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52


Artificial intelligence in prostate cancer

Li, Wei; Hu, Ruoyu; Zhang, Quan; Yu, Zhangsheng; Deng, Longxin; Zhu, Xinhao; Xia, Yujia; Song, Zijian; Cimadamore, Alessia; Chen, Fei; Lopez-Beltran, Antonio; Montironi, Rodolfo; Cheng, Liang; Chen, Rui
Prostate cancer (PCa) ranks as the second most prevalent malignancy among men worldwide. Early diagnosis, personalized treatment, and prognosis prediction of PCa play a crucial role in improving patients' survival rates. The advancement of artificial intelligence (AI), particularly the utilization of deep learning (DL) algorithms, has brought about substantial progress in assisting the diagnosis, treatment, and prognosis prediction of PCa. The introduction of the foundation model has revolutionized the application of AI in medical treatment and facilitated its integration into clinical practice. This review emphasizes the clinical application of AI in PCa by discussing recent advancements from both pathological and imaging perspectives. Furthermore, it explores the current challenges faced by AI in clinical applications while also considering future developments, aiming to provide a valuable point of reference for the integration of AI and clinical applications.
PMID: 40629505
ISSN: 2542-5641
CID: 5890742

Clinical Application of Large Language Models in Generating Pathologic Images

Zhu, Lingxuan; Lai, Yancheng; Ta, Na; Mou, Weiming; Montironi, Rodolfo; Collins, Katrina; Iczkowski, Kenneth A; Chen, Fei; Lopez-Beltran, Antonio; Zhou, Rui; He, Huang; Pareek, Gyan; Hyams, Elias; Golijanin, Dragan; Khaleel, Sari; Golijanin, Borivoj; Malshy, Kamil; Cimadamore, Alessia; Ni, Xiang; Yang, Tao; Cheng, Liang; Chen, Rui
PURPOSE/OBJECTIVE:This study investigates the potential of DALL·E 3, an artificial intelligence (AI) model, to generate synthetic pathologic images of prostate cancer (PCa) at varying Gleason grades. The aim is to enhance medical education and research resources, particularly by providing diverse case studies and valuable teaching tools. METHODS:This study uses DALL·E 3 to generate 30 synthetic images of PCa across various Gleason grades, guided by standard Gleason pattern descriptions. Nine uropathologists evaluated these images for realism and accuracy compared with actual hematoxylin and eosin (H&E)-stained slides using a scoring system. RESULTS:< .05), with Gleason 5 images achieving the highest scores and accurately depicting critical pathologic characteristics. Limitations included a lack of fine nuclear detail, essential for identifying malignancy, which may affect the images' diagnostic utility. CONCLUSION/CONCLUSIONS:DALL·E 3 shows promise in generating customized pathologic images that can aid in education and resource expansion within pathology. However, ethical concerns, such as the potential misuse of AI-generated images for data falsification, highlight the need for responsible oversight. Collaboration between technology firms and pathologists is essential for the ethical integration of AI in pathology practices.
PMID: 40601882
ISSN: 2473-4276
CID: 5888042

The Somatic Mosaicism across Human Tissues Network

Coorens, Tim H H; Oh, Ji Won; Choi, Yujin Angelina; Lim, Nam Seop; Zhao, Boxun; Voshall, Adam; Abyzov, Alexej; Antonacci-Fulton, Lucinda; Aparicio, Samuel; Ardlie, Kristin G; Bell, Thomas J; Bennett, James T; Bernstein, Bradley E; Blanchard, Thomas G; Boyle, Alan P; Buenrostro, Jason D; Burns, Kathleen H; Chen, Fei; Chen, Rui; Choudhury, Sangita; Doddapaneni, Harsha V; Eichler, Evan E; Evrony, Gilad D; Faith, Melissa A; Fazzio, Thomas G; Fulton, Robert S; Garber, Manuel; Gehlenborg, Nils; Germer, Soren; Getz, Gad; Gibbs, Richard A; Hernandez, Raquel G; Jin, Fulai; Korbel, Jan O; Landau, Dan A; Lawson, Heather A; Lennon, Niall J; Li, Heng; Li, Yan; Loh, Po-Ru; Marth, Gabor; McConnell, Michael J; Mills, Ryan E; Montgomery, Stephen B; Natarajan, Pradeep; Park, Peter J; Satija, Rahul; Sedlazeck, Fritz J; Shao, Diane D; Shen, Hui; Stergachis, Andrew B; Underhill, Hunter R; Urban, Alexander E; VonDran, Melissa W; Walsh, Christopher A; Wang, Ting; Wu, Tao P; Zong, Chenghang; Lee, Eunjung Alice; Vaccarino, Flora M; ,
From fertilization onwards, the cells of the human body acquire variations in their DNA sequence, known as somatic mutations. These postzygotic mutations arise from intrinsic errors in DNA replication and repair, as well as from exposure to mutagens. Somatic mutations have been implicated in some diseases, but a fundamental understanding of the frequency, type and patterns of mutations across healthy human tissues has been limited. This is primarily due to the small proportion of cells harbouring specific somatic variants within an individual, making them more challenging to detect than inherited variants. Here we describe the Somatic Mosaicism across Human Tissues Network, which aims to create a reference catalogue of somatic mutations and their clonal patterns across 19 different tissue sites from 150 non-diseased donors and develop new technologies and computational tools to detect somatic mutations and assess their phenotypic consequences, including clonal expansions. This strategy enables a comprehensive examination of the mutational landscape across the human body, and provides a comparison baseline for somatic mutation in diseases. This will lead to a deep understanding of somatic mutations and clonal expansions across the lifespan, as well as their roles in health, in ageing and, by comparison, in diseases.
PMID: 40604182
ISSN: 1476-4687
CID: 5888132

Program Evaluation for Graduate Medical Education: Practical Approaches From the Reimagining Residency Evaluation Community of Practice

Richardson, Judee; Yarris, Lalena M; Carney, Patricia A; Goss, Erin; Zelaya, Melissa I; Morgan, Helen K; Chen, Fei; Schumacher, Julie A; O'Rourke, Paul; Gillespie, Colleen; Thompson, Britta M; Goldhamer, Mary Ellen J
PMCID:12080493
PMID: 40386482
ISSN: 1949-8357
CID: 5852762

Molecular testing in urinary cytology specimens: Current status and future directions

Chen, Fei; Simsir, Aylin; Cheng, Liang
Bladder cancer is a common type of urological cancer with high recurrence and mortality rates. Currently, it is diagnosed and monitored using minimal invasive cystoscopies and biopsies. Urinary cytology, the most widely accepted noninvasive and more economic urinary diagnosis method, aims to detect high grade urothelial carcinoma with a high specificity but low sensitivity, especially for detecting low-grade tumors. With advancements in molecular techniques, urine based liquid biopsy, artificial intelligence, and the growing interest in precision cytopathology, identification of urinary biomarkers for effective cancer screening, diagnosis, risk stratification, and therapeutic response monitoring has been a key focus of bladder cancer research and clinical practice guideline development. Urine allows noninvasive access to morphological, transcriptomic, epigenetic, and genomic materials from exfoliated cells in contact with tumor tissue. This review offers a comprehensive evaluation of the current utility of urinary biomarkers and technological innovations in cancer diagnosis and minimal residual disease detection. We also discuss the challenges and prospects for integrating molecular cytopathology into daily clinical practice.
PMID: 40055071
ISSN: 1873-2496
CID: 5807962

TERT promoter mutations and additional molecular alterations in thyroid fine-needle aspiration specimens: A multi-institutional study with histopathologic follow-up

Abi-Raad, Rita; Shi, Qiuying; Chen, Fei; Antony, Vijay; Hsiao, Wen-Yu; Simsir, Aylin; Liu, Xiaoying; Brandler, Tamar C; Cai, Guoping
OBJECTIVES/OBJECTIVE:TERT promoter mutations are not infrequently encountered in thyroid carcinomas; however, it is unclear if additional molecular alterations may play a role in determining tumor behavior. METHODS:Fine-needle aspiration (FNA) specimens from 32 patients with TERT promoter mutations detected by ThyroSeq v3 from 4 institutions were included in the study. FNA diagnoses, molecular results, and surgical follow-up were retrospectively reviewed and analyzed. RESULTS:There were 5 benign and 27 malignant neoplasms, including 7 high-grade thyroid carcinomas (HGCs) on histopathologic follow-up. Of 4 cases with an isolated TERT mutation, 3 (75%) cases were malignant. Of 17 cases harboring a co-occurring TERT mutation with 1 additional molecular alteration, 13 (76%) displayed malignancy on histopathologic follow-up. All 11 cases with TERT mutations plus 2 or more additional molecular alterations were malignant on follow-up. Furthermore, HGC was not seen in cases with an isolated TERT mutation, while 80% of cases harboring TERT mutations plus 3 additional molecular alterations showed HGC. CONCLUSIONS:TERT promoter mutations are commonly associated with malignancy, particularly HGCs, when multiple co-occurring molecular alterations are present. However, TERT promoter mutations may occasionally be detected in benign thyroid neoplasms when encountered in isolation or with fewer than 2 additional molecular alterations.
PMID: 39250709
ISSN: 1943-7722
CID: 5690042

Cytomorphologic and Molecular Features of Hyalinizing Trabecular Tumor of Thyroid: Smears and ThinPrep [Meeting Abstract]

Xia, Rong; Sun, Wei; Gupta, Mala; Hernandez, Osvaldo; Chen, Fei; Liu, Cheng; Simsir, Aylin; Shi, Yan
ORIGINAL:0017411
ISSN: 2213-2945
CID: 5743672

Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses [Case Report]

Guirguis, Justina; Iosim, Sonia; Jones, Derek; Likhite, Maryel; Chen, Fei; Kesserwan, Chimene; Gindin, Tatyana; Kahn, Philip J; Beck, David; Oza, Vikash S; Hillier, Kirsty
Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long-term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants.
PMID: 38413050
ISSN: 1525-1470
CID: 5634772

Copy Number Alterations in Thyroid FNA Specimens: An Association with Oncocytic Features? [Meeting Abstract]

Xia, Rong; Sun, Wei; NIkiforov, Yuri; Shafizadeh, Negin; Belovarac, Brendan; Liu, Cheng; Shi, Yan; Hodak, Steven; Chen, Fei; Simsir, Aylin; Brandler, Tamar
ORIGINAL:0017413
ISSN: 2213-2945
CID: 5743692

Gene Expression Alterations, Assist Players of Driver Mutations Toward Malignancy in Thyroid Nodules? [Meeting Abstract]

Belovarac, Brendan; Chablani, Sumedha; Brandler, Tamar; Sun, Wei; Shafizadeh, Negin; Shi, Yan; Hodak, Steven; Chen, Fei; Simsir, Aylin; Xia, Rong
ORIGINAL:0017412
ISSN: 2213-2945
CID: 5743682