Tumores desmoides: consideraciones diagnóstico-terapéuticas / Desmoid tumors: diagnostic and therapeutic considerations

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.

Genetic profile, risk factors and therapeutic approach of desmoid tumors in familial adenomatous polyposis / Perfil genético, fatores de risco e abordagem terapêutica dos tumores desmóides na Polipose Adenomatosa Familiar

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.

Unusual finding after resection of rectal adenocarcinoma: report of two cases / Achado incomum após ressecção de adenocarcinoma do reto: relato de dois casos

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.

Desmoid tumor in patients with familial adenomatous polyposis / Tumor desmóide em pacientes com polipose adenomatosa familiar

CONTEXT: Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. OBJECTIVES: To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to present patient outcome. METHODS: Between 1984 and 2008, 68 patients underwent colectomy for familial adenomatous polyposis at the School of Medical Sciences Teaching Hospital, University of Campinas, SP, Brazil. Desmoid tumors were found in nine (13.2 percent) of these patients, who were studied retrospectively by consulting their medical charts with respect to clinical and surgical data. RESULTS: Of nine patients, seven (77.8 percent) were submitted to laparotomy for tumor resection. Median age at the time of surgery was 33.9 years (range 22-51 years). Desmoid tumors were found in the abdominal wall in 3/9 cases (33.3 percent) and in an intra-abdominal site in the remaining six cases (66.7 percent). Median time elapsed between ileal pouch-anal anastomosis and diagnosis of desmoid tumor was 37.5 months (range 14-60 months), while the median time between colectomy with ileorectal anastomosis and diagnosis was 63.7 months (range 25-116 months). In 6/9 (66.7 percent) patients with desmoid tumors, the disease was either under control or there was no evidence of tumor recurrence at a follow-up visit made a mean of 63.1 months later (range 12-240 months). CONCLUSIONS: Desmoid tumors were found in 13.2 percent of cases of familial adenomatous polyposis following colectomy; therefore, familial adenomatous polyposis patients should be followed-up and surveillance should include abdominal examination to detect signs and symptoms. Treatment options include surgery and clinical management with antiestrogens, antiinflammatory drugs or chemotherapy.

CONTEXTO: Os tumores desmóides representam uma das manifestações extraintestinais mais importantes na síndrome da polipose adenomatosa familiar. O aparecimento desta neoplasia está relacionada ao aumento da morbimortalidade nos doentes com polipose adenomatosa familiar. OBJETIVOS: Avaliar a ocorrência dos tumores desmóides nos casos de polipose adenomatosa familiar submetidos a colectomia profilática e avaliar o seguimento em ambulatório. MÉTODOS: Entre 1984 e 2008, 68 pacientes foram submetidos a colectomia por polipose adenomatosa familiar no Hospital das Clínicas da Faculdade de Ciências Médicas da Universidade de Campinas, SP. Os tumores desmóides ocorreram em nove pacientes (13.2 por cento), que foram estudados retrospectivamente, por meio da análise de prontuários, buscando dados clínicos e cirúrgicos. RESULTADOS: Dos nove pacientes, sete (77,8 por cento) foram submetidos a laparotomia para ressecção do tumor. A média de idade no momento da cirurgia foi de 33,9 anos (variando 22-51 anos). Os tumores desmóides da parede abdominal ocorreram em 3/9 casos (33.3 por cento) e os intra-abdominais em seis casos (66,7 por cento). O tempo médio entre a cirurgia do reservatório ileal e o diagnóstico do tumor desmóide foi de 37,5 meses (variando 14-60 meses), enquanto o tempo médio entre a cirurgia de colectomia com anastomose íleorretal e o diagnóstico foi de 63,7 meses (variando 25-116 meses). Em 6/9 (66,7 por cento) pacientes com tumor desmóide, a doença estava controlada ou não havia evidência de recidiva do tumor em 63,1 meses (variando de 12 a 240 meses) de tempo médio de seguimento. CONCLUSÃO: Os tumores desmóides ocorreram em 13,2 por cento dos casos de polipose adenomatosa familiar após a cirurgia do cólon; desta maneira, os pacientes com polipose adenomatosa familiar devem manter seguimento em ambulatório e o rastreamento deve incluir o exame abdominal minucioso a fim de identificar sinais e sintomas que possam conduzir ao diagnóstico de tumor desmóide. As opções de tratamento incluem cirurgia e manejo clínico com antiestrogênios, anti-inflamatórios ou quimioterapia.

Aggressive fibromatosis versus low grade fibrosarcoma - a diagnostic dilemma

The fibromatosis are a group of lesions that can infiltrate widely, replacing muscle, fat and bone with fibrous tissue of varying cellularity. They do not develop distant metastases, however, locally they show an aggressive and infiltrative behaviour. The major challenge in the diagnosis lies in not over or under diagnose of fibrosarcoma and an underdiagnosis of reactive fibrosis. But this histologic differentiation is necessary owing to different treatment strategies

Tumor desmoide abdômino-pélvico / Abdominopelvic desmoid tumor

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.

Tumor desmoide: reporte de un caso / Desmoide tumor: case report

El tumor desmoide es una neoplasia rara de tejidos blandos que se desarrolla a partir de músculo, tejido conectivo, fascia y aponeurois. Se presenta esporádicamente y más frecuentemente en mujeres. El caso que se presenta concierne a paciente femenina de 27 años que fue sometida a escisión radical de una gran masa que infiltraba músculo recto abdominal, diagnosticada como tumor desmoide. Aunque tiene características benignas, es de naturaleza infiltrativa y se comporta como una masa localmente agresiva, la cual puede invadir estructuras adyacentes haciendo que la resección quirúrgica sea difícil. El único tratamiento viable es la cirugía amplia dejando bordes sanos, esto causa gran defecto de pared y por tanto serios problemas en la reconstrucción. Además, la tasa de recurrencias locales varía y depende de la edad del paciente, localización y los márgenes de resección.

Desmoid tumor is quite rare soft tissues neoplasm that develops from muscle connective tissue, fasciae and aponeuroses. This neoplasm occurs in sporadic and more frequent in women than men. The presented case report refers to young female (27 years old), who underwent the radical excision of a large desmoid tumour infiltrating the right rectus muscle of the abdomen. Although desmoid is classified pathologically as a benign tumour, its infiltrative nature leads to a locally aggressive mass, which can invade surrounding structures and organs making surgical resection difficult. The only radical treatment for her was the surgical resection carried out far from the tumour borders into the healthy tissues. This resection causes wide muscle-fascial defects determining serious reconstructive problems. Futhermore, overall local recurrence rates vary and depend on patient’s age, tumour location and margins at resection.

[Abdominal desmoid tumor pathologic and therapeutic concepts]

Abdominal desmoid tumors arise in young adults between 20 and 40 years. They are character/i2ed by a local recurrence in 20 to 30% of eases. Review the clinical and pathologic features of this entity, look for the expression of immunohistochemical markers [actine, desmine, CD34, vimentin] and also to estimate the expression of two potential targets therapy; the hormonal receptors and the CD117. From 1990 to 2004, three cases of abdominal desmoid tumors were diagnosed in the Pathologic laboratory of the Charles Nicole Hospital of Tunis. The study concerned three women 62, 35 and 30 year-old. All the patients were operated and the site of tumours varied to 5 to 7cm. The CD117 and the hormonal receptors were negative in every case. None of the patients presented local recurrence. Abdominal desmoid tumors are locally aggressive but never give metastasis. The negativity of these lesions to the CD117 and in the hormonal receptors does not imply resistance in the hormonal treatment by anti-estrogens

Infantile fibromatosis (desmoid type)--a case report.

Infantile fibromatosis represents the childhood counter part of musculoaponeurotic fibromatosis & arises as a solitary mass in skeletal muscle, adjacent fascia, aponeurosis or periosteum. The lesion is extremely rare. Microscopically it exists in two forms diffuse (mesenchymal) & desmoid. The less common desmoid form rarely occurs in infancy. Immunophenotype shows vimentin positivity with variable positivity with muscle markers. The differential diagnosis of this type is infantile fibrosarcoma. The tumor may locally recur if inadequately excised. We report a case of infantile fibromatosis of desmoid type occurring in 10 months male child for its extreme rarity.

Desmoid fibromatosis; Problems in diagnosis and management: reappraisal

Twenty-nine patients with desmoid tumors were identified. Estrogen receptor assays were studied by the immunocytochemical method using monoclonal antibodies to human ER and highly sensitive streptavidin immunoperoxidase kit in ten patients. The clinical follow up was available for all patients with a range of 1-9 years. The duration of the follow up was less than one year from the time of resection in three patients. All lesions were treated initially with a surgical excision. Those patients who received adjuvant radiotherapy were treated with cobalt-60 units or a 4 MeV linear accelerator to 5-6 Gy. One patient received brachytherapy at the tumor site to 6 Gy. Another patient was treated with tamoxifen and non-steroidal anti-inflammatory drugs after surgical resection. Pathology reports were reviewed in an attempt to evaluate the effect of histologic margins on subsequent tumor recurrences

Fibromatosis musculoaponeurótica de la mama / Muscularaponeurotic fibromatosis of the breast

Se presenta un caso clínico de fibromatosis musculoaponeurótica de la mama en una mujer de 33 años, sin antecedentes de cirugía mamaria previa. Se analizan las características morfológicas y el diagnóstico diferencial con un cáncer mamario. Se presenta una revisión bibliográfica y se comenta el tratamiento de elección

Fibromatosis infantil agresiva (fibromatosis cervico-facial de la infancia) / Agressive infantile fibromatosis (cervicofacial infantile fibromatosis)

El propósito de esta comunicación fue traer a estas XLIX Jornadas Rioplatenses, una observación sobre un caso clínico de "Fibromatosis infantil agresiva" cervico-facial, en un niño de 4 años de edad que nos consultó en 1977, que se ha resuelto hasta el momento (1986), mediante la resección quirúrgica amplia que involucró la lesión, la hemi-mandibula y amplio margen de tejidos vecinos sanos. El citado tratamiento fue realizado hace ya 18 años, hallandose el paciente en el momento actual libre de lesion

Tumor desmóide após tratamento radioterápico e cirúrgico de adenocarcinoma de endométrio / Desmoid tumor after radiotherapy and surgery treatment of endometrial adenocarcinoma

A rare case of desmoid tumor is presented, occurred in a abdominal scar, one year and six months after radiotherapy and surgery treatment for the endometial adenocarcinoma. It was treated by ressection of the tumor. After six months, the patient had no sign of recurrence