Desmoid-type fibromatosis of the mesentery: a clinicopatho-logical and genetic analysis of 9 cases / 浙江大学学报·医学版

Nine cases of mesenteric desmoid-type fibromatosis were diagnosed and treated in Taizhou Hospital, Wenzhou Medical University between January 2010 and May 2022, including 2 females and 7 males, aged 16 to 59 years. The lesions were in the mesentery of small intestine with 7 cases, ileocecal junction with 1 cases and transverse colon with 1 case. The tumors had an unclear boundary and no envelope, the section was solid, gray and tough. The mean maximum diameter was (10.7±8.5) cm (range 3.5-33.0 cm). Microscopically, fusiform fibroblasts and myofibroblasts were parallel, bunched or staggered, buried in a large amount of extracellular collagen. The cell morphology was relatively consistent, without obvious atypia, and mitosis was rare. Immunohistochemistry showed that the tumor cells were positive for vimentin (9/9), β-catenin (9/9), while smooth muscle actin (5/9) stains were focally positive. Ki-67 proliferation index was 1%-10%. Cytokeratin Pan, S-100, STAT6, CD117, DOG1, CD34, desmin and anaplastic lymphoma kinase stains were negative. Genetic analysis showed that there were 7 cases of c.121G>A(p.Thr41Ala) mutation of CTNNB1 gene, 1 case of c.121G>A(p.Thr41Ala) and 1 case of c.134C>T(p.Ser45Phe) double mutation, and 1 case of wild type. Tumors were surgically resected in all 9 cases. Eight cases had no recurrence or metastasis, 1 case had recurrence 6 months later, and no recurrence or metastasis after additional surgical resection.

Identification and inner relation between gastrointestinal stromal tumor and intra-abdominal desmoid tumor / 中华胃肠外科杂志

Intra-abdominal desmoid tumor (IADT) and gastrointestinal stromal tumor (GIST) are both mesenchymal tumors mostly found in gastrointestinal tracts and easily misdiagnosed, which would directly damage the survival prognosis and quality of life of patients. With the advent of the era of precision medicine, the understanding of the above two diseases is more in-depth, and the requirements for accurate diagnosis and individualized precision treatment are more stringent. Moreover, there seems to be some internal relationship between IADT and GIST, and the lack of systematic research and discussion makes clinical decision-making and patient management easy to fall into traps and misunderstandings. Therefore, this paper reviews the clinical characteristics, pathogenesis and treatments of the two, and explore their differences and internal relations, so as to provide research and practical reference for promoting more precise and individualized diagnosis and treatment regimens.

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.

Fibromatosis tipo desmoide de apéndice cecal: reporte de caso inusual y revisión de la literatura / Appendicular desmoid tumor: unusual case and review of the literature

RESUMEN Antecedente : La fibromatosis tipo desmoide es un proceso neoplásico benigno no encapsulado localmente invasivo y agresivo, que se origina de la proliferación de fibroblastos y miofibroblastos aparentemente normales. La localización más frecuente de la fibromatosis es extra-abdominal (60%), pared abdominal (25%) e intra-abdominal (8-15%), en raras ocasiones puede originarse en las vísceras (0,73%), como el páncreas, unión gastroesofágica, diafragma y apéndice. La incidencia anual de tumor desmoide se estima de 2 a 5 casos por millón. En el presente artículo, reportamos un caso de presentación inusual, originado en el apéndice cecal. Caso : Paciente de sexo femenino de 41 años con dolor pélvico agudo, que ingresa a sala de operaciones con diagnóstico clínico y ecográfico de probable tumor de ovario a pedículo torcido. En el intraoperatorio se evidenció una tumoración sólida de 15 cm de diámetro que dependía del apéndice cecal, correspondiendo el estudio anatomopatológico a tumor desmoide de apéndice cecal. Conclusiones : El tumor desmoide puede originarse en diversas localizaciones extra e intra-abdominales, siendo esta última la más rara y agresiva. El diagnóstico preoperatorio exacto es muy difícil y casi siempre los pacientes ingresan al quirófano con sospecha diagnostica de tumoración intraabdominal de etiología desconocida. Los factores de riesgos asociados a su aparición aún no se encuentran caracterizados, siendo la resección quirúrgica completa del tumor -con márgenes quirúrgicos libres (R0)- el tratamiento de elección; sin embargo, el riesgo de recurrencia es alto incluso con la remoción óptima del tumor.

ABSTRACT Background : Desmoid type fibromatosis is a benign neoplastic process non-encapsulated locally invasive and aggressive, which arises from a proliferation of bland-looking fibroblasts and myofibroblasts. The most frequent location of fibromatosis is extra- abdominal (60%), abdominal wall (25%) and intra-abdominal (8-15%), rarely can originate in the viscera (0.73%), such as the pancreas, gastroesophageal junction, diaphragm and appendix. The annual incidence of desmoid tumor is estimated at 2 to 5 cases per million. In this article, we report a case of unusual presentation, originated in the cecal appendix. Case : A 41-year-old female patient with acute pelvic pain, admitted to surgical ward with a clinical and ultrasound diagnosis of probably ovarian pedicle tumor. An explorative laparotomy revealed a solid mass of 15 cm in diameter arising from the cecal appendix, with the anatomopathological study corresponding to a desmoid tumor of the cecal appendix. Conclusions : The desmoid tumor can arise from several extra and intra-abdominal locations, the latter being the rarest and most aggressive. Accurate preoperative diagnosis is very difficult and almost always patients enter to surgery with suspected diagnosis of intraabdominal tumor of unknown etiology. The risk factors associated to its appearance are not yet characterized. The complete surgical resection of the tumor -with free surgical margins (R0)- is the treatment of choice; however, the risk of recurrence is high even with optimal tumor removal.

Mesenteric desmoid tumor after Roux-en-Y gastric bypass: a case report

We report the case of a 37-year-old woman investigated for left flank pain 1 year after bariatric surgery (Roux-en-Y gastric bypass). Abdominal computed tomography (CT) revealed a solid intra-abdominal lesion measuring 9.3 × 9.4 × 10.4 cm, compressing adjacent structures with no signs of invasion. Ileocolectomy with partial mesenteric resection was performed. A histopathological and immunohistochemical analysis confirmed the diagnosis of mesenteric desmoid tumor.(AU)

Tumor desmoide: panorama geral e tratamentos / Desmoid tumors: overview and treatment

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.

Tumor desmoide extraabdominal: descripción de un caso y revisión de la bibliografía / Extraabdominal desmoid tumor: case description and review of the literature

Objetivo: presentar un caso clínico de tumor desmoide de maxilar inferior en un niño de 4 años, analizar las características histológicas y el comportamiento clínico e informar el diagnóstico y tratamiento. Caso clínico: un varón de 4 años de edad, sin antecedentes patológicos, fue atendido por presentar tumoración en región mandibular izquierda de 7 meses de evolución. Se realizaron ecografía, tomografía axial computarizada y resonancia magnética, las cuales describieron masa ocupante de espacio sólida, de límites escasamente definidos con resorción perióstica. La biopsia informó neurofibroma submandibular. Se efectuó la extirpación quirúrgica que confirmó el diagnóstico de tumor desmoide extraabdominal. Conclusiones: el tumor desmoide es de histología benigna pero infiltrante, con una tasa de recurrencia alta, por lo que el tratamiento indicado es la resección quirúrgica amplia. La radioterapia puede controlar las lesiones irresecables.

Pediatric fibromatosis involving mandible: case reportand a five-year post-operative follow-up / Fibromatose pediátrica em mandíbula: relato de caso e avaliação pós-operatória de cinco anos

Extra-abdominal fibromatosis is a benign fibrous neoplasm of locally aggressive behavior. Surgical excision with a wide margin is the treatment of choice. The aim of the present work is to report the case of fibromatosis in an 11-year-old melanodermic patient, who showed swelling in the area of the right mandible. Conservative surgery was performed based on the initial histopathological diagnosis of benign lesion suggestive of neural origin. The new anatomopathological examination of the surgical specimen was compatible with fibromatosis. The patient is still under periodic observation as part of the five-year surgical follow-up, showing no signs of recurrence.

Fibromatose extra-abdominal é uma neoplasia fibrosa benigna, caracterizada por comportamento agressivo local. Geralmente, o tratamento de escolha consiste na excisão cirúrgica com ampla margem de segurança. O objetivo deste trabalho é relatar um caso de fibromatose em uma paciente de 11 anos, melanoderma, que apresenta aumento de volume na mandíbula do lado direito. A partir do diagnóstico histopatológico inicial sugestivo de lesão benigna de origem neural, foi realizado tratamento cirúrgico conservador. Um novo exame anatomopatológico da peça cirúrgica foi compatível com fibromatose. A paciente encontra-se sob controle periódico de cinco anos da cirurgia, não havendo recorrência clínica da lesão.

Desmoid Type Fibromatosis in the Facet Joint of Lumbar Spine: Case Report and Review of Literature

Desmoid type fibromatosis is a benign fibroblastic tumor arising from the fascia or musculoaponeurosis. It may occur in various locations, but most commonly in the shoulder girdle and neck; to our knowledge, there has been no reported case originating from a facet joint of the spine. We report CT and MR imaging findings of a desmoid type fibromatosis, involving the facet joint of the L3-4 spine with bone involvement.

Management of desmoid-type fibromatosis involving peripheral nerves / Tratamento da fibromatose tipo desmoide envolvendo nervos periféricos

Desmoid-type fibromatosis is an uncommon and aggressive neoplasia, associated with a high rate of recurrence. It is characterized by an infiltrative but benign fibroblastic proliferation occurring within the deep soft tissues. There is no consensus about the treatment of those tumors. We present a surgical series of four cases, involving the brachial plexus (two cases), the median nerve and the medial brachial cutaneous nerve. Except for the last case, they were submitted to multiple surgical procedures and showed repeated recurrences. The diagnosis, the different ways of treatment and the prognosis of these tumoral lesions are discussed. Our results support the indication of radical surgery followed by radiotherapy as probably one of the best ways to treat those controversial lesions.

A fibromatose do tipo desmoide é uma lesão tumoral agressiva e rara, associada a alto índice de recorrência. É caracterizada pela fibroblástica infiltrativa, porém benigna, que ocorre no interior de tecidos moles profundos. Não existe consenso com relação ao tratamento desses tumores. Apresentamos uma série cirúrgica de quatro casos comprometendo o plexo braquial (dois casos), o nervo mediano e o nervo cutâneo medial do braço. Com exceção do último caso, todos foram submetidos a múltiplos procedimentos cirúrgicos e apresentaram recorrências repetidas. São discutidos o diagnóstico, as diferentes formas de tratamento e o prognóstico dessas lesões tumorais. Nossos resultados apoiam o conceito de que cirurgia radical seguida por radioterapia é uma das melhores formas de se tratar essas controvertidas lesões.

Fibromatosis agresiva de la pared torácica asociada a implante mamario: a propósito de un caso / Aggressive fibromatosis of the chest wall associated to mammary implant: a case report

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

Desmoid tumour of lower abdomen

A desmoid tumour is slow growing fibromatosis with aggressive infiltration of adjacent tissue and extremely unusual systemic metastases. We report a case of a female patient aged 25 years who had a mass in lower abdomen for 2 years. There was no previous history of any surgical intervention. Preoperative evaluation included ultrasound and computed tomography. Patient underwent primary resection with wide margins. Histology revealed a desmoid tumour

Tumor desmóide / Desmoid tumor

O tumor desmóide e uma neoplasia benigna que se origina de diferentes estruturas fasciais ou músculo- aponeuroticas, resultado de uma proliferação fibroblastica . O termo “desmóide” vem do grego desmos, e foi primeiramente utilizado em 1800 para descrever os tumores com consistência de tendão . Pode receber denominações diferentes como fibromatose agressiva , fibroma desmóide e fibromatose músculo-aponeurótica. Está presente em 4 a 13% dos pacientes com polipose adenomatosa familiar (PAF). Apesar de histologicamente benignos, os tumores desmóides tem comportamento maligno , sendo localmente invasivos e com elevada recorrência após a ressecção.

[Infantile desmoplastic fibroma of the maxilla]

Infantile desmoplastic fibromatoses are benign fibrous tissue tumours, non -metastasizing but locally aggressive and with high likelihood of recurrence. Many cases occur in young children between 18 months and 3 years and commonly present as painless mass of the submandibular region. The maxilla is rarely involved. Through this report and a review of literature, we are going to study clinical, pathological and prognostic characteristics of this affection. We report here a case of an aggressive desmoplastic fibroma arising in a 20-months-old infant originating in the left anterior maxillary wall. Clinical examination of the face revealed a non tender, firm, expansion of the left maxilla of 2.5 cm of diameter. The diagnosis of DF of the maxilla was made on the basis of histological features on biopsy specimen. No other location of the fibromatosis was found. The child had a favourable course. DF is an intraosseous, non metastasizing and locally aggressive fibrous tumour. Although its benignity it could engage vital prognosis since it can extend into vital organs

[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

Juvenile hyaline fibromatosis: a case report.

Juvenile hyalinefibromatosis (JHF) is a rare autosomal recessive (4q21) genodermatosis characterized by a triad of cephalic fibrous outgrowths, gingival hypertrophy and flexion contractures. This paper presents a case report of juvenile hyaline fibromatosis.

Giant retroperitoneal desmoid tumour.

A giant retroperitoneal desmoid (30 x 15 cm), in a 16-year old girl arising from psoas fascia is reported. Despite debulking surgery, adjuvant radiotherapy, anti-oestrogen agents and non-steroidal anti-inflammatory agents, 3 years later she died from tumour invasion of major blood vessels and bowel, leading to massive gastrointestinal bleeding.