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Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

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OBJECTIVE: Extra-abdominal desmoid tumor (EDT) is a rare condition, caused by proliferation of fibroblasts. Despite being a benign tumor, it is locally aggressive and has unpredictable clinical behavior. The objective of this study is to present the clinical outcomes of patients with EDT treated surgically between 1995 and 2016. METHODS: This is a retrospective series of 23 patients with histopathological diagnosis of EDT that underwent surgery at the orthopedic oncology service of our hospital. The information was obtained from the institute's clinical and pathology reports. RESULTS: A total of 223 medical records with histopathological reports were evaluated. Only 23 cases of EDT were included in the present study. The mean age was 22.5 years. Twelve (52.2%) patients had the tumor on the lower limbs, seven (30.4%) on the upper limbs and four (17.4%) cases were reported on the back. Five (21.7%) patients had tumors measuring less than 5 cm, while eighteen (78.3%) patients had tumors measuring more than 5 cm. All patients underwent surgery as the definitive treatment in our institute. Twelve (52.2%) cases presented negative margins (NM) and eleven (47.8%) cases had positive margins (PM). Local recurrence (LR) occurred in eleven (47.8%) patients. CONCLUSION: Impairment of the surgical margin was the only prognostic factor found for LR of EDT. Level of Evidence IV, Case Series.

OBJETIVO: O tumor desmoide extra-abdominal (TDE) é raro, formado por proliferação de fibroblastos. Apesar de ser um tumor benigno, é localmente agressivo e tem comportamento clínico imprevisível. O objetivo desta pesquisa é apresentar os resultados clínicos obtidos nos pacientes com TDE, tratados cirurgicamente entre 1995 e 2016. MÉTODOS: Trata-se de uma série retrospectiva de 23 pacientes com diagnóstico anatomopatológico de TDE, tratados cirurgicamente no serviço de oncologia ortopédica de nosso hospital. A informação foi obtida dos relatos clínicos e patológicos do instituto. RESULTADOS: Um total de 223 prontuários com relato anatomopatológico foi revisado. Apenas 23 casos de TDE foram incluídos no presente estudo. A média de idade foi de 22,5 anos. Doze (52,2%) casos se localizaram nos membros inferiores, sete (30,4%) casos nos membros superiores e quatro (17,4%) casos se localizaram no dorso. Cinco (21,7%) casos tinham tamanho < 5 cm e 18 (78,3%) casos tinham tamanho > 5 cm. Todos os pacientes receberam tratamento cirúrgico como terapia definitiva no instituto. Doze (52,2%) casos apresentaram margens livres (ML) e onze (47,8%) casos tinham margens comprometidas (MC). A recorrência local (RL) ocorreu em onze (47,8%) pacientes. CONCLUSÃO: O comprometimento da margem cirúrgica foi o único fator de prognóstico encontrado para a RL do TDE. Nível de Evidência IV, Série de Casos.

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ABSTRACT Objective: Extra-abdominal desmoid tumor (EDT) is a rare condition, caused by proliferation of fibroblasts. Despite being a benign tumor, it is locally aggressive and has unpredictable clinical behavior. The objective of this study is to present the clinical outcomes of patients with EDT treated surgically between 1995 and 2016. Methods: This is a retrospective series of 23 patients with histopathological diagnosis of EDT that underwent surgery at the orthopedic oncology service of our hospital. The information was obtained from the institute's clinical and pathology reports. Results: A total of 223 medical records with histopathological reports were evaluated. Only 23 cases of EDT were included in the present study. The mean age was 22.5 years. Twelve (52.2%) patients had the tumor on the lower limbs, seven (30.4%) on the upper limbs and four (17.4%) cases were reported on the back. Five (21.7%) patients had tumors measuring less than 5 cm, while eighteen (78.3%) patients had tumors measuring more than 5 cm. All patients underwent surgery as the definitive treatment in our institute. Twelve (52.2%) cases presented negative margins (NM) and eleven (47.8%) cases had positive margins (PM). Local recurrence (LR) occurred in eleven (47.8%) patients. Conclusion: Impairment of the surgical margin was the only prognostic factor found for LR of EDT. Level of Evidence IV, Case Series.

RESUMO Objetivo: O tumor desmoide extra-abdominal (TDE) é raro, formado por proliferação de fibroblastos. Apesar de ser um tumor benigno, é localmente agressivo e tem comportamento clínico imprevisível. O objetivo desta pesquisa é apresentar os resultados clínicos obtidos nos pacientes com TDE, tratados cirurgicamente entre 1995 e 2016. Métodos: Trata-se de uma série retrospectiva de 23 pacientes com diagnóstico anatomopatológico de TDE, tratados cirurgicamente no serviço de oncologia ortopédica de nosso hospital. A informação foi obtida dos relatos clínicos e patológicos do instituto. Resultados: Um total de 223 prontuários com relato anatomopatológico foi revisado. Apenas 23 casos de TDE foram incluídos no presente estudo. A média de idade foi de 22,5 anos. Doze (52,2%) casos se localizaram nos membros inferiores, sete (30,4%) casos nos membros superiores e quatro (17,4%) casos se localizaram no dorso. Cinco (21,7%) casos tinham tamanho < 5 cm e 18 (78,3%) casos tinham tamanho > 5 cm. Todos os pacientes receberam tratamento cirúrgico como terapia definitiva no instituto. Doze (52,2%) casos apresentaram margens livres (ML) e onze (47,8%) casos tinham margens comprometidas (MC). A recorrência local (RL) ocorreu em onze (47,8%) pacientes. Conclusão: O comprometimento da margem cirúrgica foi o único fator de prognóstico encontrado para a RL do TDE. Nível de Evidência IV, Série de Casos.

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Introducción. El tumor desmoide grado I, es una patología rara, se consideraba la intervención quirúrgica como primera opción, pero su recidiva posquirúrgica tendía a obscurecer la evolución satisfactoria ya que este tipo de tumores tienden a comprometer planos cada vez más profundos, en algunos casos ha provocado la amputación de extremidades sin lograr éxito, generando un grave impacto psicológico en el paciente y su pronóstico. Caso clínico. Paciente masculino, a los 18 años de edad, presentó una masa en el tercio distal del brazo izquierdo, en Italia le realizan exéresis quirúrgica, la misma que reporta positivo para tumor desmoide, presentando varias recidivas años después, estudios histopatológicos reportan recidiva de tumor desmoide. Actualmente se encuentra en seguimiento con controles tomográficos. Discusión. El tumor desmoide carece de potencial metastásico, con un comportamiento local muy agresivo, las técnicas de imagen permiten realizar su diagnóstico diferencial de otros tumores que afectan los tejidos blandos, su diagnóstico definitivo es con biopsia y su estudio histopatológico. Nuestro paciente a los 18 años se le diagnostica de un tumor desmoide a nivel del brazo izquierdo, presentando por varias ocasiones recidivas posterior a varias exéresis de los mismos, cabe recalcar, que este tipo de tumor tiene una elevada tasa de recurrencia incluso después de una resección completa del tumor; por lo que la cirugía no está indicada como tratamiento de primera elección, indica el manejo expectante está indicado con la estrategia O-E (Observar-Esperar), cuando el paciente es referido al HECAM se decide mantener controles expectantes. Como lo recomienda las ultimas guías de tratmiento.

Introduction. Grade I desmoid tumor is an uncommon pathology where treatment was the surgery as first option, but its post-surgical recurrence tends to obscure satisfactory evolution due to these kinds of tumors have to compromise deep layers, and there are cases where patients needed amputation of their arms or legs without any success; therefore, it causes a huge psychological impact in the patients and their prognosis. Clinical case. An eighteen-year old male presented with a mass in the distal portion of the left arm. In Italy, he had a surgical resection, and the sample was positive for a desmoid tumor, presenting several recurrences years later. Histological studies reports recurrence of desmoid tumor. Is currently in follow-up with tomographic controls. Discussion. The desmoid tumor lacks metastatic potential, with a very aggressive local behavior, the imaging techniques allow its differential diagnosis of other tumors that affect the soft tissues, and its definitive diagnosis is with biopsy and its histopathological study. In summary, our eighteen-year old patient's diagnose was a desmoid tumor on his left arm, presenting several recurrences after several exeresis of the same, it should be emphasized that this type of tumor has a high rate of recurrence even after a complete tumor resection. Thus, surgery is not indicated as first-line of treatment, so it´s recommended expectant treatment based on the O-E strategy (Observe-Wait). When the patient was referred to Hospital de Especialidades Carlos Andrade Marin, the doctors decided to continue with observational management. As recommended by the latest treatment guidelines.

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Desmoid tumors develop from connective tissue, fasciae, and aponeuroses, and may occur in the context of familial adenomatous polyposis or may arise sporadically; also, they may be extra-abdominal, intra-abdominal, or located in the abdominal wall. These benign tumors have a great aggressiveness with a high rate of local recurrence. Familial adenomatous polyposis is an inherited condition with autosomal dominant transmission, and is characterized by the development of multiple colonic and rectal adenomatous polyps, as well as desmoid tumors. We present the case of a 54-year-old woman with germline APC gene mutation, who underwent a total colectomy, subsequently developing two large infiltrative solid intra-abdominal lesions consistent with desmoid tumors. Medical treatment with Cox-2 inhibitors was initiated without result. She was submitted to resection for intestinal obstruction, but developed local recurrence. The lesions were also unresponsive to tamoxifen, and chemotherapy was initiated with dacarbazine plus doxorubicin, switching to vinorelbine plus methotrexate, achieving a good response in all lesions after 12 months. The approach to these intra-abdominal lesions should be progressive, beginning with observation, then a medical approach with non-steroidal anti-inflammatory drugs or with an anti-hormonal agent. Afterwards, if progression is still evident, chemotherapy should be started. Surgery should be reserved for resistance to medical treatment, in palliative situations, or for extra-abdominal or abdominal wall desmoids tumors.

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INTRODUÇÃO: As fibromatoses consistem na proliferação de tecido fibroso, na forma de faixas ou nódulos, associadas às fáscias e aponeuroses. Sua variedade agressiva, denominada previamente tumor desmoide, se comporta de forma semelhante a uma neoplasia maligna, com destruição local de tecidos, sem, entretanto, originar metástases. MÉTODOS: Fez-se revisão da literatura de1979 a janeiro de 2017. Dados de três pacientes, operados entre maio de 2010 e agosto de 2015, foram revistos, com proservação até março de 2017. Observaram-se idade, características do implante, via de introdução do mesmo, tempo decorrido entre o implante e o aparecimento da fibromatose, tratamento cirúrgico instituído, acompanhamento clínico e resultados. RESULTADOS: Foram encontrados 24 trabalhos na literatura disponível, versando sobre fibromatose agressiva da parede torácica associada ao implante mamário de silicone, nos quais foram relatados 34 casos. São apresentados três casos de fibromatose agressiva associados ao implante mamário de silicone. Os casos foram tratados com sucesso por ressecção alargada da parede torácica, incluindo pele, musculatura, costelas, fáscia endotorácica e pleura parietal. A reconstrução foi bem-sucedida, realizada com tela aloplástica (Prolene & reg;) recoberta por retalho muscular em dois casos e retalho cutâneo local em um caso. CONCLUSÃO: A associação de fibromatose agressiva e implante mamário é rara. O tratamento deve consistir em cirurgia alargada, removendo-se o implante e toda a área da cápsula adjacente, em conjunto com parte da mama, costelas subjacentes, musculatura intercostal, fáscia endotorácica e pleura parietal. A reconstrução deve ser feita com tela aloplástica associada a retalho muscular ou retalho tegumentar local.

INTRODUCTION: Fibromatoses consists of the proliferation of fibrous tissue, in the form of bands or nodules, associated with fasciae and aponeuroses. The aggressive variety, previously denominated desmoid tumor, behaves similarly to malignant neoplasm, with local destruction of tissues, without, however, producing metastases. METHODS: A literature review was carried out from 1979 to January 2017. Data from three patients, operated between May 2010 and August 2015, were reviewed. Age, implant characteristics, route of introduction, time elapsed between implantation and fibromatosis, surgical treatment, clinical follow-up and results were observed. RESULTS: Twenty-four papers were found in the literature reporting aggressive fibromatosis of the chest wall associated with silicone breast implant. In these studies, 34 cases were reported. Three new cases of aggressive fibromatosis associated with silicone breast implant are now presented. These cases were successfully treated by extensive resection of the chest wall, including skin, musculature, ribs, endothoracic fascia, and parietal pleura. The reconstruction was successful, performed with alloplastic mesh (Prolene & reg;) covered by muscular flap in two cases and local skin flap in one case. CONCLUSION: The association of aggressive fibromatosis and breast implant is rare. The treatment should consist of extensive surgery, removing the breast implant and the entire area of the capsule around it, part of breast, together with the underlying ribs, intercostal muscles, endothoracic fascia and parietal pleura. The reconstruction should be made with an alloplastic mesh, covered by muscular flaps or local skin flap.

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ABSTRACT Introduction: Desmoid tumors are the main extraintestinal manifestation of FAP, presenting high morbidity and mortality. It is a neoplasia without metastasis capacity, but with infiltrative growth and with a high rate of recurrence. In familial forms, these tumors are associated with a germinal mutation in the APC gene, with a genotype-phenotype correlation influenced by other risk factors. Materials and methods: A review of articles published since the year 2000 in Portuguese, English or Spanish on desmoid tumors in patients with FAP was carried out. A total of 49 publications were included. Results: The site of the mutation in the APC gene is related to the severity of FAP and to the frequency of desmoid tumor. Mutations located distally to codon 1309 are associated with a more attenuated polyposis, but with higher frequency of desmoid tumors. Clinically, these tumors may or may not be symptomatic, depending on their size and location. In their treatment, priority should be given to medical therapy, especially in intra-abdominal tumors, with surgery being the last option if there are no other complications. Discussion: These tumors are associated with certain risk factors: genetic (mutation site), hormonal (estrogenic environment) and physical (surgical trauma) ones. In young women, a later prophylactic colectomy is suggested. Moreover, the laparoscopic approach to prophylactic surgery seems to be an option that reduces surgical trauma and consequently the appearance of desmoid tumors. Conclusion: The step-up medical approach has been shown to be valid in the treatment of intra-abdominal desmoid tumors, and medical treatment should be the first therapeutic option.

RESUMO Introdução: Os tumores desmóides são a principal manifestação extraintestinal da PAF, apresentando elevada morbimortalidade. É uma neoplasia sem capacidade de metastização, mas com crescimento infiltrativo e com alta taxa de recorrência. Nas formas familiares associa-se a uma mutação germinativa no gene APC, havendo uma correlação genótipo-fenótipo influenciada por outros fatores de risco. Materiais e métodos: Foi efetuada uma revisão de artigos publicados desde o ano 2000, em português, inglês ou espanhol, acerca de tumores desmóides em doentes com PAF. Foram incluídas, no total, 49 publicações. Resultados: O local da mutação no gene APC relaciona-se com a gravidade da PAF e frequência de tumor desmóide. Mutações localizadas distalmente ao codão 1309 associam-se a uma polipose mais atenuada, mas a maior frequência de tumor desmóide. Clinicamente podem ser, ou não, sintomáticos, dependendo do seu tamanho e localização. No seu tratamento deve ser dada prioridade à terapêutica médica, sobretudo nos tumores intra-abdominais, colocando a cirurgia como última opção, caso não hajam outras complicações. Discussão: Estes tumores associam-se a determinados fatores de risco: genéticos (local da mutação), hormonais (ambiente estrogénico) e físicos (trauma cirúrgico). Nas mulheres jovens sugere-se a realização de colectomia profilática mais tardiamente. Além disso, a abordagem laparoscópica para a cirurgia profilática parece ser uma opção que diminui o trauma cirúrgico e consequentemente o aparecimento de tumores desmóides. Conclusão: A abordagem médica em step-up mostrou ser válida no tratamento de tumores desmóides intra-abdominais, devendo o tratamento médico ser a primeira opção terapêutica.

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OBJECTIVE: To evaluate the rate of local recurrence of extra-abdominal desmoid tumor and compare the outcomes of surgical treatment and conservative treatment. METHODS: Twenty one patients (14 women and seven men), mean age 33.0±8.7 years old, with a diagnosis of desmoid tumor were evaluated. The mean follow-up period was 58.5±29.0 months. Fourteen cases involved the lower limbs, four cases involved the upper limbs, and three cases involved the trunk. The average tumor size was 12.7±7.5 cm. Of the 21 patients, 14 did not undergo previous treatment and seven patients relapsed before the initial evaluation. Surgical treatment was performed in 16 patients and conservative treatment was performed in five patients. RESULTS: Recurrence occurred in seven patients (33%) and six of them relapsed within the first 18 months. No significant difference was observed between conservative and surgical treatment. However, a significant difference was observed among patients undergoing wide resection and who experienced improved local control. CONCLUSION: The recurrence rate of desmoid tumor was 33.3%. There was no difference in recurrence between conservative and surgical treatment. In surgical treatment, wide margins showed better results for recurrence control. Level of Evidence III. Retrospective Observational Study

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OBJECTIVE: To evaluate the rate of local recurrence of extra-abdominal desmoid tumor and compare the outcomes of surgical treatment and conservative treatment. METHODS: Twenty one patients (14 women and seven men), mean age 33.0±8.7 years old, with a diagnosis of desmoid tumor were evaluated. The mean follow-up period was 58.5±29.0 months. Fourteen cases involved the lower limbs, four cases involved the upper limbs, and three cases involved the trunk. The average tumor size was 12.7±7.5 cm. Of the 21 patients, 14 did not undergo previous treatment and seven patients relapsed before the initial evaluation. Surgical treatment was performed in 16 patients and conservative treatment was performed in five patients. RESULTS: Recurrence occurred in seven patients (33%) and six of them relapsed within the first 18 months. No significant difference was observed between conservative and surgical treatment. However, a significant difference was observed among patients undergoing wide resection and who experienced improved local control. CONCLUSION: The recurrence rate of desmoid tumor was 33.3%. There was no difference in recurrence between conservative and surgical treatment. In surgical treatment, wide margins showed better results for recurrence control. Level of Evidence III. Retrospective Observational Study.

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Na era das cirurgias minimamente invasivas, parece controverso advogar grandes operações. Entretanto, ainda há espaço para grandes intervenções oncológicas. É relatado caso de paciente de 23 anos de idade portador de tumor desmoide em hemitórax direito, com deformidade e erosão de arcos costais, atelectasia parcial do pulmão ipsilateral, compressão e desvio contralateral do mediastino, invasão de nervos do plexo braquial, vasos subclávios e pleura apical direita. Realizada toracectomia, ressecção de tumor em mediastino, amputação do membro superior direito, escapulectomia e reconstrução da parede torácica com tela de márlex e metilmetacrilato e confecção de retalho fasciocutâneo. O paciente encontra-se em seguimento ambulatorial com suas funções diárias quase recuperadas, limitado apenas nas atividades que envolviam o membro desarticulado. Em casos selecionados devem ser consideras grandes intervenções com o objetivo de ressecção R0 (ressecção com margens cirúrgicas livres) e melhora na qualidade de vida, atentando-se sempre para a ressocialização.

In the era of minimally invasive surgery, advocating large operations seems controversial. However, there is still room for major oncologic interventions. This is report of a 23 yearold patient with desmoid tumor in the right hemithorax, deformed and eroded ribs, ipsilateral lung partial atelectasis, contralateral mediastinal compression and shift, invasion ofnerves in the brachial plexus, subclavian vessels and right apical pleura. Thoracectomy was performed with resection of the tumor in the mediastinum, right upper limb amputation, scapulectomy, and chest wall reconstruction with methylmethacrylate and marlex screen, and use of a fasciocutaneous flap. The subject is in follow up as an outpatient andhas almost recovered his daily functions, which are now limited only for activities involving the inarticulate member. Selected cases should be considered for major interventions with aiming at R0 resection (resection with free surgical margins) and improved quality of life, always bearing in mind the need for rehabilitation and socialization.

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O tumor desmoide é uma neoplasia não capsulada, localmente agressiva, originária dos fibroblastos dos tecidos músculo-aponeuróticos. Embora ele não tenha comportamento maligno, tal como capacidade de gerar metástases ou de invasão, o tumor desmoide tem uma alta capacidade de crescimento local, causando deformidades nos órgãos adjacentes, dor e, eventualmente, disfunção orgânica, dependendo da área envolvida. Relatamos o caso de um tumor desmoide intra-abdominal de grandes proporções, invadindo órgãos pélvicos em uma paciente de 53 anos. A neoplasia foi totalmente extirpada e, atualmente, cinco anos após a cirurgia, a paciente encontra-se sem sinal clínico ou radiológico de recidiva da lesão.

Desmoid tumor is a noncapsulated neoplasia, locally aggressive, originated from the fibroblasts of the musculo-aponeurotic tissues. Even though with no malignant behavior, such as the ability of generating metastasis or of invasion, the desmoid tumor has a high tendency for local growth, causing deformities in the adjacent organs, pain and sometimes organ dysfunction, depending on the area involved. We report the case of a large intra-abdominal desmoid tumor, invading pelvic organs in a 53 year-old patient. The neoplasia has been totally extirpated and, at the moment, five years after the surgery, the patient presents no clinical or radiologic sign of lesion relapse.

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Esse artigo relata a experiência de um caso de tumor desmóide, uma neoplasia rara, no Hospital da Baleia. O objetivo deste trabalho é expor sua definição mais freqüente e suas várias e complexas formas de tratamento (medicamentosa, radioterápica e cirúrgica) com suas indicações precisas.

This article reports a case experience of the dismoid tumor, a rare tumor, in the Hospital da Baleia. The objetive of this paper is explain its definition and clinical findings, tumor's localization and many forms of treatment (drugs, radioterapy and surgery) with correct indication.

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