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Rev. colomb. cir ; 39(2): 339-347, 20240220. fig
Article in Spanish | LILACS | ID: biblio-1532734


Introducción. El cáncer de riñón es la undécima neoplasia maligna más común en los Estados Unidos Mexicanos. El carcinoma de células claras de riñón (CCR) es considerado la estirpe más frecuente y representa el 2-3 % de todos los cánceres a nivel mundial. En el contexto de la enfermedad metastásica, por lo general se identifica un tumor renal primario y las metástasis se localizan en pulmón, hueso, hígado, cerebro y, raramente, en tejidos blandos. Los pacientes con metástasis a tejidos blandos no tienen síntomas en las etapas iniciales y generalmente se identifican sólo cuando las lesiones aumentan de tamaño o durante el estudio de la pieza de resección quirúrgica. Caso clínico. Se presenta el caso de una paciente en la séptima década de la vida, con una metástasis en tejidos blandos de la región sacra, de 10 años de evolución posterior a una nefrectomía secundario a CCR. Resultados. Hallazgos clínicos e imagenológicos de un tumor bien delimitado. Se realizó resección quirúrgica de la lesión, bajo anestesia regional, con extirpación completa. Conclusión. Se recomienda que los pacientes con un sitio metastásico resecable y solitario sean llevados a resección quirúrgica con márgenes libres, como fue el caso de nuestra paciente, por su fácil acceso y ser una lesión única. En el CCR, además de su tratamiento quirúrgico inicial, es indispensable una estrecha vigilancia con examen físico e imágenes transversales, para detectar la presencia de metástasis y con ello evitar tratamientos tardíos.

Introduction. Kidney cancer is the eleventh most common malignancy in the United States of Mexico. Carcinoma renal cell (CRC) is considered the most frequent type and represents 2-3% of all cancers worldwide. In the setting of metastatic disease, a primary renal tumor is usually identified, and metastases are located in the lung, bone, liver, brain, and rarely in soft tissue. Patients with soft tissue metastases do not have symptoms in the initial stages and are generally found only when the lesions increase in size or during the study of the surgical resection piece. Clinical case. In this case, we report a female patient in the seventh decade of life with a soft tissue metastasis located in the sacral region, 10 years after a nephrectomy secondary to CRC. Results. Clinical and radiological findings of a well-defined tumor. Surgical resection of the lesion is performed under regional anesthesia with complete excision. Conclusions. It is recommended that patients with a resectable and solitary metastatic site be candidates for surgical resection with free margins, as was the case with our patient due to its easy access and single lesion. In CRC, in addition to its initial surgical treatment, close surveillance with physical examination and cross-sectional images is essential to monitor the presence of metastases and thus avoid late treatments.

Humans , Carcinoma, Renal Cell , Kidney Neoplasms , Neoplasm Seeding , Soft Tissue Neoplasms , Diagnosis, Differential , Neoplasm Metastasis
Chinese Journal of Pathology ; (12): 64-70, 2024.
Article in Chinese | WPRIM | ID: wpr-1012426


Objective: To investigate the clinicopathological features, immunophenotype, diagnosis and differential diagnosis of SRF-rearranged cellular perivascular myoid tumor. Methods: Two cases of SRF-rearranged cellular perivascular myoid tumor diagnosed in the Department of Pathology, Fudan University Shanghai Cancer Center from October 2021 to March 2022 were collected. Immunohistochemical staining, fluorescence in-situ hybridization (FISH) and next-generation sequencing (NGS) were performed, and the literature was reviewed. Results: Case 1, a 3-month-old boy presented with a painless tumor of the scalp, measuring about 2 cm in diameter. Case 2, a 3-year-old girl complained with a painless tumor of the knee, measuring approximately 1.5 cm in diameter. Microscopically, the tumor had a clear boundary and showed multinodular growth. The tumor was mainly composed of spindle cells arranged in long intersecting fascicles associated with thin, slit-like or branching ectatic vessels, focally forming hemangiopericytoma-like appearance. The tumor cells were abundant, but there was no obvious atypia. Mitotic figures (3-4/10 HPF) were noted. H-caldesmon and SMA were positive in both cases. Case 1 showed diffuse and strong positivity for Desmin, and focally for CKpan. Ki-67 proliferation index was 20% and 30%, respectively. FISH displayed NCOA2 gene translocation in case 1 and the RELA gene translocation in case 2. NGS detected the SRF-NCOA2 gene fusion in case 1 and the SRF-RELA gene fusion in case 2. Both patients underwent local excisions. During the follow-up of 5-14 months, case 1 had no local recurrence, while case 2 developed local recurrence 1 year post operatively. Conclusions: SRF-rearranged cellular perivascular myoid tumor is a novel variant of perivascular cell tumor, which tends to occur in children and adolescents. The tumor forms a broad morphologic spectrum ranging from a pericytic pattern to a myoid pattern, and include hybrid tumors with a mixture of pericytic and myoid patterns. Due to its diffuse hypercellularity and increased mitotic figures and smooth muscle-like immunophenotype, the tumor is easy to be misdiagnosed as myogenic sarcomas. The tumor usually pursues a benign clinical course and rare cases may locally recur.

Child, Preschool , Female , Humans , Infant , Male , Biomarkers, Tumor/analysis , Calmodulin-Binding Proteins , China , Hemangiopericytoma/pathology , Sarcoma/pathology , Soft Tissue Neoplasms/pathology
Chinese Journal of Pathology ; (12): 12-15, 2024.
Article in Chinese | WPRIM | ID: wpr-1012417


The 5th edition of the World Health Organization classification of hematolymphoid tumors (WHO Blue Book) is soon to be published. Significant revisions have been made in the chapters on histiocytic/dendritic cell neoplasms and stroma-derived neoplasms of lymphoid tissues, leading to the reclassification and renaming of specific diseases. This article provides a concise interpretation and summary of these updates, highlighting the differences from the fourth edition. Pertinent changes from clinical pathological diagnosis to treatment and prognosis are explored, with an emphasis on recent advancements in molecular genetics. Newly introduced disease classifications are discussed, and the section on follicular dendritic cell sarcoma contributed by the author is detailed to assist readers in quickly understanding and assimilating the new classification standards.

Humans , Lymphoid Tissue/pathology , Soft Tissue Neoplasms/pathology , Dendritic Cell Sarcoma, Follicular/pathology , Dendritic Cells/pathology , World Health Organization
Arch. argent. pediatr ; 121(6): e202202853, dic. 2023. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1518733


Se informa de un lipoblastoma perineal en una niña de 5 años localizado en el labio mayor derecho. La lesión aumentó gradualmente en 6 meses. En la ecografía y la resonancia magnética (RM), se observó un tumor heterogéneo sólido limitado con componente graso. Tras su extirpación quirúrgica, el estudio anatomopatológico confirmó un lipoblastoma. El lipoblastoma es un tumor mesenquimatoso benigno poco frecuente de la lactancia y la primera infancia. Los síntomas varían en función de la localización; pueden observarse signos de compresión de los órganos adyacentes. Este tipo de tumores inusuales de los tejidos blandos son más frecuentes en menores de 3 años. Los lipoblastomas se localizan predominantemente en las extremidades, pero también pueden encontrarse en la cabeza y el cuello, el tronco, el mediastino, el riñón, el mesenterio, el retroperitoneo y el perineo. Se debe sospechar su presencia en función de los hallazgos de la ecografía y la RM.

We reported a perineal lipoblastoma in a 5-year-old girl located in the right labia mayor. The lesion gradually increased within 6 months. Ultrasound and magnetic resonance imaging (MRI) showed a limited solid heterogenous tumor with fatty component. After it had been surgically removed, the anatomopathological examination confirmed that it was a lipoblastoma. Lipoblastoma is a rare benign mesenchymal tumor of infancy and early childhood. Symptoms vary depending on localization; signs of compression of adjacent organs may be seen. This type of unusual soft tissue tumors occurred most often in under 3 years old. The localization of lipoblastomas is predominantly in the extremities but may be also found in other sites including the head and neck, trunk, mediastinum, kidney, mesentery, retropritoneum and perineum. The suspicion should be considered according to ultrasound and MRI findings.

Humans , Female , Child, Preschool , Soft Tissue Neoplasms , Lipoblastoma/surgery , Lipoblastoma/diagnosis , Lipoblastoma/pathology , Magnetic Resonance Imaging , Kidney/pathology , Neck/pathology
Rev. Odontol. Araçatuba (Impr.) ; 44(1): 17-21, jan.-abr. 2023.
Article in English | BBO, LILACS | ID: biblio-1427816


Os hemangiomas são neoplasias benignas dos tecidos moles. São lesões caracterizadas pela proliferação de células endoteliais. Objetivos: O objetivo deste trabalho é demonstrar por meio de uma revisão da literatura os principais hemangiomas de interesse odontológico e suas características clínicas e abordagens terapêuticas. Revisão de literatura: O estudo mostrou prevalência de até 6% na população geral, sendo o tumor mais comum na infância. Essas lesões apresentam rápido crescimento pós-natal, que pode levar meses a dois anos em média, mas geralmente após esse período ocorre sua involução. O diagnóstico é comumente baseado nas características clínicas e na história do paciente. É importante entender que o estudo histopatológico pode ser necessário nos casos em que o diagnóstico é incerto, para diferenciá-lo de outras neoplasias graves. Destacam-se as principais complicações relacionadas a lesões, ulcerações e hemorragias, além de infecções secundárias que podem causar alto índice de morbidade. Assim, é fundamental que o dentista reconheça essas patologias e tenha capacidade para tratá-las. Considerações finais: Foi possível observar que os hemangiomas são manifestações vasculares incomuns para o cirurgião-dentista, porém o profissional deve saber diagnosticá-los e tratá-los. Dentre as áreas acometidas, essas lesões são frequentes na cavidade oral e o tratamento consiste em acompanhamento com intervenções conservadoras(AU)

Hemangiomas are benign soft tissue neoplasms. These are lesions characterized by the proliferation of endothelial cells. Objectives: The objective of this work is to demonstrate through a literature review about the main hemangiomas of dental interest and clinical characteristics and therapeutic approaches. Literature review: The study showed a prevalence of up to 6% in the general population, being the most common tumor in childhood. These lesions presents a rapid postnatal growth, which may take months until two years on average, but usually after this period their involution occurs. The diagnosis is commonly based on clinical characteristics and patient's history. It is important to understand that the histopathological study may be necessary in cases that the diagnostic is uncertainty, in order to differentiate it from other serious neoplasms. Main complications related to injuries, ulceration and hemorrhage can be highlighted, in addition to secondary infections that can cause a high rate of morbidity. Thus, it is essential that dentists recognize such pathologies and be able to treat them. Final considerations: Was possible do observe that hemangiomas are uncommon vascular manifestations for the dental surgeon, however, the professional must know to diagnose and treat them. Among the affected areas, these lesions are frequently seen in the oral cavity and the treatment consists of following up with conservative interventions(AU)

Soft Tissue Neoplasms , Mouth Neoplasms , Hemangioma , Hemangioma/diagnosis , Hemangioma/therapy , Cell Proliferation , Mouth/injuries , Neoplasms
Chinese Journal of Pathology ; (12): 995-1000, 2023.
Article in Chinese | WPRIM | ID: wpr-1012352


Objective: To investigate the clinical, imaging, histological, and molecular features and the differential diagnosis of radiation-associated sarcomas of bone and soft tissue. Methods: Forty-six cases of radiation-associated sarcomas of the bone and soft tissue in Beijing Jishuitan Hospital from January 2010 to January 2022 were retrospectively analyzed; and the imaging, histological features and immunophenotype were examined. Results: There were 33 females and 13 males, aged from 18 to 74 years, with a mean of 52 years. The most common site of radiation-associated sarcomas were the limbs and spine (15 cases), followed by the chest (9 cases). The primary diseases included epithelial tumors (15 breast cancer, 6 cervical cancer, and 5 bowel cancer), hematolymphoid tumors, bone and soft tissue tumors and infectious lesions. The latent period of radiation-associated sarcomas ranged from 2-22 years, with an average of 11.6 years. Histopathologically, the morphology was divergent from the primary tumor. The most common malignant tumor type was undifferentiated sarcoma (22 cases), followed by osteosarcoma (16 cases). The immunophenotype of radiation-related sarcoma was almost the same as the corresponding soft tissue sarcoma. Conclusions: Radiation-induced sarcoma has a wide range of primary tumor types and its imaging, morphology and immunohistochemical features are similar to those of the primary sarcoma of bone and soft tissue. Clinical correlation is often recommended for the differential diagnosis.

Male , Female , Humans , Retrospective Studies , Sarcoma/pathology , Osteosarcoma/diagnostic imaging , Soft Tissue Neoplasms/pathology , Bone Neoplasms/pathology
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 989-992, 2023.
Article in Chinese | WPRIM | ID: wpr-1011086


Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal soft tissue tumor characterized by borderline or low-grade malignancy. It is rare childhood tumor with an average age of onset of 10 years old. It is even rarer in infants and toddlers, and the etiology and pathogenesis of this tumor are still unclear. The clinical presentation of IMT is non-specific and are related to the location of the tumor. When the tumor compresses adjacent organs, it can cause pain and functional impairment. According to the current literature, IMT is most commonly found in the digestive and respiratory systems, but also occasionally occur in the genitourinary system, head and neck, and limbs. At present, there have been no reports of nasopharyngeal IMT involving nasal cavity of infants and toddlers at home and abroad.This article reports a case of a massive inflammatory myofibroblastic tumor involving the nasal cavity and nasopharynx in an infant. Plasma-assisted minimally invasive surgery was performed through multiple surgical approaches and achieved satisfactory therapeutic results. This case report may provide valuable reference for the treatment of similar diseases.

Humans , Infant , Granuloma, Plasma Cell/pathology , Nasopharynx/pathology , Neoplasms, Muscle Tissue , Soft Tissue Neoplasms
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 972-976, 2023.
Article in Chinese | WPRIM | ID: wpr-1011082


Infantile hemangiomas are relatively common soft tissue tumors in infants and young children, with a prevalence of about 4.5% in full-term newborns. Subglottic Hemangioma (SGH) is a relatively rare type of hemangioma, and its special location often causes respiratory distress and potentially life-threatening conditions in infants. Therefore, it is necessary for clinicians to make an accurate diagnosis and formulate a detailed treatment plan based on the clinical manifestations, the auxiliary examinations, the medical history and the vital signs evaluation of patients.This review describes the pathophysiological mechanism of infantile hemangioma and provides a detailed discussion on commonly used treatment methods in detail.

Child, Preschool , Humans , Infant , Infant, Newborn , Hemangioma/diagnosis , Hemangioma, Capillary , Laryngeal Neoplasms/surgery , Larynx/pathology , Soft Tissue Neoplasms
Chinese Journal of Pathology ; (12): 19-24, 2023.
Article in Chinese | WPRIM | ID: wpr-970119


Objective: To investigate the clinicopathological features, immunophenotypes and molecular genetics of EWSR1-SMAD3 positive fibroblastic tumor (ESFT) with an emphasis on differential diagnosis. Methods: The clinicopathological data, immunohistochemical profiles and molecular profiles of 3 ESFT cases diagnosed at the Department of Pathology, Fudan University Shanghai Cancer Center from 2018 to 2021were analyzed. The related literature was also reviewed. Results: There were two males and one female. The patients were 24, 12 and 36 years old, respectively. All three tumors occurred in the subcutis of the foot with the disease duration of 6 months to 2 years. The tumors were presented with a slowly growing mass or nodule, accompanied with pain in 1 patient. The tumors ranged in size from 0.1 to 1.6 cm (mean, 1.0 cm). Microscopically, the tumors were located in the subcutaneous tissue with a nodular or plexiform growth pattern. They were composed of cellular fascicles of bland spindle cells with elongated nuclei and fine chromatin. One of the tumors infiltrated into adjacent adipose tissue. There was no nuclear atypia or mitotic activities. All three tumors showed prominent stromal hyalinization with zonal pattern present in one case. Focal punctate calcification was noted in two cases. The immunohistochemical studies showed that tumor cells were diffusely positive for ERG and negative for CD31 and CD34, with Ki-67 index less than 2%. Fluorescence in situ hybridization on the two tested cases identified EWSR1 gene rearrangement. The next generation sequencing analysis demonstrated EWSR1-SMAD3 fusion in all three cases. During the follow up, one patient developed local recurrence 24 months after the surgery. Conclusions: ESFT is a benign fibroblastic neoplasm and has a predilection for the foot, characterized by ERG immunoreactivity and EWSR1-SMAD3 fusion. Local recurrence might occur when incompletely excised. Familiarity with its clinicopathological features is helpful in distinguishing it from other spindle cell neoplasms that tend to occur at acral sites.

Adult , Child , Female , Humans , Male , Biomarkers, Tumor/analysis , China , In Situ Hybridization, Fluorescence , Neoplasms, Fibrous Tissue/pathology , RNA-Binding Protein EWS/genetics , Smad3 Protein/genetics , Soft Tissue Neoplasms/surgery
Article in Spanish | LILACS, BINACIS | ID: biblio-1444936


La escápula alada suele producirse por lesiones neurológicas tanto del nervio espinal como del nervio torácico largo. La aparición a causa de un tumor ventral de la escápula dificulta su diagnóstico inicial. Presentamos el caso de una mujer joven, con limitación para la rotación externa del hombro, sin antecedentes traumáticos conocidos, evolución progresiva e imagen compatible con una lesión de partes blandas dependiente de la aponeurosis del músculo subescapular confirmada por biopsia como un tumor desmoide. Aunque se trata de un tumor benigno y autolimitado, tiene una inquietante alta tasa de recidivas después de la resección, por lo que se dispone de numerosos tratamientos y muchos grupos optan por hacer un seguimiento médico estrecho de los factores pronósticos y las limitaciones funcionales del paciente, con lo que obtienen resultados satisfactorios y, en algunas series, superiores a los del tratamiento quirúrgico. Nivel de Evidencia: IV

Winged scapula is usually caused by neurological injuries to both the spinal nerve and the long thoracic nerve. Its presence as a result of a ventral scapular tumor makes initial diagnosis difficult. We present the case of a young woman with limited external shoulder rotation, no known traumatic history, and images consistent with a soft tissue lesion dependent on subscapular muscle aponeurosis, which was confirmed by biopsy as a desmoid tumor. Although it is a benign, self-limiting tumor, it has an alarmingly high rate of relapse after resection, so many treatments are available, and many teams choose to closely monitor the patient's prognostic factors and functional limitations, obtaining satisfactory outcomes and, in some series, superior to those of surgical treatment. Level of Evidence: IV

Adult , Scapula , Shoulder , Soft Tissue Neoplasms , Fibroma, Desmoplastic
Article in Spanish | LILACS, BINACIS | ID: biblio-1523939


Objetivo: Determinar el grado de agresividad tumoral mediante técnicas de inteligencia artificial utilizando imágenes de resonancia magnética de sarcomas con grado histológico comprobado. Materiales y Métodos: Dos cohortes retrospectivas independientes de pacientes con sarcomas de partes blandas. Para cada paciente de las dos cohortes se adquirieron tres tipos de secuencias de imágenes como indican los protocolos clínicos: potenciadas en T1, en T2 con supresión grasa (T2FS) y STIR. A fin de desarrollar el modelo de inteligencia artificial, se utilizaron 134 imágenes, tanto las de alto grado como las de bajo grado, en T1 y T2 tomando la imagen más representativa del tumor en cualquier corte. Esto se traduce en 36 millones de píxeles que serán analizados por el programa Landing AI. Resultados: La precisión promedio del modelo fue del 84,3% y la sensibilidad, del 73,3%, con un umbral de confianza de 0,66, lo que demuestra inicialmente que se obtuvo un modelo de buena calidad para predecir con imágenes de resonancia magnética el grado de agresividad de un sarcoma de partes blandas antes de la biopsia. Conclusiones: Se presenta un enfoque novedoso para abordar un tipo de enfermedad infrecuente usando técnicas de inteligencia artificial para determinar el grado tumoral en imágenes de resonancia magnética. Según los resultados de nuestro modelo, se lo puede considerar como una segunda opinión experta al realizar los estudios por imágenes antes de la biopsia. Nivel de Evidencia: III

Objective: To determine the degree of tumor aggressiveness by means of artificial intelligence techniques using magnetic resonance images of sarcomas with proven histological grade. Materials and Methods: Two independent cohorts of patients with soft tissue sarcomas (STS) were retrospectively collected. For each patient in the two cohorts, three types of imaging sequences were acquired as indicated by the clinical protocols: T1-weighted (T1), fat-suppressed T2-weighted (FST2) and STIR. For the development of the artificial intelligence model, 134 images were used, both high-grade and low-grade T1 and T2 images, taking the most representative image of the tumor at any slice. This translated into more than 36 million pixels that were analyzed by the Landing AI program. Results: To determine the degree of tumor aggressiveness by means of artificial intelligence techniques using magnetic resonance The model's average accuracy was 84.3%, and its sensitivity was 73.3%, with a confidence threshold of 0.66, indicating that a good quality model was generated for predicting the grade of aggressiveness of an STS prior to biopsy using MRI scans. Conclusions: A novel approach is presented to address a rare pathology using artificial intelligence techniques to determine the tumor grade based on nuclear magnetic resonance images. Based on the results of our model, it can be considered as a second expert opinion when performing imaging studies prior to biopsy. Level of Evidence: III

Sarcoma , Soft Tissue Neoplasms , Artificial Intelligence , Magnetic Resonance Imaging
Gac. méd. espirit ; 24(3): [10], dic. 2022.
Article in Spanish | LILACS | ID: biblio-1440158


Fundamento: Los angiolipomas son tumores benignos que se presentan en adultos con una localización, preferentemente, en el espacio epidural posterior torácico. Objetivo: Presentar un caso que debutó con un traumatismo axial lumbosacro donde se evidenció una localización poco común de la lesión y sin relación con las estructuras del canal raquídeo. Presentación del caso: Hombre de 25 años que se cayó y debido a ello se le hizo un traumatismo directo en la región sacrococcígea con dolor y aumento de volumen regional, asociado a parestesias glúteas. Los estudios radiológicos evidenciaron una fractura del cóccix y la presencia de una lesión ubicada en las partes blandas, de aspecto redondeado, homogéneo, sólido, de poco más de 50 mm de diámetro. Se le realizó tratamiento quirúrgico que consistió en coccigectomía subperióstica y exéresis macroscópica de la masa. El estudio histológico concluyó el diagnóstico de un angiolipoma. Conclusiones: Los angiolipomas son tumores raros que tienen características radiológicas peculiares, requieren de alta sospecha clínico-imagenológica para indicar los estudios y el tratamiento. La exéresis total es recomendada para evitar la recurrencia y mejorar el pronóstico.

Background: Angiolipomas are benign tumors that appear in adults with special location in the posterior thoracic epidural position. Objective: To present a case that appeared with a lumbosacral axial trauma where a non-common lesion location was evidenced with no relation among the structures of the spinal canal. Case presentation: 25-year-old man who fell down, consequently suffered a painful direct trauma to the sacrococcygeal region and increased regional volume, associated with gluteal paresthesias. Radiological studies showed a fracture of the coccyx and presence of a lesion located in the soft tissues, with a rounded, homogeneous, solid aspect, a little more than 50 mm in diameter. Surgical treatment consisted of subperiosteal coccygectomy and macroscopic excision of the mass. Histological study concluded the diagnosis of an angiolipoma. Conclusions: Angiolipomas are rare tumors with peculiar radiological features, they require high clinical-imaging suspicion for studies and treatment. Total excision is recommended to avoid recurrence and improve prognosis.

Sacrococcygeal Region/diagnostic imaging , Soft Tissue Neoplasms/diagnostic imaging , Coccyx/surgery , Coccyx/injuries , Angiolipoma/surgery
Rev. med. Chile ; 150(10): 1361-1369, oct. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1431852


Musculoskeletal tumors are uncommon. However, the true burden of all bone and soft tissue tumors of extremities is underestimated. Usually, the diagnosis of sarcomas is missed or delayed. Therefore, an adequate clinical and radiological assessment, along with the awareness and application of simple guidelines for referral to a specialized center, are of utmost importance. These are critical steps for an appropriate diagnosis and treatment of sarcomas, improving their prognosis.

Humans , Adolescent , Referral and Consultation , Sarcoma/therapy , Sarcoma/diagnostic imaging , Soft Tissue Neoplasms/therapy , Soft Tissue Neoplasms/diagnostic imaging , Bone Neoplasms/therapy , Bone Neoplasms/diagnostic imaging , Muscle Neoplasms/therapy , Muscle Neoplasms/diagnostic imaging , Prognosis , Practice Guidelines as Topic , Delayed Diagnosis , Missed Diagnosis
Rev. ADM ; 79(1)ene.-feb. 2022. ilus
Article in Spanish | LILACS | ID: biblio-1362118


El angioleiomioma (AL) es una neoplasia benigna, bien circunscrita y de crecimiento lento, que representa 5% de las neoplasias de tejidos blandos y cuya etiología es desconocida. Se origina del músculo liso, mayormente de las paredes de los vasos sanguíneos; su localización es más frecuente en extremidades, siendo raros en la región de cabeza y cuello, y más aún en cavidad bucal. Histológicamente la lesión se caracteriza por ser un nódulo bien encapsulado con proliferación de fascículos de músculo liso maduro alrededor de la luz de los vasos sanguíneos, cuyas células suelen ser positivas a marcadores de inmunohistoquímica como alfa actina de músculo liso, desmina, HHF35, miosina, calponina y H-caldesmon. El tratamiento actual es la escisión quirúrgica completa con una tasa de recurrencia prácticamente nula. El objetivo es resaltar la importancia del diagnóstico y el manejo correcto de las lesiones intraorales a través de la presentación de un caso clínico de un leiomioma vascular localizado en región nasolabial, además de hacer la revisión de la literatura correspondiente (AU)

The angioleiomyoma (AL) is a benign neoplasm, well circumscribed and slow growing, that represents 5% of the soft tissue neoplasms, whose etiology is unknown. It originates from smooth muscle, mostly from the walls of blood vessels; regarding its location, it more frequently appears in the extremities, being rare in the head and neck region, and even more so in the oral cavity. Histologically, the lesion is characterized by being a well encapsulated nodule with proliferation of mature smooth muscle bundles around the lumen of the blood vessels, whose cells are usually positive for immunohistochemical markers such as alpha smooth muscle actin, desmin, HHF35, myosin, calponin and H-caldesmon. The current treatment is complete surgical excision having zero recurrence rate. The objective of the following article is to educate on the importance of correct diagnosis and management of intraoral lesions through the presentation of a clinical case of a vascular leiomyoma located in the nasolabial region, in addition to reviewing the corresponding literature (AU)

Humans , Female , Adult , Soft Tissue Neoplasms , Angiomyoma , Muscle, Smooth , Biopsy , Mexico
Chinese Journal of Pathology ; (12): 17-22, 2022.
Article in Chinese | WPRIM | ID: wpr-935464


Objective: To investigate the clinicopathological features and differential diagnoses of paratesticular liposarcoma. Methods: The cases were collected from 2012-2020, from the archives of the Department of Pathology, Peking University Third Hospital, with diagnosis confirmed by histology, immunostaining and FISH tests. Results: Totally 19 patients were enrolled (including 11 in-hospital patients and 8 consultant cases). The patients aged 37-84 years (mean 57 years). The preoperative clinical diagnoses were spermatic cord/inguinal masses (nine patients), scrotal masses (seven patients), and inguinal hernia (three patients). Six lesions recurred after local resection, including one case extending from pelvic liposarcoma. Histologically, there were 10 cases of well-differentiated liposarcoma (WDLPS) and nine cases of dedifferentiated liposarcoma (DDLPS). WDLPSs mostly showed the combined features of lipoma-like, inflammatory and sclerosing subtypes (six patients); the other four WDLPSs had pure lipoma-like subtype features. DDLPSs were low-grade (three patients) or high-grade (six patients), with the morphology resembling myxofibrosarcoma, inflammatory myofibroblastoma, spindle cell sarcoma, pleomorphic undifferentiated sarcoma and pleomorphic liposarcoma. Intense inflammatory cells infiltration was commonly observed in five WDLPSs and two DDLPSs. Ossification was observed in three tumors. Immunohistochemically, the tumors were positive for MDM2 (8/10) and CDK4 (10/10), which were expressed in lipo-differentiating cells, spindle cells in WDLPS, and in dediffferentiated components. S-100 was only expressed by lipocytes (10/10). CD34 expression was positive and diffuse in the stromal cells of WDLPSs and focal or diffuse in dedifferentiated areas (10/10). FISH tests with an MDM2 gene probe were positive (12/12). Conclusions: Paratesticular liposarcoma may be overlooked by both clinicians and pathologists. WDLPS and DDLPS predominate, showing various histologic divergences. The presence of amplification of the 12q14-q15 region (containing the MDM2 and CDK4 genes) is helpful for making the correct diagnosis.

Adult , Humans , Male , Genital Neoplasms, Male/surgery , In Situ Hybridization, Fluorescence , Liposarcoma/surgery , Proto-Oncogene Proteins c-mdm2/genetics , Soft Tissue Neoplasms
In. Graña, Andrea; Calvelo, Estela; Fagúndez, Yohana. Abordaje integral del paciente con cáncer: atención desde la medicina y especialidades. Montevideo, Cuadrado, 2022. p.453-465, ilus.
Monography in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1418100
São Paulo; s.n; 2022. 68 p. ilus, tab.
Thesis in Portuguese | LILACS, Inca | ID: biblio-1396329


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

Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Sarcoma , Fibromatosis, Aggressive , Neoplastic Cells, Circulating , Soft Tissue Neoplasms
São Paulo; s.n; 2022. 113 p. ilus, tab.
Thesis in Portuguese | LILACS, Inca | ID: biblio-1396339


INTRODUÇÃO: Os sarcomas de partes moles (SPM) de alto grau são neoplasias heterogêneas, de prognóstico ruim e que apresentam poucas alternativas de tratamento. A identificação de marcadores de resposta tumoral ao tratamento, prognóstico, e até ao desenvolvimento de novas drogas, é uma busca incessante para um melhor tratamento dos sarcomas. Neste aspecto, o receptor Lgr5 tem um grande potencial em ser um novo alvo molecular, sendo um marcador de células-tronco das criptas intestinais e glândulas mamárias que também atua como um modulador negativo da sinalização da via Wnt/ß-catenina, uma das mais importantes na biologia de sarcomas emerge como um promissor candidato para estudos pré-clínicos, uma vez que já foi demonstrada sua importância em tumores do trato gastrointestinal. Para isso, os modelos de tumor de xenoenxerto derivado do paciente (PDX) representam uma plataforma valiosa para identificar novos biomarcadores e novos alvos, assim como o Lgr5 para avaliar a resposta à terapia e os mecanismos de resistência. OBJETIVO: Este estudo teve como objetivo estabelecer, caracterizar e testar a proteína Lgr5 através de ensaios in vitro e in vivo para desvendar a importância de Lgr5 na biologia de SPM e estabelecer uma estrutura integrada, convergente e translacional para o estudo deste tipo de tumor. MATERIAIS E MÉTODOS: Para a determinação da expressão de Lgr5 foi estabelecida duas coortes de estudo, uma retrospectiva oriunda do Registro Institucional de Sarcomas e uma prospectiva, onde foram convidados pacientes operados na Instituição com o intuito de gerar Patient-derived xenografts (PDX), um modelo-pré-clínico que possui a capacidade de manter as características moleculares dos tumores dos pacientes. Para isso, foram utilizados fragmentos implantados em camundongos imunossuprimidos para gerar esses modelos tumorais derivados de pacientes, além dos estudos funcionais in vitro utilizando linhagens de SPM para análise de perfil de expressão da proteína Lgr5 através de ensaios com imunofluorescência para verificar a capacidade de expressão de Lgr5, citometria de fluxo para verificar o padrão e quantidade de proteína nas amostras analisadas e western blotting para obter um padrão de marcação da proteína Lgr5. Além dos ensaios funcionais para avaliar a participação da proteína na proliferação, se a expressão da proteína interfere no poder migratório das células e tumores de SPM e capacidade de auto renovação, bem como sua associação com os dados clínicos e dados de sobrevida. RESULTADOS: O Registro Institucional retrospectivo conta com mais de 300 pacientes, já o Registro prospectivo com 70 pacientes que derivaram a geração de 33 PDX. Foi observado que pacientes com H-score superior a 20 apresentaram sobrevida global menor em 5 anos em comparação com o H-score de pacientes com valores inferiores a 20. Agora na outra análise feita, o H-score de pacientes com valores superiores a 25 é pior em comparação com os que apresentaram valores inferiores a 25 nos dados de sobrevida livre de doença. Além disso, células que superexpressam a proteína Lgr5 tem maior capacidade migratória (p= 0.02) e uma tendência de aumento na proliferação e auto renovação. Realizamos o teste de implante dessas populações positivas e negativas de Lgr5, separadas previamente por cell sorting. Para isso foram utilizados animais Balb/c Nude. Sugerindo que a expressão da proteína transduzida pode ser modulada por mecanismos compensatórios que precisam ser explorados. CONCLUSÃO: A construção do Registro Institucional de SPM é um grande passo para o melhor compreendimento da biologia dos Sarcomas, além da possibilidade de estudar novos alvos terapêuticos desse tumor raro, uma vez que os estudos e artigos científicos ainda são muito escassos. A geração dos modelos PDX também foi uma estratégia implantada muito bem executada com a geração de 33 PDX de diversos subtipos histológicos. Além da proteína Lgr5 induzir a migração celular a sua expressão está relacionada a um pior prognóstico, uma vez que, quanto maior a expressão de Lgr5 menor é a sobrevida global do paciente.

INTRODUCTION: High-grade soft tissue sarcomas (STS) are heterogeneous neoplasms with a poor prognosis and few treatment alternatives. The identification of tumor response markers to treatment, prognosis, and even the development of new drugs, is an incessant search for a better treatment of sarcomas. In this aspect, the Lgr5 receptor has great potential to be a new molecular target, being a marker of stem cells of the intestinal crypts and mammary glands that also acts as a negative modulator of the signaling of the Wnt/ß-catenin pathway, one of the most important in the biology of sarcomas emerges as a promising candidate for preclinical studies, since its importance in tumors of the gastrointestinal tract has already been demonstrated. To that end, patient-derived xenograft (PDX) tumor models represent a valuable platform to identify new biomarkers and new targets, as does Lgr5 to assess therapy response and resistance mechanisms. OBJECTIVE: This study aimed to establish, characterize, and test the Lgr5 protein through in vitro and in vivo assays to unravel the importance of Lgr5 in the biology of PMS and to establish an integrated, convergent and translational framework for the study of this type of tumor. MATERIALS AND METHODS: To determine the expression of Lgr5, two study cohorts were established, a retrospective one from the Institutional Registry of Sarcomas and a prospective one, in which patients operated on at the Institution were invited to generate Patient-derived xenografts (PDX), a pre-model -clinical that has the ability to maintain the molecular characteristics of patients' tumors. For this, fragments implanted in immunosuppressed mice were used to generate these tumor models derived from patients, in addition to in vitro functional studies using SPM strains to analyze the expression profile of the Lgr5 protein through immunofluorescence assays to verify the ability to express Lgr5, flow cytometry to verify the pattern and amount of protein in the analyzed samples and western blotting to obtain a pattern of labeling of the Lgr5 protein. In addition to functional assays to assess the protein's participation in proliferation, whether protein expression interferes with the migratory power of SPM cells and tumors and self-renewal capacity, as well as its association with clinical data and survival data. RESULTS: The Institutional Retrospective Registry has more than 300 patients, while the Prospective Registry has 70 patients who derived the generation of 33 PDX. It was observed that patients with an H-score greater than 20 had a lower overall survival at 5 years compared to the H-score of patients with values below 20. Now in the other analysis performed, the H-score of patients with values greater than 25 it is worse compared to those who had values less than 25 in the disease-free survival data. Furthermore, cells that overexpress the Lgr5 protein have greater migratory capacity (p=0.02) and a tendency to increase proliferation and self-renewal. We performed the implant test of these positive and negative populations of Lgr5, previously separated by cell sorting. For this, Balb/c Nude animals were used. Suggesting that the expression of the transduced protein can be modulated by compensatory mechanisms that need to be explored. CONCLUSION: The construction of the Institutional Registry of PMS is a big step towards a better understanding of the biology of Sarcomas, in addition to the possibility of studying new therapeutic targets for this rare tumor, since studies and scientific articles are still very scarce. The generation of PDX models was also an implemented strategy very well executed with the generation of 33 PDX of several histological subtypes. In addition to the Lgr5 protein inducing cell migration, its expression is related to a worse prognosis, since the higher the Lgr5 expression, the lower the overall survival of the patient

Sarcoma , Soft Tissue Neoplasms , Prognosis , Mice