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1.
Pathol Res Pract ; 257: 155276, 2024 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-38603842

RESUMO

BACKGROUND: Malignant pleural mesothelioma (MPM) poses diagnostic challenges due to its resemblance to benign pleural pathologies and different histological subtypes. Several immunohistochemistry markers have been employed to aid in accurate diagnosis. METHODS: The present systematic review and meta-analysis aimed to assess the diagnostic performance of various immunohistochemistry markers in malignant pleural mesothelioma diagnosis and its histological subtypes. Following the PRISMA guidelines, we systematically searched the literature for articles on using different immunohistochemical markers in MPM and its histological subtypes. EMBASE, LILACS, MEDLINE, and Virtual Health Library were searched for studies published up to August 2023. We used the QUADAS-2 (Quality Assessment of Diagnostic Accuracy Studies) criteria to assess the quality of the included articles. Meta-analyses were performed to determine prevalence using a random-effects model. RESULTS: 103 studies met the inclusion criteria, comprising a diverse range of immunohistochemistry markers. EMA and desmin-loss exhibited high sensitivity (96% and 92%, respectively) in distinguishing malignant pleural mesothelioma from benign pleural pathologies. Specificity was notably high for both BAP1-loss and survivin expression at 100%. Subtype-specific analyses demonstrated that EMA and HEG1 were sensitive markers for epithelioid mesothelioma, while GLUT1 showed high sensitivity for sarcomatoid mesothelioma. In cases comparing epithelioid mesothelioma and lung adenocarcinoma, CAM5.2 and calretinin displayed high sensitivity, while WT1 and BAP1-loss demonstrated exceptional specificity for malignant epithelioid mesothelioma. In the case of sarcomatoid mesothelioma and sarcomatoid lung carcinoma, GATA3 exhibited the most heightened sensitivity, while GATA3 and D2-40 displayed the best specificity for sarcomatoid malignant mesothelioma diagnosis. CONCLUSION: Immunohistochemistry markers are essential in accurately diagnosing malignant pleural mesothelioma and its histological subtypes. This systematic review and meta-analysis provide a comprehensive insight into the diagnostic performance of these markers, facilitating their potential clinical utility in the discrimination of malignant pleural mesothelioma from other pleural pathologies and the differentiation of malignant pleural mesothelioma subtypes.

2.
J Pathol Inform ; 15: 100369, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38638195

RESUMO

The most widely accepted and used type of digital pathology (DP) is whole-slide imaging (WSI). The USFDA granted two WSI system approvals for primary diagnosis, the first in 2017. In Latin America, DP has the potential to reshape healthcare by enhancing diagnostic capabilities through artificial intelligence (AI) and standardizing pathology reports. Yet, we must tackle regulatory hurdles, training, resource availability, and unique challenges to the region. Collectively addressing these hurdles can enable the region to harness DP's advantages-enhancing disease diagnosis, medical research, and healthcare accessibility for its population. Americas Health Foundation assembled a panel of Latin American pathologists who are experts in DP to assess the hurdles to implementing it into pathologists' workflows in the region and provide recommendations for overcoming them. Some key steps recommended include creating a Latin American Society of Digital Pathology to provide continuing education, developing AI models trained on the Latin American population, establishing national regulatory frameworks for protecting the data, and standardizing formats for DP images to ensure that pathologists can collaborate and validate specimens across the various DP platforms.

4.
Rev Gastroenterol Peru ; 43(3): 236-241, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37890848

RESUMO

Gastric cancer is a multifactorial disease with important genetic and environmental factors. It is the fifth most common cancer in incidence, and the fourth cause of death secondary to cancer. The incidence of early-onset gastric cancer is increasing worldwide, but clinical information on these patients has not been well established. We analyzed the association between age and clinical, endoscopic, and histopathological characteristics of gastric cancer at the time of diagnosis in a Latin American population. A retrospective and descriptive cross-sectional study was carried out using the database of the Gastroenterology Service of the Clínica Foscal and Clínica Foscal Internacional in Bucaramanga, Colombia. Between January 2016 and December 2019, 259 de novo gastric cancer cases were diagnosed, of which 36 patients (13.9%) were 40 years old or younger. In patients with early-onset gastric, the prevalence of gastric cancer diagnosis was lower in men. A family history of gastric cancer or any other neoplasm was not associated with a higher prevalence of gastric neoplasms. In young patients, vomiting and ascites were more common, the preferred anatomical location was the body of the stomach, and the Borrmann IV classification and the diffuse-type histology were more likely. Our study showed an approximation of the characteristics of early-onset gastric cancer in a Latin American population, where we observed that early-onset gastric cancer has different demographic, anatomical, and histological features than late-onset gastric cancer.


Assuntos
Neoplasias Gástricas , Masculino , Humanos , Adulto , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/epidemiologia , Neoplasias Gástricas/genética , Colômbia/epidemiologia , Estudos Retrospectivos , Estudos Transversais
5.
Biomedica ; 43(Sp. 1): 41-56, 2023 08 31.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-37721903

RESUMO

The fusariosis is an opportunistic mycosis caused by Fusarium spp. Its clinical presentation depends on the immunological status of the host, especially in patients with hematooncological diseases, whose manifestations vary from localized to invasive fungal infections. Skin or blood culture helps to guide combined antifungal treatment with amphotericin B and voriconazole. Here, we present 13 cases in a period of eleven years of patients with cancer who developed disseminated fusariosis and their outcomes, together with a review of the related literature. In this series of cases, mortality was 61.5 % (8/13), despite the use of the antifungal. Out of the 13 cases, 11 had hematological neoplasia and 2 solid neoplasia. The most determinant risk factor was profound neutropenia. Skin involvement and positive blood cultures in most cases allowed combined treatment prescription. Persistent febrile neutropenia associated with skin lesions, onychomycosis, nodules, or lung masses lead to suspicion of Fusarium spp. fungal invasive infection. The aim of this series of cases is to remind healthcare professionals that oncological patients with deep and persistent febrile neutropenia can develop fusariosis.


La fusariosis es una micosis oportunista producida por Fusarium spp. Su presentación clínica depende del estado inmunológico del huésped, especialmente, el de aquellos con enfermedades hematooncológicas, cuyas manifestaciones varían desde formas localizadas hasta infección fúngica invasora. El cultivo de piel o de sangre permite orientar el tratamiento antifúngico combinado con anfotericina B y voriconazol. Se presentan 13 casos de pacientes con cáncer en un periodo de once años que desarrollaron fusariosis diseminada; asimismo, se hizo con una revisión extensa de la literatura. En esta serie de casos, la mortalidad fue del 61,5 % (8/13), a pesar del uso del antifúngico. De los 13 pacientes, 11 tenían neoplasia hematológica y 2 neoplasia sólida. El factor de riesgo más importante fue la neutropenia profunda. El compromiso de la piel y los hemocultivos positivos facilitaron la prescripción del tratamiento combinado en la mayoría de los casos. La neutropenia febril persistente asociada a lesiones cutáneas, la onicomicosis, los nódulos o las masas pulmonares permitieron sospechar una infección fúngica invasora por Fusarium spp. El objetivo de la presentación de esta serie de casos es recordar el diagnóstico de fusariosis a la comunidad médica en contacto con pacientes oncológicos, con neutropenia febril profunda y persistentes.


Assuntos
Neutropenia Febril , Fusariose , Neoplasias , Humanos , Fusariose/tratamento farmacológico , Fusariose/etiologia , Antifúngicos/uso terapêutico , Pesquisa , Neoplasias/complicações
6.
Lung Cancer ; 185: 107378, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37729688

RESUMO

INTRODUCTION: The frequency of actionable mutations varies between races, and Hispanic/Latino (H/L) people are a population with different proportions of ancestry. Our purpose was to establish prevalence of actionable mutations in the H/L population with NSCLC. METHODS: EMBASE, LILACS, MEDLINE, and Virtual Health Library were searched for studies published up to April 2023 that evaluated the prevalence of ALK, BRAF, EGFR, HER-2, KRAS, MET, NTRK, RET, ROS1 in H/L patients. Meta-analyses were done to determine prevalence using a random effects model. RESULTS: Fifty-five articles were included. EGFR and KRAS were the most prevalent genes with high heterogeneity across the countries. The overall mutation frequency for EGFR was 22%. The most frequent mutations in the EGFR gene were del19 (10%) and L858R (7%). The mean of KRAS mutation was a 14% prevalence. KRASG12C was the most frequent mutation with a 7% prevalence in an entire population. The overall frequency of ALK rearrangement was 5%. The mean frequency of ROS-1 rearrangement was 2%, and the frequencies of HER-2, MET, BRAF, RET, NTRK molecular alterations were 4%, 3%, 2%, 2%, and 1% respectively. Almost half of the cases were male, and 65.8% had a history of tobacco exposure. The most common clinical stage was IV. CONCLUSIONS: The prevalence of driver mutations such as EGFR and KRAS in LA populations differs from what is reported in Asians and Europeans. In the present article, countries with a high proportion of Amerindian ancestry show a greater prevalence of EGFR in contrast to countries with a high proportion of Caucasians. Lack of information on some countries or studies with a small sample size affects the real prevalence data for the region.

7.
J Thorac Dis ; 15(7): 3885-3907, 2023 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-37559628

RESUMO

Background: Lung adenocarcinoma (LUAD) is a prevalent subtype of lung cancer associated with high mortality rates. We aimed to utilize single-cell multiomics analysis to identify the key molecules involved in ubiquitination modification, which plays a role in LUAD development and progression. Methods: We use a systematic approach to analyze LUAD-related single-cell and bulk transcriptome datasets from Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases. Single-cell RNA sequencing (scRNA-seq) data were normalized, clustered, and annotated with the Seurat package in R. InferCNV was used to distinguish malignant from epithelial cells, and AUCell evaluated the area under the curve (AUC) score of ubiquitination-related enzymes. Survival and differential analyses identified significant molecular markers associated with ubiquitination. PSMD14 expression was confirmed using reverse-transcription quantitative polymerase chain reaction (RT-qPCR) and Western blot assays, and its knockdown cell lines were assessed for effects on cellular processes and tumor formation in mice. PSMD14's interacting proteins were predicted, and its impact on AGR2 protein half-life and ubiquitination was evaluated. Rescue experiments involving PSMD14 overexpression and AGR2 silencing assessed their impact on malignant behaviors. Results: By means of single-cell sequencing analysis, we probed the ubiquitination modification landscape in the LUAD microenvironment. Malignant cells had elevated scores for enzymes and ubiquitin-binding domains compared to normal epithelial cells, with 53 ubiquitination-related molecules showing prognostic disparities. FGR, PSMD14, and ZBTB16 were identified as genes with prognostic significance, with PSMD14 showing higher expression in epithelial and malignant cells. Two missense mutation sites were identified in PSMD14, which had a high copy number amplification ratio and positive correlation with messenger RNA (mRNA) expression. PSMD14 expression and tumor stage were found to be independent prognostic factors, and interfering with PSMD14 expression reduced the malignant behavior of LUAD cells. PSMD14 was found to bind to AGR2 protein and reduce its ubiquitination, leading to increased AGR2 stability. Knockdown of AGR2 inhibited the enhancement of cell viability, invasion, and migration resulting from PSMD14 overexpression. Conclusions: This study examined ubiquitination modifications in LUAD using sequencing data, identifying PSMD14's critical role in malignancy regulation and its potential as a prognostic and therapeutic biomarker. These insights enhance understanding of LUAD mechanisms and treatment.

8.
Biomédica (Bogotá) ; 43(Supl. 1): 41-56, ago. 2023. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1533892

RESUMO

La fusariosis es una micosis oportunista producida por Fusarium spp. Su presentación clínica depende del estado inmunológico del huésped, especialmente, el de aquellos con enfermedades hematooncológicas, cuyas manifestaciones varían desde formas localizadas hasta infección fúngica invasora. El cultivo de piel o de sangre permite orientar el tratamiento antifúngico combinado con anfotericina B y voriconazol. Se presentan 13 casos de pacientes con cáncer en un periodo de once años que desarrollaron fusariosis diseminada; asimismo, se hizo con una revisión extensa de la literatura. En esta serie de casos, la mortalidad fue del 61,5 % (8/13), a pesar del uso del antifúngico. De los 13 pacientes, 11 tenían neoplasia hematológica y 2 neoplasia sólida. El factor de riesgo más importante fue la neutropenia profunda. El compromiso de la piel y los hemocultivos positivos facilitaron la prescripción del tratamiento combinado en la mayoría de los casos. La neutropenia febril persistente asociada a lesiones cutáneas, la onicomicosis, los nódulos o las masas pulmonares permitieron sospechar una infección fúngica invasora por Fusarium spp. El objetivo de la presentación de esta serie de casos es recordar el diagnóstico de fusariosis a la comunidad médica en contacto con pacientes oncológicos, con neutropenia febril profunda y persistentes.


The fusariosis is an opportunistic mycosis caused by Fusarium spp. Its clinical presentation depends on the immunological status of the host, especially in patients with hemato-oncological diseases, whose manifestations vary from localized to invasive fungal infections. Skin or blood culture helps to guide combined antifungal treatment with amphotericin B and voriconazole. Here, we present 13 cases in a period of eleven years of patients with cancer who developed disseminated fusariosis and their outcomes, together with a review of the related literature. In this series of cases, mortality was 61.5 % (8/13), despite the use of the antifungal. Out of the 13 cases, 11 had hematological neoplasia and 2 solid neoplasia. The most determinant risk factor was profound neutropenia. Skin involvement and positive blood cultures in most cases allowed combined treatment prescription. Persistent febrile neutropenia associated with skin lesions, onychomycosis, nodules, or lung masses lead to suspicion of Fusarium spp. fungal invasive infection. The aim of this series of cases is to remind healthcare professionals that oncological patients with deep and persistent febrile neutropenia can develop fusariosis.


Assuntos
Fusarium , Anfotericina B , Fungemia , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Voriconazol
9.
Surg Neurol Int ; 14: 225, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37404501

RESUMO

Background: Gliomas represent almost 30% of all primary brain tumors and account for 80% of malignant primary ones. In the last two decades, significant progress has been made in understanding gliomas' molecular origin and development. These advancements have demonstrated a remarkable improvement in classification systems based on mutational markers, which contribute paramount information in addition to traditional histology-based classification. Methods: We performed a narrative review of the literature including each molecular marker described for adult diffuse gliomas used in the World Health Organization (WHO) central nervous system 5. Results: The 2021 WHO classification of diffuse gliomas encompasses many molecular aspects considered in the latest proposed hallmarks of cancer. The outcome of patients with diffuse gliomas relies on their molecular behavior and consequently, to determine clinical outcomes for these patients, molecular profiling should be mandatory. At least, the following molecular markers are necessary for the current most accurate classification of these tumors: (1) isocitrate dehydrogenase (IDH) IDH-1 mutation, (2) 1p/19q codeletion, (3) cyclin-dependent kinase inhibitor 2A/B deletion, (4) telomerase reverse transcriptase promoter mutation, (5) α-thalassemia/ mental retardation syndrome X-linked loss, (6) epidermal growth factor receptor amplification, and (7) tumor protein P53 mutation. These molecular markers have allowed the differentiation of multiple variations of the same disease, including the differentiation of distinct molecular Grade 4 gliomas. This could imply different clinical outcomes and possibly impact targeted therapies in the years to come. Conclusion: Physicians face different challenging scenarios according to the clinical features of patients with gliomas. In addition to the current advances in clinical decision-making, including radiological and surgical techniques, understanding the disease's molecular pathogenesis is paramount to improving the benefits of its clinical treatments. This review aims to describe straightforwardly the most remarkable aspects of the molecular pathogenesis of diffuse gliomas.

10.
Rev. gastroenterol. Perú ; 43(3)jul. 2023.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1536348

RESUMO

Gastric cancer is a multifactorial disease with important genetic and environmental factors. It is the fifth most common cancer in incidence, and the fourth cause of death secondary to cancer. The incidence of early-onset gastric cancer is increasing worldwide, but clinical information on these patients has not been well established. We analyzed the association between age and clinical, endoscopic, and histopathological characteristics of gastric cancer at the time of diagnosis in a Latin American population. A retrospective and descriptive cross-sectional study was carried out using the database of the Gastroenterology Service of the Clínica Foscal and Clínica Foscal Internacional in Bucaramanga, Colombia. Between January 2016 and December 2019, 259 de novo gastric cancer cases were diagnosed, of which 36 patients (13.9%) were 40 years old or younger. In patients with early-onset gastric, the prevalence of gastric cancer diagnosis was lower in men. A family history of gastric cancer or any other neoplasm was not associated with a higher prevalence of gastric neoplasms. In young patients, vomiting and ascites were more common, the preferred anatomical location was the body of the stomach, and the Borrmann IV classification and the diffuse-type histology were more likely. Our study showed an approximation of the characteristics of early-onset gastric cancer in a Latin American population, where we observed that early-onset gastric cancer has different demographic, anatomical, and histological features than late-onset gastric cancer.


El cáncer gástrico es una enfermedad multifactorial con importantes factores genéticos y ambientales. Es el quinto cáncer más común en incidencia y la cuarta causa de muerte secundaria al cáncer. La incidencia del cáncer gástrico de inicio temprano está aumentando en todo el mundo, pero la información clínica sobre estos pacientes no está bien establecida. Analizamos la asociación entre la edad y las características clínicas, endoscópicas e histopatológicas del cáncer gástrico al momento del diagnóstico en una población latinoamericana. Se realizó un estudio retrospectivo y descriptivo de corte transversal utilizando la base de datos del Servicio de Gastroenterología de la Clínica Foscal y Clínica Foscal Internacional en Bucaramanga, Colombia. Entre enero de 2016 y diciembre de 2019 se diagnosticaron 259 casos de cáncer gástrico de novo, de los cuales 36 pacientes (13,9%) tenían 40 años o menos. En pacientes con enfermedad gástrica de inicio temprano, la prevalencia del diagnóstico de cáncer gástrico fue menor en los hombres. El antecedente familiar de cáncer gástrico o cualquier otra neoplasia no se asoció con una mayor prevalencia de neoplasias gástricas. En pacientes jóvenes fueron más frecuentes los vómitos y la ascitis, la localización anatómica preferida fue el cuerpo del estómago, siendo más probable la clasificación de Borrmann IV y la histología de tipo difuso. Nuestro estudio mostró una aproximación a las características del cáncer gástrico de inicio temprano en una población latinoamericana, donde observamos que el cáncer gástrico de inicio temprano tiene diferentes características demográficas, anatómicas e histológicas que el cáncer gástrico de inicio tardío.

11.
Cureus ; 15(1): e33635, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36788869

RESUMO

Metastatic involvement of clear cell renal cancer in the esophagus has been described in the literature as an uncommon condition. These usually present as late relapse causing clinical manifestations such as dysphagia and melena. We present the case of a 57-year-old man with a history of renal cell carcinoma who presented an early metastasis to the esophagus. In addition, we made a comparison of the reason for examination, time of relapse, and metastasis in other anatomical places of all the cases reported in the literature of esophageal involvement due to clear cell metastasis.

12.
Rev Esp Patol ; 56(1): 4-9, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36599599

RESUMO

INTRODUCTION AND OBJECTIVE: A new coronavirus produces a disease designated as coronavirus disease 2019 (COVID-19). Vaccination against COVID-19 has resulted in decreased mortality. Postmortems of vaccinated patients play an important part in the forensic analysis of adverse effects after vaccination, which is essential for determining its efficacy and security. The main objective of this study was to describe the results of autopsies of patients vaccinated for SARS-CoV-2 carried out in two major centers in Colombia. MATERIALS AND METHODS: A descriptive cross-sectional study of 121 autopsies was performed following Colombian regulations in two main hospitals in Bogotá, Colombia, between March 1st and April 31st, 2021. RESULTS: 118 of the 121 patients (97.52%) had been vaccinated with CoronaVac (Sinovac); only 3 had received other vaccines. Sudden cardiac death was the leading cause of death, with pulmonary embolism another critical finding. No relation between the cause of death and vaccination against SARS-CoV-2 was found. CONCLUSIONS: A clinical autopsy is a vital for an accurate post-mortem diagnosis. Any relation between the SARS-CoV-2 vaccine and the cause of death should be carefully studied in order to provide the general public with evidence-based information about the safety of the vaccination.


Assuntos
COVID-19 , SARS-CoV-2 , Humanos , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Colômbia/epidemiologia , Estudos Transversais
13.
Rev. colomb. cancerol ; 27(1)2023. ilus, tab
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1452549

RESUMO

Las metástasis tumor a tumor (MTT) corresponden a un evento poco frecuente en el cual se presenta metástasis de un tumor primario a otro tumor primario, bien sea benigno o maligno. El carcinoma de pulmón es un receptor poco habitual, pero uno de los donantes más frecuentes. En el presente articulo presentamos tres casos de MTT como órgano receptor el pulmón: el primero, de una mujer con antecedente de carcinoma papilar de tiroides y carcinoma ductal in situ de la mama, con presencia de MTT y carcinoma papilar de tiroides a un adenocarcinoma primario pulmonar. El segundo caso, es una mujer con MTT de carcinoma ductal de mama a un adenocarcinoma primario pulmonar. Y el tercero, de un MTT de un carcinoma ductal de mama a un hamartoma pulmonar. En los tres casos, fue fundamental la correlación clínico-patológica y los estudios complementarios de inmunohistoquímica.


Tumor-to-tumor metastases (TTM) correspond to a rare event in which a primary tumor metastasizes to another primary tumor, whether benign or malignant. Lung carcinoma is an unusual recipient, but one of the most frequent donors. In this article, we present three cases of TTM to the lung: the first one is of a woman with a history of papillary thyroid carcinoma and ductal carcinoma in situ of the breast, with the presence of TTM and papillary thyroid carcinoma to a primary adenocarcinoma of the lung. The second case is of a woman with TTM from ductal carcinoma of the breast to a primary pulmonary adenocarcinoma, and the third is TTM from a breast ductal carcinoma to a pulmonary hamartoma. In all three cases, the clinical-pathological connection and complementary immunohistochemical studies were essential


Assuntos
Feminino
14.
Cureus ; 14(11): e31609, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36540528

RESUMO

Familial adenomatous polyposis (FAP) is an autosomal inheritance disease characterized by 100 or more adenomatous polyps in the colon and rectum with a high risk of developing colorectal carcinoma (CRC). The management of this disease is based on early screening and timely follow up, with subsequent planning of risk-reducing or therapeutic surgeries. We present a case of a patient with a strong family history of FAP with a "de novo" diagnosis of CRC. Furthermore, a literature discussion of current and future perspectives of treatment is performed.

15.
Transl Lung Cancer Res ; 11(10): 2148-2163, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-36386461

RESUMO

Background: Lung cancer is a public health problem worldwide. Currently, identifying genetic mutations in the epidermal growth factor receptor (EGFR) has brought significant changes in diagnosing and managing patients with lung cancer. The presence of multiple mutations, defined as the presence of more than one EGFR mutation, has been reported in a few studies. Therefore, we carried out this systematic review to describe the most common multiple mutations in the EGFR gene. Methods: We conduct a systematic review of descriptive studies, cohorts, and clinical trials published in Scopus, PubMed, Scielo, and Virtual Health Library literature. The inclusion criteria for the systematic review were descriptive studies, cohorts, and clinical trials with the presence of multiple mutations in the EGFR gene. It was followed the Preferred Reporting Items for Systematic Meta-Analyses (PRISMA) guidelines. Results: In the systematic review, 41 articles were included. Four hundred and forty-six cases with multiple mutations in the EGFR gene were found (0.95% of the patients included in the studies). The most prevalent dual mutations observed were T790M + L858R and deletions in exon 19 + T790M. Triple mutations were found in 9 cases (2.017%). According to reports, the presence of T790M mutation in the multiple mutations has been associated with poor clinical outcomes. Discussion: The presence of multiple mutations in the EGFR gene is rare. It is of great importance to consider the T790M mutation since it generates resistance to pharmacological management and has worse outcomes. The most important limitation was that clinical information data and follow-up could not be collected in a large percentage of patients. Therefore, future work should be focused on clinical characteristics, follow-up and repercussions in the treatment of patients with multiple mutations.

16.
Rev. colomb. neumol ; 34(2): 80-85, July-Dec. 2022.
Artigo em Espanhol | LILACS, COLNAL | ID: biblio-1412783

RESUMO

El adenocarcinoma primario de pulmón con células en anillo de sello representa una variante rara y muy agresiva de cáncer de pulmón. El carcinoma de células en anillo de sello es un tipo particular de adenocarcinoma secretor de mucina, que se deposita intracitoplasmáticamente y desplaza el núcleo hacia la periferia de la célula. El origen pulmonar de este subtipo tumoral es raro y el hallazgo de reordenamiento de ALK es una asociación común. Presentamos dos casos de adenocarcinomas mucinosos primarios de pulmón con células en anillo de sello y reordenamiento de ALK. Todos los pacientes con cáncer de pulmón deben contar con estudios histopatológicos, inmunohistoquímicos y de biología molecular con los que se puedan obtener las principales características del tumor, que permitan ofrecer la mejor opción terapéutica para el paciente.


Primary adenocarcinoma of the lung with signet-ring cells represents a rare and highly aggressive variant of lung cancer. Signet­ring cell carcinoma is a particular type of mucin­secreting adenocarcinoma, which is deposited intracytoplasmatically and displaces the nucleus towards the periphery of the cell. The pulmonary origin of this tumor subtype is rare, and the finding of ALK rearrangement is a common association. We present two cases of primary mucinous adenocarcinomas of the lung with signet-ring cells and ALK rearrangement. All patients with lung cancer must have histopathological, immunohistochemical, and molecular biology studies with which the main features of the tumor can be obtained, which allow the clinician to offer the best possible treatment for the patient.


Assuntos
Humanos , Adenocarcinoma , Pulmão , Carcinoma de Células em Anel de Sinete
17.
Rev. esp. patol ; 55(4): 230-235, Oct-Dic. 2022. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-210610

RESUMO

Background: Infections are an important cause of mortality in patients with autoimmune diseases and opportunistic infections account for a large percentage of these cases. It is often a clinical challenge to find a balance between immunosuppressive therapy and the risk of developing an infectious process. Methods: A retrospective, descriptive study of autopsy reports. Results: 15 patients with a premortem diagnosis of autoimmune disease were included. All patients died due to an opportunistic infection. The most commonly reported infection was tuberculosis, followed by invasive fungal infections. Conclusions: The most prevalent pathogens were found in our autopsy-based study of patients with autoimmune diseases and opportunistic infections. Prevention and early detection strategies are vital in order to reach a correct diagnosis and begin the appropriate treatment as soon as possible.(AU)


Antecedentes: Las infecciones son una causa importante de mortalidad en pacientes con enfermedades autoinmunes. Las infecciones oportunistas engloban un gran porcentaje de estos casos. Encontrar un equilibrio entre la terapia inmunosupresora y el riesgo de desarrollar procesos infecciosos normalmente constituye un desafío clínico. Métodos: Estudio retrospectivo y descriptivo de informes de autopsias. Resultados: Se incluyó a 15 pacientes con diagnóstico pre mortem de enfermedad autoinmune. Todos los pacientes fallecieron debido a infecciones oportunistas. La infección más frecuentemente reportada fue la tuberculosis, seguida de infecciones fúngicas invasivas. Conclusiones: En este estudio basado en autopsias, realizado en pacientes con enfermedades autoinmunes e infecciones oportunistas, se recogieron los patógenos más prevalentes. Es clave establecer estrategias de prevención y detección temprana en estos grupos de pacientes para realizar un diagnóstico precoz e introducir con prontitud el tratamiento adecuado.(AU)


Assuntos
Humanos , Autopsia , Infecções Oportunistas , Doenças Autoimunes , Terapia de Imunossupressão , Tuberculose , Micoses , Epidemiologia Descritiva , Estudos Retrospectivos , Patologia , Serviço Hospitalar de Patologia , Colômbia
18.
Rev. esp. patol ; 55(4): 288-291, Oct-Dic. 2022. ilus
Artigo em Espanhol | IBECS | ID: ibc-210621

RESUMO

El tumor fibroso solitario es una neoplasia de origen mesenquimal que suele darse en la pleura y que normalmente tiene un curso benigno. La localización intrapulmonar es rara y aún más raro es el patrón adenofibromatoso. Presentamos un caso de un tumor fibroso solitario intrapulmonar con características adenofibromatosas en un paciente con antecedente de adenocarcinoma de próstata. El tumor mostró características inmunohistoquímicas de positividad para STAT6, CD34 y Bcl-2.(AU)


Solitary fibrous tumor is a neoplasm of mesenchymal origin that generally occurs in the pleura and is usually benign. An intrapulmonary location is rare and the adenofibromatous pattern is even more infrequent. We present a case of a solitary intrapulmonary fibrous tumor with adenofibromatous characteristics in a patient with a history of adenocarcinoma of the prostate. Immunohistochemically, the tumor was positive for STAT6, CD34 and Bcl-2.(AU)


Assuntos
Humanos , Masculino , Idoso , Tumor Fibroso Solitário Pleural , Adenofibroma , Pacientes Internados , Exame Físico , Avaliação de Sintomas , Anamnese , Prostatectomia , Tomografia Computadorizada por Raios X , Patologia , Serviço Hospitalar de Patologia , Neoplasias
19.
Rev Esp Patol ; 55(4): 230-235, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36154728

RESUMO

BACKGROUND: Infections are an important cause of mortality in patients with autoimmune diseases and opportunistic infections account for a large percentage of these cases. It is often a clinical challenge to find a balance between immunosuppressive therapy and the risk of developing an infectious process. METHODS: A retrospective, descriptive study of autopsy reports. RESULTS: 15 patients with a premortem diagnosis of autoimmune disease were included. All patients died due to an opportunistic infection. The most commonly reported infection was tuberculosis, followed by invasive fungal infections. CONCLUSIONS: The most prevalent pathogens were found in our autopsy-based study of patients with autoimmune diseases and opportunistic infections. Prevention and early detection strategies are vital in order to reach a correct diagnosis and begin the appropriate treatment as soon as possible.


Assuntos
Doenças Autoimunes , Infecções Oportunistas , Doenças Autoimunes/complicações , Autopsia , Causas de Morte , Humanos , Estudos Retrospectivos
20.
Rev Esp Patol ; 55(4): 288-291, 2022.
Artigo em Espanhol | MEDLINE | ID: mdl-36154739

RESUMO

Solitary fibrous tumor is a neoplasm of mesenchymal origin that generally occurs in the pleura and is usually benign. An intrapulmonary location is rare and the adenofibromatous pattern is even more infrequent. We present a case of a solitary intrapulmonary fibrous tumor with adenofibromatous characteristics in a patient with a history of adenocarcinoma of the prostate. Immunohistochemically, the tumor was positive for STAT6, CD34 and Bcl-2.


Assuntos
Tumores Fibrosos Solitários , Antígenos CD34 , Humanos , Masculino , Próstata/patologia , Proteínas Proto-Oncogênicas c-bcl-2 , Tumores Fibrosos Solitários/patologia
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