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Medicine May 2024Leiomyoma is a benign smooth muscle tumor which is rarely found in urethra. We hereby report a case of a 44-year-old female who presented with complaints of dysuria.
RATIONALE
Leiomyoma is a benign smooth muscle tumor which is rarely found in urethra. We hereby report a case of a 44-year-old female who presented with complaints of dysuria.
PATIENT CONCERNS
A 44-year-old female patient presented to the urology outpatient clinic with symptoms of dysuria. The patient described the presence of a protrusion from the urethra during urination.
DIAGNOSIS
Urethral leiomyoma.
INTERVENTIONS
Physical examination confirmed a solid urethral mass. CT scan and USG reports indicated that the mass originated from the mid-urethra with vascularity at the base. We performed a complete resection of the urethral mass. The patient was discharged after 3 days of observation.
OUTCOME
During a follow-up after 1 month, the patient reported improved urinary flow and no occurrence of hematuria. The patient recovered well after discharge.
LESSON
Urethral leiomyoma is a rare benign tumor that is often misdiagnosed in clinical practice. Diagnosis requires careful clinical examination. Surgical removal usually works well. It is important to remember that in some cases of acute urinary retention, it can be caused by a complete obstruction of a mass in the urethra. Urologists should be more cautious and experienced in handling such cases.
Topics: Humans; Female; Leiomyoma; Adult; Dysuria; Urethral Neoplasms; Tomography, X-Ray Computed
PubMed: 38758882
DOI: 10.1097/MD.0000000000037893 -
PloS One 2024The workload of breast cancer pathological diagnosis is very heavy. The purpose of this study is to establish a nomogram model based on pathological images to predict...
BACKGROUND
The workload of breast cancer pathological diagnosis is very heavy. The purpose of this study is to establish a nomogram model based on pathological images to predict the benign and malignant nature of breast diseases and to validate its predictive performance.
METHODS
In retrospect, a total of 2,723 H&E-stained pathological images were collected from 1,474 patients at Qingdao Central Hospital between 2019 and 2022. The dataset consisted of 509 benign tumor images (adenosis and fibroadenoma) and 2,214 malignant tumor images (infiltrating ductal carcinoma). The images were divided into a training set (1,907) and a validation set (816). Python3.7 was used to extract the values of the R channel, G channel, B channel, and one-dimensional information entropy from all images. Multivariable logistic regression was used to select variables and establish the breast tissue pathological image prediction model.
RESULTS
The R channel value, B channel value, and one-dimensional information entropy of the images were identified as independent predictive factors for the classification of benign and malignant pathological images (P < 0.05). The area under the curve (AUC) of the nomogram model in the training set was 0.889 (95% CI: 0.869, 0.909), and the AUC in the validation set was 0.838 (95% CI: 0.7980.877). The calibration curve results showed that the calibration curve of this nomogram model was close to the ideal curve. The decision curve results indicated that the predictive model curve had a high value for auxiliary diagnosis.
CONCLUSION
The nomogram model for the prediction of benign and malignant breast diseases based on pathological images demonstrates good predictive performance. This model can assist in the diagnosis of breast tissue pathological images.
Topics: Humans; Female; Breast Neoplasms; Middle Aged; Adult; Nomograms; Fibroadenoma; Retrospective Studies; Breast; Aged
PubMed: 38758814
DOI: 10.1371/journal.pone.0294923 -
PloS One 2024The diagnosis of breast cancer through MicroWave Imaging (MWI) technology has been extensively researched over the past few decades. However, continuous improvements to...
The diagnosis of breast cancer through MicroWave Imaging (MWI) technology has been extensively researched over the past few decades. However, continuous improvements to systems are needed to achieve clinical viability. To this end, the numerical models employed in simulation studies need to be diversified, anatomically accurate, and also representative of the cases in clinical settings. Hence, we have created the first open-access repository of 3D anatomically accurate numerical models of the breast, derived from 3.0T Magnetic Resonance Images (MRI) of benign breast disease and breast cancer patients. The models include normal breast tissues (fat, fibroglandular, skin, and muscle tissues), and benign and cancerous breast tumors. The repository contains easily reconfigurable models which can be tumor-free or contain single or multiple tumors, allowing complex and realistic test scenarios needed for feasibility and performance assessment of MWI devices prior to experimental and clinical testing. It also includes an executable file which enables researchers to generate models incorporating the dielectric properties of breast tissues at a chosen frequency ranging from 3 to 10 GHz, thereby ensuring compatibility with a wide spectrum of research requirements and stages of development for any breast MWI prototype system. Currently, our dataset comprises MRI scans of 55 patients, but new exams will be continuously added.
Topics: Humans; Magnetic Resonance Imaging; Breast Neoplasms; Female; Breast; Microwave Imaging; Microwaves
PubMed: 38758760
DOI: 10.1371/journal.pone.0302974 -
PloS One 2024Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these...
BACKGROUND
Advances in Next Generation Sequencing have made rapid variant discovery and detection widely accessible. To facilitate a better understanding of the nature of these variants, American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG-AMP) have issued a set of guidelines for variant classification. However, given the vast number of variants associated with any disorder, it is impossible to manually apply these guidelines to all known variants. Machine learning methodologies offer a rapid way to classify large numbers of variants, as well as variants of uncertain significance as either pathogenic or benign. Here we classify ATP7B genetic variants by employing ML and AI algorithms trained on our well-annotated WilsonGen dataset.
METHODS
We have trained and validated two algorithms: TabNet and XGBoost on a high-confidence dataset of manually annotated, ACMG & AMP classified variants of the ATP7B gene associated with Wilson's Disease.
RESULTS
Using an independent validation dataset of ACMG & AMP classified variants, as well as a patient set of functionally validated variants, we showed how both algorithms perform and can be used to classify large numbers of variants in clinical as well as research settings.
CONCLUSION
We have created a ready to deploy tool, that can classify variants linked with Wilson's disease as pathogenic or benign, which can be utilized by both clinicians and researchers to better understand the disease through the nature of genetic variants associated with it.
Topics: Hepatolenticular Degeneration; Humans; Deep Learning; Copper-Transporting ATPases; Genetic Variation; Algorithms; High-Throughput Nucleotide Sequencing
PubMed: 38758754
DOI: 10.1371/journal.pone.0303787 -
JAMA Network Open May 2024Interpatient variabilities in genomic variants may reflect differences in tumor statuses among individuals.
IMPORTANCE
Interpatient variabilities in genomic variants may reflect differences in tumor statuses among individuals.
OBJECTIVES
To delineate interpatient variabilities in RAS variants in thyroid tumors based on the fifth World Health Organization classification of thyroid neoplasms and assess their diagnostic significance in cancer detection among patients with thyroid nodules.
DESIGN, SETTING, AND PARTICIPANTS
This prospective diagnostic study analyzed surgically resected thyroid tumors obtained from February 2016 to April 2022 and residual thyroid fine-needle aspiration (FNA) biopsies obtained from January 2020 to March 2021, at Mount Sinai Hospital, Toronto, Ontario, Canada. Data were analyzed from June 20, 2022, to October 15, 2023.
EXPOSURES
Quantitative detection of interpatient disparities of RAS variants (ie, NRAS, HRAS, and KRAS) was performed along with assessment of BRAF V600E and TERT promoter variants (C228T and C250T) by detecting their variant allele fractions (VAFs) using digital polymerase chain reaction assays.
MAIN OUTCOMES AND MEASURES
Interpatient differences in RAS, BRAF V600E, and TERT promoter variants were analyzed and compared with surgical histopathologic diagnoses. Malignancy rates, sensitivity, specificity, positive predictive values, and negative predictive values were calculated.
RESULTS
A total of 438 surgically resected thyroid tumor tissues and 249 thyroid nodule FNA biopsies were obtained from 620 patients (470 [75.8%] female; mean [SD] age, 50.7 [15.9] years). Median (IQR) follow-up for patients who underwent FNA biopsy analysis and subsequent resection was 88 (50-156) days. Of 438 tumors, 89 (20.3%) were identified with the presence of RAS variants, including 51 (11.6%) with NRAS, 29 (6.6%) with HRAS, and 9 (2.1%) with KRAS. The interpatient differences in these variants were discriminated at VAF levels ranging from 0.15% to 51.53%. The mean (SD) VAF of RAS variants exhibited no significant differences among benign nodules (39.2% [11.2%]), noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTPs) (25.4% [14.3%]), and malignant neoplasms (33.4% [13.8%]) (P = .28), although their distribution was found in 41.7% of NIFTPs and 50.7% of invasive encapsulated follicular variant papillary thyroid carcinomas (P < .001). RAS variants alone, regardless of a low or high VAF, were significantly associated with neoplasms at low risk of tumor recurrence (60.7% of RAS variants vs 26.9% of samples negative for RAS variants; P < .001). Compared with the sensitivity of 54.2% (95% CI, 48.8%-59.4%) and specificity of 100% (95% CI, 94.8%-100%) for BRAF V600E and TERT promoter variant assays, the inclusion of RAS variants into BRAF and TERT promoter variant assays improved sensitivity to 70.5% (95% CI, 65.4%-75.2%), albeit with a reduction in specificity to 88.8% (95% CI, 79.8%-94.1%) in distinguishing malignant neoplasms from benign and NIFTP tumors. Furthermore, interpatient differences in 5 gene variants (NRAS, HRAS, KRAS, BRAF, and TERT) were discriminated in 54 of 126 indeterminate FNAs (42.9%) and 18 of 76 nondiagnostic FNAs (23.7%), and all tumors with follow-up surgical pathology confirmed malignancy.
CONCLUSIONS AND RELEVANCE
This diagnostic study delineated interpatient differences in RAS variants present in thyroid tumors with a variety of histopathological diagnoses. Discrimination of interpatient variabilities in RAS in combination with BRAF V600E and TERT promoter variants could facilitate cytology examinations in preoperative precision malignancy diagnosis among patients with thyroid nodules.
Topics: Humans; Thyroid Neoplasms; Female; Male; Middle Aged; Prospective Studies; Proto-Oncogene Proteins B-raf; Adult; Telomerase; Aged; Biopsy, Fine-Needle; Genes, ras; Proto-Oncogene Proteins p21(ras); GTP Phosphohydrolases; Thyroid Nodule; Ontario; Membrane Proteins
PubMed: 38758552
DOI: 10.1001/jamanetworkopen.2024.11919 -
Ear, Nose, & Throat Journal May 2024The parapharyngeal space has been described as an inverted pyramid shape with the base of the skull and the great cornu of the hyoid bone at the top. Tumors of the...
The parapharyngeal space has been described as an inverted pyramid shape with the base of the skull and the great cornu of the hyoid bone at the top. Tumors of the parapharyngeal space account for 0.5% of head and neck tumors and a wide range of tumor types can occur in this area, 80% of which are benign, the most common being pleomorphic adenomas of the salivary glands and neurogenic tumors. We present a 39-year-old woman who was hospitalized due to left-sided neck pain with a feeling of blockage in the left ear and hearing loss for 10 months. Imaging showed that the mass was not connected to the cranium and the patient underwent surgical resection via a transoral approach, where the contents of the mass were found to be cerebrospinal fluid, and meningocele in the parapharyngeal space is a rare occurrence. The patient presented mainly with painful symptoms, which were eventually relieved by nerve block therapy.
PubMed: 38757650
DOI: 10.1177/01455613241249094 -
Therapeutic Advances in Respiratory... 2024Although electromagnetic navigation bronchoscopy (ENB) is highly sensitive in the diagnosis of peripheral pulmonary nodules (PPNs), its diagnostic yield for subgroups of...
BACKGROUND
Although electromagnetic navigation bronchoscopy (ENB) is highly sensitive in the diagnosis of peripheral pulmonary nodules (PPNs), its diagnostic yield for subgroups of smaller PPNs is under evaluation.
OBJECTIVES
Diagnostic yield evaluation of biopsy using ENB for PPNs <2 cm.
DESIGN
The diagnostic yield, sensitivity, specificity, positive predictive value, and negative predictive value of the ENB-mediated biopsy for PPNs were evaluated.
METHODS
Patients who had PPNs with diameters <2 cm and underwent ENB-mediated biopsy between May 2015 and February 2020 were consecutively enrolled. The final diagnosis was made pathological examination after surgery.
RESULTS
A total of 82 lesions from 65 patients were analyzed. The median tumor size was 11 mm. All lesions were subjected to ENB-mediated biopsy, of which 29 and 53 were classified as malignant and benign, respectively. Subsequent segmentectomy, lobectomy, or wedge resection, following pathological examinations were performed on 64 nodules from 57 patients. The overall sensitivity, specificity, positive predictive value, and negative predictive value for nodules <2 cm were 53.3%, 91.7%, 92.3%, and 51.2%, respectively. The receiver operating curve showed an area under the curve of 0.721 ( < 0.001). Additionally, the sensitivity, specificity, positive predictive value, and negative predictive value were 62.5%, 100%, 100%, and 42.9%, respectively, for nodules with diameters equal to or larger than 1 cm; and 30.8%, 86.7%, 66.7%, and 59.1%, respectively, for nodules less than 1 cm. In the subgroup analysis, neither the lobar location nor the distance of the PPNs to the pleura affected the accuracy of the ENB diagnosis. However, the spiculated sign had a negative impact on the accuracy of the ENB biopsy ( = 0.010).
CONCLUSION
ENB has good specificity and positive predictive value for diagnosing PPNs <2 cm; however, the spiculated sign may negatively affect ENB diagnostic accuracy. In addition, the diagnostic reliability may only be limited to PPNs equal to or larger than 1 cm.
Topics: Humans; Bronchoscopy; Male; Female; Middle Aged; Aged; Predictive Value of Tests; Lung Neoplasms; Electromagnetic Phenomena; Multiple Pulmonary Nodules; Retrospective Studies; Tumor Burden; Adult; Solitary Pulmonary Nodule; Reproducibility of Results; Aged, 80 and over; Image-Guided Biopsy
PubMed: 38757612
DOI: 10.1177/17534666241249150 -
Molecular Oncology May 2024Benign breast tumors are a nonthreatening condition defined as abnormal cell growth within the breast without the ability to invade nearby tissue. However, benign...
Benign breast tumors are a nonthreatening condition defined as abnormal cell growth within the breast without the ability to invade nearby tissue. However, benign lesions hold valuable biological information that can lead us toward better understanding of tumor biology. In this study, we have used two pathway analysis algorithms, Pathifier and gene set variation analysis (GSVA), to identify biological differences between normal breast tissue, benign tumors and malignant tumors in our clinical dataset. Our results revealed that one-third of all pathways that were significantly different between benign and malignant tumors were immune-related pathways, and 227 of them were validated by both methods and in the METABRIC dataset. Furthermore, five of these pathways (all including genes involved in cytokine and interferon signaling) were related to overall survival in cancer patients in both datasets. The cellular moieties that contribute to immune differences in malignant and benign tumors were analyzed using the deconvolution tool, CIBERSORT. The results showed that levels of some immune cells were specifically higher in benign than in malignant tumors, and this was especially the case for resting dendritic cells and follicular T-helper cells. Understanding the distinct immune profiles of benign and malignant breast tumors may aid in developing noninvasive diagnostic methods to differentiate between them in the future.
PubMed: 38757377
DOI: 10.1002/1878-0261.13655 -
Frontiers in Endocrinology 2024At the beginning of the eighteenth century, most physicians recognized cancer as an aggressive process that gradually spreads, leading to cachexia and death. Thyroid... (Review)
Review
At the beginning of the eighteenth century, most physicians recognized cancer as an aggressive process that gradually spreads, leading to cachexia and death. Thyroid malignancies had long been underestimated because the majority of the population of West Europe suffered from diffuse goiters that masked malignant processes in the neck. Moreover, the life expectancy at that time was very low (about 37-40 years), so the majority of people died of other causes before metastatic thyroid cancer could develop and manifest. Nevertheless, in 1817, French dermatologist Jean Louis Alibert described the first case of a malignant tumor involving the thyroid gland. From the 1820s the number of case reports describing thyroid cancer increased. Even though Jean Claude Recamier described in 1829, secondary lesions on various organs in patients with thyroid malignancies were not themselves considered malignant until 1876.
Topics: Thyroid Neoplasms; Humans; History, 19th Century; History, 18th Century; Goiter; Neoplasm Metastasis; History, 20th Century
PubMed: 38756996
DOI: 10.3389/fendo.2024.1354750 -
Radiology Case Reports Aug 2024Schwannoma, typically a non-cancerous tumor originating from Schwann cells, seldom occurs in the retroperitoneal area. Its clinical manifestation varies, often remaining...
Schwannoma, typically a non-cancerous tumor originating from Schwann cells, seldom occurs in the retroperitoneal area. Its clinical manifestation varies, often remaining asymptomatic for an extended period until it enlarges, exerting pressure on neighboring organs. This article presents a unique instance of retroperitoneal pelvic schwannoma in a 75-year-old woman, initially presenting with unusual lower back discomfort. Imaging was used to characterize the tumor, and anatomopathological examination established the preoperative diagnosis of pelvic schwannoma and its benign nature. The clinical, imaging, and anatomopathological aspects of this pelvic schwannoma case are elucidated herein.
PubMed: 38756950
DOI: 10.1016/j.radcr.2024.03.075