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1.
Clin Transl Oncol ; 26(9): 2205-2216, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38512449

RESUMO

PURPOSE: Small bowel adenocarcinoma (SBA) is a rare malignancy of the gastrointestinal tract, and its unique location within the small intestine presents difficulties in obtaining tissue samples from the lesions. This limitation hinders the research and development of effective clinical treatment methods. Circulating tumor DNA (ctDNA) analysis holds promise as an alternative approach for investigating SBA and guiding treatment decisions, thereby improving the prognosis of SBA. METHODS: Between January 2017 and August 2021, a total of 336 tissue or plasma samples were obtained and the corresponding mutation status in tissue or blood was evaluated with NGS. RESULTS AND CONCLUSIONS: The study found that in SBA tissues, the most commonly alternated genes were TP53, KRAS, and APC, and the most frequently affected pathways were RTK-RAS-MAPK, TP53, and WNT. Notably, the RTK-RAS-MAPK pathway was identified as a potential biomarker that could be targeted for treatment. Then, we validated the gene mutation profiling of ctDNA extracted from SBA patients exhibited the same characteristics as tissue samples for the first time. Subsequently, we applied ctDNA analysis on a terminal-stage patient who had shown no response to previous chemotherapy. After detecting alterations in the RTK-RAS-MAPK pathway in the ctDNA, the patient was treated with MEK + EGFR inhibitors and achieved a tumor shrinkage rate of 76.33%. Our study utilized the largest Chinese SBA cohort to uncover the molecular characteristics of this disease, which might facilitate clinical decision making for SBA patients.


Assuntos
Adenocarcinoma , DNA Tumoral Circulante , Neoplasias Intestinais , Mutação , Humanos , Adenocarcinoma/genética , Adenocarcinoma/patologia , Adenocarcinoma/tratamento farmacológico , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Neoplasias Intestinais/genética , Neoplasias Intestinais/patologia , DNA Tumoral Circulante/genética , DNA Tumoral Circulante/sangue , Biomarcadores Tumorais/genética , Intestino Delgado/patologia , Adulto , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteína Supressora de Tumor p53/genética , Proteína da Polipose Adenomatosa do Colo/genética , China , Prognóstico , População do Leste Asiático
2.
Eur Heart J ; 41(46): 4400-4411, 2020 12 07.
Artigo em Inglês | MEDLINE | ID: mdl-32818267

RESUMO

AIMS: Facial features were associated with increased risk of coronary artery disease (CAD). We developed and validated a deep learning algorithm for detecting CAD based on facial photos. METHODS AND RESULTS: We conducted a multicentre cross-sectional study of patients undergoing coronary angiography or computed tomography angiography at nine Chinese sites to train and validate a deep convolutional neural network for the detection of CAD (at least one ≥50% stenosis) from patient facial photos. Between July 2017 and March 2019, 5796 patients from eight sites were consecutively enrolled and randomly divided into training (90%, n = 5216) and validation (10%, n = 580) groups for algorithm development. Between April 2019 and July 2019, 1013 patients from nine sites were enrolled in test group for algorithm test. Sensitivity, specificity, and area under the receiver operating characteristic curve (AUC) were calculated using radiologist diagnosis as the reference standard. Using an operating cut point with high sensitivity, the CAD detection algorithm had sensitivity of 0.80 and specificity of 0.54 in the test group; the AUC was 0.730 (95% confidence interval, 0.699-0.761). The AUC for the algorithm was higher than that for the Diamond-Forrester model (0.730 vs. 0.623, P < 0.001) and the CAD consortium clinical score (0.730 vs. 0.652, P < 0.001). CONCLUSION: Our results suggested that a deep learning algorithm based on facial photos can assist in CAD detection in this Chinese cohort. This technique may hold promise for pre-test CAD probability assessment in outpatient clinics or CAD screening in community. Further studies to develop a clinical available tool are warranted.


Assuntos
Doença da Artéria Coronariana , Estenose Coronária , Aprendizado Profundo , Angiografia Coronária , Doença da Artéria Coronariana/diagnóstico por imagem , Estenose Coronária/diagnóstico por imagem , Estudos Transversais , Estudos de Viabilidade , Humanos , Valor Preditivo dos Testes
3.
Biosci. j. (Online) ; 34(2): 540-545, mar./apr. 2018. ilus
Artigo em Inglês | LILACS | ID: biblio-966766

RESUMO

The paper aims to explore clinical symptoms and complication characteristic of lung cancer complicated with pneumothorax, analyze clinical diagnostic value of VATS, and elaborate on specific clinical programs and significance. To investigate diagnosis and therapeutic value of VATS for lung cancer complicated with pneumothorax, 1900 cases of patients with lung cancer complicated with pneumothorax were randomly selected as research objects to be treated with VATS, and then analysis of their clinical data was done. The clinical data showed that many patients were not clearly diagnosed before operation. In VATS operation, lung tumor tissue was removed and then immediately frozen and sliced. Appropriate surgical approach was chosen based on specific circumstances of patients. As can be known from the results, 1000 cases were treated with wedge resection of lung tumor under thoracoscopy, 900 cases were treated with assisted small incision surgery under thoracoscopy. 1400 cases of lung metastasis were treated with pleural friction fixation. All the operations were successful, with pathology being clearly diagnosed. After surgery, 8 patients had mild air leakage, which could be heal without special treatment. There was no perioperative death. The above analysis shows that VATS can clearly diagnose peripheral lung tumor, and fundamentally cure pneumothorax and lung cancer, which is thus recommended in clinic.


o artigo pretende explorar sintomas clínicos e complicações características do câncer de pulmão complicado com pneumotórax, analisar o valor do diagnóstico clínico do VATS e elaborar programas e significados clínicos específicos. Para investigar o diagnóstico e valor terapêutico do VATS para câncer de pulmão complicado com pneumotórax, 1900 casos de pacientes com câncer de pulmão complicado com pneumotórax foram selecionados aleatoriamente como objetos de pesquisa para serem tratados com VATS e, em seguida, foi feita a análise de seus dados clínicos. Os dados clínicos mostraram que muitos pacientes não foram corretamente diagnosticados antes da operação. Na operação VATS, o tecido do tumor pulmonar foi removido e imediatamente congelado e cortado em fatias. A abordagem cirúrgica apropriada foi escolhida com base em circunstâncias específicas dos pacientes. Como pode ser conhecido a partir dos resultados, 1000 casos foram tratados com ressecção em cunha do tumor pulmonar sob toracoscopia, 900 casos foram tratados com cirurgia de incisão pequena assistida sob toracoscopia. 1400 casos de metástases pulmonares foram tratados com fixação de fricção pleural. Todas as operações foram bem-sucedidas, sendo a patologia claramente diagnosticada. Após a cirurgia, 8 pacientes apresentaram vazamento de ar leve, que pode ser curado sem tratamento especial. Não houve morte perioperatória. A análise acima mostra que a VATS pode diagnosticar claramente o tumor pulmonar periférico, e fundamentalmente curar pneumotórax e câncer de pulmão, o que é recomendado na clínica.


Assuntos
Pneumotórax , Cirurgia Torácica Vídeoassistida , Neoplasias Pulmonares , Diagnóstico Clínico , Tratamento Conservador
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