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1.
Front Endocrinol (Lausanne) ; 15: 1258233, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38841301

RESUMO

Technetium-99m sestamibi single-photon emission computed tomography/computed tomography (99mTc-sestamibi SPECT/CT) is a mainstay of the pre-operative localization of parathyroid lesions. We report here the case of a 30 year-old woman with a fortuitously discovered 2 cm cervical mass for which a parathyroid origin was originally suspected due to its retro-thyroidal localization and a personal history of nephrolithiasis. Normal serum calcium and parathyroid hormone (PTH) levels excluded primary hyperparathyroidism, raising suspicion of a non-functional parathyroid adenoma, and SPECT/CT imaging showed that the mass was 99mTc-sestamibi-avid. Fine-needle aspiration (FNA) was performed; cytology was non-diagnostic but the needle washout was negative for thyroglobulin, calcitonin and PTH, arguing against a thyroidal or parathyroidal origin of the mass. Core needle biopsy revealed a schwannoma, ostensibly originating from the recurrent laryngeal nerve; upon surgical resection, it was finally found to arise from the esophageal submucosa. This case illustrates the fact that endocrinologists, radiologists, nuclear medicine, head and neck, and other specialists investigating patients with cervical masses should be aware that schwannomas need to be considered in the differential diagnosis of focal 99mTc-sestamibi uptake in the neck region.


Assuntos
Adenoma , Neurilemoma , Neoplasias das Paratireoides , Tecnécio Tc 99m Sestamibi , Humanos , Feminino , Neoplasias das Paratireoides/diagnóstico por imagem , Neoplasias das Paratireoides/patologia , Neoplasias das Paratireoides/cirurgia , Neoplasias das Paratireoides/diagnóstico , Adulto , Neurilemoma/diagnóstico por imagem , Neurilemoma/patologia , Neurilemoma/diagnóstico , Diagnóstico Diferencial , Adenoma/diagnóstico por imagem , Adenoma/diagnóstico , Adenoma/patologia , Adenoma/metabolismo , Neoplasias Esofágicas/diagnóstico por imagem , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/cirurgia , Tomografia Computadorizada com Tomografia Computadorizada de Emissão de Fóton Único , Compostos Radiofarmacêuticos
2.
BMJ ; 385: e074962, 2024 06 03.
Artigo em Inglês | MEDLINE | ID: mdl-38830686

RESUMO

Esophageal cancer is the seventh most common malignancy worldwide, with over 470 000 new cases diagnosed each year. Two distinct histological subtypes predominate, and should be considered biologically separate disease entities.1 These subtypes are esophageal adenocarcinoma (EAC) and esophageal squamous cell carcinoma (ESCC). Outcomes remain poor regardless of subtype, with most patients presenting with late stage disease.2 Novel strategies to improve early detection of the respective precursor lesions, squamous dysplasia, and Barrett's esophagus offer the potential to improve outcomes. The introduction of a limited number of biologic agents, as well as immune checkpoint inhibitors, is resulting in improvements in the systemic treatment of locally advanced and metastatic esophageal cancer. These developments, coupled with improvements in minimally invasive surgical and endoscopic treatment approaches, as well as adaptive and precision radiotherapy technologies, offer the potential to improve outcomes still further. This review summarizes the latest advances in the diagnosis and management of esophageal cancer, and the developments in understanding of the biology of this disease.


Assuntos
Adenocarcinoma , Neoplasias Esofágicas , Humanos , Neoplasias Esofágicas/terapia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Adenocarcinoma/terapia , Adenocarcinoma/diagnóstico , Adenocarcinoma/patologia , Carcinoma de Células Escamosas do Esôfago/terapia , Carcinoma de Células Escamosas do Esôfago/diagnóstico , Carcinoma de Células Escamosas do Esôfago/patologia , Esofagoscopia/métodos , Esôfago de Barrett/terapia , Esôfago de Barrett/diagnóstico , Esôfago de Barrett/patologia
3.
World J Gastroenterol ; 30(20): 2638-2656, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38855150

RESUMO

As a highly invasive carcinoma, esophageal cancer (EC) was the eighth most prevalent malignancy and the sixth leading cause of cancer-related death worldwide in 2020. Esophageal squamous cell carcinoma (ESCC) is the major histological subtype of EC, and its incidence and mortality rates are decreasing globally. Due to the lack of specific early symptoms, ESCC patients are usually diagnosed with advanced-stage disease with a poor prognosis, and the incidence and mortality rates are still high in many countries, especially in China. Therefore, enormous challenges still exist in the management of ESCC, and novel strategies are urgently needed to further decrease the incidence and mortality rates of ESCC. Although the key molecular mechanisms underlying ESCC pathogenesis have not been fully elucidated, certain promising biomarkers are being investigated to facilitate clinical decision-making. With the advent and advancement of high-throughput technologies, such as genomics, proteomics and metabolomics, valuable biomarkers with high sensitivity, specificity and stability could be identified for ESCC. Herein, we aimed to determine the epidemiological features of ESCC in different regions of the world, especially in China, and focused on novel molecular biomarkers associated with ESCC screening, early diagnosis and prognosis prediction.


Assuntos
Biomarcadores Tumorais , Detecção Precoce de Câncer , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Humanos , Carcinoma de Células Escamosas do Esôfago/epidemiologia , Carcinoma de Células Escamosas do Esôfago/diagnóstico , Carcinoma de Células Escamosas do Esôfago/mortalidade , Carcinoma de Células Escamosas do Esôfago/patologia , Neoplasias Esofágicas/epidemiologia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/mortalidade , Neoplasias Esofágicas/patologia , Prognóstico , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Detecção Precoce de Câncer/métodos , China/epidemiologia , Incidência , Fatores de Risco
4.
BMC Cancer ; 24(1): 668, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38824512

RESUMO

BACKGROUND: Gastrointestinal cancers represent one of the most prevalent diseases worldwide. Strikingly, the incidence of Early Onset Gastrointestinal Cancer (EOGIC) has been rising during the last decades and changes in lifestyle and environmental exposure seem to play a role. EOGIC has been defined as a different entity compared to on-average gastrointestinal cancer, with distinct clinical and molecular characteristics. Inherent to the particularities of younger age, there is an unmet need for a tailored approach for the management of these patients. The TEOGIC proposes a comprehensive study to characterize EOGIC patients in the northern of Spain. METHODS: Patients with histologically confirmed new diagnosis of colorectal, gastroesophageal and pancreatic adenocarcinoma will be considered for two cohorts: EOGIC (≤ 50 years old) and non-EOGIC (60-75 years old), with a ratio of 1:2. Two hundred and forty patients will be recruited in 4 Public Hospitals from northern Spain. After receiving unified informed consent, demographic and clinical data of the patients will be collected in a REDCap database. Lifestyle related data will be obtained in questionnaires assessing diet, physical activity and the general quality of life of the patients before diagnosis. Biological samples prior to any onco-specific treatment will be obtained for the analyses of circulating inflammatory proteins, gut microbiota, and the proteome of the tumor microenvironment. Histologic characteristics and routine biomarkers will be also collected. Thereafter, data will be integrated and analyzed to assess tumor specific, pan-tumor and sex-associated differential characteristics of EOGIC. DISCUSSION: The underlying risk factors and differential characteristics of EOGIC remain poorly studied, particularly in our geographical area. Although limited by the exploratory nature and the small sample size estimated to be recruited, TEOGIC represents the first attempt to comprehensively characterize these young patients, and thus attend to their special needs. Findings derived from this study could contribute to raise awareness and preventive behaviors in the population. In parallel, molecular studies could lead to the identification of potential novel non-invasive biomarkers and therapeutic targets that would help in the development of the tailored clinical management of these patients, focusing on screening programs for early diagnosis and precision medicine.


Assuntos
Neoplasias Gastrointestinais , Humanos , Espanha/epidemiologia , Pessoa de Meia-Idade , Masculino , Feminino , Idoso , Neoplasias Gastrointestinais/epidemiologia , Neoplasias Gastrointestinais/diagnóstico , Neoplasias Gastrointestinais/patologia , Neoplasias Gastrointestinais/terapia , Adulto , Idade de Início , Estilo de Vida , Adenocarcinoma/epidemiologia , Adenocarcinoma/diagnóstico , Adenocarcinoma/patologia , Adenocarcinoma/terapia , Microambiente Tumoral , Qualidade de Vida , Incidência , Biomarcadores Tumorais , Neoplasias Esofágicas/epidemiologia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/terapia , Neoplasias Pancreáticas/epidemiologia , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/patologia
6.
Sci Rep ; 14(1): 13796, 2024 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-38877096

RESUMO

To explore the hub comorbidity genes and potential pathogenic mechanisms of hypopharyngeal carcinoma with esophageal carcinoma, and evaluate their diagnostic value for hypopharyngeal carcinoma with co-morbid esophageal carcinoma. We performed gene sequencing on tumor tissues from 6 patients with hypopharyngeal squamous cell carcinoma with esophageal squamous cell carcinoma (hereafter referred to as "group A") and 6 patients with pure hypopharyngeal squamous cell carcinoma (hereafter referred to as "group B"). We analyzed the mechanism of hub genes in the development and progression of hypopharyngeal squamous cell carcinoma with esophageal squamous cell carcinoma through bioinformatics, and constructed an ROC curve and Nomogram prediction model to analyze the value of hub genes in clinical diagnosis and treatment. 44,876 genes were sequenced in 6 patients with group A and 6 patients with group B. Among them, 76 genes showed significant statistical differences between the group A and the group B.47 genes were expressed lower in the group A than in the group B, and 29 genes were expressed higher. The top five hub genes were GABRG2, CACNA1A, CNTNAP2, NOS1, and SCN4B. GABRG2, CNTNAP2, and SCN4B in the hub genes have high diagnostic value in determining whether hypopharyngeal carcinoma patients have combined esophageal carcinoma (AUC: 0.944, 0.944, 0.972). These genes could possibly be used as potential molecular markers for assessing the risk of co-morbidity of hypopharyngeal carcinoma combined with esophageal carcinoma.


Assuntos
Neoplasias Esofágicas , Regulação Neoplásica da Expressão Gênica , Neoplasias Hipofaríngeas , Humanos , Neoplasias Hipofaríngeas/genética , Neoplasias Hipofaríngeas/patologia , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/diagnóstico , Masculino , Feminino , Pessoa de Meia-Idade , Carcinoma de Células Escamosas do Esôfago/genética , Carcinoma de Células Escamosas do Esôfago/patologia , Biomarcadores Tumorais/genética , Idoso , Análise de Sequência de RNA/métodos , Perfilação da Expressão Gênica , Biologia Computacional/métodos , Nomogramas
7.
Zhonghua Zhong Liu Za Zhi ; 46(6): 549-565, 2024 Jun 23.
Artigo em Chinês | MEDLINE | ID: mdl-38880735

RESUMO

Objectives: To develop and validate predictive models for esophageal squamous cell carcinoma (ESCC) using circulating cell-free DNA (cfDNA) terminal motif analysis. The goal was to improve the non-invasive detection of early-stage ESCC and its precancerous lesions. Methods: Between August 2021 and November 2022, we prospectively collected plasma samples from 448 individuals at the Department of Endoscopy, Cancer Hospital, Chinese Academy of Medical Sciences for cfDNA extraction, library construction, and sequencing. We analyzed 201 cases of ESCC, 46 high-grade intraepithelial neoplasia (HGIN), 46 low-grade intraepithelial neoplasia (LGIN), 176 benign esophageal lesions, and 29 healthy controls. Participants, including ESCC patients and control subjects, were randomly assigned to a training set (n=284) and a validation set (n=122). The training cohort underwent z-score normalization of cfDNA terminal motif matrices and a selection of distinctive features differentiated ESCC cases from controls. The random forest classifier, Motif-1 (M1), was then developed through principal component analysis, ten-fold cross-validation, and recursive feature elimination. M1's efficacy was then validated in the validation and precancerous lesion sets. Subsequently, individuals with precancerous lesions were included in the dataset and participants were randomly allocated to newly formed training (n=243), validation (n=105), and test (n=150) cohorts. Using the same procedure as M1, we trained the Motif-2 (M2) random forest model with the training cohort. The M2 model's accuracy was then confirmed in the validation cohort to establish the optimal threshold and further tested by performing validation in the test cohort. Results: We developed two cfDNA terminal motif-based predictive models for ESCC and associated precancerous conditions. The first model, M1, achieved a sensitivity of 90.0%, a specificity of 77.4%, and an area under the curve (AUC) of 0.884 in the validation cohort. For LGIN, HGIN, and T1aN0 stage ESCC, M1's sensitivities were 76.1%, 80.4%, and 91.2% respectively. Notably, the sensitivity for jointly predicting HGIN and T1aN0 ESCC reached 85.0%. Both the predictive accuracy and sensitivity increased in line with the cancer's progression (P<0.001). The second model, M2, exhibited a sensitivity of 87.5%, a specificity of 77.4%, and an AUC of 0.857 in the test cohort. M2's sensitivities for detecting precancerous lesions and ESCC were 80.0% and 89.7%, respectively, and it showed a combined sensitivity of 89.4% for HGIN and T1aN0 stage ESCC. Conclusions: Two predictive models based on cfDNA terminal motif analysis for ESCC and its precancerous lesions are developed. They both show high sensitivity and specificity in identifying ESCC and its precancerous stages, indicating its potential for early ESCC detection.


Assuntos
Ácidos Nucleicos Livres , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Lesões Pré-Cancerosas , Humanos , Carcinoma de Células Escamosas do Esôfago/genética , Carcinoma de Células Escamosas do Esôfago/sangue , Carcinoma de Células Escamosas do Esôfago/diagnóstico , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/sangue , Neoplasias Esofágicas/diagnóstico , Lesões Pré-Cancerosas/sangue , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/genética , Ácidos Nucleicos Livres/sangue , Detecção Precoce de Câncer/métodos , Biomarcadores Tumorais/sangue , Masculino , Feminino , Carcinoma in Situ/sangue , Carcinoma in Situ/diagnóstico , Carcinoma in Situ/genética , Carcinoma in Situ/patologia
8.
Br J Surg ; 111(5)2024 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-38736137

RESUMO

BACKGROUND: Barrett's oesophagus surveillance places significant burden on endoscopy services yet is vital to detect early cancerous change. Oesophageal cell collection device (OCCD) testing was introduced across Scotland for Barrett's surveillance in response to the COVID-19 pandemic. This national pragmatic retrospective study presents the CytoSCOT programme results and evaluates whether OCCD testing is successfully identifying high-risk Barrett's patients requiring urgent endoscopy. METHODS: All patients undergoing OCCD testing for Barrett's surveillance across 11 Scottish health boards over a 32-month period were identified. Patients who underwent endoscopy within 12 months of OCCD test were included. Individual patient records were interrogated to record clinical information and OCCD test result to categorize patients into risk groups. Endoscopic histopathology results were analysed according to risk group and segment length. Patients were deemed high risk if the OCCD test demonstrated atypia and/or p53 positivity. RESULTS: 4204 OCCD tests were performed in 3745 patients: 608 patients underwent endoscopy within 12 months and were included in this analysis. Patients with longer Barrett's segments were significantly more likely to have an abnormal OCCD test. 50/608 patients (8.2%) had high-grade dysplasia or cancer on endoscopic biopsies: this equates to 1.3% of the total group (50/3745). 46/50 patients (92.0%) were deemed high risk, triggering urgent endoscopy: this rose to 100% with insufficient tests removed. There were no cancers diagnosed within 12 months post-OCCD in the low-risk group. CONCLUSION: OCCD testing is an effective triage tool to identify high-risk patients with Barrett's oesophagus requiring further investigation with endoscopy within the real-world setting.


Assuntos
Esôfago de Barrett , Neoplasias Esofágicas , Esofagoscopia , Humanos , Esôfago de Barrett/patologia , Esôfago de Barrett/diagnóstico , Masculino , Feminino , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso , Esofagoscopia/métodos , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , COVID-19/diagnóstico , Escócia/epidemiologia , Biomarcadores/metabolismo , Medição de Risco , Esôfago/patologia , Detecção Precoce de Câncer/métodos , Adulto
9.
PeerJ ; 12: e17272, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38699187

RESUMO

Background: Esophageal squamous cell carcinoma (ESCC) is highly prevalent and has a high mortality rate. Traditional diagnostic methods, such as imaging examinations and blood tumor marker tests, are not effective in accurately diagnosing ESCC due to their low sensitivity and specificity. Esophageal endoscopic biopsy, which is considered as the gold standard, is not suitable for screening due to its invasiveness and high cost. Therefore, this study aimed to develop a convenient and low-cost diagnostic method for ESCC using plasma-based lipidomics analysis combined with machine learning (ML) algorithms. Methods: Plasma samples from a total of 40 ESCC patients and 31 healthy controls were used for lipidomics study. Untargeted lipidomics analysis was conducted through liquid chromatography-mass spectrometry (LC-MS) analysis. Differentially expressed lipid features were filtered based on multivariate and univariate analysis, and lipid annotation was performed using MS-DIAL software. Results: A total of 99 differential lipids were identified, with 15 up-regulated lipids and 84 down-regulated lipids, suggesting their potential as diagnostic targets for ESCC. In the single-lipid plasma-based diagnostic model, nine specific lipids (FA 15:4, FA 27:1, FA 28:7, FA 28:0, FA 36:0, FA 39:0, FA 42:0, FA 44:0, and DG 37:7) exhibited excellent diagnostic performance, with an area under the curve (AUC) exceeding 0.99. Furthermore, multiple lipid-based ML models also demonstrated comparable diagnostic ability for ESCC. These findings indicate plasma lipids as a promising diagnostic approach for ESCC.


Assuntos
Biomarcadores Tumorais , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Lipidômica , Humanos , Carcinoma de Células Escamosas do Esôfago/sangue , Carcinoma de Células Escamosas do Esôfago/diagnóstico , Neoplasias Esofágicas/sangue , Neoplasias Esofágicas/diagnóstico , Masculino , Lipidômica/métodos , Feminino , Biomarcadores Tumorais/sangue , Estudos Retrospectivos , Pessoa de Meia-Idade , Idoso , Aprendizado de Máquina , Lipídeos/sangue , Cromatografia Líquida , Estudos de Casos e Controles
10.
Nat Commun ; 15(1): 3700, 2024 May 02.
Artigo em Inglês | MEDLINE | ID: mdl-38697989

RESUMO

Detecting early-stage esophageal squamous cell carcinoma (ESCC) and precancerous lesions is critical for improving survival. Here, we conduct whole-genome bisulfite sequencing (WGBS) on 460 cfDNA samples from patients with non-metastatic ESCC or precancerous lesions and matched healthy controls. We develop an expanded multimodal analysis (EMMA) framework to simultaneously identify cfDNA methylation, copy number variants (CNVs), and fragmentation markers in cfDNA WGBS data. cfDNA methylation markers are the earliest and most sensitive, detectable in 70% of ESCCs and 50% of precancerous lesions, and associated with molecular subtypes and tumor microenvironments. CNVs and fragmentation features show high specificity but are linked to late-stage disease. EMMA significantly improves detection rates, increasing AUCs from 0.90 to 0.99, and detects 87% of ESCCs and 62% of precancerous lesions with >95% specificity in validation cohorts. Our findings demonstrate the potential of multimodal analysis of cfDNA methylome for early detection and monitoring of molecular characteristics in ESCC.


Assuntos
Biomarcadores Tumorais , Variações do Número de Cópias de DNA , Metilação de DNA , Detecção Precoce de Câncer , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Lesões Pré-Cancerosas , Humanos , Carcinoma de Células Escamosas do Esôfago/genética , Carcinoma de Células Escamosas do Esôfago/diagnóstico , Lesões Pré-Cancerosas/genética , Lesões Pré-Cancerosas/diagnóstico , Lesões Pré-Cancerosas/patologia , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Masculino , Detecção Precoce de Câncer/métodos , Feminino , Biomarcadores Tumorais/genética , Pessoa de Meia-Idade , Idoso , Epigenoma , Ácidos Nucleicos Livres/genética , Ácidos Nucleicos Livres/sangue , Sequenciamento Completo do Genoma/métodos , Microambiente Tumoral/genética
11.
Surg Oncol Clin N Am ; 33(3): 467-485, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38789190

RESUMO

The initial endoscopic and staging evaluation of esophagogastric cancers must be accurate and comprehensive in order to select the optimal therapeutic plan for the patient. Esophageal and gastric cancers (and treatment paradigms) are delineated by their proximity to the cardia (within 2 cm). The most frequent and important symptom that informs the initial staging evaluation is dysphagia, which is associated with at least cT3 or locally advanced disease. Endoscopic ultrasound is often needed if earlier stage disease is suspected, preferably in combination with endoscopic mucosal or submucosal resection or fine-needle aspiration of suspicious lymph nodes to enhance staging accuracy.


Assuntos
Neoplasias Esofágicas , Estadiamento de Neoplasias , Neoplasias Gástricas , Humanos , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/diagnóstico , Neoplasias Gástricas/patologia , Neoplasias Gástricas/diagnóstico , Estadiamento de Neoplasias/métodos , Endossonografia/métodos
12.
Immun Inflamm Dis ; 12(5): e1266, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38804848

RESUMO

BACKGROUND: Esophageal cancer (ESCA) is a highly invasive malignant tumor with poor prognosis. This study aimed to discover a generalized and high-sensitivity immune prognostic signature that could stratify ESCA patients and predict their overall survival, and to discover potential therapeutic drugs by the connectivity map. METHODS: The key gene modules significantly related to clinical traits (survival time and state) of ESCA patients were selected by weighted gene coexpression network analysis (WCGNA), then the univariate and least absolute shrinkage and selection operator (LASSO) Cox regression analyses were used to construct a 15-immune-related gene prognostic signature. RESULTS: The immune-related risk model was related to clinical and pathologic factors and remained an effective independent prognostic factor. Enrichment analyses revealed that the differentially expressed genes (DEGs) of the high- and low-risk groups were associated with tumor cell proliferation and immune mechanisms. Based on the gathered data, a small molecule drug named perphenazine (PPZ) was elected. The pharmacological analysis indicates that PPZ could help in adjuvant therapy of ESCA through regulation of metabolic process and cellular proliferation, enhancement of immunologic functions, and inhibition of inflammatory reactions. Furthermore, molecular docking was performed to explore and verify the PPZ-core target interactions. CONCLUSION: We succeed in structuring the immune-related prognostic model, which could be used to distinguish and predict patients' survival outcome, and screening a small molecule drug named PPZ. Prospective studies also are needed to further validate its analytical accuracy for estimating prognoses and confirm the potential use of PPZ for treating ESCA.


Assuntos
Biologia Computacional , Neoplasias Esofágicas , Farmacologia em Rede , Neoplasias Esofágicas/genética , Neoplasias Esofágicas/tratamento farmacológico , Neoplasias Esofágicas/imunologia , Neoplasias Esofágicas/mortalidade , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Humanos , Prognóstico , Biologia Computacional/métodos , Redes Reguladoras de Genes , Regulação Neoplásica da Expressão Gênica , Perfilação da Expressão Gênica , Biomarcadores Tumorais/genética , Simulação de Acoplamento Molecular , Antineoplásicos/uso terapêutico , Antineoplásicos/farmacologia , Masculino , Feminino
13.
Am J Case Rep ; 25: e943392, 2024 May 22.
Artigo em Inglês | MEDLINE | ID: mdl-38773743

RESUMO

BACKGROUND Small cell carcinoma is an aggressive malignant neuroendocrine tumor that most commonly occurs in the lung. Primary small cell carcinoma of the esophagus (PSCCE) is rare and is an aggressive malignancy with poor prognosis and no clear management guidelines. This report describes the case of a 36-year-old man presenting with epigastric pain, dysphagia, and melena due to a primary esophageal small cell carcinoma. CASE REPORT A 36-year-old presented to the Emergency Department (ED) with epigastric pain associated with food intake. Initial workup was unremarkable, and a presumed clinical diagnosis of reflux esophagitis and peptic strictures was made, prompting empiric treatment with anti-secretory therapies. Despite these therapies, he presented to the emergency room with progressively worsening dysphagia. Endoscopic examination (EGD) revealed a large necrotic mass, and computed tomography (CT) imaging revealed liver metastasis. Biopsies from both the liver and esophageal masses confirmed small cell carcinoma. His clinical course was complicated by a broncho-esophageal fistula, leading to massive hemoptysis, necessitating intubation. Unfortunately, his condition deteriorated rapidly, and he chose to pursue hospice care. He died 3 months after his initial presentation. CONCLUSIONS This report has presented a rare case of primary esophageal small cell carcinoma and our approach to management. We highlight the importance of early diagnosis, supported by histopathology, and the need for management guidelines.


Assuntos
Dor Abdominal , Carcinoma de Células Pequenas , Transtornos de Deglutição , Neoplasias Esofágicas , Humanos , Masculino , Adulto , Transtornos de Deglutição/etiologia , Carcinoma de Células Pequenas/complicações , Carcinoma de Células Pequenas/diagnóstico , Neoplasias Esofágicas/complicações , Neoplasias Esofágicas/diagnóstico , Evolução Fatal , Dor Abdominal/etiologia , Neoplasias Hepáticas/complicações , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/secundário , Tomografia Computadorizada por Raios X
14.
J Assoc Physicians India ; 72(1): 104-105, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38736083

RESUMO

Esophageal tuberculosis (TB) is a rare manifestation of extrapulmonary TB, accounting for <0.2% of all TB cases. Esophageal TB most commonly presents with dysphagia, odynophagia, retrosternal pain, and systemic symptoms like decreased appetite, loss of weight, and low-grade fever as associated or other presentations. We report a similar case recently encountered as an elderly male patient presented with chronic dysphagia to solids, loss of appetite, and significant loss of weight. Radiological and endoscopy pictures looked like esophageal cancer with histopathological examination (twice) negative for the same. Diagnosis of esophageal TB was confirmed by GeneXpert Ultra of biopsy sample and histopathological examination was suggestive of granulomatous esophagitis. The patient improved on 6 months antitubercular therapy. The unique aspect of this case was how the lesion mimicked an esophageal carcinoma on imaging which posed a diagnostic challenge.


Assuntos
Antituberculosos , Humanos , Masculino , Antituberculosos/uso terapêutico , Tuberculose Gastrointestinal/diagnóstico , Tuberculose Gastrointestinal/tratamento farmacológico , Diagnóstico Diferencial , Idoso , Transtornos de Deglutição/etiologia , Neoplasias Esofágicas/diagnóstico , Doenças do Esôfago/diagnóstico
15.
Clin Lab Med ; 44(2): 239-254, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38821643

RESUMO

Upper gastroesophageal carcinomas consist of cancers arising from the esophagus and stomach. Squamous cell carcinomas and adenocarcinomas are seen in the esophagus and despite arising from the same organ have different biology. Gastric adenocarcinomas are categorized into 4 molecular subtypes: high Epstein-Barr virus load, microsatellite unstable cancers, chromosomal unstable (CIN) cancers, and genomically stable cancers. Genomically stable gastric cancers correlate highly with histologically defined diffuse-type cancers. Esophageal carcinomas and CIN gastric cancers often are driven by high-level amplifications of oncogenes and contain a high degree of intratumoral heterogeneity. Targeted therapeutics is an active area of research for gastroesophageal cancers.


Assuntos
Adenocarcinoma , Neoplasias Esofágicas , Neoplasias Gástricas , Humanos , Adenocarcinoma/patologia , Adenocarcinoma/diagnóstico , Adenocarcinoma/genética , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/genética , Neoplasias Gástricas/patologia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/genética
16.
Mol Cancer ; 23(1): 96, 2024 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-38730415

RESUMO

Accurate presurgical prediction of pathological complete response (pCR) can guide treatment decisions, potentially avoiding unnecessary surgeries and improving the quality of life for cancer patients. We developed a minimal residual disease (MRD) profiling approach with enhanced sensitivity and specificity for detecting minimal tumor DNA from cell-free DNA (cfDNA). The approach was validated in two independent esophageal squamous cell carcinoma (ESCC) cohorts. In a cohort undergoing neoadjuvant, surgical, and adjuvant therapy (NAT cohort), presurgical MRD status precisely predicted pCR. All MRD-negative cases (10/10) were confirmed as pCR by pathological evaluation on the resected tissues. In contrast, MRD-positive cases included all the 27 non-pCR cases and only one pCR case (10/10 vs 1/28, P < 0.0001, Fisher's exact test). In a definitive radiotherapy cohort (dRT cohort), post-dRT MRD status was closely correlated with patient prognosis. All MRD-negative patients (25/25) remained progression-free during the follow-up period, while 23 of the 26 MRD-positive patients experienced disease progression (25/25 vs 3/26, P < 0.0001, Fisher's exact test; progression-free survival, P < 0.0001, log-rank test). The MRD profiling approach effectively predicted the ESCC patients who would achieve pCR with surgery and those likely to remain progression-free without surgery. This suggests that the cancer cells in these MRD-negative patients have been effectively eliminated and they could be suitable candidates for a watch-and-wait strategy, potentially avoiding unnecessary surgery.


Assuntos
Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Neoplasia Residual , Humanos , Carcinoma de Células Escamosas do Esôfago/patologia , Carcinoma de Células Escamosas do Esôfago/terapia , Carcinoma de Células Escamosas do Esôfago/genética , Carcinoma de Células Escamosas do Esôfago/diagnóstico , Neoplasias Esofágicas/patologia , Neoplasias Esofágicas/terapia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/genética , Prognóstico , Masculino , Feminino , Resultado do Tratamento , Biomarcadores Tumorais , Pessoa de Meia-Idade , DNA Tumoral Circulante
17.
Spectrochim Acta A Mol Biomol Spectrosc ; 317: 124461, 2024 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-38759393

RESUMO

Esophageal cancer is one of the leading causes of cancer-related deaths worldwide. The identification of residual tumor tissues in the surgical margin of esophageal cancer is essential for the treatment and prognosis of cancer patients. But the current diagnostic methods, either pathological frozen section or paraffin section examination, are laborious, time-consuming, and inconvenient. Raman spectroscopy is a label-free and non-invasive analytical technique that provides molecular information with high specificity. Here, we report the use of a portable Raman system and machine learning algorithms to achieve accurate diagnosis of esophageal tumor tissue in surgically resected specimens. We tested five machine learning-based classification methods, including k-Nearest Neighbors, Adaptive Boosting, Random Forest, Principal Component Analysis-Linear Discriminant Analysis, and Support Vector Machine (SVM). Among them, SVM shows the highest accuracy (88.61 %) in classifying the esophageal tumor and normal tissues. The portable Raman system demonstrates robust measurements with an acceptable focal plane shift of up to 3 mm, which enables large-area Raman mapping on resected tissues. Based on this, we finally achieve successful Raman visualization of tumor boundaries on surgical margin specimens, and the Raman measurement time is less than 5 min. This work provides a robust, convenient, accurate, and cost-effective tool for the diagnosis of esophageal cancer tumors, advancing toward Raman-based clinical intraoperative applications.


Assuntos
Neoplasias Esofágicas , Aprendizado de Máquina , Análise Espectral Raman , Máquina de Vetores de Suporte , Análise Espectral Raman/métodos , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Humanos , Análise Discriminante , Análise de Componente Principal , Algoritmos
18.
Sci Transl Med ; 16(743): eadk5395, 2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38630847

RESUMO

Endoscopy is the primary modality for detecting asymptomatic esophageal squamous cell carcinoma (ESCC) and precancerous lesions. Improving detection rate remains challenging. We developed a system based on deep convolutional neural networks (CNNs) for detecting esophageal cancer and precancerous lesions [high-risk esophageal lesions (HrELs)] and validated its efficacy in improving HrEL detection rate in clinical practice (trial registration ChiCTR2100044126 at www.chictr.org.cn). Between April 2021 and March 2022, 3117 patients ≥50 years old were consecutively recruited from Taizhou Hospital, Zhejiang Province, and randomly assigned 1:1 to an experimental group (CNN-assisted endoscopy) or a control group (unassisted endoscopy) based on block randomization. The primary endpoint was the HrEL detection rate. In the intention-to-treat population, the HrEL detection rate [28 of 1556 (1.8%)] was significantly higher in the experimental group than in the control group [14 of 1561 (0.9%), P = 0.029], and the experimental group detection rate was twice that of the control group. Similar findings were observed between the experimental and control groups [28 of 1524 (1.9%) versus 13 of 1534 (0.9%), respectively; P = 0.021]. The system's sensitivity, specificity, and accuracy for detecting HrELs were 89.7, 98.5, and 98.2%, respectively. No adverse events occurred. The proposed system thus improved HrEL detection rate during endoscopy and was safe. Deep learning assistance may enhance early diagnosis and treatment of esophageal cancer and may become a useful tool for esophageal cancer screening.


Assuntos
Aprendizado Profundo , Neoplasias Esofágicas , Carcinoma de Células Escamosas do Esôfago , Lesões Pré-Cancerosas , Humanos , Pessoa de Meia-Idade , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/epidemiologia , Neoplasias Esofágicas/patologia , Carcinoma de Células Escamosas do Esôfago/patologia , Estudos Prospectivos , Lesões Pré-Cancerosas/patologia
19.
Korean J Gastroenterol ; 83(4): 157-162, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38659252

RESUMO

Mucosa-associated lymphoid tissue (MALT) lymphoma, also known as extranodal marginal zone lymphoma, is a low-grade B-cell lymphoma that can develop in the mucosal layer of various organs, including the gastrointestinal tract, salivary glands, lungs, and skin. The most common site is the gastrointestinal tract, particularly the stomach. On the other hand, primary esophageal lymphomas are extremely rare. MALT lymphomas can undergo histological transformation into more aggressive B-cell lymphomas, such as diffuse large B-cell lymphoma, resulting in a poor prognosis. This paper reports a rare case of primary esophageal MALT lymphoma mimicking a subepithelial tumor located in the lower esophagus that was treated successfully with radiotherapy. MALT lymphoma should be included in a differential diagnosis when subepithelial tumors are found in the esophagus, particularly if endoscopic ultrasonography reveals the tumor to be located in the deep mucosal and submucosal layers. Following the precise diagnosis, accurate staging and appropriate treatment are crucial. Regular follow-up is necessary to assess the possibility of recurrence or transformation to high-grade lymphoma.


Assuntos
Endossonografia , Neoplasias Esofágicas , Linfoma de Zona Marginal Tipo Células B , Tomografia Computadorizada por Raios X , Humanos , Linfoma de Zona Marginal Tipo Células B/diagnóstico , Linfoma de Zona Marginal Tipo Células B/patologia , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Diagnóstico Diferencial , Masculino , Pessoa de Meia-Idade
20.
Int J Mol Sci ; 25(8)2024 Apr 11.
Artigo em Inglês | MEDLINE | ID: mdl-38673838

RESUMO

Oesophageal cancer (OC) is the sixth leading cause of cancer-related death worldwide. OC is highly aggressive, primarily due to its late stage of diagnosis and poor prognosis for patients' survival. Therefore, the establishment of new biomarkers that will be measured with non-invasive techniques at low cost is a critical issue in improving the diagnosis of OC. In this review, we summarize several original studies concerning the potential significance of selected chemokines and their receptors, including inflammatory proteins such as interleukin-6 (IL-6) and C-reactive protein (CRP), hematopoietic growth factors (HGFs), claudins (CLDNs), matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs), adamalysines (ADAMs), as well as DNA- and RNA-based biomarkers, in OC. The presented results indicate the significant correlation between the CXCL12, CXCR4, CXCL8/CXCR2, M-CSF, MMP-2, MMP-9 ADAM17, ADAMTS-6, and CLDN7 levels and tumor stage, as well as the clinicopathological parameters of OC, such as the presence of lymph node and/or distant metastases. CXCL12, CXCL8/CXCR2, IL-6, TIMP-2, ADAM9, and ADAMTS-6 were prognostic factors for the overall survival of OC patients. Furthermore, IL-6, CXCR4, CXCL8, and MMP-9 indicate higher diagnostic utility based on the area under the ROC curve (AUC) than well-established OC tumor markers, whereas CLDN18.2 can be used in novel targeted therapies for OC patients.


Assuntos
Biomarcadores Tumorais , Neoplasias Esofágicas , Humanos , Neoplasias Esofágicas/metabolismo , Neoplasias Esofágicas/diagnóstico , Neoplasias Esofágicas/patologia , Biomarcadores Tumorais/metabolismo , Prognóstico
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