Archives of pathology & laboratory medicine最新文献

{"title":"Technical Competency Assessment of Peripheral Blood Smears: Tools and Trends Learned From 2 College of American Pathologists Q-Probes Studies.","authors":"Jeffrey A Vos, Girish Venkataraman, Liuyan Jennifer Jiang, Barbara J Blond, Suzanne Coulter, Rhona J Souers","doi":"10.5858/arpa.2024-0259-CP","DOIUrl":"https://doi.org/10.5858/arpa.2024-0259-CP","url":null,"abstract":"<p><strong>Context.—: </strong>Morphologic evaluation of peripheral blood smears provides valuable information to diagnose and manage a variety of hematologic disorders.</p><p><strong>Objective.—: </strong>To measure the competency of the technical staff in the morphologic evaluation of peripheral blood smears and provide performance trends.</p><p><strong>Design.—: </strong>Participating technologists accessed 10 whole slide-imaged peripheral blood smears through a web-based imaging tool in 2 separate studies. Participants performed a 100-cell differential and morphologic evaluation for each slide image. Grading criteria, determined by 3 hematopathologists, were weighted according to their clinical significance (score range, 0-100 for each case). Each institution and participant answered a questionnaire to assess the impact of current practices and educational programs on competency scores.</p><p><strong>Results.—: </strong>A total of 776 technologists from 92 institutions participated in study 1 and 1495 technologists from 179 institutions participated in study 2. Median performance scores for institutions were 78.9 and 87.6 for studies 1 and 2, respectively, encompassing a range of hematologic disorders. Based on results of the questionnaire for study 1, higher performance scores were seen when institutions required a specific number of continuing education credits per year through an agency (P = .005). In study 2, institutions with remediation procedures following a failed competency demonstrated higher performance scores (P = .03).</p><p><strong>Conclusions.—: </strong>Medical technologist competency of peripheral blood smears improves with level of experience and is positively impacted through attending educational programs. Whole slide images offer a convenient means of assessing technical competence and provide data to allow institutions to appropriately focus their procedures and educational efforts.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142883862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Significance of Detecting an Unusual Myeloblast Immunophenotype in a Presumptive Clinical Diagnosis of Myelodysplastic Syndromes.","authors":"Fnu Sameeta, Wei Wang, Fatima Zahra Jelloul, Okechukwu V Nwogbo, Beenu Thakral, Jie Xu, Shaoying Li, Chi Young Ok, Guilin Tang, Fuli Jia, L Jeffrey Medeiros, Sanam Loghavi, Jeffrey L Jorgensen, Sa A Wang","doi":"10.5858/arpa.2024-0228-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0228-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Blasts in myelodysplastic syndromes (MDSs) typically have a primitive myeloid immunophenotype (CD34+CD117+CD13+CD33+HLA-DR+). On rare occasions, blasts were found to be CD34 negative or minimally expressed in a presumptive MDS.</p><p><strong>Objective.—: </strong>To investigate the occurrence of these cases, and to examine any unique molecular genetic features, and clinical relevance.</p><p><strong>Design.—: </strong>Over 2000 flow cytometry immunophenotyping tests for MDS performed during a 5-year period were retrospectively reviewed. Chronic myelomonocytic leukemia and overt acute myeloid leukemia (AML) (≥20% blasts) were excluded.</p><p><strong>Results.—: </strong>Approximately 800 cases had abnormal myeloblasts consistent with myeloid neoplasms; 96% of cases showed a typical primitive phenotype, but 31 patients (4%) had unusual blasts that were either completely or partially negative for CD34. Of the latter, recurrent genetic abnormalities were identified in 13 (42%) including 10 with nucleophosmin 1 (NPM1) mutation, 1 with lysine methyltransferase 2A (KMT2A) rearrangement, and 2 with t(3;5)(q25.3;q35.1)/NPM1::myeloid leukemia factor 1 (MLF1). These cases were classified as MDS prior to the 2022 classifications, but 9 of 13 (69%) and 7 of 13 (52%) cases would be reclassified as AML according to the 5th edition of the World Health Organization classification and the International Consensus Classification, respectively. Eight cases (26%) had multihit tumor protein p53 (TP53) mutation, and 6 of them were ultimately diagnosed as or quickly evolved to pure erythroid leukemia. Of the remaining 10 cases, 4 uncharacteristically had no detectable molecular genetic abnormalities.</p><p><strong>Conclusions.—: </strong>Our data show that, if a presumptive MDS shows a nonprimitive blast phenotype, caution is needed to rule out AML with recurrent genetic abnormality with an oligoblastic presentation, high-risk myeloid neoplasms with double-hit TP53 mutation with abnormal erythroid proliferation, and MDS with molecular-genetic and clinical features more akin to AML.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deployment of a Machine Learning Algorithm in a Real-World Cohort for Quality Control Monitoring of Human Epidermal Growth Factor-2-Stained Clinical Specimens in Breast Cancer.","authors":"Benjamin Glass, Michel E Vandenberghe, Surya Teja Chavali, Syed Ashar Javed, Murray Resnick, Harsha Pokkalla, Hunter Elliott, Sudha Rao, Shamira Sridharan, Jacqueline A Brosnan-Cashman, Ilan Wapinski, Michael Montalto, Andrew H Beck, Craig Barker","doi":"10.5858/arpa.2024-0111-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0111-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Precise determination of biomarker status is necessary for clinical trial enrollment and endpoint analyses, as well as for optimal treatment determination in real-world practice. However, variabilities may be introduced into this process due to the processing of clinical specimens by different laboratories and assessment by distinct pathologists. Machine learning tools have the potential to minimize inconsistencies, although their use is not presently widespread.</p><p><strong>Objective.—: </strong>To assess the applicability of machine learning to the quality control process for biomarker scoring in oncology, we developed and validated an automated machine learning model to be applied as a quality control tool for monitoring the assessment of human epidermal growth factor-2 (HER2).</p><p><strong>Design.—: </strong>The model was trained using whole slide images from multiple sources to quantify HER2 expression and measure immunohistochemistry stain intensity, tumor area, and the presence of artifacts or ductal carcinoma in situ across breast cancer phenotypes. The quality control tool was deployed in a real-world cohort of HER2-stained breast cancer sample images collected from routine diagnostic practice to evaluate trends in HER2 testing quality indicators and between pathology laboratories.</p><p><strong>Results.—: </strong>Automated image analysis for HER2 scoring is consistent and reliable using this algorithm. Deployment of the HER2 quality control tool across 3 clinical laboratories revealed interlaboratory variability in HER2 scoring and inconsistencies in data reporting.</p><p><strong>Conclusions.—: </strong>These results support the future incorporation of quality control algorithms for real-time monitoring of clinical laboratories contributing to clinical trials in oncology and in the real-world setting of HER2 immunohistochemistry testing in local clinical laboratories and hospitals.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142848452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pulmonary Adenocarcinoma Updates: Histology, Cytology, and Grading.","authors":"Jake Sharma, Fang Zhou, Andre L Moreira","doi":"10.5858/arpa.2023-0540-RA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0540-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Adenocarcinomas are the most common histologic subtype of lung cancer, and exist within a widely divergent clinical, radiologic, molecular, and histologic spectrum. There is a strong association between histologic patterns and prognosis that served as the basis for a recently described grading system. As the study of molecular pathology rapidly evolves, all targetable mutations so far have been found in adenocarcinomas, thus requiring accurate diagnosis and classification for triage of molecular alterations and adequate therapy.</p><p><strong>Objective.—: </strong>To discuss the rationale for adenocarcinoma classifications within the 2021 5th edition of the World Health Organization, with a focus on nonmucinous tumors, including tumor grading and biopsy/cytology diagnosis.</p><p><strong>Data sources.—: </strong>PubMed search.</p><p><strong>Conclusions.—: </strong>A grading system for adenocarcinoma has improved prognostic impact of the classification of pulmonary adenocarcinoma. An accurate diagnosis of adenocarcinoma in small biopsy material is important for tissue triage for molecular studies and ultimately for patient management and treatment.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142820246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Development and Evaluation of a Convolutional Neural Network for Cutaneous Melanoma Detection in Whole Slide Images.","authors":"Emily L Clarke, Derek Magee, Julia Newton-Bishop, William Merchant, Robert Insall, Nigel G Maher, Richard A Scolyer, Grace Farnworth, Anisah Ali, Sally O'Shea, Darren Treanor","doi":"10.5858/arpa.2024-0094-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0094-OA","url":null,"abstract":"<p><strong>Context.—: </strong>The current melanoma staging system does not account for 26% of the variance seen in melanoma-specific survival, therefore our ability to predict patient outcome is not fully elucidated. Morphology may be of greater significance than in other solid tumors, with Breslow thickness remaining the strongest prognostic indicator despite being subject to high levels of interobserver variation. The application of convolutional neural networks to whole slide images affords objective morphologic metrics, which may reveal new insights into patient prognosis.</p><p><strong>Objective.—: </strong>To develop and evaluate a convolutional neural network for invasive cutaneous melanoma detection in whole slide images for the generation of objective prognostic biomarkers based on tumor morphology.</p><p><strong>Design.—: </strong>One thousand sixty-eight whole slide images containing cutaneous melanoma from 5 data sets have been used in the initial development and evaluation of the convolutional neural network. A 2-class tumor segmentation network with a fully convolutional architecture was trained using sparse annotations. The network was evaluated at per-pixel and per-tumor levels as compared to manual annotation, as well as variation across 3 scanning platforms.</p><p><strong>Results.—: </strong>The convolutional neural network located conventional cutaneous invasive melanoma tissue with an average per-pixel sensitivity and specificity of 97.59% and 99.86%, respectively, across the 5 test sets. There were high levels of concordance between the tumor dimensions generated by the model as compared to manual annotation, and between the tumor dimensions generated by the model across 3 scanning platforms.</p><p><strong>Conclusions.—: </strong>We have developed a convolutional neural network that accurately detects invasive cutaneous conventional melanoma in whole slide images from multiple data sources. Future work should assess the use of this network to generate metrics for survival prediction.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815243","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Simple Morphometric Analysis of Preoperative Therapy Response for Esophageal Adenocarcinoma.","authors":"Madhurya Ramineni, Rena X Li, Xiaoyan Liao, Yansheng Hao","doi":"10.5858/arpa.2024-0167-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0167-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Histologic assessment of tumor regression grade (TRG) on esophagogastrectomy specimens after neoadjuvant therapy is an excellent predictor of local recurrence rate and long-term survival in esophageal adenocarcinomas. Although several grading systems exist globally, the modified Ryan system suggested by the College of American Pathologists (CAP) is widely used in North America. Most systems rely on quantitative percentage estimation of the residual tumor with or without additional qualitative descriptors, which is relatively subjective with poor interobserver agreement.</p><p><strong>Objective.—: </strong>To test a morphometric-based approach using the microscopic objective lens to estimate the size of the largest focus of the residual tumor.</p><p><strong>Design.—: </strong>A total of 69 esophageal specimens post neoadjuvant therapy were evaluated. Tumor size was morphometrically determined by the microscopic field, using an Olympus microscope with ×10/×22 eyepieces. Residual viable tumor was categorized into 4 groups, using ×2, ×4, and ×10 objectives: less than or equal to an ×10 field; larger than an ×10 field but less than or equal to an ×4 field; larger than an ×4 field but less than an ×2 field; and larger than or equal to an ×2 field.</p><p><strong>Results.—: </strong>Morphometric measurements significantly correlated with the CAP treatment effect scores. There was no significant difference in overall survival between larger than or equal to ×2 and ×2 to ×4 groups; however, a 3-tier system (TRG1: ≤ ×10, TRG2: > ×10 and ≤ ×4, and TRG3: > ×4) showed significant survival differences (P = .01). Significant differences in the percentage of lymphovascular and perineural invasion, advanced TNM stage, and lymph node metastasis were identified among the 3 groups.</p><p><strong>Conclusions.—: </strong>The proposed 3-tier morphometric approach based on microscopic field size is a simple and easy-to-use method, which helps stratify patients into 3 groups with distinct histopathologic features and overall survival.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can Morphology and Immune Infiltration Predict the Homologous Recombination Deficiency Status in Newly Diagnosed High-Grade Serous Ovarian Carcinoma?","authors":"Amel Kime, Guillaume Bataillon, Isabelle Treilleux, Céline Callens, Frédéric Selle, Florian Heitz, Saverio Cinieri, Antonio González-Martin, Christian Schauer, Gabriel Lindahl, Gabriella Parma, Ignace Vergote, Takashi Matsumoto, Cyriac Blonz, Ulrich Canzler, Anna Maria Mosconi, Eva María Guerra Alía, Eric Pujade-Lauraine, Catherine Genestie, Isabelle Ray-Coquard, Pierre-Alexandre Just","doi":"10.5858/arpa.2024-0081-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0081-OA","url":null,"abstract":"<p><strong>Context.—: </strong>A correlation between the morphology of ovarian high-grade serous carcinomas (HGSOCs) and BRCA mutations has been previously reported.</p><p><strong>Objective.—: </strong>To investigate, beyond BRCA, the association between the morphology of HGSOC and the presence of homologous recombination deficiency (HRD).</p><p><strong>Design.—: </strong>We reviewed 522 of 806 cases of HGSOC from the PAOLA-1 clinical trial, including 163 cases with tumor BRCA mutation, 345 cases without tumor BRCA mutation, and 14 cases with inconclusive BRCA tests. Regarding HRD status (myChoice HRD Plus assay), 269 cases (52%) were positive (HRD+), 198 (38%) negative (HRD-), and 55 (10%) inconclusive. Morphologic analysis included tumor architecture (with more than 25% of solid, pseudoendometrioid, and transitional patterns defining a SET architecture), tumor-infiltrating intraepithelial lymphocytes (ieTILs), and tumor stromal lymphocytes (sTILs).</p><p><strong>Results.—: </strong>SET architecture (51% versus 40%, P = .02), high number of ieTILs (16% versus 8%, P = .007) and more than 10% of sTILs (27% versus 18%, P = .02) were associated with tumor BRCA mutation, mostly for tumors with a BRCA1 mutation. These criteria were also associated with HRD status: 54% versus 33% (P < .001) for SET architecture, 14% versus 6% (P = .008) for high number of ieTILs, and 27% versus 15% (P = .003) for more than 10% of sTILs. SET architecture was also significantly associated with HRD+ tumors without tumor BRCA mutation (P < .001) when compared with HRD- tumors. The combination of these 3 criteria showed high specificity (0.99; 95% CI, 0.97-0.99) but low sensitivity (0.07; 95% CI, 0.04-0.10).</p><p><strong>Conclusions.—: </strong>The morphology of HGSOC correlates with HRD status and BRCA status but cannot substitute for molecular analysis in daily practice.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histologic Reaction Patterns of Lymph Node Involvement in Ovarian Serous Borderline Tumors.","authors":"Jisup Kim, Kyu-Rae Kim","doi":"10.5858/arpa.2024-0191-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0191-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Lymph node (LN) involvement (LNI) is not infrequently observed in ovarian serous borderline tumors (SBTs) but is not considered equivalent to malignant tumor metastasis, as it reportedly does not impact recurrence or survival in patients with SBT. However, the reasons underlying the insignificant clinical impact of LNI remain unclear.</p><p><strong>Objective.—: </strong>To determine whether histologic reaction patterns (HRPs) are associated with SBT prognosis.</p><p><strong>Design.—: </strong>We compared HRPs around tumor cell clusters in LNs of patients with SBT and low-grade serous carcinoma. HRPs were classified into 4 categories (HRP 1-HRP 4) based on tumor cell location in LNs, the presence of their adhesion to surrounding lymphoid tissue, or pericellular desmoplastic reactions.</p><p><strong>Results.—: </strong>Although LNI itself was linked to reduced recurrence-free survival (RFS), no recurrence was observed in patients with HRP 1 or 2, characterized by freely floating tumor cells in the lumens of afferent/efferent lymphatics or intranodal sinus with surrounding free spaces. Conversely, HRP 3 or higher, characterized by firm tumor cell adhesion to lymphoid tissue (HRP 3) or peritumoral desmoplastic reaction (HRP 4), independently impacted RFS, albeit not overall survival.</p><p><strong>Conclusions.—: </strong>The prognosis of SBT with LNI is not uniformly favorable, and HRPs around the LNI significantly influence patient outcomes. Patients with firm tumor cell adhesion to surrounding tissue, with or without peritumoral desmoplastic reaction (HRP ≥3), independently experience decreased RFS, although this does not correlate with reduced overall survival.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction to Generative Artificial Intelligence: Contextualizing the Future.","authors":"Rajendra Singh, Ji Yeon Kim, Eric F Glassy, Rajesh C Dash, Victor Brodsky, Jansen Seheult, M E Doc de Baca, Qiangqiang Gu, Shannon Hoekstra, Bobbi S Pritt","doi":"10.5858/arpa.2024-0221-RA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0221-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Generative artificial intelligence (GAI) is a promising new technology with the potential to transform communication and workflows in health care and pathology. Although new technologies offer advantages, they also come with risks that users, particularly early adopters, must recognize. Given the fast pace of GAI developments, pathologists may find it challenging to stay current with the terminology, technical underpinnings, and latest advancements. Building this knowledge base will enable pathologists to grasp the potential risks and impacts that GAI may have on the future practice of pathology.</p><p><strong>Objective.—: </strong>To present key elements of GAI development, evaluation, and implementation in a way that is accessible to pathologists and relevant to laboratory applications.</p><p><strong>Data sources.—: </strong>Information was gathered from recent studies and reviews from PubMed and arXiv.</p><p><strong>Conclusions.—: </strong>GAI offers many potential benefits for practicing pathologists. However, the use of GAI in clinical practice requires rigorous oversight and continuous refinement to fully realize its potential and mitigate inherent risks. The performance of GAI is highly dependent on the quality and diversity of the training and fine-tuning data, which can also propagate biases if not carefully managed. Ethical concerns, particularly regarding patient privacy and autonomy, must be addressed to ensure responsible use. By harnessing these emergent technologies, pathologists will be well placed to continue forward as leaders in diagnostic medicine.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142781258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fumarate Hydratase-Deficient Renal Cell Carcinoma With Predominant Tubulocystic Features Mimics Tubulocystic Renal Cell Carcinoma.","authors":"Xiaoqun Yang, Yang Liu, Huafeng Wang, Yunze Xu, Huizhi Zhang, Ming Zhao, Xiaoqing Luo, Hongtao Jin, Ji Xiong, Lili Tao, Jiankun Xu, Luting Zhou, Xiangyun Li, Haimin Xu, Lei Dong, Chaofu Wang","doi":"10.5858/arpa.2023-0330-OA","DOIUrl":"10.5858/arpa.2023-0330-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) rarely exhibits a predominant tubulocystic architecture with few other components. RCC with pure tubules and cysts lined by eosinophilic tumor cells with prominent nucleoli would raise the diagnosis of tubulocystic RCC. It is important to differentiate the 2 entities because they lead to different outcomes.</p><p><strong>Objective.—: </strong>To address this concern, a multicenter study was implemented to explore useful clinicopathologic features in differentiation between tubulocystic FH-deficient RCC and tubulocystic RCC.</p><p><strong>Design.—: </strong>Clinical factors included age, sex, tumor size, and outcome. Morphologic factors included cell morphology, presence or absence of a nontubulocystic component, and stromal findings. Immunohistochemistry, fluorescence in situ hybridization, and next-generation sequencing were performed to explore the protein expression and molecular profiles of the 2 entities.</p><p><strong>Results.—: </strong>We evaluated 6 patients with tubulocystic RCC and 10 patients with tubulocystic FH-deficient RCC. Tubulocystic RCC exhibited a small size (<4.0 cm, pT1a), low Ki-67 index (<5%), retained FH, and negative 2SC expression. Tubulocystic FH-deficient RCC had a relatively large size and a high Ki-67 index. Perinucleolar haloes, loss of FH, and 2SC positivity were always observed. Pure tubulocystic architecture was not observed in FH-deficient RCC, because focal nontubulocystic components can always be seen.</p><p><strong>Conclusions.—: </strong>We emphasized multiple sectioning to identify a nontubulocystic architecture to exclude tubulocystic RCC. Moreover, tumor size, FH/2SC staining, and the Ki-67 index can differentiate tubulocystic FH-deficient RCC from tubulocystic RCC. The diagnosis of tubulocystic RCC was not recommended in renal mass biopsy because of the limited tissues sampled.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"1358-1364"},"PeriodicalIF":0.0,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139934657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}