Sage open pathologyPub Date : 2025-05-15eCollection Date: 2025-01-01DOI: 10.1177/30502098251336541
Dan T Nguyen, Trent Davidson, Fiona Maclean, Pranav Dorwal, Yeh Chen Lee, Min Ru Qiu
{"title":"Oligometastatic Renal Ewing Sarcoma With <i>FUS::ERG</i> Fusion: A Case Report And Literature Review.","authors":"Dan T Nguyen, Trent Davidson, Fiona Maclean, Pranav Dorwal, Yeh Chen Lee, Min Ru Qiu","doi":"10.1177/30502098251336541","DOIUrl":"10.1177/30502098251336541","url":null,"abstract":"<p><p>Ewing sarcoma (ES) is an undifferentiated round cell sarcoma arising in skeletal and extraskeletal locations usually diagnosed in the second decade of life. It is typically characterized by a monomorphic round blue cell morphology, positive membranous CD99 immunohistochemical staining, and <i>EWSR1</i> gene fusion with a partner gene from the ETS family. Less frequently, other genes from the FET family of genes substitute for <i>EWSR1</i>. We report a case of oligometastatic Ewing sarcoma with <i>FUS::ERG</i> fusion with an unusual primary location in an older patient. This case highlights the application of ancillary tests, especially next generation sequencing, as an adjunct to the morphological assessment of undifferentiated round cell tumours. We also discuss potential diagnostic pitfalls and literature review of Ewing sarcomas with <i>FUS::ERG</i> fusion.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251336541"},"PeriodicalIF":0.0,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sage open pathologyPub Date : 2025-05-12eCollection Date: 2025-01-01DOI: 10.1177/30502098251336608
Yizhi Li, Jia Zhang, Xiaodan Lin
{"title":"Manual Delineation of the Region of Interest Combined With Clinical Image Analysis to Predict the Ki-67 Expression Level in Non-small Cell Lung Cancer.","authors":"Yizhi Li, Jia Zhang, Xiaodan Lin","doi":"10.1177/30502098251336608","DOIUrl":"10.1177/30502098251336608","url":null,"abstract":"<p><strong>Background: </strong>The Ki-67 antigen, a marker of cell proliferation, serves as a biomarker for assessing tumor malignancy. However, measuring Ki-67 levels through immunohistochemistry is often challenging due to difficulties in specimen collection and individual health issues. Radiological analysis has emerged as a potential alternative for predicting Ki-67 levels, although its accuracy has been limited. This study aims to enhance the prediction of Ki-67 levels using chest X-rays by employing a refined approach that combines detailed, manually delineated radiological features with conventional imaging characteristics.</p><p><strong>Methods: </strong>This study collected X-ray images and Ki-67 expression data from 109 patients diagnosed with Non-Small Cell Lung Cancer (NSCLC). Seven radiological features related to tumor progression were annotated on each image by clinical professionals. Tumor areas were delineated using Python, resulting in the generation of 5 types of data from these regions. Data integration facilitated the development of predictive models utilizing Logistic Regression (LR), Support Vector Machine (SVM), Random Forest (RF), and Deep Neural Networks (DNN), with feature selection processes applied.</p><p><strong>Results: </strong>Using the RF, 8 predictive features were selected from the datasets, of which 7 exhibited a linear correlation with Ki-67 levels (Mantel-Haenszel test, <i>P</i> < .05). The model demonstrated robust performance metrics: Accuracy: 0.818, Precision: 0.823, Recall: 0.849, and F1 Score: 0.783.</p><p><strong>Conclusions: </strong>This research underscores the effectiveness of integrating specific radiological features, manually delineated regions of interest (ROIs), with traditional imaging characteristics and machine learning techniques. This approach significantly enhances the predictive accuracy of chest X-rays for Ki-67 levels, offering a non-invasive method for Ki-67 estimation.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251336608"},"PeriodicalIF":0.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sage open pathologyPub Date : 2025-04-22eCollection Date: 2025-01-01DOI: 10.1177/30502098251331780
Andrew C Hu, Jesse E Passman, Zubair Baloch, Heather Wachtel
{"title":"Adrenalectomy Leading to Early Diagnosis of ALECT2 Amyloidosis.","authors":"Andrew C Hu, Jesse E Passman, Zubair Baloch, Heather Wachtel","doi":"10.1177/30502098251331780","DOIUrl":"10.1177/30502098251331780","url":null,"abstract":"<p><p>The diagnosis of amyloidosis requires high clinical suspicion and is often made only after significant clinical symptoms arise. Here, we present a case of amyloidosis diagnosed in a patient with an enlarging incidental adrenal cyst. Imaging and biochemical evaluation suggested that the cyst was benign and non-functional. Adrenalectomy was performed to treat symptoms of mass effect, and surgical pathology led to the diagnosis of leukocyte cell-derived chemotaxin 2 (ALECT2) associated adrenal amyloidosis. Patients with ALECT2 amyloidosis may have subclinical involvement of the adrenal glands, subcutaneous fat, and other tissues before developing the more common manifestation of renal amyloidosis. Early identification of patients with ALECT2 amyloidosis can assist in prevention of renal morbidity. Prevention of chronic kidney disease (CKD) should be among the main goals of managing patients with ALECT2 amyloidosis.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251331780"},"PeriodicalIF":0.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sage open pathologyPub Date : 2025-03-31eCollection Date: 2025-01-01DOI: 10.1177/30502098251327064
Nguyen Van Khanh, Tran Duc Thanh, Nguyen Tran Quang Sang, Dang Minh Quang, Fernandez Martinez Fernando Jose, Le The Hung, Tran Van Cong, Tran Tuyet Thanh Hai, Tran Duy Thanh, Vu Hai Son, Nguyen Xuan Hung, Tran Trung Dung
{"title":"Leiomyosarcoma of the Bone: A Case Report on the Critical Role of Biomarkers in Differential Diagnosis.","authors":"Nguyen Van Khanh, Tran Duc Thanh, Nguyen Tran Quang Sang, Dang Minh Quang, Fernandez Martinez Fernando Jose, Le The Hung, Tran Van Cong, Tran Tuyet Thanh Hai, Tran Duy Thanh, Vu Hai Son, Nguyen Xuan Hung, Tran Trung Dung","doi":"10.1177/30502098251327064","DOIUrl":"10.1177/30502098251327064","url":null,"abstract":"<p><p>Leiomyosarcoma of the bone (LMSB) is a rare type of sarcoma characterized by smooth muscle differentiation arising within the bone. We present the case of a 38-year-old female patient diagnosed with LMSB in the left distal femur. Histological examination revealed spindle-shaped and pleomorphic cells, with no evidence of cartilage or bone matrix formation. Immunohistochemical analysis demonstrated the tumor cell were positive for Smooth Muscle Actin, Desmin, and H-caldesmon. The integration of clinical presentation, imaging, morphological, and immunohistochemical findings confirmed the diagnosis of high-grade leiomyosarcoma of the bone. Postoperative pathological analysis further validated this diagnosis. One year after surgery, the patient remains stable, with no signs of recurrence or metastasis. Diagnosing leiomyosarcoma of the bone is particularly challenging due to the limitations of core needle biopsy samples. However, immunohistochemical evidence of smooth muscle differentiation plays a critical role in establishing the diagnosis.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251327064"},"PeriodicalIF":0.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Dermatofibrosarcoma Protuberans and <i>SMARCA4/BRG1</i> Loss: Novel Molecular Change or Coincidental Association?","authors":"Huiyan Deng, Mingyang Li, Ying Jia, Hanxu Jiang, Keqi Jia, Xiaojie Fan, Yueping Liu","doi":"10.1177/30502098251318875","DOIUrl":"10.1177/30502098251318875","url":null,"abstract":"<p><p>Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue sarcoma of the skin, representing less than 1% of all soft tissue sarcomas. Clinically, it is characterized by its indolent nature, localized growth, and low-grade malignant fibrosarcoma features. Here, we present a case of a 40-year-old woman diagnosed with DFSP carrying a deletion in the <i>SMARCA4</i> gene. Following complete tumour resection, no recurrence or new malignancies were observed during the 1-year follow-up period. To our knowledge, cases of DFSP with <i>SMARCA4</i> gene deletions have not been previously documented in the literature. This case contributes to our understanding of the molecular mechanisms underlying DFSP in soft tissue sarcomas, potentially enhancing clinicians' ability to accurately assess patient prognoses.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251318875"},"PeriodicalIF":0.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sage open pathologyPub Date : 2025-01-23eCollection Date: 2025-01-01DOI: 10.1177/30502098251314782
Lalani De Silva, Sunil Wijayasinghe, Chandu de Silva
{"title":"Chronic Recurrent Multifocal Osteomyelitis (CRMO): The Deceptive Disease That Mimics Sarcoma Radiologically but Promises a Complete Recovery.","authors":"Lalani De Silva, Sunil Wijayasinghe, Chandu de Silva","doi":"10.1177/30502098251314782","DOIUrl":"10.1177/30502098251314782","url":null,"abstract":"<p><p>Chronic recurrent multifocal osteomyelitis (CRMO) is a rare and distinct form of chronic non-bacterial osteomyelitis with an unknown etiology. This 11-year-old Asian girl presented with a painful swelling in her right arm, which was suspected to be a Ewing's sarcoma based on radiological findings. The lesion appeared as a unifocal destructive bone lesion in the proximal diaphyseal region of the right humerus, accompanied by periosteal reaction and soft tissue involvement. She was otherwise clinically well, except for the elevated C-reactive protein, erythrocyte sedimentation rate and alkaline phosphatase. Due to the clinical and radiological suspicion of sarcoma, repeated bone biopsies were performed. All the biopsies revealed mature lamellar bone, normocellular marrow with moderate mixed inflammation, and fibrosis, indicative of a chronic inflammatory process. Given the discordance between the clinical, radiological, and pathological findings, surgical management was withheld and the patient was closely monitored. Over the course of several months, her symptoms gradually improved without any medical or surgical interventions. A follow-up X-ray taken 3 years after the initial diagnosis showed that the lesion had significantly reduced in size, nearly returning to a normal bone contour.</p>","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098251314782"},"PeriodicalIF":0.0,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sage open pathologyPub Date : 2025-01-03eCollection Date: 2025-01-01DOI: 10.1177/30502098241310369
Rachele M Hendricks-Sturrup
{"title":"Editor-in-Chief's Commentary: <i>Clinical Pathology</i> Is Changing Its Title to <i>Sage Open Pathology</i> to Welcome a New Era of Pathology Professional Research, Engagement, Education, and Practice.","authors":"Rachele M Hendricks-Sturrup","doi":"10.1177/30502098241310369","DOIUrl":"10.1177/30502098241310369","url":null,"abstract":"","PeriodicalId":520893,"journal":{"name":"Sage open pathology","volume":"18 ","pages":"30502098241310369"},"PeriodicalIF":0.0,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12161882/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144304418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}