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1.
Sci Rep ; 13(1): 12604, 2023 08 03.
Article in English | MEDLINE | ID: mdl-37537230

ABSTRACT

The most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). The BRAFV600E gene encodes a protein-dependent kinase (PDK), which is a key component of the mitogen-activated protein kinase pathway and essential for controlling cell proliferation, differentiation, and death. The BRAFV600E mutation causes PDK to be activated improperly and continuously, resulting in abnormal proliferation and differentiation in PTC. Based on elastography ultrasound (US) radiomic features, this study seeks to create and validate six distinct machine learning algorithms to predict BRAFV6OOE mutation in PTC patients prior to surgery. This study employed routine US strain elastography image data from 138 PTC patients. The patients were separated into two groups: those who did not have the BRAFV600E mutation (n = 75) and those who did have the mutation (n = 63). The patients were randomly assigned to one of two data sets: training (70%), or validation (30%). From strain elastography US images, a total of 479 radiomic features were retrieved. Pearson's Correlation Coefficient (PCC) and Recursive Feature Elimination (RFE) with stratified tenfold cross-validation were used to decrease the features. Based on selected radiomic features, six machine learning algorithms including support vector machine with the linear kernel (SVM_L), support vector machine with radial basis function kernel (SVM_RBF), logistic regression (LR), Naïve Bayes (NB), K-nearest neighbors (KNN), and linear discriminant analysis (LDA) were compared to predict the possibility of BRAFV600E. The accuracy (ACC), the area under the curve (AUC), sensitivity (SEN), specificity (SPEC), positive predictive value (PPV), negative predictive value (NPV), decision curve analysis (DCA), and calibration curves of the machine learning algorithms were used to evaluate their performance. ① The machine learning algorithms' diagnostic performance depended on 27 radiomic features. ② AUCs for NB, KNN, LDA, LR, SVM_L, and SVM_RBF were 0.80 (95% confidence interval [CI]: 0.65-0.91), 0.87 (95% CI 0.73-0.95), 0.91(95% CI 0.79-0.98), 0.92 (95% CI 0.80-0.98), 0.93 (95% CI 0.80-0.98), and 0.98 (95% CI 0.88-1.00), respectively. ③ There was a significant difference in echogenicity,vertical and horizontal diameter ratios, and elasticity between PTC patients with BRAFV600E and PTC patients without BRAFV600E. Machine learning algorithms based on US elastography radiomic features are capable of predicting the likelihood of BRAFV600E in PTC patients, which can assist physicians in identifying the risk of BRAFV600E in PTC patients. Among the six machine learning algorithms, the support vector machine with radial basis function (SVM_RBF) achieved the best ACC (0.93), AUC (0.98), SEN (0.95), SPEC (0.90), PPV (0.91), and NPV (0.95).


Subject(s)
Carcinoma, Papillary , Elasticity Imaging Techniques , Thyroid Neoplasms , Humans , Thyroid Cancer, Papillary/diagnostic imaging , Thyroid Cancer, Papillary/genetics , Thyroid Cancer, Papillary/pathology , Thyroid Neoplasms/diagnostic imaging , Thyroid Neoplasms/genetics , Thyroid Neoplasms/pathology , Proto-Oncogene Proteins B-raf/genetics , Bayes Theorem , Carcinoma, Papillary/pathology , Mutation , Machine Learning
2.
J Int Med Res ; 51(7): 3000605231188287, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37523488

ABSTRACT

In this article, we present a rare case of breast metastasis of lung cancer. Chest computed tomography (CT) for a woman in her early 50s indicated right lung malignancy, multiple bone metastases, and an irregular mass in her right breast. Further inquiry into the case history revealed that the patient had been aware of the breast mass for 3 years, without respiratory symptoms. Biopsy of the breast mass suggested estrogen receptor (ER) (+), progesterone receptor (PR) (-), and human epidermal growth factor receptor 2 (HER2) (+ +) breast cancer. The patient was initially diagnosed with breast cancer with lung and bone metastasis. However, comprehensive breast cancer treatment was ineffective, and thyroid transcription factor-1 (TTF-1), napsin A, and cytokeratin 7 (CK7) were evaluated to better understand the origin of the cancer. To the best of our knowledge, this patient had the longest reported disease course from presentation with a breast lump as the first symptom to the final diagnosis of breast metastasis of lung cancer. To provide a better reference for differential diagnosis of ambiguous tumors, we also performed a systematic literature review.


Subject(s)
Bone Neoplasms , Breast Neoplasms , Lung Neoplasms , Neoplasms, Second Primary , Skin Neoplasms , Humans , Female , Breast Neoplasms/pathology , Lung Neoplasms/pathology , Breast , Bone Neoplasms/diagnostic imaging , Bone Neoplasms/secondary , Melanoma, Cutaneous Malignant
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