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Gastric Carcinoma in Autoimmune Gastritis: A Histopathologic and Molecular Study Modern Pathol. (IF 7.5) Pub Date : 2024-04-06 Valentina Angerilli, Alessandro Vanoli, Giulia Celin, Carlotta Ceccon, Jessica Gasparello, Marianna Sabbadin, Giuseppe De Lisi, Michele Paudice, Marco Vincenzo Lenti, Laura Rovedatti, Antonio Di Sabatino, Francesca Bazzocchi, Sara Lonardi, Edoardo Savarino, Claudio Luchini, Paola Parente, Federica Grillo, Luca Mastracci, Matteo Fassan
Patients with autoimmune gastritis (AIG) have a 13-fold risk of developing type-1 neuroendocrine tumors, whereas the risk for gastric adenocarcinoma is still uncertain. Here we describe the clinicopathologic and molecular features of a series of gastric carcinomas (GC) arising in the context of AIG. A total of 26 AIG-associated GC specimens were collected from 4 Italian Institutions. Immunohistochemistry
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Clinicopathologic and Molecular Characteristics of HER2 (ERBB2)-Altered Non–Small Cell Lung Cancer: Implications for Precision Medicine Modern Pathol. (IF 7.5) Pub Date : 2024-04-06 Yurimi Lee, Boram Lee, Yoon-La Choi, Dong-Wook Kang, Joungho Han
The heterogeneous relationship between protein expression, amplification, and mutations in in non–small cell lung cancer (NSCLC) and the optimal methods for detecting these alterations remain unclear. We aimed to elucidate the clinicopathological and molecular characteristics of -altered NSCLC and investigate practical approaches for identifying patients who might benefit from -targeted therapies.
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Somatic Tumor Testing in Prostate Cancer: Experience of a Tertiary Care Center Including Pathologist-Driven Reflex Testing of Localized Tumors at Diagnosis Modern Pathol. (IF 7.5) Pub Date : 2024-04-06 Susan Prendeville, Harpreet Kaur, Shervin Ansari, Shifaa Alqaqa, Tracy L. Stockley, Katherine Lajkosz, Theodorus van der Kwast, Carol C. Cheung, Shamini Selvarajah
Somatic tumor testing in prostate cancer (PCa) can guide treatment options by identifying clinically actionable variants in DNA damage repair genes, including acquired variants not detected using germline testing alone. Guidelines currently recommend performing somatic tumor testing in metastatic PCa, whereas there is no consensus on the role of testing in regional disease, and the optimal testing
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Quantitative Assessment of Preanalytic Variables on Clinical Evaluation of PI3/AKT/mTOR Signaling Activity in Diffuse Glioma Modern Pathol. (IF 7.5) Pub Date : 2024-04-06 Sol Beccari, Esraa Mohamed, Viva Voong, Stephanie Hilz, Marisa Lafontaine, Anny Shai, Yunita Lim, Jerry Martinez, Benjamin Switzman, Ryon L. Yu, Janine M. Lupo, Eddie F. Chang, Shawn L. Hervey-Jumper, Mitchel S. Berger, Joseph F. Costello, Joanna J. Phillips
Biomarker-driven therapeutic clinical trials require the implementation of standardized, evidence-based practices for sample collection. In diffuse glioma, phosphatidylinositol 3 (PI3)-kinase/AKT/mTOR (PI3/AKT/mTOR) signaling is an attractive therapeutic target for which window-of-opportunity clinical trials could facilitate the identification of promising new agents. Yet, the relevant preanalytic
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Assessment of Efficacy and Accuracy of Cervical Cytology Screening With Artificial Intelligence Assistive System Modern Pathol. (IF 7.5) Pub Date : 2024-04-06 Xinru Bai, Jingjing Wei, David Starr, Xin Zhang, Xiangchen Wu, Yongzhen Guo, Yixuan Liu, Xiaotian Ma, Yuan Wei, Changzhong Li, Megan L. Zilla, Wei Zhang, Xianxu Zeng, Chengquan Zhao
The role of artificial intelligence (AI) in pathology offers many exciting new possibilities for improving patient care. This study contributes to this development by identifying the viability of the AICyte assistive system for cervical screening, and investigating the utility of the system in assisting with workflow and diagnostic capability. In this study, a novel scanner was developed using a Ruiqian
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A Deep Learning–Based Assay for Programmed Death Ligand 1 Immunohistochemistry Scoring in Non–Small Cell Lung Carcinoma: Does it Help Pathologists Score? Modern Pathol. (IF 7.5) Pub Date : 2024-04-06 Hiroaki Ito, Akihiko Yoshizawa, Kazuhiro Terada, Akiyoshi Nakakura, Mariyo Rokutan-Kurata, Tatsuhiko Sugimoto, Kazuya Nishimura, Naoki Nakajima, Shinji Sumiyoshi, Masatsugu Hamaji, Toshi Menju, Hiroshi Date, Satoshi Morita, Ryoma Bise, Hironori Haga
Several studies have developed various artificial intelligence (AI) models for immunohistochemical analysis of programmed death ligand 1 (PD-L1) in patients with non–small cell lung carcinoma; however, none have focused on specific ways by which AI-assisted systems could help pathologists determine the tumor proportion score (TPS). In this study, we developed an AI model to calculate the TPS of the
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Calcifying Odontogenic Cyst Demonstrates Recurrent WNT Pathway Mutations and So-Called Adenoid Ameloblastoma-Like Histology: Evidence Supporting Its Classification as a Neoplasm Modern Pathol. (IF 7.5) Pub Date : 2024-04-02 Kyu-Young Oh, Ji-Hoon Kim, Hye-Jung Yoon
Calcifying odontogenic cyst (COC), once called calcifying cystic odontogenic tumor, is classified under the category of odontogenic cysts. However, the proliferative capacity of the lesional epithelium and consistent nuclear β-catenin expression raise questions about its current classification. This study aimed to determine whether COC would be better classified as a neoplasm in the histologic and
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Primary Cilia as a Tumor Marker in Pituitary Neuroendocrine Tumors Modern Pathol. (IF 7.5) Pub Date : 2024-03-19 Rebeca Martínez-Hernández, Ana Serrano-Somavilla, Raul Fernández-Contreras, Cristina Sanchez-Guerrero, Nuria Sánchez de la Blanca, Pablo Sacristán-Gómez, Fernando Sebastian-Valles, Miguel Sampedro-Núñez, Javier Fraga, María Calatayud, Almudena Vicente, Gonzalo García-de-Casasola, Ancor Sanz-García, Marta Araujo-Castro, Ignacio Ruz-Caracuel, Manel Puig-Domingo, Mónica Marazuela
Pituitary neuroendocrine tumors (PitNETs) account for approximately 15% of all intracranial neoplasms. Although they usually appear to be benign, some tumors display worse behavior, displaying rapid growth, invasion, refractoriness to treatment, and recurrence. Increasing evidence supports the role of primary cilia (PC) in regulating cancer development. Here, we showed that PC are significantly increased
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Expanding the Spectrum of NR4A3 Fusion–Positive Gynecologic Leiomyosarcomas Modern Pathol. (IF 7.5) Pub Date : 2024-03-18 Amir Momeni-Boroujeni, Kerry Mullaney, Sara E. DiNapoli, Mario M. Leitao Jr, Martee L. Hensley, Nora Katabi, Douglas H.R. Allison, Kay J. Park, Cristina R. Antonescu, Sarah Chiang
Recurrent gene fusions have been observed in epithelioid and myxoid variants of uterine leiomyosarcoma. fusions were recently described in a subset of epithelioid leiomyosarcomas exhibiting rhabdoid morphology. In this study, we sought to expand the clinical, morphologic, immunohistochemical, and genetic features of gynecologic leiomyosarcomas harboring rearrangements with and novel fusion partners
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High-Grade, Nonsarcomatoid Chromophobe Renal Cell Carcinoma: A Series of 22 Cases With Novel Molecular Features on a Subset Modern Pathol. (IF 7.5) Pub Date : 2024-03-14 Ezra G. Baraban, Roy Elias, Ming-Tseh Lin, Yasser Ged, Jing Zhu, Aparna Pallavajjala, Nirmish Singla, Tamara L. Lotan, Pedram Argani, James R. Eshleman, Jonathan I. Epstein
Chromophobe renal cell carcinoma (ChRCC) is the third most common subtype of renal cell carcinoma and typically exhibits indolent behavior, though a rare subset can exhibit high-grade morphologic features and is associated with a poor prognosis. Although there are limited data on the molecular characteristics of metastatic and sarcomatoid ChRCC, the molecular features of high-grade, nonsarcomatoid
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Amplification of Mutant NRAS in Melanocytic Tumors With Features of Spitz Tumors Modern Pathol. (IF 7.5) Pub Date : 2024-03-10 Jeffrey M. Cloutier, Meng Wang, Swapna S. Vemula, Sonia Mirza, Jingly Weier, Jamie D. Aquino, Timothy H. McCalmont, Philip E. LeBoit, Boris C. Bastian, Iwei Yeh
activating mutations are prevalent in melanocytic neoplasia, occurring in a subset of common acquired melanocytic nevi and ∼30% of cutaneous melanomas. In this study, we described a cohort of 7 distinctive melanocytic tumors characterized by activating point mutations in codon 61 of with amplification of the mutant allele and shared clinicopathologic features. These tumors occurred predominantly in
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Intra-Abdominal Epithelioid Neoplasm With EWSR1::CREB Fusions Involving the Kidney: A Clinicopathologic and Molecular Characterization With an Emphasis on Differential Diagnosis Modern Pathol. (IF 7.5) Pub Date : 2024-03-07 Ming Zhao, Hualei Gan, Shan Zhong, Qiuyan Xia, Yanfeng Bai, Jiayun Xu, Xiaodong Teng, Jian Wang
Soft tissue neoplasms, harboring fusions between and with genes encoding CREB transcription factors family (ATF1, CREB1, and CREM), are an emerging heterogeneous group of mesenchymal tumors that differ significantly in morphology, immunophenotypes, and behavior. Recently, :: fusions have been recognized to define a group of aggressive neoplasms of epithelioid morphology with multiple growth patterns
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L1 Cell Adhesion Molecule (L1CAM) Expression and Molecular Alterations Distinguish Low-Grade Oncocytic Tumor From Eosinophilic Chromophobe Renal Cell Carcinoma Modern Pathol. (IF 7.5) Pub Date : 2024-03-07 Mohammed Alghamdi, Jie-Fu Chen, Achim Jungbluth, Sirma Koutzaki, Matthew B. Palmer, Hikmat A. Al-Ahmadie, Samson W. Fine, Anuradha Gopalan, Judy Sarungbam, S. Joseph Sirintrapun, Satish K. Tickoo, Victor E. Reuter, Ying-Bei Chen
Renal low-grade oncocytic tumor (LOT) is a recently recognized renal cell neoplasm designated within the “other oncocytic tumors” category in the 2022 World Health Organization classification system. Although the clinicopathologic, immunohistochemical, and molecular features reported for LOT have been largely consistent, the data are relatively limited. The morphologic overlap between LOT and other
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Fifth Edition of the World Health Organization Classification of Tumors of the Hematopoietic and Lymphoid Tissues: Acute Lymphoblastic Leukemias, Mixed-Phenotype Acute Leukemias, Myeloid/Lymphoid Neoplasms With Eosinophilia, Dendritic/Histiocytic Neoplasms, and Genetic Tumor Syndromes Modern Pathol. (IF 7.5) Pub Date : 2024-03-07 John K. Choi, Wenbin Xiao, Xueyan Chen, Sanam Loghavi, Kojo S. Elenitoba-Johnson, Kikkeri N. Naresh, L. Jeffrey Medeiros, Magdalena Czader, WHO 5th Edition Classification Project
This manuscript represents a review of lymphoblastic leukemia/lymphoma (acute lymphoblastic leukemia/lymphoblastic lymphoma), acute leukemias of ambiguous lineage, mixed-phenotype acute leukemias, myeloid/lymphoid neoplasms with eosinophilia and defining gene rearrangements, histiocytic and dendritic neoplasms, and genetic tumor syndromes of the 5th edition of the World Health Organization Classification
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Profiling of Copy Number Alterations Using Low-Coverage Whole-Genome Sequencing Informs Differential Diagnosis and Prognosis in Primary Cutaneous Follicle Center Lymphoma Modern Pathol. (IF 7.5) Pub Date : 2024-03-07 Bence Bátai, Laura Kiss, Luca Varga, Ákos Nagy, Jacob Househam, Ann-Marie Baker, Tamás László, Anna Udvari, Róbert Horváth, Tibor Nagy, Judit Csomor, József Szakonyi, Tamás Schneider, Trevor A. Graham, Donát Alpár, Jude Fitzgibbon, Ágota Szepesi, Csaba Bödör
Primary cutaneous follicle center lymphoma (PCFCL) has an excellent prognosis using local treatment, whereas nodal follicular lymphoma (nFL), occasionally presenting with cutaneous spread, often requires systemic therapy. Distinction of the 2 diseases based on histopathology alone might be challenging. Copy number alterations (CNAs) have scarcely been explored on a genome-wide scale in PCFCL; however
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CHRNA6 RNA In Situ Hybridization Is a Useful Tool for the Diagnosis of Extraskeletal Myxoid Chondrosarcoma Modern Pathol. (IF 7.5) Pub Date : 2024-03-05 Ben W. Dulken, Leandra Kingsley, Sabrina Zdravkovic, Oscar Cespedes, Xiaohua Qian, David I. Suster, Gregory W. Charville
Extraskeletal myxoid chondrosarcoma (EMC) is an uncommon mesenchymal neoplasm characteristically composed of uniform-appearing round to spindle-shaped cells with eosinophilic cytoplasm and abundant myxoid extracellular matrix. Although the majority of cases harbor a pathognomonic t(9;22) translocation that fuses with the orphan nuclear receptor , there are less common variants that partner with ,
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Molecular and Clinical Portrait of HER2-low Invasive Lobular Carcinomas Modern Pathol. (IF 7.5) Pub Date : 2024-02-28 Lounes Djerroudi, Ahmad El Sabeh-Ayoun, Camille Benoist, Gaelle Pierron, Julien Masliah-Planchon, Laetitia Fuhrmann, Yann Kieffer, Matthieu Carton, Toulsie Ramtohul, Celine Callens, Victor Renault, François-Clément Bidard, Fatima Mechta-Grigoriou, Anne Vincent-Salomon
Invasive lobular carcinomas (ILCs) have a low frequency of amplification, therefore restricting the use of conventional anti-HER2 therapies for this histologic special type. Conversely, ILCs with low HER2 overexpression may represent a broader target for the use of emerging antibody drug conjugate therapies targeting HER2, since these treatments have proven effective in HER2-low breast cancers. Very
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Upgrade Rates of Variant Lobular Carcinoma In Situ Compared to Classic Lobular Carcinoma In Situ Diagnosed in Core Needle Biopsies: A 10-Year Single Institution Retrospective Study Modern Pathol. (IF 7.5) Pub Date : 2024-02-28 Lakshmi Harinath, Tatiana M. Villatoro, Beth Z. Clark, Jeffrey L. Fine, Jing Yu, Gloria J. Carter, Emilia Diego, Priscilla F. McAuliffe, Phuong Mai, Amy Lu, Margarita Zuley, Wendie A. Berg, Rohit Bhargava
The primary aim of this study was to determine the upgrade rates of variant lobular carcinoma in situ (V-LCIS, ie, combined florid [F-LCIS] and pleomorphic [P-LCIS]) compared with classic LCIS (C-LCIS) when diagnosed on core needle biopsy (CNB). The secondary goal was to determine the rate of progression/development of invasive carcinoma on long-term follow-up after primary excision. After institutional
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Atypical Spindle Cell/Pleomorphic Lipomatous Tumor With Sarcomatous Transformation: Clinicopathologic and Molecular Analysis of 4 Cases Modern Pathol. (IF 7.5) Pub Date : 2024-02-27 Raul Perret, Gregory W. Charville, Melissa Alame, Flora Rebier, Isabelle Soubeyran, John M. Gross, Daniel Graham, Donald C. Green, Darcy A. Kerr, Wahab A. Khan, Jeffrey M. Cloutier
Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a recently described adipocytic tumor predominantly affecting the subcutaneous soft tissues of adults. Previous studies have shown that ASPLT follows a benign clinical course with a 4% to 12% local recurrence rate and no risk of dedifferentiation. Herein, we describe the clinicopathologic and molecular findings of 4 cases of ASPLT showing
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Pathologic Assessment and Staging of Multiple Non–Small Cell Lung Carcinomas: A Paradigm Shift with the Emerging Role of Molecular Methods Modern Pathol. (IF 7.5) Pub Date : 2024-02-21 Jason C. Chang, Natasha Rekhtman
Non–small cell lung carcinomas (NSCLCs) commonly present as 2 or more separate tumors. Biologically, this encompasses 2 distinct processes: separate primary lung carcinomas (SPLCs), representing independently arising tumors, and intrapulmonary metastases (IPMs), representing intrapulmonary spread of a single tumor. The advent of computed tomography imaging has substantially increased the detection
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Recurrent Wnt Pathway and ARID1A Alterations in Sinonasal Olfactory Carcinoma Modern Pathol. (IF 7.5) Pub Date : 2024-02-16 Lisa M. Rooper, Abbas Agaimy, Diana Bell, Jeffrey Gagan, Gary L. Gallia, Vickie Y. Jo, James S. Lewis, Nyall R. London, Michiya Nishino, Robert Stoehr, Lester D.R. Thompson, Nasir Ud Din, Bruce M. Wenig, William H. Westra, Justin A. Bishop
Sinonasal tumors with neuroepithelial differentiation, defined by neuroectodermal elements reminiscent of olfactory neuroblastoma (ONB) and epithelial features such as keratin expression or gland formation, are a diagnostically challenging group that has never been formally included in sinonasal tumor classifications. Recently, we documented that most of these neuroepithelial neoplasms have distinctive
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HistoEM: A Pathologist-Guided and Explainable Workflow Using Histogram Embedding for Gland Classification Modern Pathol. (IF 7.5) Pub Date : 2024-02-16 Alessandro Ferrero, Elham Ghelichkhan, Hamid Manoochehri, Man Minh Ho, Daniel J. Albertson, Benjamin J. Brintz, Tolga Tasdizen, Ross T. Whitaker, Beatrice S. Knudsen
Pathologists have, over several decades, developed criteria for diagnosing and grading prostate cancer. However, this knowledge has not, so far, been included in the design of convolutional neural networks (CNN) for prostate cancer detection and grading. Further, it is not known whether the features learned by machine-learning algorithms coincide with diagnostic features used by pathologists. We propose
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Whole-Genome Sequencing Analysis of Male Breast Cancer Unveils Novel Structural Events and Potential Therapeutic Targets Modern Pathol. (IF 7.5) Pub Date : 2024-02-16 Majd Al Assaad, Olivier Michaud, Alissa Semaan, Michael Sigouros, Marvel Tranquille, Andy Phan, Max F. Levine, Gunes Gundem, Juan S. Medina-Martínez, Elli Papaemmanuil, Jyothi Manohar, David Wilkes, Andrea Sboner, Syed A.F. Hoda, Olivier Elemento, Juan Miguel Mosquera
The molecular characterization of male breast cancer (MaBC) has received limited attention in research, mostly because of its low incidence rate, accounting for only 0.5% to 1% of all reported cases of breast cancer each year. Managing MaBC presents significant challenges, with most treatment protocols being adapted from those developed for female breast cancer. Utilizing whole-genome sequencing (WGS)
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Unraveling the Significance of MET Focal Amplification in Lung Cancer: Integrative NGS, FISH, and IHC Investigation Modern Pathol. (IF 7.5) Pub Date : 2024-02-16 Chan Xiang, Xinze Lv, Ke Chen, Lianying Guo, Ruiying Zhao, Haohua Teng, Min Ye, Ting Kuang, Ting Hou, Chenglin Liu, Haiwei Du, Zhou Zhang, Yuchen Han
amplification (amp) represents a promising therapeutic target in non–small cell lung cancer, but no consensus has been established to identify amp-dependent tumors that could potentially benefit from MET inhibitors. In this study, an analysis of amplification/overexpression status was performed in a retrospectively recruited cohort comprising 231 patients with non–small cell lung cancer from Shanghai
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Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell Infiltration in Colorectal Cancer Modern Pathol. (IF 7.5) Pub Date : 2024-02-16 Hanna Elomaa, Jouni Härkönen, Sara A. Väyrynen, Maarit Ahtiainen, Shuji Ogino, Jonathan A. Nowak, Mai Chan Lau, Olli Helminen, Erkki-Ville Wirta, Toni T. Seppälä, Jan Böhm, Jukka-Pekka Mecklin, Teijo Kuopio, Juha P. Väyrynen
Indoleamine 2,3-dioxygenase (IDO) and arginase-1 (ARG1) are amino acid–metabolizing enzymes, frequently highly expressed in cancer. Their expression may deplete essential amino acids, lead to immunosuppression, and promote cancer growth. Still, their expression patterns, prognostic significance, and spatial localization in the colorectal cancer microenvironment are incompletely understood. Using a
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Prognostic Significance of Tumor-Infiltrating Lymphocytes and High-Risk Human Papillomavirus in Ocular Sebaceous Carcinoma: A Comprehensive Analysis Modern Pathol. (IF 7.5) Pub Date : 2024-02-16 Se Un Jeong, Joon Seon Song, Hee Jin Lee, Ho-Seok Sa, Kyung-Ja Cho
High-risk human papillomavirus (hrHPV) and tumor-infiltrating lymphocytes (TILs) are known to have prognostic significance in oropharyngeal squamous cell carcinoma. However, their significance in ocular sebaceous carcinoma (OSC) remains unverified because of the rarity of the condition. This study aimed to investigate the association between clinicopathologic features, biomarkers, and hrHPV infection
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Systematic Analysis of Homologous Recombination Deficiency Testing in Ovarian Cancer—Development of Recommendations for Optimal Assay Performance Modern Pathol. (IF 7.5) Pub Date : 2024-02-08 Marcel Romey, Fiona Rodepeter, Akira Hattesohl, Kristin Kaiser, Julia Teply-Szymanski, Florian Heitz, Annette Staebler, Violeta Serra, Albert Grass, Frederik Marmé, Kirsten M. Timms, Philipp Harter, Alba Llop-Guevara, Stefan Kommoss, Jelena Boekhoff, Carsten Denkert
Homologous recombination deficiency (HRD) assays are an important element of personalized oncology in ovarian carcinomas, but the optimal tissue requirements for these complex molecular assays remain unclear. As a result, a considerable percentage of assays are not successful, leading to suboptimal diagnoses for these patients. In this study, we have systematically analyzed tumor and tissue parameters
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Toward Deploying a Deep Learning Model for Diagnosis of Rhabdomyosarcoma Modern Pathol. (IF 7.5) Pub Date : 2024-02-08 David Joon Ho, Narasimhan P. Agaram, Arthur O. Frankel, Melvin Lathara, Daniel Catchpoole, Charles Keller, Meera R. Hameed
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Current Landscape of Advanced Imaging Tools for Pathology Diagnostics Modern Pathol. (IF 7.5) Pub Date : 2024-02-03 Tanishq Mathew Abraham, Richard Levenson
Histopathology relies on century-old workflows of formalin fixation, paraffin embedding, sectioning, and staining tissue specimens on glass slides. Despite being robust, this conventional process is slow, labor-intensive, and limited to providing two-dimensional views. Emerging technologies promise to enhance and accelerate histopathology. Slide-free microscopy allows rapid imaging of fresh, unsectioned
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Fifth Edition of the World Health Classification of Tumors of the Hematopoietic and Lymphoid Tissues: B-cell Neoplasms Modern Pathol. (IF 7.5) Pub Date : 2024-02-02 L. Jeffrey Medeiros, Amy Chadburn, Yasodha Natkunam, Kikkeri N. Naresh, WHO 5th Edition Classification Project
We review B-cell neoplasms in the 5th edition of the World Health Organization classification of hematolymphoid tumors (WHO-HEM5). The revised classification is based on a multidisciplinary approach including input from pathologists, clinicians, and other experts. The WHO-HEM5 follows a hierarchical structure allowing the use of family (class)-level definitions when defining diagnostic criteria are
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PITX2 as a Sensitive and Specific Marker of Midgut Neuroendocrine Tumors: Results from a Cohort of 1157 Primary Neuroendocrine Neoplasms Modern Pathol. (IF 7.5) Pub Date : 2024-02-01 Albert Grass, Atsuko Kasajima, Sebastian Foersch, Mark Kriegsmann, Alexander Brobeil, Maxime Schmitt, Daniel Wagner, Jelte Poppinga, Dominik Wiese, Elisabeth Maurer, Andreas Kirschbaum, Thomas Muley, Hauke Winter, Anja Rinke, Thomas M. Gress, Markus Kremer, Matthias Evert, Bruno Märkl, Alexander Quaas, Markus Eckstein, Markus Tschurtschenthaler, Günter Klöppel, Carsten Denkert, Detlef K. Bartsch, Moritz
As neuroendocrine tumors (NETs) often present as metastatic lesions, immunohistochemical assignment to a site of origin is one of the most important tasks in their pathologic assessment. Because a fraction of NETs eludes the typical expression profiles of their primary localization, additional sensitive and specific markers are required to improve diagnostic certainty.
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Follicular Lymphoma Presenting With Symptomatic Bone Involvement: A Clinicopathologic and Molecular Analysis of 16 Cases Modern Pathol. (IF 7.5) Pub Date : 2024-01-28 Rossella Sarro, Bettina Bisig, Baptiste Guey, Edoardo Missiaglia, Anne Cairoli, Patrick Omoumi, Igor Letovanec, Judith A. Ferry, Robert P. Hasserjian, Laurence de Leval
Primary bone lymphoma (PBL) is rare and mostly represented by diffuse large B-cell lymphomas (DLBCL). Follicular lymphoma (FL), albeit commonly disseminating to the bone marrow, rarely presents primarily as bone lesions. Here, we studied 16 patients (12 men:4 women, median age 60 years) who presented with bone pain and/or skeletal radiologic abnormalities revealing bone FL. Lesions were multifocal
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Reproducible Reporting of the Collection and Evaluation of Annotations for Artificial Intelligence Models Modern Pathol. (IF 7.5) Pub Date : 2024-01-28 Katherine Elfer, Emma Gardecki, Victor Garcia, Amy Ly, Evangelos Hytopoulos, Si Wen, Matthew G. Hanna, Dieter J.E. Peeters, Joel Saltz, Anna Ehinger, Sarah N. Dudgeon, Xiaoxian Li, Kim R.M. Blenman, Weijie Chen, Ursula Green, Ryan Birmingham, Tony Pan, Jochen K. Lennerz, Roberto Salgado, Brandon D. Gallas
This work puts forth and demonstrates the utility of a reporting framework for collecting and evaluating annotations of medical images used for training and testing artificial intelligence (AI) models in assisting detection and diagnosis. AI has unique reporting requirements, as shown by the AI extensions to the Consolidated Standards of Reporting Trials (CONSORT) and Standard Protocol Items: Recommendations
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MED15::ATF1-Rearranged Tumor: A Novel Cutaneous Tumor With Melanocytic Differentiation Modern Pathol. (IF 7.5) Pub Date : 2024-01-24 Jennifer S. Ko, Julie Lemahieu, Steven D. Billings, Franck Tirode, Diane Payton, Barbara Boone, Daniel Pissaloux, Arnaud de la Fouchardiere
We recently described novel dermal tumors with melanocytic differentiation and morphologic and biological similarities to cutaneous clear cell sarcoma, including cutaneous tumor, and clear cell tumors with melanocytic differentiation and either or . Here, we describe a series of 3 patients presenting with tumors reminiscent of cutaneous tumor, found to demonstrate a novel fusion. All 3 patients were
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SOX10-Internal Tandem Duplications and PLAG1 or HMGA2 Fusions Segregate Eccrine-Type and Apocrine-Type Cutaneous Mixed Tumors Modern Pathol. (IF 7.5) Pub Date : 2024-01-23 Nicolas Macagno, Thibault Kervarrec, Soumanth Thanguturi, Pierre Sohier, Daniel Pissaloux, Lenaïg Mescam, Marie-Laure Jullie, Eric Frouin, Amelie Osio, Monique Faisant, François Le Loarer, Bernard Cribier, Eduardo Calonje, Evelyn Vanesa Erazo Luna, Daniela Massi, Keisuke Goto, Haruto Nishida, Sandrine Paindavoine, Aurelie Houlier, Juliet Tantot, Nazim Benzerdjeb, Franck Tirode, Arnaud De la Fouchardière
Cutaneous mixed tumors exhibit a wide morphologic diversity and are currently classified into apocrine and eccrine types based on their morphologic differentiation. Some cases of apocrine-type cutaneous mixed tumors (ACMT), namely, hyaline cell–rich apocrine cutaneous mixed tumors (HCR-ACMT) show a prominent or exclusive plasmacytoid myoepithelial component. Although recurrent fusions of have been
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Prostate Cancer Risk Stratification by Simple Scoring of the Current pT3 Lesions: A Proposal for a New Pathologic T-Staging System Modern Pathol. (IF 7.5) Pub Date : 2024-01-23 Hiroshi Miyamoto, Yuki Teramoto, Numbereye Numbere, Ying Wang, Jean V. Joseph
Cancer spread beyond the prostate, including extraprostatic extension (other than seminal vesicle or bladder invasion; EPE)/microscopic bladder neck invasion and seminal vesicle invasion (SVI) currently classified as pT3a and pT3b lesions, respectively, does not uniformly indicate poor oncologic outcomes. Accurate risk stratification of current pT3 disease is therefore required. We herein further determined
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Molecular Screening in Anaplastic Lymphoma Kinase–Positive Anaplastic Large Cell Lymphoma: Anaplastic Lymphoma Kinase Analysis, Next-Generation Sequencing Fusion Gene Detection, and T-Cell Receptor Immunoprofiling Modern Pathol. (IF 7.5) Pub Date : 2024-01-23 Marketa Kalinova, Marcela Mrhalova, Edita Kabickova, Michael Svaton, Aneta Skotnicova, Zuzana Prouzova, Zdenka Krenova, Alexandra Kolenova, Martina Divoka, Eva Fronkova, Roman Kodet
Anaplastic lymphoma kinase–positive anaplastic large cell lymphoma (ALK+ ALCL) originates from the T-lineage and is marked by rearrangements of the gene. More than 10 fusion partners with the gene are known, with the most common being the t(2;5)(p23;q35) translocation resulting in the fusion. In 10% to 20% of the ALK+ ALCL cases, the gene fuses with various other partners. Modern molecular techniques
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Systematic Characterization of the Clinical and Pathological Features of Schwannomas Harboring SH3PXD2A::HTRA1 Fusion Modern Pathol. (IF 7.5) Pub Date : 2024-01-12 Jen-Chieh Lee, Pei-Hang Lee, Sung-Chou Li, Kuan-Cho Liao, Yi-Ming Chang, Hui-Chun Chen, Yu-Chien Kao, Pao-Shu Wu, Shih-Chiang Huang, Jen-Wei Tsai, Chia-Fa Hu, Chih-Hao Li, Ting-Ting Liu, Shih-Chen Yu, Jui-Chu Wang, Hsuan-Ying Huang
The understanding of schwannoma tumorigenesis has been reshaped by the recent identification of :: fusion in 10% of intracranial/spinal schwannomas. Nonetheless, pathologic features of schwannomas harboring this fusion, as well as its prevalence outside intracranial/spinal locations, have not been characterized. We screened 215 consecutive schwannomas for their clinicopathologic characteristics and
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Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Immunohistochemistry Can Be a Useful Ancillary Tool to Identify Perivascular Epithelioid Cell Tumor Modern Pathol. (IF 7.5) Pub Date : 2024-01-12 Sintawat Wangsiricharoen, Davis R. Ingram, Rohini R. Morey, Khalida Wani, Alexander J. Lazar, Wei-Lien Wang
Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors that express smooth muscle and melanocytic makers. Diagnosis of PEComas can be challenging due to focal or lost expression of traditional immunohistochemical markers, limited availability of molecular testing, and morphological overlap with much more common smooth muscle tumors. This study evaluates the use of glycoprotein nonmetastatic
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High-Plex Assessment of Biomarkers in Tumors Modern Pathol. (IF 7.5) Pub Date : 2024-01-12 Thazin N. Aung, Katherine M. Bates, David L. Rimm
The assessment of biomarkers plays a critical role in the diagnosis and treatment of many cancers. Biomarkers not only provide diagnostic, prognostic, or predictive information but also can act as effective targets for new pharmaceutical therapies. As the utility of biomarkers increases, it becomes more important to utilize accurate and efficient methods for biomarker discovery and, ultimately, clinical
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Characterizing the Genomic Landscape of the Micropapillary Subtype of Urothelial Carcinoma of the Bladder Harboring Activating Extracellular Mutations of ERBB2 Modern Pathol. (IF 7.5) Pub Date : 2024-01-12 Jessica M. Posada, Evgeny Yakirevich, Ashish M. Kamat, Akshay Sood, Joseph M. Jacob, Gennady Bratslavsky, Petros Grivas, Philippe E. Spiess, Roger Li, Andrea Necchi, Anthony E. Mega, Dragan J. Golijanin, Dean Pavlick, Richard S.P. Huang, Douglas Lin, Natalie Danziger, Ethan S. Sokol, Smruthy Sivakumar, Jeffrey S. Ross, Liang Cheng
The micropapillary subtype of urothelial carcinoma (MPUC) of the bladder is a very aggressive histological variant of urothelial bladder cancer (UBC). A high frequency of MPUC contains activating mutations in the extracellular domain (ECD) of . We sought to further characterize ECD-mutated MPUC to identify additional genomic alterations that have been associated with tumor progression and therapeutic
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Molecular and Clinicopathologic Characterization of Mismatch Repair-Deficient Endometrial Carcinoma Not Related to MLH1 Promoter Hypermethylation Modern Pathol. (IF 7.5) Pub Date : 2024-01-06 Merve Kaya, Cathalijne C.B. Post, Carli M. Tops, Maartje Nielsen, Emma J. Crosbie, Alexandra Leary, Linda R. Mileshkin, Kathy Han, Paul Bessette, Stephanie M. de Boer, Ina M. Jürgenliemk-Schulz, Ludy Lutgens, Jan J. Jobsen, Marie A.D. Haverkort, Remi A. Nout, Judith Kroep, Carien L. Creutzberg, Vincent T.H.B.M. Smit, Nanda Horeweg, Tom van Wezel, Tjalling Bosse
Universal tumor screening in endometrial carcinoma (EC) is increasingly adopted to identify individuals at risk of Lynch syndrome (LS). These cases involve mismatch repair-deficient (MMRd) EC without promoter hypermethylation (PHM). LS is confirmed through the identification of germline MMR pathogenic variants (PV). In cases where these are not detected, emerging evidence highlights the significance
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Tissue Contamination Challenges the Credibility of Machine Learning Models in Real World Digital Pathology Modern Pathol. (IF 7.5) Pub Date : 2024-01-06 Ismail Irmakci, Ramin Nateghi, Rujoi Zhou, Mariavittoria Vescovo, Madeline Saft, Ashley E. Ross, Ximing J. Yang, Lee A.D. Cooper, Jeffery A. Goldstein
Machine learning (ML) models are poised to transform surgical pathology practice. The most successful use attention mechanisms to examine whole slides, identify which areas of tissue are diagnostic, and use them to guide diagnosis. Tissue contaminants, such as floaters, represent unexpected tissue. Although human pathologists are extensively trained to consider and detect tissue contaminants, we examined
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Comparison of Immunohistochemistry, Next-generation Sequencing and Fluorescence In Situ Hybridization for Detection of MTAP Loss in Pleural Mesothelioma Modern Pathol. (IF 7.5) Pub Date : 2024-01-05 Christopher A. Febres-Aldana, Jason C. Chang, Achim A. Jungbluth, Prasad S. Adusumilli, Francis M. Bodd, Denise Frosina, Jerica A. Geronimo, Enmily Hernandez, Helen Irawan, Michael D. Offin, Natasha Rekhtman, William D. Travis, Chad Vanderbilt, Marjorie G. Zauderer, Yanming Zhang, Marc Ladanyi, Soo-Ryum Yang, Jennifer L. Sauter
9p21 deletions involving genes are detected in diffuse pleural mesotheliomas (DPM) but are absent in benign mesothelial proliferations. Loss of MTAP expression by immunohistochemistry (IHC) is well accepted as a surrogate for 9p21 deletion to support a diagnosis of DPM. Accurate interpretation can be critical in the diagnosis of DPM, but variations in antibody performance may impact interpretation
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Poor Diagnostic Reproducibility in the Identification of Nonconventional Dysplasia in Colitis Impacts the Application of Histologic Stratification Tools Modern Pathol. (IF 7.5) Pub Date : 2023-12-27 Nadia Nasreddin, Marnix Jansen, Maurice B. Loughrey, Lai Mun Wang, Viktor H. Koelzer, Manuel Rodriguez-Justo, Marco Novelli, Jennifer Fisher, Matthew W. Brown, Ibrahim Al Bakir, Ailsa L. Hart, Philip Dunne, Trevor A. Graham, Simon J. Leedham
Due to their increased cancer risk, patients with longstanding inflammatory bowel disease are offered endoscopic surveillance with concomitant histopathologic assessments, aimed at identifying dysplasia as a precursor lesion of colitis-associated colorectal cancer. However, this strategy is beset with difficulties and limitations. Recently, a novel classification criterion for colitis-associated low-grade
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EWSR1::WT1 Fusions in Neoplasms Other Than Conventional Desmoplastic Small Round Cell Tumor: Three Tumors Occurring Outside the Female Genital Tract Modern Pathol. (IF 7.5) Pub Date : 2023-12-27 Laura M. Warmke, Raul Perret, Pauline Ledoux, Audrey Michot, Antoine Italiano, Ying S. Zou, Andres Matoso, Pedram Argani, Thomas M. Ulbright, Daniel Baumhoer, Baptiste Ameline, John M. Gross
Desmoplastic small round cell tumor (DSRCT) is a high-grade, primitive round cell sarcoma classically associated with prominent desmoplastic stroma, coexpression of keratin and desmin, and a characteristic :: gene fusion. DSRCT typically arises in the abdominopelvic cavity of young males with diffuse peritoneal spread and poor overall survival. Although originally considered to be pathognomonic for
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Artificial Intelligence-Based Mitosis Scoring in Breast Cancer: Clinical Application Modern Pathol. (IF 7.5) Pub Date : 2023-12-27 Asmaa Ibrahim, Mostafa Jahanifar, Noorul Wahab, Michael S. Toss, Shorouk Makhlouf, Nehal Atallah, Ayat G. Lashen, Ayaka Katayama, Simon Graham, Mohsin Bilal, Abhir Bhalerao, Shan E. Ahmed Raza, David Snead, Fayyaz Minhas, Nasir Rajpoot, Emad Rakha
In recent years, artificial intelligence (AI) has demonstrated exceptional performance in mitosis identification and quantification. However, the implementation of AI in clinical practice needs to be evaluated against the existing methods. This study is aimed at assessing the optimal method of using AI-based mitotic figure scoring in breast cancer (BC). We utilized whole slide images from a large cohort
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PATZ1-rearranged tumors of the central nervous system: characterization of a pediatric series of seven cases. Modern Pathol. (IF 7.5) Pub Date : 2023-11-23 Sabrina Rossi,Sabina Barresi,Giovanna Stefania Colafati,Silvia Genovese,Chantal Tancredi,Valentino Costabile,Sara Patrizi,Isabella Giovannoni,Sofia Asioli,Pietro Luigi Poliani,Marina Paola Gardiman,Antonello Cardoni,Giada Del Baldo,Manila Antonelli,Francesca Gianno,Eleonora Piccirilli,Giorgia Catino,Licia Martucci,Denise Quacquarini,Francesco Toni,Fraia Melchionda,Elisabetta Viscardi,Mino Zucchelli
PATZ1: rearranged sarcomas are well recognized tumors as part of the family of round cell sarcoma with EWSR1-non-ETS fusions. Whether PATZ1-rearranged Central Nervous System (CNS) tumors are a distinct tumor type is debatable. We thoroughly characterized a pediatric series of PATZ1-rearranged CNS tumors by Chromosome Microarray Analysis (CMA), DNA methylation analysis, gene expression profiling and
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Comprehensive genomic analysis of cemento-ossifying fibroma. Modern Pathol. (IF 7.5) Pub Date : 2023-11-21 Ricardo Santiago Gomez,Ahmed El Mouatani,Filipe Fideles Duarte-Andrade,Thais Dos Santos Fontes Pereira,Letícia Martins Guimarães,Tenzin Gayden,Damien Faury,Emily M Nakada,Sylvie Langlois,Daniel Sinnett,Wagner Henriques de Castro,Marina Gonçalves Diniz,Nada Jabado,Carolina Cavalieri Gomes
Cemento-ossifying fibroma (COF) of the jaws is currently classified as a benign mesenchymal odontogenic tumor and only targeted approaches have been used to assess its genetic alterations. A minimal proportion of COFs harbor CDC73 somatic mutations, and copy number alterations (CNAs) involving chromosomes 7 and 12 have recently been reported in a small proportion of cases. However, the genetic background
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Comparative Clinicopathological and Genomic Analysis of Hepatocellular Neoplasm, NOS and Hepatoblastoma. Modern Pathol. (IF 7.5) Pub Date : 2023-11-20 Shengmei Zhou,Stephen F Sarabia,Dolores Estrine,Dejerianne Ostrow,Ryan J Schmidt,Mikako Warren,Gordana Raca,Nick Shillingford,Larry Wang,Bruce Pawel,James E Stein,Jaclyn A Biegel,Dolores Lopez-Terrada,Leo Mascarenhas,Jianling Ji
Accurate diagnosis and treatment of hepatocellular neoplasm, not otherwise specified (HCN-NOS), poses significant challenges. Our study aimed to investigate the clinicopathological and genomic similarities and differences between HCN-NOS and hepatoblastoma (HB) to guide diagnostic and treatment strategies. The clinicopathological characteristics of 16 patients with HCN-NOS and 23 patients with HB were
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GLI1-altered mesenchymal tumors with ACTB or PTCH1 fusion: a molecular and clinicopathologic analysis. Modern Pathol. (IF 7.5) Pub Date : 2023-11-20 Darcy A Kerr,Jeffrey M Cloutier,Matthew Margolis,Douglas A Mata,Nathalie J Rodrigues Simoes,William C Faquin,Dora Dias-Santagata,Shefali Chopra,Gregory W Charville,Sintawat Wangsiricharoen,Alexander J Lazar,Wei-Lien Wang,Andrew E Rosenberg,Julie Y Tse
Mesenchymal tumors with GLI1 fusions or amplifications have recently emerged as a distinctive group of neoplasms. The terms GLI1-altered mesenchymal tumor or GLI1-altered soft tissue tumor serve as a nosological category, though the exact boundaries/criteria require further elucidation. We examined 16 tumors affecting predominantly adults (median age: 40 years), without sex predilection. Several patients
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Canadian Multicentric Pan-TRK (CANTRK) Immunohistochemistry Harmonization Study. Modern Pathol. (IF 7.5) Pub Date : 2023-11-14 Martin D Hyrcza,Sebastiao N Martins-Filho,Alan Spatz,Han-Jun Wang,Bibianna M Purgina,Patrice Desmeules,Paul C Park,Gilbert Bigras,Sungmi Jung,Jean-Claude Cutz,Zhaolin Xu,David M Berman,Brandon S Sheffield,Carol C Cheung,Charles Leduc,David M Hwang,Diana Ionescu,Paul Klonowski,Myriam Chevarie-Davis,Rose Chami,Bryan Lo,Tracy L Stockley,Ming-Sound Tsao,Emina Torlakovic
Tumor-agnostic testing for NTRK1-3 gene rearrangements is required to identify patients who may benefit from TRK inhibitor therapies. The overarching objective of this study was to establish a high-quality pan-TRK immunohistochemistry (IHC) screening assay among 18 large regional pathology laboratories across Canada using pan-TRK monoclonal antibody clone EPR17341 in a ring study design. TRK-fusion
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Synovial Sarcoma of the Gastrointestinal Tract. Modern Pathol. (IF 7.5) Pub Date : 2023-11-14 Domenika Ortiz Requena,Teri A Longacre,Andrew E Rosenberg,Jaylou M Velez Torres,Natalia Yanchenko,Monica T Garcia-Buitrago,Lysandra Voltaggio,Elizabeth A Montgomery
We report the clinicopathologic and immunohistochemical features of 18 cases of confirmed primary synovial sarcoma of the gastrointestinal tract. The neoplasms arose in 10 women and 8 men ranging in age from 23 to 81 years (mean: 50; median: 57.5 years). The tumors for which size was known ranged from 1.8 to 15.0 cm (mean: 5.2; median: 5.1 cm). Microscopically, 14 synovial sarcomas were of the monophasic
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Gradual transition towards anaplasia in Wilms tumor through tolerance to genetic damage. Modern Pathol. (IF 7.5) Pub Date : 2023-11-09 Kaname Uno,Bahar Rastegar,Caroline Jansson,Geoffroy Durand,Anders Valind,Subhayan Chattopadhyay,Alessia Bertolotti,Sara Ciceri,Filippo Spreafico,Paola Collini,Daniela Perotti,Linda Holmquist Mengelbier,David Gisselsson
Patients with Wilms tumor (WT) in general have excellent survival, but the prognosis of patients belonging to the subgroup of WT with diffuse anaplasia (DA) is poor due to frequent resistance to chemotherapy. We hypothesized that DA WT cells might undergo changes, such as acquiring a persistent tolerance to DNA damage and copy number aberrations (CNAs), that could eventually lead to their resistance
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Corrigendum to "HER2-Low Breast Cancer: Incidence, Clinicopathologic Features, and Survival Outcomes From Real-World Data of a Large Nationwide Cohort" [Modern Pathology 36(4) 100087]. Modern Pathol. (IF 7.5) Pub Date : 2023-11-09 Ximena Baez-Navarro,Mieke R van Bockstal,Eleni-Rosalina Andrinopoulou,Carolien H M van Deurzen
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Corrigendum to "Epstein-Barr-virus-positive large B-cell lymphoma associated with breast implants: an analysis of eight patients suggesting a possible pathogenetic relationship." [Modern Pathology 34 (2021) 2154-2167]. Modern Pathol. (IF 7.5) Pub Date : 2023-11-08 L Jeffrey Medeiros,Mario L Marques-Piubelli,Valentina F I Sangiorgio,Roberto Ruiz-Cordero,Francisco Vega,Andrew L Feldman,Jennifer R Chapman,Mark W Clemens,Kelly K Hunt,Mark G Evans,Christine Khoo,Stephen Lade,Mark Silberman,Jerzy Morkowski,Edward M Pina,Daniel C Mills,Christopher M Bates,Winston B Magno,Aliyah R Sohani,Beth A Sieling,Joseph M O'Donoghue,Chris M Bacon,Neill Patani,Despina Televantou
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The complexity of shapes; how the circularity of tumor nodules impacts prognosis in colorectal cancer. Modern Pathol. (IF 7.5) Pub Date : 2023-11-03 N P M Brouwer,A Khan,J M Bokhorst,F Ayatollahi,J Hay,F Ciompi,F Simmer,N Hugen,J H W de Wilt,M D Berger,A Lugli,I Zlobec,J Edwards,I D Nagtegaal
The current stratification of tumor nodules in colorectal cancer (CRC) staging is subjective and leads to high interobserver variability. In this study, objective assessment of the shape of lymph node metastases (LNMs), extranodal extension (ENE) and tumor deposits (TDs) was correlated with outcome. A test and validation cohort were included from two different institutions. The test cohort consisted
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Dedifferentiated and Undifferentiated Ovarian Carcinoma: An Aggressive and Molecularly Distinct Ovarian Tumor Characterized by Frequent SWI/SNF Complex Inactivation. Modern Pathol. (IF 7.5) Pub Date : 2023-11-03 Basile Tessier-Cloutier,Felix K F Kommoss,David L Kolin,Kristýna Němejcová,DuPreez Smith,Jennifer Pors,Colin J R Stewart,W Glenn McCluggage,William D Foulkes,Andreas von Deimling,Martin Köbel,Cheng-Han Lee
Dedifferentiated and undifferentiated ovarian carcinomas (DDOC/UDOC) are rare neoplasms defined by the presence of an undifferentiated carcinoma. In this study, we detailed the clinical, pathological, immunohistochemical, and molecular features of a series of DDOC/UDOC. We collected a multi-institutional cohort of 23 DDOC/UDOC and performed immunohistochemistry for core switch/sucrose nonfermentable
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Non-Lobular Invasive Breast Carcinomas with Bi-Allelic Pathogenic CDH1 Somatic Alterations: a Histologic, Immunophenotypic and Genomic Characterization. Modern Pathol. (IF 7.5) Pub Date : 2023-11-02 Fatemeh Derakhshan,Arnaud Da Cruz Paula,Pier Selenica,Edaise M da Silva,Anne Grabenstetter,Sahar Jalali,Andrea M Gazzo,Higinio Dopeso,Antonio Marra,David N Brown,Dara S Ross,Diana Mandelker,Pedram Razavi,Sarat Chandarlapaty,Hannah Y Wen,Edi Brogi,Hong Zhang,Britta Weigelt,Fresia Pareja,Jorge S Reis-Filho
CDH1 encodes for E-cadherin, and its loss of function is the hallmark of invasive lobular carcinoma (ILC). Albeit vanishingly rare, bi-allelic CDH1 alterations may be found in non-lobular breast carcinomas (NL-BCs). We sought to determine the clinicopathologic characteristics and repertoire of genetic alterations of NL-BCs harboring CDH1 bi-allelic genetic alterations. Analysis of 5,842 breast cancers
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Intestinal-Type Adenocarcinoma in Head and Neck: Dissecting Oncogenic Gene Alterations Through Whole Transcriptome and Exome Analysis. Modern Pathol. (IF 7.5) Pub Date : 2023-10-31 Diana Bell,Achim H Bell,Randal S Weber,Ehab Y Hanna
Adenocarcinomas of the nasal/paranasal sinuses are uncommon, but intestinal-type adenocarcinomas (ITACs) are important. Due to the rarity of these tumors, their molecular profile is not well known. To further investigate the molecular profile and find potential oncogenic drivers, we compared the whole transcriptome and exome of ITACs at different anatomic locations in the head and neck. Twenty-one