Fibromatosis del recto anterior del abdomen. Reporte de caso / Fibromatosis of the rectus abdominis. Case report

La fibromatosis es un tumor fibroblástico benigno, poco frecuente. El músculo recto anterior del abdomen es uno de los músculos de la pared abdominal más habitualmente afectado. Es un tumor con una alta frecuencia en la invasión local y recurrencia. La marcación para ß-catenina en el inmunofenotipo certifica el diagnóstico. Los márgenes negativos microscópicos (R0) deben ser el objetivo de la resección quirúrgica. La edad joven, el gran tamaño tumoral y los márgenes positivos son parámetros asociados a la recurrencia local. Presentamos el caso clínico de una paciente joven a la cual en el contexto de una abdominoplastia se le diagnostica una tumoración en el sector medio del recto anterior del abdomen izquierdo. Se hizo una biopsia incisional que certificó que correspondía a una fibromatosis abdominal (FA). Confirmado el diagnóstico se realizó resección de la tumoración y reparación de la pared abdominal con malla de polipropileno.

Fibromatosis is a rare, benign fibroblastic tumor. The rectus abdominis muscle is one of the most commonly affected abdominal wall muscles. It is a tumor with a high frequency of local invasion and recurrence. Marking for ß-catenin in the immunophenotype certifies the diagnosis. Microscopic negative margins (R0) should be the target of surgical resection. Young age, large tumor size, and positive margins are parameters associated with local recurrence. We present the clinical case of a young patient who, in the context of an abdominoplasty, was diagnosed with a tumor in the middle sector of the left rectus abdominis. An incisional biopsy was performed, which certified that it corresponded to abdominal fibromatosis (AF). Once the diagnosis was confirmed, the tumor was resected and the abdominal wall repaired with polypropylene mesh

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.

Clinical results of collagenase treatment for dupuytren's disease: a case series study with 2-years follow-up / Resultados clínicos do tratamento com colagenase para a doença de dupuytren: um estudo de série de casos com 2 anos de acompanhamento

ABSTRACT Objectives: This study aims to report our experience with Clostridium Histolyticum collagenase (CCH) to support the importance of its clinical use and assess its clinical efficacy, complications, and recurrences. Methods: This prospective observational study of 66 patients with a 2-year follow-up. Patients with an extension lag major of 20° at the metacarpophalangeal joint (MPJ) and/or proximal interphalangeal joint (PIPJ) were included. We collected data on demographic and anamnestic details, MPJ and PIPJ contracture degrees, DASH score, complications, and recurrences. Results: The mean pre-injection contracture was 34° for MPJ and 31° for PIPJ. At the 2-year follow-up, the mean contracture for the MPJ and PIPJ were respectively 3° and 14.5°. The mean DASH score decreased from 21.8 before injection to 10,4 after 2 years. The disease recurrence occurred in 34.8% of the patients, all with PIPJ contracture. The main complication was skin breakage (25.7%). Conclusion: The CCH injections remain a consistent option in treating DD; withdrawal from the European market deprives surgeons and patients of low invasiveness and safe tool for treating DD. Level of evidence IV, Therapeutic study investigating treatment results, Case series.

RESUMO Objetivos: O objetivo deste estudo é relatar nossa experiência com Clostridium Histolyticum colagenase (CCH) para apoiar a importância de seu uso clínico e para avaliar sua eficácia clínica, complicações e recidivas. Métodos: Estudo observacional prospectivo de acompanhamento por 2 anos em 66 pacientes com um atraso de extensão maior de 20° na articulação metacarpofalângica (MPJ) e/ou articulação interfalângica proximal (PIPJ). Foram coletados dados sobre detalhes demográficos e anamnésicos, graus de contração da MPJ e PIPJ, escore de DASH, complicações e recidivas. Resultados: A média da contração pré-injeção foi de 34° para a MPJ e 31° para a PIPJ. Com 2 anos de acompanhamento, a contração média para a MPJ e PIPJ foi de 3° e 14,5° respectivamente. A pontuação média do DASH diminuiu de 21,8 antes da injeção para 10,4 após 2 anos. A recorrência da doença ocorreu em 34,8% dos pacientes, todos com contração de PIPJ. A principal complicação foi a quebra da pele (25,7%). Conclusão: As injeções de CCH continuam sendo uma opção consistente no tratamento do DD; a retirada do medicamento do mercado europeu priva os cirurgiões e pacientes de uma ferramenta pouco invasiva e segura para o tratamento do DD. Nível de evidência IV, Estudo terapêutico que investiga os resultados do tratamento, série de casos.

Avaliação clínica e epidemiológica de tumor desmoide no Brasil: estudo brasileiro / Clinical and epidemiological evaluation of desmoid tumor in Brazil: a Brazilian study

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.

Fibromatosis mesentérica solitaria. Reporte de caso y revisión de la literatura / Sporadic mesenteric fibromatosis. A case report. Literature review / Fibromatose mesentérica solitária. Relato de caso. Revisão da literatura

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.

Tratamiento quirúrgico de la fibromatosis agresiva en relación con cesárea previa / Surgical treatment of aggressive fibromatosis in relation to previous cesarean section

Introducción. Los tumores desmoides son lesiones de los tejidos blandos, histológicamente benignas, poco frecuentes y con gran agresividad local y carencia de potencial metastásico. Se relacionan estrechamente con antecedentes traumáticos o quirúrgicos, como la cesárea, y su tratamiento generalmente es quirúrgico. Métodos. Presentamos una serie de tres pacientes intervenidas en nuestro centro durante el año 2020. Se revisan sus antecedentes y se describe su tratamiento. Resultados. En todas nuestras pacientes se encontró algún antecedente quirúrgico, dos cesáreas y una resección de un disgerminoma. El tratamiento empleado fue la resección quirúrgica con márgenes libres y reparación del defecto mediante malla. Conclusiones. El tumor desmoide es una patología poco frecuente, su diagnóstico se realiza mediante exámenes imagenológicos y se confirma con el estudio histológico; es importante hacer el diagnóstico diferencial con el sarcoma. La cirugía radical sigue siendo el tratamiento de elección, aunque algunos autores proponen el tratamiento conservador.

Introduction. Desmoid tumors are soft tissue lesions, histologically benign, rare and with great local aggressiveness and lack of metastatic potential. They are closely related to traumatic or surgical history such as caesarean section. Their treatment is generally surgical. Methods. We present a case series of three patients operated on in our center during the year 2020. Their history is reviewed and their type of treatment is presented. Results. In all our patients, surgical history was found (two caesarean sections and one resection of a dysgerminoma). The treatment used was surgical resection with free margins and mesh repair of the defect. Conclusions. Desmoid tumor is a rare pathology; its diagnosis is made by imaging studies, and confirmed by histology. It is important to make a differential diagnosis with sarcoma. Radical surgery remains the treatment of choice, although some authors propose conservative treatment.

Ultrasonographic findings of desmoid fibromatosis / 中国医师杂志

Objective:To explore the ultrasonographic features of desmoid fibromatosis and provide evidence for clinical management.Methods:The ultrasonic images and clinical data of 22 cases of desmoid fibromatosis confirmed by pathology in the Union Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from 2016 to 2021 were retrospectively analyzed. The location, size, shape, boundary, internal echo, posterior acoustic enhancement, relationship with surrounding tissues and blood flow of the lesion were evaluated.Results:The maximum diameter of lesions in 22 patients ranged from 0.8 cm to 11.3 cm (5.2±2.4)cm. (1) There were 17 cases of extra-abdominal shape: 10 cases of irregular shape, 4 cases of spindle shape, and 3 cases of oval shape. In 10 cases, the lesion boundary was not clear, and the lesion was infiltrated along the muscle, fascia or adipose tissue. Uneven hypoechogenicity was found in 11 cases, and strip or patchy strong echo was found in 4 cases. 5 cases with posterior echogenicity enhancement; color Doppler flow imaging (CDFI) blood flow classification: grade 0 in 2 cases, grade 1 in 7 cases, grade 2 in 7 cases, and grade 3 in 1 case. (2) Abdominal wall type in 5 cases: oval shape in 2 cases, spindle shape in 2 cases, irregular shape in 1 case; In 3 cases, the boundary was not clear and was infiltrative along the muscle. Inhomogeneous hypoecho was found in 4 cases. Posterior echogenicity was enhanced in 1 case. CDFI blood flow classification: grade 1 in 2 cases, grade 2 in 2 cases, grade 3 in 1 case.Conclusions:The sonograms of typical desmoid fibromatosis have certain features. Combined with the patient′s history and clinical manifestations, they can provide an important basis for the clinical management of the disease.

A case report of right ureteral stenosis caused by pelvic desmoid-type fibromatosis / 中华泌尿外科杂志

Desmoid-type fibromatosis is a rare benign tumor with invasive growth, which can occur in all parts of the body, mostly in the abdominal wall, and also in the abdomen and skeletal muscle. This paper reports a case of right ureteral stenosis caused by pelvic desmoid-type fibromatosis. Pelvic tumor resection, ileocecal resection and ureterovesical replantation were performed. The patients were followed up for 18 months without local recurrence and distant metastasis.

Juvenile hyaline fibromatosis: a case report and literatures review / 口腔疾病防治

Objective@#To investigate the clinicopathological characteristics, imaging manifestations, genetic manifestations, diagnosis and treatment of juvenile hyaline fibromatosis.@*Methods @# A case of juvenile hyaline fibromatosis was reported, and the patient's clinical manifestations, imaging examinations, histopathological examinations, genetic changes and treatment were summarized and analyzed.@*Results @#Juvenile hyaloid fibromatosis is more common in infants and children. This patient had typical clinical and pathological manifestations, including posterior occipital masses, skin and subcutaneous nodules, gum hyperplasia, joint contractures, and joint osteolytic lesions. The histopathological lesions were characterized by the proliferation of spindle cells in the tissue accompanied by a large amount of amorphous transparent matrix. Genetic testing was performed to confirm an ANTXR2 gene mutation, consistent with the known genetic changes of juvenile hyaline fibromatosis. The 6-month follow-up of the patient showed that there was no obvious recurrence after resection of the gum and facial mass. In addition to surgery, the treatment of this disease requires multidisciplinary symptomatic treatment combined with rehabilitation and supportive treatment to achieve a better prognostic effect.@*Conclusion@# Juvenile hyaline fibromatosis is a rare nonneoplastic autosomal recessive genetic disease. Mutations in the ANTXR2 gene lead to disorders of collagen synthesis and metabolism in the tissues and further cause subcutaneous nodules, gingival hyperplasia, joint contractures and bone dissolution.

Tumor desmoide abdominal gigante en puerperio: caso clínico y revisión de la literatura / Giant abdominal desmoid tumor during the puerperium: Case report and review of literature

Introducción. Los tumores desmoides o fibromatosis agresiva corresponden a neoplasias mesenquimales poco frecuentes. Son tumores localmente agresivos que ocurren especialmente en jóvenes, no desarrollan metástasis a distancia, pero se asocian con invasión locorregional y alta tasa de recurrencia después de la resección. Su etiología es desconocida, pero se ha asociado al síndrome de Gardner, trauma, embarazo, estados hiperestrogénicos y puerperio. El objetivo de este artículo fue hacer una revisión sobre el tema a propósito de un caso clínico. Caso clínico. Se presenta el caso de una paciente puérpera con progresivo y rápido aumento del volumen abdominal. Se realizó una tomografía computarizada de abdomen y pelvis que confirmó la presencia de una masa intraperitoneal bien definida. La paciente fue operada con escisión de la masa y confirmación histológica de tumor desmoide a partir de la muestra de patología. Discusión. Los tumores desmoides tienen una incidencia de 2 a 4 casos por millón de habitantes por año, con leve predominio en el sexo femenino y representan menos del 3 % de los tumores de partes blandas. Aunque el tumor se puede ubicar a nivel intraabdominal o en la pared, la ubicación más común es en las extremidades. Conclusiones. La sospecha y detección del tumor desmoide es fundamental, así como su adecuado estudio, para determinar el tratamiento quirúrgico como fue realizado en este caso

Introduction. Desmoid tumors or aggressive fibromatosis correspond to rare mesenchymal neoplasms. They are locally aggressive tumors that occur especially in young people, they do not develop distant metastases, but are associated with locoregional invasion and a high recurrence rate after resection. Its etiology is unknown, but it has been associated with Gardner syndrome, trauma, pregnancy, hyperestrogenic states, and puerperium. The objective of this article was to review the topic based on a clinical case. Clinical case. The case of a puerperal patient with progressive and rapid increase in abdominal volume is presented. An abdominal and pelvic CT scan was performed, which confirmed the presence of a well-defined intraperitoneal mass. The patient underwent surgery with excision of the mass and histological confirmation of a desmoid tumor from the pathology sample. Discussion. Desmoid tumors have an incidence of 2 to 4 cases per million inhabitants per year, with a slight predominance in females, and represent less than 3% of soft tissue tumors. Although the tumor can be located intra-abdominal or in the wall, the most common location is in the extremities. Conclusions. The suspicion and detection of the desmoid tumor is essential, as well as its adequate study to determine the surgical treatment as it was done in this case

Hereditary gingival fibromatosis: a case report / Fibromatosis gingival hereditaria: informe de caso

Introduction: Hereditary gingival fibromatosis is a rare disorder with a genetic component that may appear during tooth replacement. This condition can cause functional and aesthetic problems such as malocclusions, diastemas, pain when chewing, dental caries, periodontal disease, delayed eruption, among others. Objective: To report the multidisciplinary treatment provided to a patient with hereditary gingival fibromatosis. Case Report: This report describes the treatment carried out in a thirteen-year-old male patient presenting generalized increase in gingival volume associated with functional and aesthetic compromise and delayed eruption of permanent teeth. After diagnosis, a multidisciplinary intervention was proposed, involving periodontal and pediatric dentistry procedures, which improved the quality of life of the patient both functionally and aesthetically. Conclusion: Hereditary gingival fibromatosis not only affects the dental eruption process, but also causes aesthetic and emotional alterations in the patient. The periodontal procedures significantly improved the appearance, function, and the psychological state of the patient.

Introducción: La fibromatosis gingival hereditaria es una altera-ción poco común, asociada a un componente genético que en ocasiones se hace evidente en el recambio dentario. Este padecimiento puede generar problemas funcionales y estéticos como maloclusiones, diastemas, dolor al masticar, caries, enfermedad periodontal, erupción tardía, entre otros. Objetivo: Reportar el caso clínico con manejo interdisciplinario en un paciente con fibromatosis gingival hereditaria. Reporte de Caso: Se expone el tratamiento realizado en un paciente de trece años, sexo masculino, con aumento de volumen gingival generalizado con compromiso funcional y estético, conjugado con retraso en la erupción de dientes permanentes. Tras diagnóstico se plantea la intervención multidisciplinaria, integrando áreas como periodoncia y odontopediatría; los procedimientos ejecutados permitieron mejorar la calidad de vida desde el punto de vista funcional y estético. Conclusión: La fibromatosis gingival hereditaria no solo desencadena alteración en proceso eruptivo dental, sino también alteraciones estéticas y emocionales en el paciente que la padece. Los procedimientos perio-dontales realizados permitieron de forma categórica la mejora de la estética, función y estado psicológico del paciente.

Ultrasound image and pathological features analysis of invasive fibromatosis / 肿瘤研究与临床

Objective:To investigate the ultrasound image and pathological features of invasive fibromatosis, and to provide a basis for the diagnosis of invasive fibromatosis.Methods:The clinicopathological data of 22 patients pathologically diagnosed with invasive fibromatosis from January 2016 to March 2019 in Shanxi Provincial Cancer Hospital were retrospectively analyzed. The clinical, ultrasound and pathological data were also summarized.Results:Ultrasound images of invasive fibromatosis showed irregular morphology, unclear boundaries, uneven echo, spot-like or strip-shaped blood flow signals. The coincidence rate of ultrasound diagnosis was 59.1% (13/22), 3 cases were misdiagnosed as fibrous, fat and other sarcomas, 4 cases were misdiagnosed as nerve-derived tumors, 1 case was misdiagnosed as nodular fasciitis, and 1 case was misdiagnosed as gastrointestinal stromal tumor. The pathological characteristics of invasive fibromatosis were more typical, and the positive expression rate of vimentin and β-catenin in immunohistochemistry was 100.0% (22/22); the coincidence rate of preoperative pathological diagnosis of puncture was 78.6% (11/14), 1 case was misdiagnosed as nerve fiber tumor, 1 case was misdiagnosed as low-grade fibromyxoid sarcoma, and 1 case was misdiagnosed as nodular fasciitis.Conclusion:Invasive fibromatosis has a certain specificity in ultrasound and pathological diagnosis, which can be diagnosed and differentially diagnosed according to the ultrasound image and pathological characteristics.

A case report of ureteral stenosis secondary to pelvic aggressive fibromatosis / 中华泌尿外科杂志

Aggressive fibromatosis(AF)is a rare soft tissue tumor clinically that presents with local aggressive growth, are prone to relapse, but rarely metastasize to distant sites. It occurs in the limbs, trunk, mesentery, etc., but is rare in the pelvis or around the urinary system. This article reported a case of ureteral stenosis secondary to pelvic AF. The surgical treatment was effective.

Multimodal ultrasonic diagnosis of breast fibromatosis originating from breast parenchyma / 中国医师杂志

Objective:To analyze the imaging characteristics of invasive fibromatosis from breast parenchyma, and to explore the clinical value of multimodal ultrasound.Methods:The two-dimensional, color Doppler and elastic imaging sonographic manifestations and pathological features of 12 cases of breast invasive fibromatosis included in the Affiliated Hospital of Jining Medical College from October 2015 to October 2020 were studied retrospectively.Results:Two dimensional ultrasound showed that 12 cases of breast invasive fibromatosis grew in parallel, with different sizes, unclear boundary and no complete capsule. The edge morphology of 7 cases (7/12) showed crab foot like changes; The tumor showed solid heterogeneous hypoechoic, punctate hyperechoic in 3 cases (3/12), and echo attenuation behind the tumor in 3 cases (3/12); The blood flow in the tumor was mainly grade 1-2 (9/12). Twelve tumors were examined quantitatively by virtual touch tissue quantifification. The shear wave velocity was (3.08±0.75)m/s. The diagnostic accuracy of multimodal ultrasound in invasive fibromatosis of breast (10/12) was significantly higher than that of conventional ultrasound (3/12, χ 2=8.224, P=0.004). The gross manifestation of the tumor: the section was gray or gray yellow, with unclear boundary and no capsule; Microscopic findings: fascicular fibroblasts and myofibroblasts proliferated, accompanied by varying degrees of glassy degeneration, acellular atypia, nuclear division and necrosis. Conclusions:Conventional ultrasound is difficult to distinguish invasive fibromatosis and malignant tumor of breast, and its ultrasonic manifestations are closely related to pathological features. The combined application of multimodal ultrasound can significantly improve the diagnostic coincidence rate of the disease and has high clinical application value.

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.

Extra-abdominal aggressive fibromatosis treated with meloxicam and sorafenib: An encouraging option

Objective: Aggressive fibromatosis (AF), also called desmoid tumor, is an uncommon soft-tissue neoplasm. Characteristically, it expands locally without metastatic potential. However, its tendency of relapse after curative resections has been well documented. Effective treatment options have been limited and there is a clear need for novel treatment strategies. Methods: We used combination therapy including multikinase tyrosine kinase inhibitor for treating AF. Results: We presented a case of an extra-abdominal AF who was successfully treated with meloxicam and sorafenib combination in our clinic. She tolerated this therapy well with only mild side effects. To our knowledge, this is the first case report of an extra-abdominal AF with a major partial response to sorafenib and meloxicam combination. Conclusion: Due to the favorable toxicity profile of sorafenib and meloxicam, this combination might be an effective treatment option for patients with locally aggressive and inoperable AF.

Management of the patient with fibromatosis of the left anterior chest wall

Desmoid fibromatosis is a rare but locally aggressive tumour comprised of myofibroblasts. It is histologically benign but can behave aggressively. They do not have the ability to metastasize but can cause significant morbidity and mortality by local invasion. These tumours may occur anywhere on the body, but are commonly found on the abdominal wall and within the intestinal mesentery. Mutations in either the β-catenin or the adenomatous polyposis coli (APC) genes are usually the cause for the development of desmoid tumours with the former comprising the sporadic development of tumours and the latter being associated with familial adenomatous polyposis syndrome. Surgical resection with histologically negative margins has been the cornerstone of therapy for this disease, but this paradigm has begun to shift. It is now common to accept a microscopically positive margin after resection as recurrence rates may not be significantly affected. This case report intends to describe the clinical, diagnostic and pathologic features of a post-traumatic fibromatosis involving left side chest wall in a 45 years old female and causing worsening pain. The surgical management was successfully undertaken.

Desmoid-type fibromatosis in children. Clinical features, treatment response, and long-term follow-up / Fibromatosis tipo desmoide en niños. Características, respuesta al tratamiento y seguimiento a largo plazo

Abstract Desmoid-type fibromatosis (DF) is a tumor with high local recurrence rate. Sixteen patients (18 desmoid tumors) were retrospectively evaluated. Initial surgery was performed in 13/18 tumors, with complete resection in 6 (one with free margin and five with microscopic residual disease); 10/13 had local relapse. Eleven patients with 13 tumors underwent treatment with methotrexate-vinblastine. The response rate to chemotherapy was 54%, and up to 81% if stable disease cases were included. The best response was partial remission. Only 2 had grade 4 toxicity. Twelve of 15 patients had sequelae. In 8 cases sequelae were directly related to the surgical intervention and 3 of them were severe. The 5-year progression-free survival and overall survival were 30% and 93.3%, respectively. DF has a high local relapse rate, regardless of surgical margin involvement. Low dose chemotherapy achieved stable disease and even remission of the lesions with low toxicity. The high rate of sequelae is probably related to the initial surgery performed in the majority of patients and may be avoided by the use of neoadjuvant low dose chemotherapy.

Resumen La fibromatosis tipo desmoide (FD) es un tumor con alta tasa de recurrencia local. Dieciséis pacientes (18 tumores desmoides) fueron evaluados retrospectivamente. La cirugía inicial se realizó en 13/18 tumores, con resección completa en 6 (uno con margen libre y cinco con margen microscópicamente comprometido); 10/13 tuvieron recaída local. Once pacientes con 13 tumores recibieron tratamiento con metotrexato/vinblastina. La tasa de respuesta a la quimioterapia fue del 54% y de hasta el 81% si se incluyen los casos que lograron enfermedad estable. La mejor respuesta fue remisión parcial. Solo 2 tuvieron toxicidad grado 4. Doce de 15 pacientes tuvieron secuelas. En 8 casos, las secuelas estuvieron directamente relacionadas con la intervención quirúrgica y 3 de ellas fueron graves. La sobrevida libre de progresión a 5 años y la supervivencia global fueron del 30% y del 93.3%, respectivamente. La FD tiene una alta tasa de recaída local, independientemente del margen quirúrgico. Dosis bajas de quimioterapia lograron una enfermedad estable e incluso la remisión de las lesiones, con baja toxicidad. La alta tasa de secuelas probablemente esté relacionada con la cirugía inicial realizada en la mayoría de los pacientes y podría evitarse mediante el uso de quimioterapia neoadyuvante en dosis bajas, como sugieren las estrategias actuales de tratamiento.