ABSTRACT
Resumen Se realizó una revisión bibliográfica de los tumores desmoides, lo cuales afectan los tejidos blandos con un comportamiento localmente agresivo sin capacidad de producir metástasis. Los casos esporádicos se localizan en extremidades y pared torácica; los casos hereditarios tienen predilección intraabdominal y los asociados con el embarazo en la pared abdominal. Las técnicas de imagen evalúan la extensión de la enfermedad. La biopsia con aguja trucut es el estudio de elección para el diagnóstico. Las mutaciones en el gen CTNNB1 o en el gen de APC provocan acumulación anormal de betacatenina en la célula. En esta revisión se hace énfasis en la evolución y cambio de las estrategias terapéuticas y se analizan las actuales herramientas para la toma de decisiones, así como los resultados clínicos. La radioterapia puede tener un papel terapéutico o adyuvante. Los avances en la comprensión de la enfermedad han permitido establecer tratamientos mejor dirigidos y con menor morbilidad; sin embargo, aún existen interrogantes en cuanto a la elección del candidato ideal para la vigilancia o el tratamiento precoz. También se presentan datos relacionados con la calidad de vida y la incertidumbre que genera el diagnóstico en el médico y el paciente.
Abstract A literature review on desmoid tumors was carried out, which are tumors that affect soft tissues with a locally aggressive behavior and are unable to metastasize. Sporadic cases are located on the extremities and chest wall; hereditary cases have an intra-abdominal predilection, and those associated with pregnancy occur on the abdominal wall. Imaging techniques assess disease extension. Trucut biopsy is the study of choice for diagnosis. Mutations in the CTNNB1 or APC genes cause an abnormal accumulation of b-catenin within the cell. In this review, an emphasis is made on therapeutic strategies evolution and change, and current tools for decision making are analyzed, as well as clinical outcomes. Radiation therapy can play a therapeutic or adjuvant role. Advances in the understanding of the disease have allowed establishing better targeted treatments with lower morbidity; however, there are still unanswered questions regarding the choice of the ideal candidate for surveillance and/or early treatment. Data related to quality of life are also presented, as well as the uncertainty generated by this diagnosis for both doctor and patient.
Subject(s)
Humans , Male , Female , Fibromatosis, Aggressive/diagnosis , Fibromatosis, Aggressive/therapy , Quality of Life , Radiotherapy , Biopsy/methods , Fibromatosis, Aggressive/pathology , Uncertainty , beta Catenin/metabolism , Clinical Decision-Making , Anti-Inflammatory Agents/therapeutic use , Antineoplastic Agents/therapeutic useABSTRACT
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.
Subject(s)
Humans , Female , Middle Aged , Neoplastic Syndromes, Hereditary/therapy , Treatment Outcome , Fibromatosis, Aggressive/therapy , Adenomatous Polyposis ColiABSTRACT
Introdução: Esta revisão tem por finalidade identificar pontos importantes de um tipo de neoplasia benigna pouco comum, o tumor desmoide, e as opções terapêuticas atuais. Métodos: O estudo de revisões científicas e relatos de casos sobre o tema montam a base deste artigo e oferecem uma boa compilação dos conhecimentos contemporâneos a fim de chamar atenção para um assunto pouco frequente nos meios acadêmicos. Resultados: Apesar de serem benignos à histologia e não metastatizar, os tumores desmoides têm comportamento invasivo, cursando com destruição de estruturas e órgãos adjacentes. A sobrevida geral dos pacientes em 10 anos é próximo de 63% com 4 a 6% dos tumores regredindo espontaneamente. As causas de morte são consequências de destruição de vasos sanguíneos, sepse por fístula entérica e complicações secundárias ao próprio tratamento cirúrgico. Conclusão: O uso de exames de imagem auxilia a correta indicação da modalidade de tratamento, podendo-se optar por tratamento farmacológico, como por exemplo quando o tumor demonstra crescimento lento, ou tratamento cirúrgico, principalmente indicado para prevenir ou tratar disfunções orgânicas nos casos avançados.
Introduction: This review aims to identify important points of a type of uncommon benign tumor the desmoid tumor and current therapeutic options. Methods: The study of scientific reviews and cases reports of the subject form the basis of this article and offer a good compilation of contemporary knowledge in order to draw attention to an infrequent subject in academic circles. Results: Despite being benign to histology and not metastatic, desmoid tumors have an invasive behavior, leading to the destruction of adjacent structures and organs. Overall patient survival at 10 years is close to 63% with 4-6% of tumors regressing spontaneously. The causes of death are consequences of destruction of blood vessels, sepsis by enteric fistula and complications secondary to the surgical treatment itself. Conclusion: The use of imaging tests assists in the correct indication of the treatment modality, and pharmacological treatment can be chosen, such as when the tumor shows slow growth, or surgical treatment, mainly indicated to prevent or treat organ dysfunctions in advanced cases.
Subject(s)
Fibromatosis, Aggressive/diagnosis , Fibromatosis, Aggressive/therapyABSTRACT
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.
Subject(s)
Humans , Adult , History, 21st Century , Mammaplasty , Fibromatosis, Aggressive , Breast Implantation , Plastic Surgery Procedures , Fibroma , Mammaplasty/methods , Fibromatosis, Aggressive/surgery , Fibromatosis, Aggressive/therapy , Breast Implantation/adverse effects , Breast Implantation/methods , Breast Implantation/rehabilitation , Plastic Surgery Procedures/methods , Fibroma/surgeryABSTRACT
Se conoce como fibromatosis desmoide a la proliferación fibroblástica clonal que surge de partes blandas y se caracteriza por un crecimiento infiltrativo, localmente invasivo y con tendencia a la recurrencia local, pero con baja capacidad de metastatizar. Es un patología infrecuente en la edad padiatrica, sobre todo en la localización de cabeza y cuello. su tratamiento esta en discusión entre la cirugía radical, la conducta expectante y la radio o quimioterapia. Se presenta el caso clínico de un varón de 4 años de edad con diagnostico de fibromatosis desmoide laterocervical de cuello, adyacente a paquete vascular yugulocarotideo, en el cual se practico con éxito la resección total.
Desmoid fibromatosis is a fibroblastic monoclonal proliferation of soft tissues, and is characterized by an infiltrative growth, locally invasive and with tendency to local recurrence, but with a low metastatic capacity . It is an uncommon condition in pediatric patients, especially in head and neck locations. The treatment is under discussion between radical surgery, expectant management and radio or chemotherapy. We report the clinical case of a 4 years old male with a diagnosis of laterocervical desmoid fibromatosis of the neck, adjacent to a vascular jugulocarotide package, in which the total resection was successfully performed.
Subject(s)
Humans , Male , Child, Preschool , Radiotherapy , Fibromatosis, Aggressive/surgery , Fibromatosis, Aggressive/therapy , Drug Therapy , Margins of Excision , Head and Neck Neoplasms/pathologyABSTRACT
Pelvic recurrence after resection of rectal adenocarcinoma is a feared complication and is associated with a worse prognosis and low resectability rates. The differential diagnosis is difficult, as biopsy is seldom performed preoperatively. We report two cases of desmoid pelvic tumor after resection of rectal adenocarcinoma. Therapeutic options and literature review are described.
O aparecimento de tumor pélvico após ressecção de adenocarcinoma de reto é complicação temida e está associado à pior prognóstico e baixos índices de ressecabilidade. O diagnóstico diferencial é difícil, pois o diagnóstico histológico usualmente não é realizado no pré-operatório. São relatados dois casos em que houve o aparecimento de tumor pélvico após a ressecção de adenocarcinoma de reto, com diagnóstico histológico de tumor desmóide. As condutas adotadas e revisão da literatura são descritas.
Subject(s)
Humans , Female , Middle Aged , Aged , Rectal Neoplasms , Adenocarcinoma , Pelvic Neoplasms/diagnostic imaging , Recurrence , Fibromatosis, Aggressive/pathology , Fibromatosis, Aggressive/therapy , Diagnosis, DifferentialABSTRACT
La fibromatosis agresiva es una lesión benigna, que comprende el 0,3% de todos los tumores sólidos. A pesar que la pared torácica es un lugar común, este tipo de tumor raramente se ha asociado con los implantes o tejido mamarios. Pocos casos se han descrito en conjunción con un implante de seno. Se presenta el caso de una paciente femenina de 27 años, quien le aparece esta patología dos años después de la colocación de implante mamario
The aggressive fibromatoses is a benign lesion, is not frequent, represent the 0.3% of the all solid tumors. The chest wall was considered a common place for tumors, but this type is rarely associated with the mammary implants. There are few cases reported in conjunction with a mammary implant. We presented a rare clinical case of a feminine patient of 27 years old, to whom apparition of this pathology two years after the collocation of mammary implant
Subject(s)
Female , Fibromatosis, Aggressive/diagnosis , Breast Implants/adverse effects , Thoracic Wall/abnormalities , Prostheses and Implants , Fibromatosis, Aggressive/radiotherapy , Fibromatosis, Aggressive/therapy , Medical OncologyABSTRACT
Identificar el cuadro clínico, la recurrencia y sobrevida quinquenal por tumor desmoide. Material y Métodos: Analizamos 18 pacientes manejados en el Hospital Belén, Trujillo, Perú, desde 1966 a 1994. Resultados: Los antecedentes más frecuentes fueron embarazo reciente (n=8), cirugía previa (n=3) y traumatismo (n=1). La edad promedio fue de 29.5 (16.7 años (rango, 5 meses a 75 años). El 50 por ciento de los casos se presentó en la tercera década de la vida. Hubo 6 hombres y 12 mujeres (H:M, 1:2). El síntoma y signo más común fue tumor (100 por ciento), acompañado por dolor (66.7 por ciento), impotencia funcional (22.2 por ciento) y parestesias (16.7 por ciento). El diámetro tumoral promedio fue 10.9 (5.6 cm). Las neoplasias se localizaron en pared abdominal (n=12), cabez - cuello (n=3) y miembros inferiores (n=3). El tratamiento más utilizado fue el quirúrgico (n=14), y la radioterapia se utilizó en 2 casos irresecables. En los 10 pacientes que tuvo seguimiento completo la tasa de recurrencia quinquenal fue de 33.3 por ciento, siendo ésta menor con el tratamiento quirúrgico (25 por ciento) que con el radioterápico (50 por ciento). Además, hubo menor recurrencia con la cirugía amplia y radical (16.7 por ciento) en comparación con la resección local simple (50 por ciento). La sobrevida quinquenal en la serie total fue de 87.5 por ciento, siendo ésta menor con el tratamiento quirúrgico (83.3 por ciento) que con el radioterápico (100 por ciento). Conclusiones: La localización más frecuente de estos tumores estuvo en la pared abdominal. El tratamiento quirúrgico con un margen amplio de resección ofrece un mejor control local de los tumores desmoides.