manejo para la enfermedad local es la cirugía con la resección local amplia o la cirugía micrográfica de Mohs (CMM), que ha mostrado recurrencias consistentemente bajas. La radioterapia se ha usado para tumores irresecables o como adyuvancia. En los casos de enfermedad metastásica el manejo de elección es el imatinib.

Abstract Dermatofibrosarcoma protuberans (DFSP) is a low incidence and slow growing cutaneous sarcoma that mainly affects individuals between 20 and 39 years old and is more frequent in black race. The most common anatomical site is the trunk, followed by the upper extremities. The etiology is unclear, but the most cases present genetic rearrangements involving the COL1A1 and PDGFB genes. The risk of metastasis is low, but it tends to local recurrence, especially when section margins were insufficient, in deep tumors or those with fibrosarcomatous change. The first line of treatment for local disease is surgery; wide local resection or Mohs micrographic surgery (MMS). The latter technique has shown consistently low recurrence rate. Radiotherapy has been used for unresectable cases or as adjuvant therapy. Imatinib is useful for metastatic disease.

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.

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 A 60-year-old male patient with a skin lesion of 45 days of evolution, located on the right thigh, with a tumorlike appearance, which occasionally bled and itched and did not resolve with the indicated medical treatments. It was diagnosed as a protuberant dermatofibrosarcoma in the Dermatology Service of the Clinical-Surgical Hospital of Holguín, and it was transferred to the Oncology Service of the Vladimir Ilich Lenin Hospital in Holguín for surgery, with of oncology wide range and a satisfactory recovery during 3 years. Although the tumor is highly invasive locally, with a high incidence of recurrence no other complications have been reported.

RESUMEN Paciente masculino de 60 años, con lesión en la piel de 1 mes y medio de evolución, localizada en el muslo derecho, de aspecto tumoral, que ocasionalmente sangraba y picaba, pero no resolvía con los tratamientos médicos indicados. En el Servicio de Dermatología del Hospital Clínico-Quirúrgico de Holguín, se diagnosticó como un dermatofibrosarcoma protuberante; por lo que se traslada al Servicio de Oncología del Hospital Vladimir Ilich Lenin, de Holguín, para cirugía; la cual se realizó con un amplio margen oncológico y una recuperación satisfactoria. Durante 3 años no se ha reportado recidivancia u otra complicación, a pesar de ser un tumor altamente invasivo localmente, con notable incidencia de recidivancia.

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.

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.

A 16-year-old male presented with a 2-year history of a 5 x 5 cm dermatofibrosarcoma protuberans (DFSP) on the medial aspect of his right lower leg. Wide local excision (WLE) with a 2cm margin was performed and a free anterolateral thigh (ALT) flap was used to reconstruct the defect. This technique satisfactorily reconstructed a large defect in an adolescent with minimal donor site morbidity, as the donor site was closed primarily, and a functionally and aesthetically acceptable outcome. There was no evidence of tumour recurrence at 6 months follow-up.

Abstract: Introduction: Fibrous hamartoma of infancy (FHI) is a benign, soft tissue tumor that usually oc curs in children and has a characteristic histological morphology. Objective: To describe a case of congenital FHI with atypical histological and clinical characteristics. Clinical case: Full-term male newborn, with no perinatal morbid history was referred to dermatology due to a congenital erythe matous plaque in the umbilical region. The histological study showed a fusocelullar proliferation in dermis and hypodermis of biphasic distribution, with an infiltrative, swirling pattern and bundles of spindle fibroblast-like and myofibroblast-like cells, associated in depth with a mature adipose tissue component. The immunohistochemical study revealed diffuse positivity for CD34, and focal posi tivity for FXIIIa, without immunoreactivity for actin, desmin, MyoD1, S100, HMB45, Melan-A, or EMA. Fluorescent in situ hybridization (FISH) was negative for platelet-derived growth factor recep tor beta (PDGFR-beta) and for ETV6 gene. PDGFR-beta and ETV6 gene are present in congenital dermatofibrosarcoma protuberans and infantile fibrosarcoma, respectively. This history, in addition to previous histological findings, supported the diagnosis of FHI. Surgical resection was performed, without signs of recurrence during clinical follow-up. Conclusion: It is important to consider the FHI within the differential diagnosis of subcutaneous tumors in children, especially in those under two years of age. Although its behavior is benign, it is similar to multiple benign and malignant le sions, which makes it imperative to perform a histological study in front of suspicious clinical lesions.

Resumen: Introducción: el hamartoma fibroso de la infancia (HFI) es un tumor benigno de partes blandas que se presenta generalmente en población infantil y que posee una morfología histológica característica. Objetivo: describir un caso de HFI congénito de características clínicas e histológicas atípicas. Caso Clínico: recién nacido de término, sexo masculino, sin antecedentes mórbidos perinatales, es deriva do a dermatología por placa eritematosa congénita en región umbilical. Estudio histológico evidenció proliferación fusocelular en dermis e hipodermis, de morfología bifásica, con un patrón arremolina do infiltrante y otro de bandas de células fusadas con hábitos fibroblásticos y miofibroblásticos, aso ciada en profundidad a un componente de tejido adiposo maduro. El estudio inmunohistoquímico mostró positividad difusa a CD34 y focalmente para FXIIIa, con ausencia de inmunoreactividad a ac- tina, desmina, MyoD1, S100, HMB45, Melan A y EMA. Fluorescent in situ hybridization (FISH) para platelet-derived growth factor beta (PDGF beta) y para el gen ETV6 negativos, presentes en el dermatofibrosarcoma protuberans congénito y fibrosarcoma infantil, respectivamente. Estos antecedentes, sumado a los hallazgos histológicos previos, apoyaron el diagnóstico de HFI. Se realizó extirpación quirúrgica, sin signos de recidiva durante el seguimiento clínico. Conclusión: es importante consi derar el HFI dentro del diagnóstico diferencial de tumores subcutáneos infantiles, principalmente en población menor de 2 años. Si bien su comportamiento es benigno, presenta similitud con múltiples lesiones benignas y malignas, lo que hace imperativo realizar un estudio histológico exhaustivo ante lesiones clínicas sospechosas.

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.

ABSTRACT Introduction: Dermatofibrosarcoma protuberans is a rare skin tumor with intermediate malignancy and low metastatic potential, but a high recurrence rate after surgical treatment. Treatment involves extended resection with variable margins. Methods: Patients were managed with preceding expansion of tissues of the forehead using two conventional expanders. The lateral margins of normal-appearing tissue 3-cm apart were tattooed with China ink. In a preceding operation, expanders were inserted through skin incisions at a distance from the marks, by undermining the surgical plane just above the periosteum, while preserving the area of wide resection previously delimited. After the lateral tissues were expanded, the patients underwent surgical resection. The deep margin included the outer table of the frontal bone. The expansion period averaged 45 days. Results: Three cases of dermatofibrosarcoma protuberans of the forehead with involvement of the outer table of the frontal bone are described. The expanded flaps easily closed the defects. The average follow-up was 194 months without tumor recurrence. Conclusion: Preceding expansion of forehead tissue in the treatment of dermatofibrosarcoma protuberans with invasion of frontal bone, using 3-cm lateral margins and removal of the outer table of the frontal bone, allowed easy closure of the defect in 3 different patients. Average follow-up of 194 months with no recurrence of the lesion showed the effectiveness of the method.

RESUMO Introdução: Dermatofibrossarcoma protuberante é um tumor cutâneo raro de malignidade intermediária e potencial metastático baixo, apresentando, entretanto, alta taxa de recorrência após tratamento cirúrgico. O tratamento cirúrgico clássico é a ressecção alargada com margens variadas. Métodos: Os pacientes foram submetidos à expansão prévia dos tecidos da região frontal utilizando dois expansores convencionais. Margens laterais de 3 cm de tecido de aparência normal foram tatuadas com tinta nanquim. Os expansores foram incluídos em uma cirurgia anterior, através de incisões cutâneas distantes dessas marcas, em um plano cirúrgico logo acima do periósteo, preservando a área de ressecção alargada previamente delimitada. Os tecidos laterais foram expandidos e, posteriormente, os pacientes foram submetidos à ressecção do tumor. A margem profunda incluiu da lâmina externa do osso frontal. O período médio de expansão foi de 45 dias. Resultados: Foram relatados três casos de dermatofibrossarcoma protuberante da região frontal com envolvimento da lâmina externa do osso frontal. Os retalhos expandidos fecharam facilmente os defeitos. O acompanhamento pós-operatório médio foi de 194 meses, sem nenhuma recorrência tumoral. Conclusão: A expansão tecidual prévia da região frontal no tratamento do dermatofibrossarcoma protuberante, invadindo o osso frontal, usando margens laterais de 3 cm com remoção da lâmina externa, permitiu facilmente o fechamento do defeito, em três pacientes. O tempo de acompanhamento médio de 194 meses sem nenhuma recorrência tumoral mostrou a eficiência do método.