RESUMO

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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A 68-year-old man, without a family history of cancer, was treated for primary cutaneous melanoma of the scalp. Two years later, a right lateral cervical lymph recurrence was observed and he was treated with lymphadenectomy and adjuvant nivolumab for 1 year. Four years from the initial melanoma diagnosis, a computer tomography scan showed a solid nodular lesion of 26 × 40 × 75 mm inside the previously known inguinoscrotal hernia. A new recurrence of melanoma was the most probable diagnosis and a right inguinal hernioplasty was performed. Notably, the histopathological examination revealed a mesenteric fibromatosis with the typical immunohistochemical pattern (strong nuclear staining of ß-catenin). Interestingly, this represents the first case of a patient with a mesenteric desmoid tumour presenting as an inguinal hernia masking a cutaneous melanoma recurrence.

RESUMO

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.

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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

Assuntos

RESUMO

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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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.

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 libr e 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.

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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.

Assuntos

RESUMO

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.

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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.

RESUMO

Aggressive fibromatosis comprises connective tissue tumours that represent 0.03% of all bodily neoplasms, occurring more often in the abdominal wall, mesentery, and extremities; its location in the breast constitutes a very infrequent type of lesion. Its pathogenesis is diverse and its relationship with augmentation mastoplasty is still unclear. Four cases of aggressive breast fibromatosis following augmentation mastoplasty are reported in this article.

RESUMO

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.

RESUMO

Los tumores desmoides son infrecuentes, presentan crecimiento localmente agresivo, no suelen dar metástasis pero con frecuencia desarrollan un crecimiento infiltrante que amenaza la vida y puede conducir a una gran morbi-mortalidad. Representan el 0.03% de todos los tumores. En base a la experiencia, los expertos recomiendan la administración de dosis altas de tamoxifeno y sulindac como tratamiento primario para los pacientes con tumores desmoides asociados a poliposis adenomatosa familiar (PAF). Sin embargo, el mejor enfoque después de la intervención quirúrgica para pacientes con tumores desmoides esporádicos, aún no se ha determinado (AU)

Desmoid tumors are infrequent, locally aggressive growth, do not usually metastasize but often develop an infiltrating growth that threatens life and can lead to great morbidity and mortality. They represent 0.03% of all tumors. Based on experience, experts recommend the administration of high doses of tamoxifen and sulindac as a primary treatment for patients with desmoid tumors associated with familial adenomatous polyposis (FAP). However, the best approach after surgical intervention for patients with sporadic desmoid tumors has yet to be determined (AU)

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INTRODUCCIÓN: la fibromatosis abarca un amplio espectro de lesiones fibrosas proliferativas con apariencia microscópica similar, que afectan a diferentes localizaciones anatómicas. Se agrupan dentro de los tumores fibrosos benignos en niños, y poseen un potencial intermedio entre las lesiones benignas y malignas. OBJETIVO: describir las características clínicas y el tratamiento de los pacientes con diagnóstico de fibromatosis agresiva tratados en el servicio de Oncopediatría en el Instituto Nacional de Oncología y Radiobiología. MÉTODOS: se realizó un estudio descriptivo, longitudinal y retrospectivo desde el 1º de enero de 2003 al 31 de diciembre de 2013, según variables demográficas, clínicas y terapéuticas. Se identificaron los pacientes a partir de las bases de datos del registro hospitalario del Instituto Nacional de Oncología y Radiobiología. Se seleccionaron todos los pacientes con diagnóstico histológico de esta enfermedad. RESULTADOS: se identificaron 9 pacientes con predominio del sexo masculino (56 %), con un rango de edades entre 0 y 9 años; y la localización más frecuente fue cabeza y cuello. Las modalidades de tratamiento utilizadas fueron: cirugía en 100 % de los casos, y quimioterapia y radioterapia concurrente (33 %). En estos momentos se cuenta con 100 % de supervivencia. CONCLUSIONES: la fibromatosis agresiva son lesiones benignas muy raras, agresivas localmente y sin potencial metastásico. Su tratamiento fundamental es la cirugía, sin embargo, deben incluirse otras modalidades terapéuticas para lograr el control local de la enfermedad.

INTRODUCTION: fibromatosis covers a wide spectrum of proliferative fiber lesions with similar microscopic appearance that affect various anatomical locations. These lesions are grouped into the benign fiber tumors in children and have an intermediate potential between the benign and the malignant lesions. OBJECTIVE: to describe the clinical characteristics of and the treatment prescribed for patients with diagnosis of aggressive fibromatosis, who were treated at the oncologic pediatrics service of the National Institute of Oncology and Radiobiology. METHODS: retrospective, longitudinal and descriptive study conducted from January 1st, 2003 through December 31st 2013 based on demographic, clinical and therapeutic variables. The patients were identified according to databases from the hospital register of the National Institute of Oncology and Radiobiology. All the patients with histological diagnosis for the disease participated in the study. RESULTS: nine patients were detected with predominance of males (56 %), age ranging from 0 to 9 years and the most common location were head and neck. The treatment modalities included surgery in 100 % of cases and concurrent chemotherapy and radiotherapy (33 %). Currently, the survival rate is 100 %. CONCLUSIONS: aggressive fibromatosis are benign lesions that are very unusual, locally aggressive and with no metastatic potential. The main treatment is surgery; but other therapeutic variants should be included to achieve the local management of disease.

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The gingival fibromatosis is a slow and progressive benign proliferation, which affects the gingival tissues. It may present a genetic inheritance and association with some syndromes. There are conservative and radical treatments, ranging from hygiene care to bloc resection of the affected bone. This case scenario is a 07 year-old child, who presented a nodular unilateral hyperplastic lesion in the right mandible, with sessile base and approximately 5 cm in its largest diameter. The patient presented difficulty of lip closure and slight swelling in the right area of the face. The tomographic image showed infiltration in buccal and lingual cortical of right mandible and tooth displacement. After lesion removal, the histopathologic diagnosis of fibromatosis was confirmed, with no relapse after 20 months of follow-up.

A Fibromatose Gengival é uma proliferação benigna, lenta e progressiva, que afeta os tecidos gengivais. Pode apresentar herança genética e associação à uma série de síndromes. Existem tratamentos conservadores e radicais, desde cuidados com higiene à ressecção em bloco do tecido ósseo afetado. Este é o caso clínico de uma criança, que apresentou lesão hiperplásica unilateral em mandíbula, com deslocamento dentário. Após remoção, o diagnóstico de hiperplasia gengival foi confirmado e não há recidiva da lesão até o momento.

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Se presentó un caso de un fibroma desmoplásico en una adolescente de 14 años de edad. Se realizó estudio radiográfico que reveló lesión osteolítica diafisometafisaria extensa en fémur derecho. El objetivo fue mostrar una tumoración con poca frecuencia estadística en la bibliografía nacional e internacional y mostrar el proceder y tratamiento definitivo. El estudio histológico corroboró presencia de abundantes fibras colágenas, que formaban bandas hialinizadas separadas por escasos fibroblastos de tamaño pequeño sin actividad mitótica. Se realizó curetaje de la lesión con inserción de cemento quirúrgico. La paciente tuvo una evolución posquirúrgica satisfactoria con incorporación inmediata al medio social

This is the case of a desmoplastic fibroma present in an adolescent aged 14. A radiographic study was conducted showing an extensive osteolytic diaphysis and metaphyseal lesion in right femur. The objective of present paper was to present a tumor with little statistic frequency in the national and international bibliography and also to show the procedure and definitive treatment. The histological study corroborates the presence of abundant collagen fibers forming hyalinization strips separated by scarce small fibroblasts without mitosis activity. Curettage of lesion was performed with insertion of surgical cement. Patient had a satisfactory postsurgical course with an immediate incorporation to social environment

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La fibromatosis constituye una entidad pseudotumoral poco frecuente, cuya presentación en el maxilar es excepcional. Se caracteriza por una gran agresividad local con tendencia a la recurrencia y por no metastatizar. Puede involucrar hueso o el tejido blando. Se presenta un paciente masculino de 2 años de edad, que acude a consulta con aumento de volumen en región mandibular derecha, de 4 meses de evolución, acompañado de dolor a la presión local. Radiográficamente, se observa amplia zona osteolítica a nivel del cuerpo mandibular que expande la cortical, la adelgaza y en diferentes zonas la destruye totalmente. Se realiza tratamiento quirúrgico bajo anestesia general. El diagnóstico se correspondió con una fibromatosis de la mandíbula. Después de 5 meses se ha presentado una evolución satisfactoria sin recidiva.

The fibromatosis constitutes some entities not very frequent pseudotumorals whose presentation in the maxillary one is exceptional. They are characterized by a great local aggressiveness with tendency to the recurrence and for none metastasize it can involve bone or the soft tissue. A 2 year-old masculine patient is presented that goes to consultation with increase of volume in region right mandible, of four months of evolution, accompanied by pain to the local pressure. Radiography is observed wide area osteolysis at level of the body mandible that expands the cortical one, it loses weight it and in different areas it destroys it totally. He is carried out surgical treatment under it general anesthetizes. Diagnosis, Fibromatosis of the jaw. After five months you evolution has presented a satisfactory evolution without relapse.