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Background: Li-Fraumeni syndrome (LFS) is a rare hereditary disorder caused by mutations in the tumor protein p53 (TP53). It causes a predisposition for the development of multiple malignancies, primarily including breast cancers, sarcomas, and central nervous system tumors. There are a few cases reported in the literature of patients with LFS presenting with an epidermal growth factor receptor (EGFR) mutated lung cancer. Still, it has been suggested that there may be an association between the TP53 pathogenic variant and lung cancer with EGFR mutation in somatic cells. Case Description: A 47-year-old non-smoker woman with LFS with a history of multiple tumors, including bilateral breast cancer, pecoma, and sarcoma. In one of her computed tomography, a lesion in the lingula of the lung was detected. It was biopsied, which diagnosed lung adenocarcinoma, and genetic studies detected an EGFR exon 19 deletion. She was treated with a left inferior lobectomy, followed by pemetrexed and cisplatin. Conclusions: The association between TP53 and lung cancer with EGFR mutation has been suggested in case reports. Studies in lung cancer cell lines have shown a link between TP53 mutation and EGFR overexpression. Nonetheless, as more cases are reported, further research is needed to comprehend the interrelation between these two pathologies and the risk posed by LFS to the emergence of EGFR-mutated lung cancer.
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Antecedentes: La vía de señalización de la fosfoisitol 3-quinasa (PI3K), que promueve el crecimiento y el metabolismo de las células cancerosas, es la vía mutada con mayor frecuencia en el cáncer de mama y es asociada con quimio resistencia y mal pronóstico. En este estudio presentamos el primer análisis en población panameña y de la región, con ataciones precisas de la mutación PIK3CA, las características clinicopatológicas y pronóstico. Métodos: Estudio exploratorio, donde se recolectaron prospectivamente tumores de 74 pacientes con cáncer de mama metastásico RH+/Her2- del Instituto Oncológico Nacional entre 2022 y 2023. Se realizó un ensayo de PCR en tiempo real para análisis de mutación en ADN extraído del material tumoral fijado en formalina e incluido en parafina para detectar mutaciones en los exones 1, 4, 7, 9 y 20 del gen PIK3CA. Resultados: La mediana de edad de las pacientes estudiadas fue 59 años. La mutación en PIK3CA se encontró en 33.8% (25/74) de pacientes con cáncer de mama, entre ellas 44% fueron mutaciones en el exón 20, 38% en el exón 9, 13% en el exón 4 y 5% en el exón 1. Se observó una correlación significativa entre la mutación y el tener historia de cáncer en la familia (p= 0.005), y en pacientes postmepáusicas (P = 0.045). encontramos asociación entre la mutación y el tipo histológico, grado, tamaño tumoral ni estatus axilar al momento del diagnóstico. La mediana de supervivencia libre de progresión se alcanzó en ambos grupos y tampoco demostró una diferencia significativa. Conclusión: La prevalencia de la mutación es relativamente alta comparada con escenarios internacionales, puede ofrecer una ventaja para elegir las mejores opciones de tratamiento por lo que debe evaluarse de forma rutinaria durante las intervenciones clínicas. (provisto por Infomedic International)
Background: The phosphoisitol 3-kinase (PI3K) signaling pathway, which promotes cancer cell growth and metabolism, is the most frequently mutated pathway in breast cancer and is associated with chemoresistance and poor progsis. In this study we present the first analysis in Panamanian and regional population, with precise antations of the PIK3CA mutation, clinicopathological characteristics and progsis. Methods: Exploratory study, where tumors were prospectively collected from 74 patients with RH+/Her2- metastatic breast cancer from the Instituto Oncológico Nacional between 2022 and 2023. A real-time PCR assay for mutation analysis was performed on DNA extracted from formalin-fixed, paraffin-embedded tumor material to detect mutations in exons 1, 4, 7, 9 and 20 of the PIK3CA gene. Results: The median age of the patients studied was 59 years. The mutation in PIK3CA was found in 33.8% (25/74) of patients with breast cancer, among them 44% were mutations in exon 20, 38% in exon 9, 13% in exon 4 and 5% in exon 1. A significant correlation was observed between the mutation and having history of cancer in the family (P = 0.005), and in postmepausal patients (P = 0.045). We found association between the mutation and histologic type, grade, tumor size or axillary status at diagsis. Median progression-free survival was t reached in both groups and did t show a significant difference. Conclusion: The prevalence of the mutation is relatively high compared to international settings, it may offer an advantage in choosing the best treatment options and should be routinely evaluated during clinical interventions. (provided by Infomedic International)
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Introducción: Los mesoteliomas peritoneales se origina de las células que recubren la serosa de las cavidades del cuerpo, el 15% se originan del peritoneo. Su incidencia de es 0.2 a 3 casos por millones de personal al año. Son tumores raros y su supervivencia global se limita hasta 12 meses. El objetivo de esta presentación de caso es describir una presentación atípica de esta entidad y realizar una revisión de la literatura. Materiales y métodos: Se realizó una descripción de un caso en la consulta externa de oncología diagnosticada con Mesotelioma papilar bien diferenciado de primario de peritoneo diagnosticada en el 2012 quien en el 2022 mantiene 10 años de supervivencia global y se realizó una revisión de la literatura en base al caso clínico. Resultados: Se define los tipos de mesotelioma peritoneal, sus características clínicas, el manejo del Mesotelioma Peritoneal según el Consenso de Chicago, los principios en cuidados de soporte como la ascitis peritoneal, el dolor, náuseas y vómitos, distrés psicosocial, así como la discusión del caso. Conclusión: El mesotelioma peritoneal es una enfermedad rara que puede ser rápidamente progresiva con una carga de enfermedad importante y pronóstico limitado. La instauración temprana de cuidados paliativos en pacientes con neoplasia incurable como el mesotelioma peritoneal permite el abordaje una mejor calidad de vida del paciente, así como de cumplir objetivos acordes a la situación clínica de cada paciente. (provisto por Infomedic International)
Introduction: Peritoneal mesotheliomas originate from the cells lining the serosa of the body cavities, 15% originate from the peritoneum. Their incidence is 0.2 to 3 cases per million personnel per year. They are rare tumors and their overall survival is limited to 12 months. The aim of this case report is to describe an atypical presentation of this entity and to review the literature. Materials and methods: A description of a case was made in the oncology outpatient clinic diagnosed with well-differentiated papillary mesothelioma of primary peritoneum diagnosed in 2012 who in 2022 maintains 10 years of overall survival and a review of the literature was performed based on the clinical case. Results: We define the types of peritoneal mesothelioma, its clinical features, the management of peritoneal mesothelioma according to the Chicago Consensus, the principles in supportive care such as peritoneal ascites, pain, nausea and vomiting, psychosocial distress, as well as the discussion of the case. Conclusion: Peritoneal mesothelioma is a rare disease that can be rapidly progressive with a significant disease burden and limited prognosis. The early establishment of palliative care in patients with incurable neoplasm such as peritoneal mesothelioma allows the approach to a better quality of life of the patient, as well as to meet objectives according to the clinical situation of each patient. (provided by Infomedic International)
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Myoepithelial carcinoma of the salivary glands is a rare entity, with scarce amount of case reports in the literature. Due to its infrequency, its diagnosis is usually difficult and uncertain. Although there are reports of locoregional recurrences and distant metastases, its low incidence and varied biological behavior limits the clinical evidence that can be used to predict the prognosis and determine the course of treatment. We present a 23-year-old female patient without past medical history with an initial 1-year history of volume increase in the right parotid region of tumor aspect and painful on palpation. As a malignancy was suspected, a total parotidectomy was performed, reporting in the deep lobe a parotid myoepithelial carcinoma with vascular and neural invasion, negative borders, and 3-9 negative regional nodes. During her 16-year clinical evolution, she presented approximately every 2 years and a total of 9 locoregional recurrences and hepatic metastases, including cervical lymphoid nodules, temporal bone, frontal bone, and temporal fossa. Those recurrences have been treated with coordinated efforts between repeated external radiotherapy, chemotherapy, and multiple surgical resections. Myoepithelial tumors represent only 1.0-1.5% of all salivary gland tumors. The literature reports suggest a high incidence of locoregional recurrences and distant metastases in de novo myoepithelial carcinomas. Due to its rarity, treatment continues to be based on the experience of medical staff.
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Introducción: Los costes informales derivan de cuidados informales que es la atención prestada a un enfermo o discapacitado por parte de personas que no son profesionales socio sanitarios y que no reciben una remuneración económica. El objetivo del trabajo es explicar los costes informales en salud, su definición, su obtención, análisis y el im pacto en su incorporación en las evaluaciones económicas en salud. Materiales y métodos: Se realizó una búsqueda del tema sobre costes informales en la base de datos de MedlinePubmed y en la búsqueda de la biblioteca de la Universidad Carlos III Madrid vía internet a través de varias bases de datos como EconLit y ABI/IN FORM collection. Resultados: Se define los cuidados informales, los métodos para su medición en tiempo, en preferencias reveladas, preferencias establecidos fijados, otros métodos, la importan cia de incorporar los costos informales en las evaluaciones económicas en salud. Conclusión: La evaluación económica a nivel de la perspectiva de la sociedad se debe incluir, pero muchas veces se realiza según el pagador por lo difícil que puede ser su medición.
Introduction: Informal costs derive from informal care, which is the care provided to a sick or disabled person by people who are not sociohealth professionals and who do not receive financial compensation. The objective of the work is to explain the informal costs in health, its definition, its obtaining, analysis and the impact on its incorporation in the economic health evaluations. Material and methods: A search of the topic on informal costs was carried out in the Medli nePubmed database and in the search of the Carlos III Madrid University library via the In ternet through several databases such as EconLit and ABI / INFORM collection. Results: Informal care is defined, the methods for its measurement in time, in revealed preferences, established preferences, other methods, the importance of incorporating informal costs in economic health evaluations. Conclusion: The economic evaluation at the level of the society perspective must be in cluded, but many times it is carried out according to the payer because of how difficult its measurement can be done
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Avaliação em Saúde , Cuidadores/economia , Economia Médica/organização & administração , Qualidade de Vida/psicologia , Bases de Dados Bibliográficas , Avaliação das NecessidadesRESUMO
INTRODUCTION: Previously, we reported the frequency of epidermal growth factor receptor (EGFR) and KRAS mutations in nonsmall-cell lung cancer (NSCLC) patients in Latin America. The EGFR mutation frequency was found between Asian (40%) and Caucasian (15%) populations. Here, we report the updated distribution of NSCLC mutations. METHODS: A total of 5738 samples from NSCLC patients from Argentina (1713), Mexico (1417), Colombia (1939), Peru (393), Panama (174), and Costa Rica (102) were genotyped for EGFR and KRAS. RESULTS: The median patient age was 62.2 ± 12.3 years; 53.5% were women, 46.7% had a history of smoking, and 95.2% had adenocarcinoma histology. The frequency of EGFR mutations was 26.0% (95% confidence interval [CI], 24.9-27.1; Argentina, 14.4% [12.8-15.6]; México, 34.3% [31.9-36.7]; Colombia, 24.7% [22.8-26.6]; Peru, 51.1% [46.2-55.9]; Panamá, 27.3 [20.7-33.9]; and Costa Rica, 31.4% [22.4-40.4]). The frequency of KRAS mutations was 14.0% (9.1-18.9). In patients with adenocarcinoma, EGFR mutations were independently associated with gender (30.7% females vs. 18.4% males; p < 0.001), nonsmoker status (27.4% vs. 17.1%, p < 0.001), ethnicity (mestizo/indigenous, 35.3% vs. Caucasian, 13.7%, p < 0.001), and the absence of KRAS mutation (38.1% vs. 4.7%; p < 0.001). The overall response rate to EGFR tyrosine kinase inhibitors was 60.6% (95% CI, 52-69), with a median progression-free survival and overall survival of 15.9 (95% CI, 12.420.6) and 32 months (95% CI, 26.5-37.6), respectively. CONCLUSION: Our findings support the genetic heterogeneity of NSCLC in Latin America, confirming that the frequency of EGFR mutations is intermediate between that observed in the Asian and Caucasian populations.
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Adenocarcinoma/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Receptores ErbB/genética , Neoplasias Pulmonares/genética , Taxa de Mutação , Proteínas Proto-Oncogênicas p21(ras)/genética , Adenocarcinoma/patologia , Idoso , Indígena Americano ou Nativo do Alasca/genética , Argentina , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Carcinoma Pulmonar de Células não Pequenas/patologia , Colômbia , Costa Rica , Intervalo Livre de Doença , Receptores ErbB/antagonistas & inibidores , Feminino , Heterogeneidade Genética , Humanos , Neoplasias Pulmonares/tratamento farmacológico , Neoplasias Pulmonares/patologia , Masculino , México , Pessoa de Meia-Idade , Panamá , Peru , Inibidores de Proteínas Quinases/uso terapêutico , Fatores Sexuais , Fumar/genética , Taxa de Sobrevida , População Branca/genéticaRESUMO
BACKGROUND AND AIMS: Fluoropyrimidine-based chemotherapy is the most common treatment for unresectable metastatic colorectal cancer (m-CRC). Therapy with 5-FU/folinic acid (FA) continues to be a standard treatment in developing countries. Pharmacogenomics allows the tailoring of cancer therapy to the patient. The polymorphism 677C>T of the methylenetetrahydrofolate reductase (MTHFR) gene seems to influence the effectiveness of treatment with 5-FU. We undertook this study to evaluate the frequency of MTHFR 677C>T polymorphism and its relationship to the time to progression (TTP) and overall survival (OS) in m-CRC treated with 5-FU/FA. METHODS: The MTHFR 677C>T polymorphism was determined using PCR and allele-specific digestion. The clinical variables, TTP and OS, were analyzed in each case and compared between wild-type and variant polymorphic groups. RESULTS: Among 34 patients (12 males and 22 females), we detected eight wild-type homozygous patients (CC; 24%), nine variant homozygous (TT; 26%), and 17 heterozygous (CT; 50%) individuals. The median TTP in patients with the MTHFR 677 CC, CT, and TT genotypes was 3.43, 4.77, and 4.80 months, respectively (p = 0.047, log rank). A longer TTP was observed in patients with polymorphic variant (CT and TT) compared with the wild-type homozygous patients (4.80 vs. 3.43 months; p = 0.031, log rank). CONCLUSIONS: In this study, the frequency of the MTHFR 677C>T polymorphism is 50% among m-CRC Mexican patients. The results of this study appear to show that the presence of the MTHFR 677C>T polymorphism is associated with longer TTP and OS in m-CRC treated with 5-FU/FA.