Descripción de 4 casos: tumor desmoide de la mama, diagnóstico y manejo de un tumor infrecuente / Description of four cases: desmoid tumor of the breast, diagnosis and management of a rare tumor

Introducción: el tumor desmoide (TD) de la mama es una lesión poco frecuente constituida por proliferación de células fibroblásticas. Puede localizarse a nivel intra o extraabdominal y la localización mamaria es excepcional. Aunque es una lesión benigna tiene un comportamiento localmente agresivo sin metástasis ganglionar o a distancia. Su etiología es desconocida y entre el 10 y 20% de los casos están relacionados con la poliposis adenomatosa familiar. Se presenta como un nódulo sólido de nueva aparición e indoloro. El tratamiento clásicamente ha sido la resección quirúrgica, con elevadas tasas de recurrencia a pesar de márgenes libres. Otras terapias están siendo estudiadas. Nuestro objetivo es revisar el manejo del TD de la mama a través del análisis de la casuística en nuestro centro en los últimos 10 años y la revisión de las evidencias disponibles. Métodos: análisis descriptivo retrospectivo. Los casos se identificaron empleando el sistema de explotación de la información del hospital. Se realizó una revisión narrativa de la literatura. Resultados: nuestra serie consta de 4 casos, mujeres de entre 36 y 66 años. Tres de ellas consultaron por nódulo palpable. La BAG presentó hallazgos compatibles con un TD. Los casos fueron presentados en un comité multidisciplinar y se propuso una resección quirúrgica amplia. La AP confirmó el diagnóstico y en uno de los casos informó de márgenes afectos. Durante el seguimiento se evidenció recidiva en dicho caso. Conclusiones: los TD son tumores infrecuentes, de repercusión clínica y respuesta al tratamiento variable. Este debe incluir la opción expectante y, en cualquier caso, individualizarse y consensuarse dentro de una perspectiva multidisciplinar. (AU)

Introduction: The desmoid tumor (DT) of the breast is a rare lesion consisting of proliferation of fibroblastic cells. It can be located intra- or extra-abdominally and the mammary location is exceptional. Although it is a benign lesion, it has a locally aggressive behavior without lymph node or distant metastasis. Its etiology is unknown and 10–20% of cases are related to familial adenomatous polyposis. It presents as a new, painless solid nodule. The treatment has traditionally been surgical resection, with high rates of recurrence despite free margins. Other therapies are being studied. Our objective is to review the management of DT of the breast through the analysis of the casuistry in our center in the last 10 years and the review of the available evidence. Methods: Retrospective descriptive analysis. The cases were identified using the hospital information exploitation system. A narrative review of the literature was performed. Results: Our series consists of 4 cases, women between 36 and 66 years old. Three of them consulted for a palpable nodule. The CNB presented findings compatible with DT. The cases were presented to a multidisciplinary committee and a wide surgical resection was proposed. The AP confirmed the diagnosis and in one of the cases reported affected margins. During follow-up, recurrence was observed in this case. Conclusions: DTs are infrequent tumors, with clinical repercussions and variable response to treatment. This must include the expectant option and, in any case, be individualized and agreed upon within a multidisciplinary perspective. (AU)

Tumor desmoide intraabdominal y enfermedad inflamatoria intestinal crónica. Un escenario poco común / No disponible

No disponible

Fibroma desmoide de la clavícula detectado mediante PET/TC con 18F-NaF / Desmoid fibroma in the clavicle detected by 18F-NaF PET/CT

No disponible

Tumor desmoide gigante de pared torácica con crecimiento intratorácico / Giant Desmoid Tumor Of The Chest Wall With Intrathoracic Growth

No disponible

Factores de riesgo para la recidiva local de la fibromatosis / Risk factors for local recurrence of fibromatosis

Objetivo. Valorar los factores clínicos, radiológicos e histológicos que pueden predecir la recidiva local de fibromatosis. Métodos. Hemos realizado un estudio retrospectivo de 51 pacientes con diagnóstico de fibromatosis en nuestra institución desde 1983 hasta 2014. La media de seguimiento es de 83 meses. Hemos estudiado parámetros clínicos, localización, profundidad, tamaño, márgenes quirúrgicos e índice de proliferación (Ki-67) del tumor. Asimismo, hemos valorado el riesgo de recidiva en función del tratamiento adyuvante y la relación del tratamiento con la funcionalidad del paciente. Resultados. Hemos observado diferencias estadísticamente significativas en cuanto a la profundidad (p=0,003) y la localización (p<0,001) como factores de riesgo de recidiva local. No existen diferencias estadísticamente significativas en cuanto a edad, sexo, tamaño, márgenes quirúrgicos ni tratamientos adyuvantes, ni en el Musculoskeletal Tumor Society Score en función del tratamiento recibido. El Ki-67 tiene una media de 1,9% (rango 1-4) y su valor no se asocia con el riesgo de recidiva. Discusión. Los tumores profundos a la fascia y los localizados en extremidades son más agresivos que los localizados superficialmente y en el tronco. El Ki-67 no tiene valor predictivo en las recidivas de la fibromatosis. La radioterapia, la quimioterapia u otros tratamientos adyuvantes como el tamoxifeno no han sido eficaces en el control local de la enfermedad. La gran cantidad de recidivas, incluso en pacientes con resecciones adecuadas, induce a plantear la posibilidad de una actitud expectante en tumores asintomáticos o en enfermedad estable (AU)

Objective. To evaluate the clinical, radiological and histological factors that can predict local recurrence of fibromatosis. Methods. A retrospective study was conducted on 51 patients diagnosed with fibromatosis in this hospital from 1983 to 2014. The mean follow-up was 83 months. A study was made of the clinical parameters, location, depth, size, surgical margins, and proliferation index (Ki-67). An evaluation was also made of the risk of recurrence depending on the adjuvant treatment and the relationship between treatment and patient functionality. Results. Tumour location and depth were identified as risk factors for local recurrence, showing statistically significant differences (P<.001 and P=.003, respectively). There were no statistically significant differences in age, gender, size, surgical margins, or adjuvant treatments, or in the Musculoskeletal Tumour Society Score according to the treatment received. The mean Ki-67 was 1.9% (range 1-4), and its value was not associated with the risk of recurrence. Discussion. Deep fibromatosis fascia tumours, and those located in extremities are more aggressive than superficial tumours and those located in trunk. The Ki-67 has no predictive value in local recurrence of fibromatosis. Radiotherapy, chemotherapy, or other adjuvant treatments such as tamoxifen have not been effective in local control of the disease. Given the high recurrence rate, even with adequate margins, a wait and see attitude should be considered in asymptomatic patients and/or stable disease (AU)

¿Podría englobarse la fibromatosis agresiva dentro del espectro de los tumores del estroma gastrointestinal? / Could aggressive fibromatosis be considered whitin the spectrum of gstrointestinal stromal tumors?

Los tumores desmoides aparecen como resultado de la proliferación fibroblástica, sin signos histológicos de malignidad pero localmente muy agresivos. Se han descrito casos de fibromatosis tras extirpación de GIST. Presentamos el caso de un GIST gástrico operado, que a los 18 meses se realiza laparotomía exploradora por sospecha de recurrencia y tras hallazgos histológicos definitivos, se diagnostica de fibromatosis intra-abdominal agresiva. Se discute la valoración clínico-oncológica de la fibromatosis como forma de recurrencia local del GIST

Desmoid tumors appear as a result of fibroblastic proliferation without histological signs of malignancy but locally aggressive. Fibromatosis have been described after removing a gastrointestinal stromal tumor (GIST). We present a case of a resected gastric GIST and eigthteen months after surgery, a exploratory laparotomy was performed suspecting recurrence and after definitive histological findings, the diagnosis was aggressive intra-abdominal fibromatosis. Clinical-oncological assessment of fibromatosis is discussed as a form of GIST local recurrence

Tumores desmoides intraabdominales / Intraabdominal desmoid tumors

No disponible

Reconstrucción de pared torácica con malla de titanio en paciente con tumor desmoide / Chest wall reconstruction with a titanium mesh in patient with desmoid tumour

Se presenta una paciente de 22 años con tumor desmoide de pared torácica y antecedente de cirugía de reconstrucción mamaria, que se sometió a resección de pared torácica y reconstrucción de esqueleto óseo empleando una malla de titanio como alternativa al metilmetacrilato. La prótesis se cubrió con epiplón mayor y el postoperatorio cursó sin complicaciones. El empleo de mallas de metilmetacrilato maleables proporciona estabilidad a los defectos de pared torácica, son fáciles de implantar y evitan las complicaciones inherentes al empleo de otras prótesis como el metilmetacrilato (AU)

We present a 22-year old patient with a desmoid tumour of chest wall and previous breast reconstructive surgery, who underwent a chest wall resection and reconstruction by using a titanium mesh, as an alternative to the conventional methyl metacrylate mesh. The titanium mesh was covered with omentum and the postoperative course was uneventful. The use of a malleable titanium mesh provides optimal stabilization for chest wall defects, they are easy to use, and avoid the potential complications inherent to the methylmetacrylate and other prosthetic material (AU)

La Radiología y el efecto mariposa / No disponible

No disponible

Multiple desmoid tumors in a patient with familial adenomatous polyposis caused by the novel W421X mutation / Tumor desmoide múltiple en un paciente con poliposis adenomatosa familiar originada por la nueva mutación W421X

Familial adenomatous polyposis (FAP) is a rare syndrome characterized by the presence of hundreds to thousands of colorectal adenomas and is responsible for less than 1% of all colorectal cancers. The syndrome is also characterized by extra-colorectal features including amongst others upper gastrointestinal tract polyps and desmoid tumors. The syndrome is inherited by an autosomal dominant gene, the adenomatous polyposis coli (APC) gene. We present the physical history, clinical presentation, diagnosis and treatment of a patient with a novel germline APC mutation, the W421X mutation, which resulted in FAP presenting with about a hundred colorectal polyps, gastric hyperplastic polyps and multiple aggressive intra-abdominal and extra-abdominal desmoid tumors (AU)

No disponible

Tumor desmoide intraabdominal simulando una tumoración pancreática en una paciente con poliposis colónica familiar / Intra-abdominal desmoid tumor mimicking a pancreatic tumor in a patient with familial colonic polyposis

IntroducciónLa fibromatosis es una proliferación fibroblástica benigna con crecimiento infiltrativo local. Se clasifica en una forma superficial y en una forma profunda, también denominada tumor desmoide (TD). Esta última puede presentarse en forma esporádica o asociada a la poliposis adenomatosa familiar y síndrome de Gardner. La presentación pancreática es excepcional y sólo existen 8 casos descritos en la literatura médica.Observación clínicaMujer de 29 años con antecedentes de PCF y 2 lesiones pancreáticas. En la pieza quirúrgica se observaron 2 lesiones mal delimitadas en el páncreas con infiltración de órganos vecinos. Histológicamente, correspondían a una proliferación de estirpe mesenquimatosa de patrón fusocelular sin atipias citológicas, que se diagnosticaron de TD.DiscusiónLa etiología de la fibromatosis es desconocida. En pacientes con PCF la localización más habitual de los TD es intraabdominal siendo inusual la presentación pancreática. Esto plantea el diagnóstico diferencial con otras neoplasias del páncreas(AU)

IntroductionFibromatosis consists of a benign fibroblastic proliferation with local infiltrative growth. Two types are recognized: a superficial and a deep form, also known as desmoid tumor. The latter may occur sporadically or in association with familial adenomatous polyposis and Gardner's syndrome. Pancreatic presentation is exceptional and only eight cases have been described in the literature.Case reportWe report the case of a 29-year-old woman with a history of familial colonic polyposis and two pancreatic lesions. In the surgical specimen, two poorly defined pancreatic lesions were observed with infiltration of neighboring organs. Histologically, the lesions corresponded to mesenchymal proliferation with a fusocellular pattern without cytological atypica, which were diagnosed as desmoid tumors.DiscussionThe etiology of fibromatosis is unknown. In patients with familial colonic polyposis, the most common localization of desmoid tumor is intra-abdominal. Pancreatic presentation is unusual, requiring differential diagnosis with other pancreatic neoplasms(AU)

Multimodal treatment of desmoid tumours: the significance of local control

INTRODUCTION: Desmoid tumours are a rare group of tumours arising in the deep musculoaponeurotic structures and although they have no metastatic potential they can be locally aggressive with relapse rates of between 23-40%. Three sub-sites are reported: extra-abdominal, abdominal wall and intra-abdominal. The purpose of this study was to analyze patients with these tumours treated and followed at our institution and to determine factors influencing disease free survival. MATERIAL AND METHODS: We conducted a retrospective study of 20 patients treated between 1997 and 2009. Data was compiled to include age, gender, surgical history, familial adenomatous polyposis (FAP), contraceptives, tumour site, first-line treatment, positive margins and adjuvant radiotherapy. A descriptive and survival statistical analysis was also performed. RESULTS: Most patients were women, with a median age of 36 years, with abdominal wall involvement and treated with complete surgery without adjuvant radiotherapy. With a median follow-up of 35 months (range 0-188), local control at 5 years for any kind of treatment was 80%. Overall survival (OS) and 5-year progression-free survival (PFS) were 100% and 86%, respectively. CONCLUSION: Desmoid tumours are group of rare tumours. Although complete surgical resection remains the cornerstone of treatment for resectable lesions, there is still substantial risk of recurrence. Our outcomes are comparable to those reported in the few series published to date (AU)

Insidious mastalgia hiding a desmoid tumour of the breast

Fibromatosis is a rare, locally aggressive and bening breast tumor that presents problems in the diagnosis and may mimic breast cancer on physical examination, mammography and breast ultrasound. Definitive diagnosis is reached by histologic findings. This case shows the unusual presentation in our patient and management of this unfrecuent desmoid tumor (AU)

Tumor desmoide de la pared torácico-abdominal. Caracterización con PET-TAC con 18F-fluorodesoxiglucosa y correlación con resonancia magnética y gammagrafía ósea. Revisión de la literatura / Desmoid tumor of the chest wall characterized with 18F-fluorodeoxyglucose PET/ CT scan. Correlation with magnetic resonancy and bone scintigraphy. Review of the literature

Los tumores desmoides son una entidad benigna infrecuente, pero con un comportamiento agresivo, que provienen de una proliferación de fibroblastos bien diferenciados. Clínicamente se muestran como una masa dura e indolora de partes blandas, que puede ser solitaria o múltiple. Presenta un potencial infiltrativo local del que deriva su agresividad. A la hora de planear su tratamiento es fundamental determinar sus correctas extensión y delimitación para permitir una cirugía curativa y minimizar el riesgo de recurrencias locales. Diferentes técnicas de imagen ayudan a la caracterización de estos tumores. En la actualidad, la resonancia magnética es la herramienta de elección en la evaluación de estas neoplasias. Queda por definir el papel de las técnicas de medicina nuclear, como la gammagrafía ósea o, más recientemente, la tomografía de positrones con 18F-fluorodesoxiglucosa, en el diagnóstico y la evaluación de este tipo de tumores. Presentamos el caso de un paciente con un tumor desmoide de la pared toracicoabdominal en que estudiamos las técnicas de medicina nuclear y revisamos la literatura al respecto(AU)

Desmoid tumours are uncommon benign tumours but with aggressive behaviour, resulting from the proliferation of well-differentiated fibroblasts. Clinically, they present as a painless firm soft tissue mass. They can be solitary or multiple and have potential infiltrative capacity. When planning treatment, it is important to assess the correct tumour extent to permit curative radical surgery minimizing possible local recurrence. Different imaging techniques help to characterise these tumours. At present, magnetic resonance is the tool of choice for studying these tumours. The role of nuclear medicine techniques, such as bone scintigraphy, or more recently FDG-PET, has not been defined in the evaluation of these neoplasms. We present the case of a patient with a desmoid tumour of the abdominal-chest wall and we review the related literature(AU)

Desmoid tumor of the tongue

Desmoid tumors are rare neoplasms accounting for 0.03% of all neoplasms and have an estimated incidence of 2 to 4per million per year. World Health Organization currently refers to all of the deep types of fibromatosis as desmoidtypeof fibromatoses. The term “desmoid” refers to the hard, tendon-like appearance of the tumor. The etiologicalfactors suggested include genetic, endocrine and physical factors. About fifty percent of desmoid tumors arise in theabdominal region. The extra-abdominal desmoid tumors present a difficult problem in recognition and managementespecially because of the striking discrepancy between its deceptively harmless microscopic appearance and its potentialto attain a large size, to recur, and to infiltrate neighboring tissues in the manner of a fibrosarcoma. Desmoidtumors are very rare in the oral cavity with less than 5% of cases constituting oral soft tissue fibromatosis. A 22-yearold mentally retarded female patient with desmoid tumor occurring in the tongue is presented here (AU)

Tumor desmoide mesentérico simulando una recidiva de cáncer tesitular / Mesenteric desmoid tumor mimicking a testicular cancer recurrence

Objetivo: Presentar un caso de un tumor desmoide en un paciente tratado de un seminoma testicular que simulaba una recidiva del tumor testicular. Método: Presentamos el caso de un paciente de 41 años, tratado de un seminoma testicular 26 meses antes, mediante extirpación de una masa testicular retroperitoneal y quimioterapia, que presenta en el seguimiento, una masa abdominal mesentérica que se etiquetó clínicamente de recidiva de seminoma. Resultado: Histológicamente se informa de tumor desmoide mesentérico. Se hace diagnóstico diferencial con un tumor de estroma gastrointestinal mediante el estudio inmunohistoquímico. Conclusiones: El tumor desmoide es un tumor raro. Se han descrito pocos casos en pacientes afectos previamente de tumor testicular. Debe incluirse en el diagnóstico diferencial de las recidivas por tumor testicular (AU)

Objective: Report of one case of desmoid tumor in a patient who had been treated of a testicular seminoma 26 months before, with excision of a retroperitoneal mass and chemotherapy. On follow-up he presented with a mesenteric abdominal mass which was clinically labeleled as a recurrence of the seminoma. Results: Histologically it was reported as a mesenteric desmoid tumor. Differential diagnosis with gastrointestinal stromal tumor was performed with immunohistochemical studies. Conclusions: Desmoid tumor is rare. There are few cases reported in patients with history of previous testicular tumor. It should be included in the differential diagnosis of testicular tumor recurrences (AU)

Tratamiento de un tumor desmoide mediante inyección percutánea de ácido acético 50 por ciento / No disponible

No disponible

Fibromatosis mamaria en paciente con tumorectomía previa / Breast fibromatosis in a patient with prior tumorectomy

La fibromatosis (tumor desmoide) es un tumor benigno de origen mesenquimal. La localización mamaria es excepcional y su etiología es desconocida. La fibromatosis mamaria parece, tanto clínica como radiológicamente, un carcinoma. El diagnóstico es hitológico y el tratamiento de elección es la exéresis quirúrgica. Se presenta uncaso en que el estudio histológico mostró un tumor desmoide extraabdominal, de localización mamaria, en una paciente de 23 años con antecedente de tumorectomía mamaria ipsolateral (AU)

Fibromatosis (desmoid tumors) is a rare benign mesenchytomatous proliferative process. The breast is an excepcional site. Etiology is still unknown. Fibromatosis of the breast mimics carcinoma clinically as well as radiographically. Diagnosis is made by histological studies. The treatment of choice is wide excision. We report the case of a 23-year-old woman with a previous ipsilateral breast tumorectomy (AU)