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1.
Int J Mol Sci ; 25(14)2024 Jul 11.
Artículo en Inglés | MEDLINE | ID: mdl-39062853

RESUMEN

Synovial sarcoma (SS) is a rare soft-tissue tumor characterized by a monomorphic blue spindle cell histology and variable epithelial differentiation. Morphologically, SSs may be confused with other sarcomas. Systemic treatment is more effective for patients with high-risk SSs, patients with advanced disease, and younger patients. However, further studies are required to find new prognostic biomarkers. Herein, we describe the morphological, molecular, and clinical findings, using a wide immunohistochemical panel, of a series of SS cases. We studied 52 cases confirmed as SSs by morphological diagnosis and/or molecular studies. Clinical data (gender, age, tumor size, tumor location, resection margins, adjuvant treatment, recurrences, metastasis, and survival) were also retrieved for each patient. All the available H&E slides were examined by four pathologists. Three tissue microarrays (TMAs) were constructed for each of the tumors, and a wide immunohistochemical panel was performed. For time-to-event variables, survival analysis was performed using Kaplan-Meier curves and log-rank testing, or Cox regression. Statistical significance was considered at p < 0.05. The mean age of our patients was 40.33, and the median was 40.5 years. We found a predominance of males versus females (1.7:1). The most frequent morphological subtype was monophasic. TRPS1, SS18-SSX, and SSX-C-terminus were positive in 96% of cases. GLI1 expression was strong in six and focal (cytoplasmic) in twenty patients. Moreover, BCOR was expressed in more than half of SSs. Positive expression of both proteins, BCOR and GLI1, was correlated with a worse prognosis. Multivariate analysis was also performed, but only BCOR expression appeared to be significant. The combination of GLI1 and BCOR antibodies can be used to group SSs into three risk groups (low, intermediate, and high risk). We hypothesize that these findings could identify which patients would benefit from receiving adjuvant treatment and which would not. Moreover, these markers could represent therapeutic targets in advanced stages. However, further, larger series of SSs and molecular studies are necessary to corroborate our present findings.


Asunto(s)
Biomarcadores de Tumor , Inmunohistoquímica , Proteínas Proto-Oncogénicas , Proteínas Represoras , Sarcoma Sinovial , Proteína con Dedos de Zinc GLI1 , Humanos , Sarcoma Sinovial/metabolismo , Sarcoma Sinovial/patología , Sarcoma Sinovial/genética , Masculino , Femenino , Proteínas Represoras/metabolismo , Proteínas Represoras/genética , Adulto , Persona de Mediana Edad , Pronóstico , Biomarcadores de Tumor/metabolismo , Proteínas Proto-Oncogénicas/metabolismo , Proteínas Proto-Oncogénicas/genética , Proteína con Dedos de Zinc GLI1/metabolismo , Proteína con Dedos de Zinc GLI1/genética , Anciano , Adulto Joven , Adolescente , Estimación de Kaplan-Meier
2.
Virchows Arch ; 482(2): 407-417, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36376703

RESUMEN

Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant soft tissue tumor of unpredictable clinical behavior. The morphological spectrum of EMC based on histology alone can be difficult. There is no precise immunohistochemical (IHC) profile that together with the clinical parameters is able to predict the clinical outcome. We studied 31 cases confirmed as EMC. Clinical and follow-up data were recorded. Histopathological, molecular, and IHC studies were performed. Association among histopathological parameters was assessed using a chi-square test to determine homogeneity or linear trend for ordinal variables. The Kaplan-Meier proportional risk test (log rank) was used to study the impact of the histological, IHC, and molecular factors on progression-free survival (PFS) and disease-specific survival (DSS). Most EMCs showed a typical architectural pattern. Only a few cases presented an atypical histology (higher cellularity and solid pattern). IHC positivity (focal or diffuse) was present for CDK4 (100%), STAT-6 (90%), CD117 (84%), HNK-1 (81%), SATB2 (68%), and S-100 (58%). Synaptophysin and INSM1 were expressed in 22.6% and 38.7% of cases respectively. The EWSR1::NR4A3 rearrangement was found in 19 cases and 7 tumors presented the TAF15::NR4A3 fusion. Positive surgical margins together with atypical histology and expression of p53 and Ki67 correlated with worse clinical prognosis. EMCs express several IHC markers which are also seen in other soft tissue sarcomas. The molecular detection of NR4A3 rearrangement supports the differential diagnosis. Positive surgical margins together with atypical histology and positive expression of p53 and Ki-67 seem to predict a poor clinical outcome with worse prognosis, increased rate of recurrence, metastasis, and poor overall survival.


Asunto(s)
Condrosarcoma , Sarcoma , Neoplasias de los Tejidos Blandos , Humanos , Antígeno Ki-67/metabolismo , Proteína p53 Supresora de Tumor/genética , Pronóstico , Márgenes de Escisión , Condrosarcoma/genética , Sarcoma/patología , Proteínas Represoras/metabolismo
3.
Salud UNINORTE ; 34(3): 696-704, sep.-dic. 2018. graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1004623

RESUMEN

Resumen Objetivo: Describir, interpretar y analizar los sentimientos de las personas con diabetes en el transcurrir de su enfermedad. Método: Estudio cualitativo, fenomenológico; se realizó en el Hospital Chepén (La Libertad, Perú) a 10 personas entre 50 y 70 años, determinado por la saturación del discurso y que cumplieron los criterios de inclusión. Los datos fueron recolectados con entrevista a profundidad. Se consideran tres momentos: descripción, reducción y comprensión, que incluye el análisis ideográfico y nomotético hasta llegar a generalidades. Resultados: Se generaron cuatro unidades de significado principales de acuerdo al mayor número de convergencias: sufrimiento, miedo, resignación y fe en Dios, que se agruparon en dos grandes unidades: "viviendo con sufrimiento y miedo para aceptar mi enfermedad" y" teniendo resignación y fe en Dios para aprender a vivir con mi enfermedad". También expresaron cólera, soledad, autoconfianza, desesperanza, culpabilidad, negación, sensibilidad, envidia y alegría, que indican la develación y comprensión del fenómeno vivenciado por las personas con diabetes. Conclusiones: En la convivencia con una enfermedad crónica todos enfrentan el duelo como proceso natural necesario, que causa principalmente sufrimiento, miedo que culmina con la aceptación, pero cuando dicho proceso no es satisfactorio se opta por la resignación; de ahí la importancia para enfermería de tomar en cuenta el universo emocional del paciente para comprenderlo, poniéndose en su lugar y ayudarlo a que aprenda a vivir con su enfermedad y mejorar su calidad de vida.


Abstract Objective: To describe, interpret and analyze the feelings of people with diabetes in the course of their illness. Method: A qualitative, phenomenological study was conducted at the Chepén Hospital (La Libertad, Peru), on 10 people between 50 and 70 years old, determined by speech saturation and who met the inclusion criteria. The data collected was with an in-depth interview. Three moments are considered: description, reduction and comprehension that includes the ideographic and nomothetic analysis reaching generalities. Results: four main units of meanings were generated according to the greatest number of convergences: suffering, fear, resignation and faith in God, which were grouped into two main units of meanings: "living with suffering and fear to accept my illness" and "having resignation and faith in God to learn to live with my disease". They also expressed anger, loneliness, self-confidence, hopelessness, guilt, denial, sensitivity, envy and joy, indicating the unveiling and understanding of the phenomenon experienced by people with diabetes. Conclusions: In cohabitation with a chronic illness, all face bereavement as a necessary natural process, which causes mainly suffering, fear that culminates with acceptance, but when this process is not satisfactory the person chooses resignation, hence the importance for nursing take into account the emotional universe of the patient to understand it, putting themselves in his place and helping him to learn to live with his illness and improve his quality of life.

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