ABSTRACT
El mesotelioma pleural maligno es un tumor relativamente raro pero altamente agresivo, con una expectativa media de vida entre 9 y 17 meses, relacionado con la exposición al asbesto. El dolor torácico y la disnea son sus manifestaciones clínicas más frecuentes. La terapia más empleada es la cirugía acompañada de tratamiento quimioterápico. La valoración prequirúrgica, tras el tratamiento quimioterápico, ha sido realizada a través de la resonancia magnética y la tomografía axial computarizada (TAC). Sin embargo, estas técnicas no permiten predecir de forma precoz la respuesta a la terapia, dada la lenta modificación estructural del tumor. La presentación de esta nota clínica invita a revisar y conocer la creciente utilidad de la imagen PET-TAC, con 18F-FDG, en la estadificación prequirúrgica del mesotelioma pleural maligno y su influencia en la selección del tipo de cirugía más apropiada(AU)
Malignant pleural mesothelioma is a relatively rare, but highly aggressive, tumor, associated to exposure to asbestos, with a life expectancy between 9 and 17 months. Chest pain and dyspnea are the most frequent symptoms. The most commonly used therapy is surgery accompanied by chemotherapy. Preoperative assessment, after chemotherapy, has been done using magnetic resonance imaging and computed tomography (CT). However, these techniques cannot predict early response to therapy, because of the slow structural change of the tumor. The aim of this case report is to review and learn about the growing use of PET-CT imaging with 18F-FDG in the preoperative staging of malignant pleural mesothelioma and its influence in selecting the most appropriate type of surgery(AU)
Subject(s)
Humans , Male , Female , Positron-Emission Tomography , Fluorodeoxyglucose F18 , Pleural Neoplasms/drug therapy , Pleural Neoplasms , Neoadjuvant Therapy/methods , Dyspnea/complications , Dyspnea , /methods , Asbestos/adverse effects , Chest Pain/complications , Chest Pain/diagnosis , Chest Pain/etiologyABSTRACT
Malignant pleural mesothelioma is a relatively rare, but highly aggressive, tumor, associated to exposure to asbestos, with a life expectancy between 9 and 17 months. Chest pain and dyspnea are the most frequent symptoms. The most commonly used therapy is surgery accompanied by chemotherapy. Preoperative assessment, after chemotherapy, has been done using magnetic resonance imaging and computed tomography (CT). However, these techniques cannot predict early response to therapy, because of the slow structural change of the tumor. The aim of this case report is to review and learn about the growing use of PET-CT imaging with (18)F-FDG in the preoperative staging of malignant pleural mesothelioma and its influence in selecting the most appropriate type of surgery.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Fluorine Radioisotopes , Fluorodeoxyglucose F18 , Mesothelioma/diagnostic imaging , Multimodal Imaging , Neoadjuvant Therapy , Pleural Neoplasms/diagnostic imaging , Positron-Emission Tomography , Radiopharmaceuticals , Tomography, X-Ray Computed , Cisplatin/administration & dosage , Combined Modality Therapy , Glutamates/administration & dosage , Guanine/administration & dosage , Guanine/analogs & derivatives , Humans , Lymphatic Metastasis , Male , Mesothelioma/drug therapy , Mesothelioma/secondary , Mesothelioma/surgery , Middle Aged , Pemetrexed , Pleural Neoplasms/drug therapy , Pleural Neoplasms/surgery , Preoperative Care , Tumor BurdenABSTRACT
Introducción: La enfermedad granulomatosa crónica (EGC) es una inmunodeficiencia primaria poco frecuente que se produce por la inactivación del complejo enzimático NADPH oxidasa. Estos pacientes presentan la función fagocítica alterada, lo que les hace más susceptibles a padecer infecciones bacterianas y/o fúngicas. Métodos: Se estudió a un niño de 6 años con sospecha de EGC. El estudio funcional de NADPH oxidasa estaba alterado, diagnosticándose de EGC. Simultáneamente, se nos informó del segundo embarazo de la madre y se solicitó consejo genético. Resultados: Se identificó una mutación nueva causante de enfermedad mediante secuenciación directa del gen CYBB (EGC ligada al X) en el paciente afecto. Al mismo tiempo, se hizo el estudio prenatal cuyo resultado fue la identificación de la misma mutación en el feto. Conclusiones: Es necesario hacer el estudio molecular de la EGC para realizar el diagnóstico de certeza de la enfermedad del paciente con el objetivo de ofrecer diagnóstico prenatal y consejo genético en futuros embarazos (AU)
Background: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency caused by the alteration of the enzyme complex NADPH oxidase, which affects the phagocytic function.CGD patients are susceptible to recurrent infections mainly caused by bacteria and/or fungi. Methods: We studied a 6 year-old boy with suspicion of CGD. The diagnosis was confirmed based on the functional study of NADPH oxidase. Simultaneously, the second pregnancy of the mother was reported and genetic counselling was requested. Results: We identified a new disease-causing mutation by direct sequencing of the CYBB gene (X-linked CGD). The prenatal study resulted in the identification of the same mutation in the foetus. Comments: Molecular genetics characterisation of CGD is needed to obtain an accurate diagnosis of the disease and to offer prenatal diagnosis and genetic counselling in future pregnancies (AU)
Subject(s)
Humans , Male , Child , Granulomatous Disease, Chronic/congenital , Immunologic Deficiency Syndromes/congenital , Prenatal Diagnosis/methods , NADP/analysis , Mutation , Genetic Diseases, X-Linked/diagnosis , Genetic CounselingABSTRACT
BACKGROUND: Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency caused by the alteration of the enzyme complex NADPH oxidase, which affects the phagocytic function. CGD patients are susceptible to recurrent infections mainly caused by bacteria and/or fungi. METHODS: We studied a 6 year-old boy with suspicion of CGD. The diagnosis was confirmed based on the functional study of NADPH oxidase. Simultaneously, the second pregnancy of the mother was reported and genetic counselling was requested. RESULTS: We identified a new disease-causing mutation by direct sequencing of the CYBB gene (X-linked CGD). The prenatal study resulted in the identification of the same mutation in the foetus. COMMENTS: Molecular genetics characterisation of CGD is needed to obtain an accurate diagnosis of the disease and to offer prenatal diagnosis and genetic counselling in future pregnancies.
