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Desmoid tumors are rare. They account for roughly 0.03% of all neoplasms and less than 3% of all soft tissue tumors. They are locally aggressive tumors with no known metastatic potential or dedifferentiation. A 29-year-old woman with no family history of neoplasms presented with a mass in the cervical region and moderate pain that had developed a year before. The patient underwent marginal resection of the bilateral posterior and lateral compartments of the neck. The histopathological report confirmed the diagnosis of desmoid tumor with nuclear positivity for beta-catenin. The patient received radiotherapy but did not show a favorable response; she has stable disease and takes colchicine at one-year follow-up.

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Mesenteric fibromatosis is a rare tumor that grows slowly and asymptomatically and is more frequent among men. The risk factors described in the literature may not be present in all cases. The clinical presentation is variable and depends on the localization of the tumor and the involvement of surrounding structures. Imaging studies such as abdominal computed tomography and magnetic resonance imaging are the preferred methods for the diagnosis of this tumor. However, a definitive diagnosis is made based on histopathology and immunohistochemistry results. Surgical resection remains the preferred option for the treatment of mesenteric fibromatosis. This report presents a clinical case of mesenteric fibromatosis in a male patient who presented with partial abdominal obstruction and the absence of risk factors for mesenteric fibromatosis.

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Introdução: Tumores renais estão entre os 10 tipos de câncer mais frequentes na população, com o tumor de Wilms (TW) sendo o mais frequente em crianças e o carcinoma renal de células claras (ccRCC) o mais comum em adultos. O monitoramento de resposta a tratamento por biópsia líquida baseada na análise do DNA tumoral (tDNA) em pacientes com câncer renal usando plasma e urina vem sendo recentemente explorado. No entanto, sua relação na estratificação de prognóstico continua sendo uma área ainda pouco estudada. Ainda, o fator hereditário destes tumores é um campo de pouca investigação. Objetivos: Investigar a predisposição genética em pacientes com tumores renais e explorar o potencial do tDNA em urina e plasma como ferramenta para estratificação de prognóstico. Metodologia: Pacientes com TW e ccRCC foram recrutados de forma prospectiva para estratificação de prognóstico por tDNA. As coletas de amostras de fluidos corpóreos (plasma e urina) foram realizadas de forma seriada, sendo 3 coletas para TW: baseline, antes do tratamento, ou seja, antes da quimioterapia neoadjuvante; M1, após quimioterapia neoadjuvante e M2, após cirurgia; e 5 coletas para ccRCC: baseline, antes do tratamento, ou seja, no dia da cirurgia; M1, de 6 a 8 semanas após cirurgia; M2, 6 meses após cirurgia; M3, 18 meses após cirurgia e M4, 30 meses após cirurgia. Os tumores foram avaliados utilizando dois painéis: um contendo 35 genes para TW (PAINEL TW-35) e outro contendo 28 genes para ccRCC (PAINEL CCR-28). Tumores de pacientes com TW e com ccRCC que foram negativos para variante somática foram submetidos a sequenciamento de exoma ou ao painel comercial CCP (Thermo Fisher, USA) contendo 409 genes de câncer, respectivamente. As variantes somáticas específicas de cada tumor foram rastreadas no cfDNA das amostras de plasma e urina de forma personalizada através de PCR multiplex desenvolvida pelo grupo denominado PATS (personalized amplicon target sequencing). Para os casos de TW, o cfDNA do sobrenadante e do sedimento de urina foram avaliados isoladamente; para os casos de ccRCC, foram avaliados juntos de forma equimolar. Para o teste genético, foi utilizado um painel customizado de 126 genes de predisposição ao câncer tanto na série prospectiva de pacientes recrutados para esse estudo como retrospectiva utilizando amostras de nosso Biobanco. A perda de heteorizogose (LOH) foi avaliada nos casos de pacientes com variantes patogênicas ou de impacto clínico desconhecido e do quais havia DNA tumoral disponível. Sequenciamento de próxima geração (NGS) foi realizado na plataforma Ion GeneStudio S5 (Thermo Fisher, USA) para as análises somáticas e na plataforma NextSeq 500 (Illumina, USA) para as análises germinativas. Resultados: Um total de 10 casos de TW foram recrutados. Na análise somática dos TW foi possível detectar variantes específicas do tumor em 90% dos casos (9/10). WTX, SIX1 e CTNNB1 foram os genes mais mutados, sendo que cada um foi detectado em 2 casos (2/10, ii 20%). Dos 9 pacientes com variante somática específica do tumor, 100% apresenta ram tDNA positivo na coleta realizada antes do tratamento (baseline) em ao menos um fluido corpóreo, sendo 6 no plasma (6/8, 75%) e 4 na urina (4/7, 57%), com frequência alélica (FA) média de 26,48% no plasma e, na urina, 18,92% no sedimento e 17,12% no sobrenadante. Em relação às coletas de monitoramento após quimioterapia neoadjuvante (M1), 71% (5/7) foram tDNA positivos, sendo 5 no plasma (5/7, 71%) com FA média de 42,13% e 4 na urina (4/6, 67%), todos no sobrenadante, com FA média de 3,50%. No monitoramento após cirurgia (M2) 44% (4/9) foram tDNA positivos, sendo 1 no plasma (1/9, 11%) com FA média de 2,60% e 3 na urina (3/9, 33%) com FA média de 3,19% no sedimento e 5,16% no sobrenadante. Nenhuma associação com prognóstico pode ser estabelecida pelo fato da casuística ser pequena. Para os casos de ccRCC, 46 pacientes foram recrutados para o estudo. Foram identificadas variantes somáticas no DNA de tumor em 78,3% (36/46), sendo 35 pelo PAINEL CCR-28 (97%) confeccionado e analisado em um estudo anterior do grupo e a amostra negativa pelo PAINEL CCP no estudo atual. VHL foi o gene mais mutado, alterado em 67% amostras (24/36), seguido por PBRM1 em 36% (13/36). A análise do plasma e urina baseline, coletados antes da cirurgia, foi realizada no estudo anterior do grupo, sendo tDNA positivo detectado em 4 amostras de plasma e 4 de urina (4/32, 12,5% cada) com FA média de 1,83% e 2,66%, respectivamente. Para o monitoramento M1, o tDNA foi positivo no plasma em 10% (2/20) com FA média de 2,60%, e negativo nas 16 amostras de urina. No monitoramento M2, tanto o plasma quanto a urina foram negativos. No monitoramento M3, o tDNA foi positivo no plasma em 11.8% (2/17) e na urina em 7,1% (1/14), com FA média de 1,66% e 1,35%, respectivamente. No monitoramento M4, todas as amostras foram negativas. Foram detectadas associações entre tDNA positivo no plasma baseline (antes da cirurgia) com progressão da doença (p=.015), estadiamento tumoral ≥T3 (p=.002) e com menor sobrevida livre de progressão (p=.004). A análise germinativa em pacientes com TW resultou em uma taxa de detecção de variantes patogênicas (VP) em 10,2% deles (6/59) nos genes BRCA1, CHEK2, WT1 (2 casos), ERBB2 e SDHA. LOH foi avaliada em 7 casos e detectada somente em um caso com WT1. Em pacientes com CCR, 6,9% (5/72) foram portadores de VP nos genes MET, CASR, MITF e MUTYH (2 casos). Desses, 8 foram avaliados para LOH e nenhum foi positivo. Conclusões: Em pacientes com TW, para avaliação de tDNA com prognóstico, é necessário ampliar o número de casos. Em pacientes com ccRCC, a presença de tDNA no plasma coletado antes da cirurgia tem potencial de ser um biomarcador de prognóstico. A análise de genes de risco reforçou o papel de WT1 na predisposição ao TW.

Introduction: Desmoid Tumors (DT) are rare neoplasms with higher incidence in women. Active surveillance has replaced surgery in most of the cases due to rates of local relapses. Real world data are important to identify the barriers in the delivery of the best care for patients with rare tumors. The aim of the present study is to characterize the clinical and epidemiological aspects of DT and to evaluate the relapse rate. Methods: Retrospective, single-center analysis of patients with DT. Variables were age, sex, biopsy, familial adenomatous polypose (FAP) and trauma history, health care system, symptoms, tumor size and site, treatment and recurrence. The disease-free survival (DFS) was calculated with the Kaplan-Meier method. Results: 242 patients were evaluated, mean age was 34 years, 70,7% women, 74% had health insurance, 59.9% with symptom of growing lump, 37,6% originated in the abdomen and 34,3% had size > 5cm. Surgery was performed in 70,2%, 31% with negative margin and only 57% with previous biopsy. Recurrence rate was 38% in 1,2,5-year DFS was 75,3%, 64,2%, 57,8%, respectively. Size (p = 0.022) and tumor location in the dorsum (p = 0.001), extremities (p = 0.003) and pelvis (p = 0.003) were independent variable related to decrease in DFS in the cox regression model. Conclusion: our data reinforces the need to gather data from real world practice and the importance of awareness of DT and medical education about DT behavior and best approach due to the high rates of surgery and elevated number of patients treated without biopsy.

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El Tumor Desmoide, es un tumor raro de origen mesenquimal con una incidencia aproximada de 0.3% (1) que, si bien es considerado un tumor benigno por no presentar metástasis a distancia, se considera un tumor localmente agresivo con altas tasas de recidiva tras la extirpación quirúrgica de entre el 19 a 28% (2). Se presenta el caso clínico de una mujer de 21 años de edad, gestante de 7 semanas, que acudió a consulta a la Unidad de Mastología del Hospital de Clínicas por percatarse de nódulo en cuadrante superoexterno de mama derecha, que aumenta de tamaño. Se realizó exéresis tumoral con márgenes, cuyo diagnóstico fue un Tumor Desmoide y, posterior resección de márgenes para ampliación. El Tumor Desmoide es poco frecuente de localización mamaria, que fue tratada con cirugía con buena evolución en una mujer gestante, por lo que debe considerarse esta patología en pacientes jóvenes gestantes, como diagnóstico diferencial en nódulos mamarios.

Desmoid tumor is a rare tumor of mesenchymal origin with an approximate incidence of 0.3% (1). Although it is considered a benign tumor because it does not present distant metastases, it is considered a locally aggressive tumor with high rates of recurrence after surgical removal of between 19 to 28% (2). We present the clinical case of a 21-year-old woman, 7 weeks pregnant, who attended the Mastology Unit of the Hospital de Clínicas, after noticing a nodule in the upper outer quadrant of the right breast, which was increasing in size. Tumor excision with margins was performed, whose diagnosis was a Desmoid Tumor, and subsequent resection of margins for amplifying The Desmoid Tumor is rare in the breast and was treated with surgery with a good evolution in a pregnant woman, so this pathology should be considered in young pregnant patients, as a differential diagnosis in breast nodules.

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Resumen: La fibromatosis mesentérica es un subtipo profundo de tumor desmoide (TD), un tumor benigno de origen fibroblástico localmente agresivo por su tendencia a infiltrar los tejidos adyacentes. Son raros, esporádicos y pueden asociarse con el síndrome de Gardner. El tratamiento de elección es la resección completa, evitando la recurrencia local. Comunicamos el caso clínico de una paciente con fibromatosis intrabdominal mesentérica única, bien circunscripta, que simulaba por la imagenología una masa de origen pelviano.

Summary: Mesenteric fibromatosis is a deep sub-type of desmoid tumors consisting of a benign tumor of fibroblastic origin which is locally aggressive given its tendency to infiltrate adjacent tissues. They are unusual and sporadic, and may be associated to Gardner's Syndrome. Complete resection is the treatment of choice, avoiding local recurrence. The study reports the clinical case of a patient with intra-abdominal sporadic mesenteric fibromatosis, well circumscribed that appeared to be a pelvic mass in MR imaging.

Resumo: A fibromatose mesentérica é um subtipo profundo de tumor desmóide (DT); é um tumor benigno de origem fibroblástica que é localmente agressivo devido à sua tendência a infiltrar tecidos adjacentes. São raros, esporádicos e podem estar associados à síndrome de Gardner. O tratamento de escolha é a ressecção completa, evitando recidiva local. Relatamos o caso clínico de uma paciente com fibromatose mesentérica intra-abdominal única e bem circunscrita que simulava uma massa de origem pélvica na imagem.

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Introdução: O tumor desmoide (TD) é uma neoplasia rara com altas taxas de recorrência local, composto por células fibroblásticas que se caracterizam pela expressão de moléculas-chave, incluindo o filamento intermediário vimentina, ciclooxigenase-2 (COX-2) e ß-catenina nuclear. Células tumorais circulantes (CTCs) isoladas do sangue periférico de pacientes com sarcomas e outras neoplasias podem ser utilizadas como biomarcadores precoces de invasão e disseminação tumoral. A família dos Receptores do Fator de Crescimento Epidérmico (Epidermal Growth Factor Receptor, EGFR) também podem influenciar no processo de invasão das CTCs, na formação de metástases e na recolonização de seus tumores de origem por meio de um processo de "auto-semeadura do tumor". Objetivo: Nosso objetivo foi identificar CTCs no sangue periférico de pacientes com TD ou sarcomas e avaliar a expressão das proteínas ß-catenina, TGF-ßRI (do Inglês, Transforming Growth Factor-ß Receptor I), COX-2 (Cyclooxygenase2), vimentina, GLUT-1 (Glucose Transporter 1), LGR5 (G-Protein Coupled Receptor 5) e EGFR, e sua correlação com sobrevidas global (SG) e livre de progressão (SLP). Materiais e Métodos: Foi realizado um estudo prospectivo de pacientes com diagnóstico inicial ou TD recidivado com doença mensurável. Para sarcomas, utilizamos amostras coletadas de forma prospectiva e retrospectiva. As amostras de sangue de cada paciente foram processadas e filtradas pelo ISET® (Rarecells, França) para isolamento e quantificação de CTCs. A expressão das proteínas foi analisada por imunocitoquímica (ICC). Para análise molecular das CTCs provenientes de pacientes com TD foi padronizado o método de PCR digital. Resultados: Foram incluídos 18 pacientes com TD, todos com CTCs detectáveis, com níveis que variaram entre 0,5­13 CTCs/mL. Encontramos uma concordância da expressão de ß-catenina em CTCs e tumores primários de 42,8% (6/14) dos casos usando ICC e imunohistoquímica, respectivamente. Nos nossos testes prévios de PCR digital, encontramos cópias mutadas de S45Pro em 4 pacientes (40%) e de S45Phe em apenas um paciente (10%). Em contraste, não foram encontradas mutações Th41Ala. Nas amostras de sarcomas, analisamos 30 amostras e encontramos CTCs em 93% dos pacientes e os níveis variaram de 0-11,25 CTCs/mL. Observamos também que a SG dos pacientes positivos para EGFR (p=0,027) eram inferiores às sobrevidas dos pacientes negativos para as mesmas proteínas. Conclusões: Nosso estudo identificou alta prevalência de CTCs em pacientes com TD e sarcomas. A concordânciada expressão de ß-catenina entre tumor primário e CTCs traz novas perspectivas para avaliar a dinâmica das CTCs no compartimento sanguíneo, abrindo novos caminhos para o estudo da biologia e comportamento do TD. Este é o primeiro estudo a demonstrar a expressão da proteína LGR5 em CTCs de pacientes com diferentes tipos de sarcomas, o que pode abrir novas oportunidades para futuras investigações. O próximo passo é caracterizar CTCs em uma coorte maior de pacientes para entender melhor o papel do LGR5 e das demais proteínas no processo de metástases tumorais em sarcomas. Além disso, esses resultados abrem a possibilidade de usar CTCs para prever a dinâmica do TD no momento da progressão da doença e tratamento. Mais estudos com tamanhos de amostra maiores são necessários para validar nossos achados tanto em TD como em sarcomas

Introduction: Desmoid tumor (DT) is a rare neoplasm with high rates of local recurrence, composed of fibroblast cells that are characterized by the expression of key molecules, including the intermediate filament vimentin, cyclooxygenase-2 (COX-2) and ß-catenin. Circulating tumor cells (CTCs) isolated from the peripheral blood of patients with sarcomas and other neoplasms can be used as early biomarkers of tumor invasion and dissemination. The Epidermal Growth Factor Receptor (EGFR) family can also influence the process of CTC invasion, metastasis formation and recolonization of their tumors of origin through a process of "tumor selfseeding". Objective: Our objective was to identify CTCs in the peripheral blood of patients with TD or sarcomas and to evaluate the expression of ßcatenin proteins, transforming growth factor receptor beta I (TGF-ßRI), COX-2 (cyclooxygenase-2), vimentin, GLUT-1 (Glucose transporter 1), LGR5 (Gprotein coupled receptor 5) and EGFR and their relation with progression free (PFS) and overall suvival (OS). Methods: We performed a prospective study of patients with initial diagnosis or relapsed TD with measurable disease. For sarcomas, we used samples collected prospectively and retrospectively. Blood samples from each patient were processed and filtered by ISET® (Rarecells, France) for isolation and quantification of CTCs. Protein expression was analyzed by immunocytochemistry (ICC). For the molecular analysis of CTCs from patients with TD, the digital PCR method was standardized. Results: Eighteen TD patients were included, all with detectable CTCs, with levels ranging from 0.5­13 CTCs/mL. We found a concordance ofß-catenin expression in CTCs and primary tumors of 42.8% (6/14) of cases using ICC and immunohistochemistry, respectively. In our previous digital PCR tests, we found mutated copies of S45Pro in 4 patients (40%) and of S45Phe in only one patient (10%). In contrast, no Th41Ala mutations were found. In the sarcoma samples, we analyzed 30 samples and found CTCs in 93% of the patients and the levels ranged from 0-11.25 CTCs/mL. We also observed that the OS of EGFR positive patients (p=0.027) were lower than the survival of negative patients for the same proteins. Conclusions: Our study identified a high prevalence of CTCs in patients with TD and sarcomas. The agreement of ß-catenin expression between primary tumor and CTCs brings new perspectives to evaluate the dynamics of CTCs in the blood compartment, opening newavenues for the study of the biology and behavior of TD. This is the first study to demonstrate the expression of LGR5 protein in CTCs from patients with different types of sarcomas, which may open new opportunities for future investigations. The next step is to characterize CTCs in a larger cohort of patients to better understand the role of LGR5 and other proteins in the process of tumor metastases in sarcomas. Furthermore, these results open up the possibility of using CTCs to predict the dynamics of TD at the time of disease progression and treatment. More studies with larger sample sizes areneeded to validate our findings in both TD and sarcomas

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INTRODUCTION: Desmoid tumor (DT) is a rare neoplasm with high local recurrence rates, composed of fibroblastic cells that are characterized by the expression of key molecules, including the intermediate filament vimentin, cyclooxygenase-2 (COX-2), and nuclear ß-catenin, and lack of epithelial markers. Circulating tumor cells (CTCs) isolated from the peripheral blood of patients with sarcomas and other neoplasms can be used as early biomarkers of tumor invasion and dissemination. Moreover, CTCs can also re-colonize their tumors of origin through a process of "tumor self-seeding." OBJECTIVES: We aimed to identify CTCs in the peripheral blood of patients with DT and evaluate their expression of ß-catenin, transforming growth factor receptor I (TGF-ßRI), COX-2, and vimentin proteins. MATERIAL AND METHODS: We conducted a prospective study of patients with initial diagnosis or relapsed DT with measurable disease. Blood samples from each patient were processed and filtered by ISET® (Rarecells, France) for CTC isolation and quantification. The CTC expression of ß-catenin, COX-2, TGF-ßRI, and vimentin was analyzed by immunocytochemistry (ICC). RESULTS: A total of 18 patients were included, and all had detectable CTCs. We found a concordance of ß-catenin expression in both CTCs and primary tumors in 42.8% (6/14) of cases by using ICC and immunohistochemistry, respectively. CONCLUSIONS: Our study identified a high prevalence of CTCs in DT patients. Concordance of ß-catenin expression between primary tumor and CTCs brings new perspectives to assess the dynamics of CTCs in the blood compartment, opening new avenues for studying the biology and behavior of DT. In addition, these results open the possibility of using CTCs to predict DT dynamics at the time of disease progression and treatment. Further studies with larger sample sizes are needed to validate our findings.

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La fibromatosis tipo desmoide es un tumor benigno de suma rareza con características localmente agresivas. Se desarrolla en especial en tejidos blandos por su origen en los músculos y las aponeurosis. El diagnóstico se establece por inmunohistoquímica con positividad para vimentina, B-catenina y en ocasiones para actina de músculo liso. El espectro clínico de presentación es amplio, y según este y la resecabilidad se ofrece el tratamiento. Presentamos el caso de una paciente con síntomas de obstrucción al vaciamiento gástrico secundaria a una lesión subepitelial en cuerpo con inmunohistoquímica concluyente para fibromatosis gástrica.Desmoid-type fibromatosis is an extremely rare benign tumor with locally aggressive features. It is predominantly developing in soft tissues due to its origin in muscles and aponeurosis. The diagnosis is established by immunohistochemistry with positivity for vimentin, B-catenin and sometimes for smooth muscle actin. The clinical spectrum of presentation is wide, based on this and resectability the treatment is offered. We present the case of a patient with symptoms of gastric outlet obstruction secondary to a subepithelial lesion in the gastric body with conclusive immunohistochemistry for gastric fibromatosis.

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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.

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.

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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.

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Desmoid tumors represent a rare entity of monoclonal origin characterized by locally aggressive behavior and inability to metastasize. Most cases present in a sporadic pattern and are characterized by a mutation in the CTNNB1 gene; while 5-15% show a hereditary pattern associated with APC gene mutation, both resulting in abnormal ß-catenin accumulation within the cell. The most common sites of presentation are the extremities and the thoracic wall, whereas FAP associated cases present intra-abdominally or in the abdominal wall. Histopathological diagnosis is mandatory, and evaluation is guided with imaging studies ranging from ultrasound, computed tomography or magnetic resonance. Current approaches advocate for an initial active surveillance period due to the stabilization and even regression capacity of desmoid tumors. For progressive, symptomatic, or disabling cases, systemic treatment, radiotherapy or surgery may be used. This is a narrative review of this uncommon disease; we present current knowledge about molecular pathogenesis, diagnosis and treatment.

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Desmoid tumors are clinical entities rarely diagnosed at an initial presentation because of its low incidence, they are characterized by a locally aggressive presentation and high rates of local relapse. Its presentation can be intra- or extra-abdominal. We present a clinical case of a female, 15 year old patient, with three months of abdominal pain, a giant intra-abdominal mass was diagnosed with histologic diagnosis of desmoid tumor. Several surgical procedures were performed, having a las a R1 resection (focally microscopic margins). In this case association with pregnancy, abdominal trauma, previous surgeries and genetic syndromes were discarded.

Los tumores desmoides son afecciones benignas raramente reconocidas de manera inicial por su baja incidencia. Se caracterizan por un comportamiento local agresivo y altas tasas de recurrencia. Su presentación puede ser extraabdominal o intraabdominal. Presentamos el caso de una paciente de 15 años con cuadro de dolor abdominal de 3 meses de evolución, en la que se documentó una gran masa intraabdominal con diagnóstico histológico de tumor desmoide y fue sometida a múltiples intervenciones quirúrgicas con las que se logró una resección R1 (microscópicamente positivo). Se descartó su asociación con embarazo, trauma abdominal, cirugías previas y síndromes genéticos.

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Extraabdominal desmoid tumors are uncommon soft-tissue tumors. The etiology of the tumor is still unclear. Injury is one of the etiological factors of soft-tissue tumors. A 41-year-old female patient who had a traumatic vertebral body fracture on the thoracic spine was treated conservatively. Two and a half years later, she presented a painful, palpable swelling on the thoracolumbar region. In the present report, was discuss the patient, who underwent a surgery to remove the desmoid tumor (aggressive fibromatosis), within the context of the current literature. The literature on desmoid tumor caused by a trauma is rare. This is the first case that demonstrates an extraabdominal desmoid tumor following a spinal fracture. The swelling on the region of the trauma must be examined carefully and desmoid tumor must be kept in mind as a possible diagnosis.

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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)

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RESUMEN Introducción y objetivos: La fibromatosis produce tumores benignos pero localmente agresivos, que afectan a los tejidos blandos. A nivel mamario, representa tan sólo el 0.2% de las neoplasias de la mama. Nuestro objetivo con el presente artículo es profundizar en el conocimiento de la fibromatosis mamaria, a través del estudio de dos casos clínicos, mostrando sus características clínico-radiológicas e histológicas, e intentar establecer un protocolo de actuación adecuado. Métodos: Estudio retrospectivo de dos casos clínicos de fibromatosis mamaria diagnosticados en el Hospital Universitario La Paz entre los años 2018 y 2019. Resultados: Presentaremos dos pacientes con diagnóstico de fibromatosis mamaria, ambas debutaron con la autopalpación de un nódulo mamario. Al realizarles una ecografía, se visualizó un nódulo sólido, mal definido y axila ecográficamente negativa, que precisó de biopsia-aspiración con aguja gruesa. En los dos casos, se decidió resección quirúrgica de la lesión. Seguimiento mediante exploración mamaria y pruebas de imagen periódicas. Conclusiones: Aunque se trata de una entidad benigna, la fibromatosis mamaria puede simular un proceso maligno, tanto clínica como radiológicamente, por lo que precisa de un estudio histológico. A pesar de que la diseminación metastásica es muy poco frecuente, no se debe olvidar el carácter agresivo a nivel local de esta patología, y sus altas tasas de recurrencia. Como tratamiento, se debe realizar una resección quirúrgica, aunque recientemente se ha contemplado la opción de vigilancia estrecha sin tratamiento. No existe evidencia científica que justifique la utilización de otros tratamientos como la radioterapia o el tratamiento hormonal.

ABSTRACT Introduction and objectives: Fibromatosis produces benign but locally aggressive tumours that affect soft tissues. At breast level, it represents only 0.2% of breast neoplasms. Our goal with this article is to increase knowledge on breast fibromatosis, through the study of two clinical cases; explaining their clinical-radiologic and histological characteristics. Additionally, try to establish an adequate protocol, for the management of the disease and for its subsequent monitoring. Methods: A retrospective study about two clinical cases of breast fibromatosis diagnosed in La Paz Hospital between 2018-2019. Results: both patients presented with clinical manifestations, autopalpation of a breast nodule. A breast ultrasound was performed and a solid nodule was visualized, with poorly defined edges and ecographically negative armpit. A core needle biopsy was performed to confirm the histological diagnosis. In both clinical cases, the treatment was surgical resection of the lesion. Periodic revisions are being performed in order to exclude recurrence. Conclusions: Although it is a benign disease, breast fibromatosis can simulate a malignancy, both in a clinical and radiological way, so histological study is mandatory in order to achieve an accurate diagnosis. Even metastatic dissemination is extremely rare, the local aggressive nature and high rates of recurrence for fibromatosis makes surgical excision, with wide free margins, the most important tool in treatment, although the possibility of close surveillance without treatment is recently being contemplated. There is no scientific evidence to justify the use of other treatments such as radiotherapy or hormonal treatment.

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PURPOSE: Pediatric peripheral nerve tumors (PNTs) are rare. Most are related to neurofibromatosis type 1 (NF1) with the potential for malignancy. An ongoing debate occurs about the best approach to such patients. This study describes a cohort of pediatric patients with PNTs and discusses clinical characteristics and surgical treatment. METHODS: We retrospectively reviewed the charts of seven pediatric patients with eight PNTs surgically treated from 2007 to 2018. Information concerning patient demographics, clinical presentation, PNTs characteristics, treatment choice, and outcome were recorded. RESULTS: All children presented with intense pain and a palpable mass. Three of the eight tumors were associated with a neurological deficit. Among the four patients with NF1, two had a neurofibroma and two a malignant peripheral nerve sheath tumor (MPNST). Histologically, three of the lesions were a benign peripheral nerve sheath tumor (BPNST), three a MPNST, and one each a desmoid tumor and Ewing's sarcoma. Two of the eight tumors underwent partial tumor excision and six gross total excisions. CONCLUSIONS: Intense pain at rest, day, and/or night, preventing normal activities; a palpable, hard, immobile mass; an intense Tinel's sign related to the lump; clinical evidence of NF1; and high-speed growth of a tumor in the trajectory of the nerve or plexus should alert the clinician to the potential for malignancy. Preoperative biopsy is not indicated when clinical and imaging findings suggest a benign tumor. The surgical management of PNTs must be to achieve total resection, including wide margins with malignant tumors, though this is not always possible.

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Familial adenomatous polyposis (FAP) is an autosomal dominant genetic condition, caused by mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. Desmoid tumors (DTs) are seen in 15% to 20% of FAP patients. Specific location of mutation serves as a guide to predict colonic and extra colonic manifestations and their aggressiveness. A severe FAP-phenotypic family was registered in a genetic counselling high-risk Uruguayan hereditary cancer clinic. Proband's DNA was analysed by NGS, detecting a pathogenic mutation in APC gene. All willing family members were counselled and encouraged to be tested. Here we report a kindred formed by 16 individuals with a very severe FAP phenotype. A two-base deletion mutation: c.4393_4394delAG in APC gene and a consequent premature stop codon was detected. DTs were diagnosed in 6 individuals, ranging from 2 to 25 years of age. The causes of death were diverse: gastric cancer, rectal cancer and desmoid tumor. The already described genotype-phenotype correlation has proved its worth in this family, as clinical features reflect the mutation location at 3' end of APC gene. The inheritable and lethal nature of the disease needs a tailored follow up approach in order to reduce mortality, optimize local tumor control, and preserve patients' quality of life.

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BACKGROUND: Desmoid-type fibromatosis is a benign mesenchymal neoplastic process. It exhibits an uncertain growth pattern and high recurrence rate. Previously radical surgical resection was the mainstay of treatment, but recently more surgeons are opting for conservative management with observation ("wait and see" policy). The authors intend to evaluate different therapeutic modalities and oncological outcomes for abdominal wall desmoid tumors. METHODS: We performed a retrospective study of patients who underwent surgical, hormonal or chemotherapy treatment for abdominal wall desmoid tumors between 1982 to 2014 at two institutions affiliated with the University of São Paulo, Brazil. RESULTS: In the study period, 32 patients were included. Twenty-seven patients had surgery upfront. Of those, 89% were women with a median age of 33 years. Mean tumor size was 10 cm. Pathology confirmed free margins in 92% of resections. Tumor recurrence rate was 11%, with median relapse-free survival being 24 months. Multivariate analysis showed that positive final margins (p < 0.001) and positive frozen section (p = 0.001) were independent predictors of recurrence. For the 5 patients who underwent pharmacological therapy, median age was 33 years and median tumor diameter before treatment was 13 cm. Four patients exhibited partial response by Response Evaluation Criteria in Solid Tumors (RECIST). The single patient who did not respond to RECIST underwent radiotherapy. CONCLUSION: Desmoid tumor treatment has been evolving over the past decade towards a more conservative approach. Pharmacological treatment may result in tumor size regression. When surgical excision is indicated, positive margins represent an important prognostic factor for local tumor recurrence.

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Resumen Paciente masculino de 40 años, consulta por dolor en región glútea izquierda, asociado a masa de crecimiento progresivo; inicialmente valorado por ortopedia, donde le realizan radiografía y gammagrafía sin diagnóstico definitivo; revalorado por ortopedia y traumatología, luego de resonancia magnética y biopsia del glúteo comprometido se diagnostica fibromatosis glútea, la cual fue tratada con una resección del tejido invasivo y posteriormente radioterapia complementaria con acelerador lineal. Conclusión: Los tumores desmoides son infrecuentes y representan 0,03 % de todas las neoplasias y < 3 % de todos los tumores de tejidos; la cirugía ha sido tradicionalmente el pilar terapéutico debido a la variabilidad en el curso clínico y la importancia del sitio involucrado se asocia al tratamiento y aplicación de radioterapia.

Abstract 40 year old male patient complains about pain in left gluteal region, associated with progressive growing mass; initially valued by orthopedics, which performed x-ray scan and gammagraphy without a definitive diagnosis. He was reassessed by orthopedics and traumatology, through magnetic resonance imaging and biopsy of the committed gluteal, and was diagnosed with gluteal fibromatosis, which was treated with invasive tissue resection and subsequently additional accelerator radiotherapy. Conclusions: Desmoid tumors are rare and account for 0.03 % of all malignancies and <3 % of all tumors of tissues. Surgery has traditionally been the therapeutic mainstay due to variability in the clinical course and importance of the site of involvement is associated with the treatment and application of radiation therapy.

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