Archives of pathology & laboratory medicine最新文献

{"title":"Update on Sinonasal Tract Malignancies: Advances in Diagnostic Modalities.","authors":"Maria A Gubbiotti, Virginia LiVolsi, Kathleen T Montone","doi":"10.5858/arpa.2022-0447-RA","DOIUrl":"10.5858/arpa.2022-0447-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Sinonasal tract malignancies are rare cancers with frequent morphologic overlap. Given the similar histologic profiles seen in many of these entities, they often present a diagnostic challenge to the practicing pathologist.</p><p><strong>Objective.—: </strong>To provide a streamlined algorithm using histologic clues, immunohistochemical profiles, and molecular assays to aid in diagnosis of these lesions.</p><p><strong>Data sources.—: </strong>Sources were the World Health Organization Tumor Classification, literature review, and institutional experience.</p><p><strong>Conclusions.—: </strong>Although many sinonasal tract malignancies show similar histology, distinct immunohistochemical and molecular profiles can help parse out differences, thereby facilitating diagnosis for the pathologist.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"1082-1091"},"PeriodicalIF":3.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9111639","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Update on Salivary Gland Fine-Needle Aspiration and the Milan System for Reporting Salivary Gland Cytopathology.","authors":"Marc Pusztaszeri, Esther Diana Rossi, William C Faquin","doi":"10.5858/arpa.2022-0529-RA","DOIUrl":"10.5858/arpa.2022-0529-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Fine-needle aspiration (FNA) is a well-established procedure for the diagnosis and management of salivary gland lesions, despite challenges imposed by salivary gland tumor diversity, complexity, and cytomorphologic overlap. Until recently, the reporting of salivary gland FNA specimens was inconsistent among different institutions throughout the world, leading to diagnostic confusion among pathologists and clinicians. In 2015, an international group of pathologists initiated the development of an evidence-based tiered classification system for reporting salivary gland FNA specimens, the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC). The MSRSGC consists of 6 diagnostic categories, which incorporate the morphologic heterogeneity and overlap among various nonneoplastic, benign, and malignant lesions of the salivary glands. In addition, each MSRSGC diagnostic category is associated with a risk of malignancy and management recommendations.</p><p><strong>Objective.—: </strong>To review the current status of salivary gland FNA, core needle biopsies, ancillary studies, and the beneficial role of the MSRSGC in providing a framework for reporting salivary gland lesions and guiding clinical management.</p><p><strong>Data sources.—: </strong>Literature review and personal institutional experience.</p><p><strong>Conclusions.—: </strong>The main goal of the MSRSGC is to improve communication between cytopathologists and treating clinicians, while also facilitating cytologic-histologic correlation, quality improvement, and research. Since its implementation, the MSRSGC has gained international acceptance as a tool to improve reporting standards and consistency in this complex diagnostic area, and it has been endorsed by the 2021 American Society of Clinical Oncology management guidelines for salivary gland cancer. The large amount of data from published studies using MSRSGC served as a basis for the recent update of the MSRSGC.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"1092-1104"},"PeriodicalIF":3.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9522543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"BRAF Exon 15 Mutations in the Evaluation of Well-Differentiated Epithelial Nephroblastic Neoplasms in Children: A Report From the Children's Oncology Group Study AREN03B2.","authors":"Jeffery A Goldstein, Lindsay A Renfro, Lawrence J Jennings, Elizabeth A Mullen, James Geller, Kelly Vallance, Conrad V Fernandez, Elizabeth J Perlman","doi":"10.5858/arpa.2022-0528-OA","DOIUrl":"10.5858/arpa.2022-0528-OA","url":null,"abstract":"<p><strong>Context.—: </strong>The distinction between well-differentiated epithelial favorable-histology Wilms tumor (EFHWT) and metanephric adenoma (MA) in children has historically been determined by the required absence of both a fibrous pseudocapsule and mitotic activity in MA. More recently these features have been allowed in adult MA. Mutations in exon 15 of the BRAF gene are reported in up to 88% of MAs but have not been reported in EFHWTs in children lacking MA features.</p><p><strong>Objective.—: </strong>To clarify the pathologic and molecular features used to distinguish between pediatric MA and EFHWT.</p><p><strong>Design.—: </strong>Stage I epithelial tumors classified as EFHWT on central review (36 patients) were identified from the Children's Oncology Group AREN03B2 study. Thirteen tumors had morphologic features overlapping those of MA and 23 lacked such features; 35 of 36 had tissue available for sequencing of BRAF.</p><p><strong>Results.—: </strong>Patients with EFHWTs with MA features (13) were older (mean, 8.4 versus 1.9 years; P < .001), had smaller tumor diameters (mean, 6.0 versus 9.7 cm; P < .001), and had fewer mitoses (mean, 1 versus 48 mitoses per 10 high-power fields; P < .001) than patients with EFHWT lacking MA features (23). All EFHWTs with MA features contained at least a partial fibrous pseudocapsule; 7 of 12 (58%) had a BRAF exon 15 mutation. No BRAF exon 15 mutations were identified in 23 EFHWTs lacking MA features. None of the 13 EFHWT patients with MA features have experienced relapse (median follow-up 5.9 years).</p><p><strong>Conclusions.—: </strong>Pediatric epithelial neoplasms with features of MA that show partial encapsulation and/or modest mitotic activity may be classified as MAs. Although BRAF mutation supports the diagnosis of MA, it is not required for the diagnosis.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"e362-e366"},"PeriodicalIF":3.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11186972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138794576","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Creation of a Quality Payment Program Measure for Mismatch Repair or Microsatellite Instability Biomarker Testing Status in Colorectal, Endometrial, Gastroesophageal, or Small Bowel Carcinoma.","authors":"Gregary T Bocsi, Jennifer Laudadio, Richa Jain, Sarah M Eakin, Amarpreet Bhalla, Jonathan A Rosenberg, Jennifer K Maratt, Sonia S Kupfer, David A Leiman, Diana M Cardona","doi":"10.5858/arpa.2022-0418-OA","DOIUrl":"10.5858/arpa.2022-0418-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Quality measures that are supported by evidence-based clinical practice guidelines are preferred for assessing the quality of pathologists' practices. Careful testing of a measure ensures that scores obtained by that measure reflect the quality of a pathologist's practice.</p><p><strong>Objective.—: </strong>To specify a new quality measure and to demonstrate through testing that it is suitable for measuring pathologists' appropriate incorporation of information regarding microsatellite instability (MSI) and/or mismatch repair (MMR) status in pathology reports for colorectal, endometrial, gastroesophageal, and small bowel carcinoma.</p><p><strong>Design.—: </strong>The College of American Pathologists collaborated with the American Gastroenterological Association to specify and test the new measure. Face validity testing was used to investigate the validity of the measure. Feasibility testing was conducted to understand if data elements required by the measure specification were readily accessible. Signal-to-noise analysis was used to characterize the measure's reliability.</p><p><strong>Results.—: </strong>Guideline recommendations for MSI and/or MMR testing supported specifications for the measure. Face validity testing indicated that the measure could distinguish the quality of care provided. Data elements required by the measure specification were found to be accessible, which supported the measure's feasibility. Reliability testing showed that differences in measure score were attributable to real differences in performance rather than random variation in scoring.</p><p><strong>Conclusions.—: </strong>The Mismatch Repair or Microsatellite Instability Biomarker Testing Status in Colorectal Carcinoma, Endometrial, Gastroesophageal, or Small Bowel Carcinoma measure was appropriately specified, and testing demonstrated that it is well suited for characterizing the quality of pathologists' communication of MMR and/or MSI status.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"728-734"},"PeriodicalIF":3.7,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10296120","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pancreaticobiliary Cytology Practice in 2021: Results of a College of American Pathologists Survey.","authors":"Zaibo Li, Sana O Tabbara, Ann Nwosu, Rhona J Souers, Abha Goyal, Elizabeth M Kurian, Xiaoqi Lin, Christopher VandenBussche, Lananh N Nguyen","doi":"10.5858/arpa.2023-0167-CP","DOIUrl":"10.5858/arpa.2023-0167-CP","url":null,"abstract":"<p><strong>Context.—: </strong>The College of American Pathologists (CAP) surveys provide national benchmarks of pathology practice.</p><p><strong>Objective.—: </strong>To investigate pancreaticobiliary cytology practice in domestic and international laboratories in 2021.</p><p><strong>Design.—: </strong>We analyzed data from the CAP Pancreaticobiliary Cytology Practice Supplemental Questionnaire that was distributed to laboratories participating in the 2021 CAP Nongynecologic Cytopathology Education Program.</p><p><strong>Results.—: </strong>Ninety-three percent (567 of 612) of respondent laboratories routinely evaluated pancreaticobiliary cytology specimens. Biliary brushing (85%) was the most common pancreaticobiliary cytology specimen evaluated, followed by pancreatic fine-needle aspiration (79%). The most used sampling methods reported by 235 laboratories were 22-gauge needle for fine-needle aspiration (62%) and SharkCore needle for fine-needle biopsy (27%). Cell block was the most used slide preparation method (76%), followed by liquid-based cytology (59%) for pancreatic cystic lesions. Up to 95% (303 of 320) of laboratories performed rapid on-site evaluation (ROSE) on pancreatic solid lesions, while 56% (180 of 320) performed ROSE for cystic lesions. Thirty-six percent (193 of 530) of laboratories used the Papanicolaou Society of Cytopathology System for Reporting Pancreaticobiliary Cytology in 2021. Among all institution types, significant differences in specimen volume, specimen type, ROSE practice, and case sign-out were identified. Additionally, significant differences in specimen type, slide preparation, and ROSE practice were found.</p><p><strong>Conclusions.—: </strong>This is the first survey from the CAP to investigate pancreaticobiliary cytology practice. The findings reveal significant differences among institution types and between domestic and international laboratories. These data provide a baseline for future studies in a variety of practice settings.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"677-685"},"PeriodicalIF":3.7,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10215365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Implementation of Nongynecologic Reporting Systems in Cytopathology Laboratories Is Highly Variable: Analysis of Data From a 2020 Supplemental Survey of Participants in the College of American Pathologists Interlaboratory Comparison Program in Nongynecologic Cytology.","authors":"Christopher J VandenBussche, Ann Nwosu, Rhona Souers, Kaitlin E Sundling, Jennifer Brainard, Abha Goyal, Xiaoqi Lin, Shala Masood, Lananh Nguyen, Janie Roberson, Sana O Tabbara, Christine Booth","doi":"10.5858/arpa.2023-0010-CP","DOIUrl":"10.5858/arpa.2023-0010-CP","url":null,"abstract":"<p><strong>Context: </strong>In recent years, several reporting systems have been developed by national and international cytopathology organizations to standardize the evaluation of specific cytopathology specimen types.</p><p><strong>Objective: </strong>To assess the current implementation rates, implementation methods, and barriers to implementation of commonly used nongynecologic reporting systems in cytopathology laboratories.</p><p><strong>Design: </strong>Data were analyzed from a survey developed by the College of American Pathologists Cytopathology Committee and distributed to participants in the College of American Pathologists Nongynecologic Cytopathology Education Program mailing.</p><p><strong>Results: </strong>Nongynecologic reporting systems with the highest rate of adoption were the Bethesda System for Reporting Thyroid Cytopathology, 2nd edition (74.1%; 552 of 745); the Paris System for Reporting Urinary Cytology (53.9%; 397 of 736); and the Milan System for Reporting Salivary Gland Cytopathology (29.1%; 200 of 688). The most common reason given for not adopting a reporting system was satisfaction with a laboratory's current system. Implementation varied among laboratories with regard to which stakeholders were involved in deciding to implement a system and the amount of education provided during the implementation process.</p><p><strong>Conclusions: </strong>The implementation of nongynecologic reporting systems in cytopathology laboratories was highly variable.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"531-537"},"PeriodicalIF":3.7,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10096357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Reassessment of the Impact and Significance of Social Media to Pathology.","authors":"Stephanie J T Chen, Megan I Samuelson, Anand Rajan Kd","doi":"10.5858/arpa.2022-0463-RA","DOIUrl":"10.5858/arpa.2022-0463-RA","url":null,"abstract":"<p><strong>Context: </strong>Social media (SM) use in pathology and medicine today is widespread, receives active advocacy, and is said to bring a host of benefits. In latter days, the harmful effects of SM have received attention, but they have yet been followed by greater encouragement of professionalized SM usage. SM use in medicine has seen adoption in parallel to its general ascendancy, even though the platforms are products with purposes misaligned with the practice of medicine.</p><p><strong>Objective: </strong>To (1) characterize premises and forces that propel professional SM platform adoption and use, and (2) examine wide-ranging literature, both medical and nonmedical, that substantiates the premises and to find counteracting perspectives and evidence.</p><p><strong>Data sources: </strong>Review of the literature using relevant keyword searches in PubMed, Google Scholar, Dimensions, and Web of Science for articles that study/describe professional SM use in pathology and medicine. Additionally, we examined business, technology, and social sciences literature and high-quality gray literature (newspapers, books, blogs) that addressed questions in relation to the topic of professional SM adoption.</p><p><strong>Conclusions: </strong>We identified 6 major premises as motivators of professional SM use and highlight significant counteracting factors. We conclude that the harms of professionalized SM use have not been fully considered in the medical literature and that a change in direction and the creation of new communication platforms would be beneficial.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"613-622"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10101803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correlation of Red Blood Cell Casts With Renal Dysfunction in Patients With Infection-Related Glomerulonephritis.","authors":"Mineaki Kitamura, Laura Biederman, Dalia Ibrahim, Tibor Nadasdy, Sergey V Brodsky, Anjali A Satoskar","doi":"10.5858/arpa.2022-0514-OA","DOIUrl":"10.5858/arpa.2022-0514-OA","url":null,"abstract":"<p><strong>Context: </strong>Infection-related glomerulonephritis (IRGN) usually manifests as a proliferative immune-complex glomerulonephritis. The degree of renal dysfunction at presentation can vary. Association with histologic features on kidney biopsy remains unknown.</p><p><strong>Objective: </strong>To study the correlation between renal function in IRGN at the time of biopsy and the severity of histologic features.</p><p><strong>Design: </strong>Culture-proven IRGN cases at our facility were included and divided based on estimated glomerular filtration rate (eGFR) 15 ml/min/1.73 m2. Patients' demographic and pathologic findings were obtained from electronic medical records and kidney biopsy reports.</p><p><strong>Results: </strong>In total, 104 cases were diagnosed with IRGN on biopsy (mean age, 55.6 ± 15.6 years; male, n = 79 [76%]; median eGFR, 14.5 mL/min/1.73 m2), and 51 of 104 showed eGFR <15 mL/min/1.73 m2. Among all the histologic features assessed, only percent tubules with red blood cell (RBC) casts showed statistical difference, being significantly higher in the lower-eGFR group (P = .004). Multivariable logistic regression analysis also showed that %tubules with RBC casts were associated with lower eGFR (odds ratio, 1.12; 95% CI, 1.01-1.24; P = .01). Patients with 5% or more RBC casts (n = 31) showed a lower eGFR (P = .02) and a higher %cellular crescent (P < .001) compared with those with less than 5% RBC casts. Patients with concomitant anticoagulant therapy (n = 11) showed higher percentages of RBC casts than those without anticoagulants (P = .02).</p><p><strong>Conclusions: </strong>Particular attention to the extent of RBC casts on kidney biopsy is recommended in patients with IRGN because these portend worse renal dysfunction, more so in patients requiring anticoagulation (including for hemodialysis) because they are especially vulnerable to developing anticoagulant-related nephropathy.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"545-552"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10124079","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical Droplet Digital Polymerase Chain Reaction Patterns That Indicate Uncommon but Clinically Actionable EGFR Mutations in Lung Cancer.","authors":"Adam Lechner, Anooja Rai, Vanesa Rojas-Rudilla, Yanan Kuang, Cloud P Paweletz, Lynette M Sholl, Fei Dong","doi":"10.5858/arpa.2023-0088-OA","DOIUrl":"10.5858/arpa.2023-0088-OA","url":null,"abstract":"<p><strong>Context: </strong>Droplet digital polymerase chain reaction (ddPCR) is a sensitive method to detect common pathogenic EGFR mutations in non-small cell lung cancer. Although targeted assays have not been specifically designed to detect them, uncommon EGFR mutations have been linked to response to targeted therapy.</p><p><strong>Objective: </strong>To describe atypical ddPCR patterns that correspond to uncommon but clinically actionable EGFR mutations.</p><p><strong>Design: </strong>A cohort of 1134 consecutive non-small cell lung cancers that underwent targeted next-generation sequencing was reviewed. Uncommon EGFR mutations involving probe binding sites were evaluated by ddPCR.</p><p><strong>Results: </strong>Two hundred fifty-five of 1134 cancers (22.5%) harbored pathogenic EGFR mutations. One hundred eighty-six of 255 (72.9%) had canonical EGFR exon 19 deletion or exon 21 p.L858R variants designed for detection by ddPCR. An additional 25 of 255 cases (9.8%) had uncommon EGFR mutations within the probe-binding site, including 1 case with concurrent uncommon mutations in both exon 19 and exon 21. These mutations included uncommon EGFR exon 19 deletions (n = 6), EGFR exon 19 substitutions p.L747P (n = 3) and p.L747A (n = 1), dinucleotide substitutions leading to EGFR p.L858R (n = 5), EGFR exon 21 substitutions p.K860I (n = 1) and p.L861Q (n = 9), and EGFR p.[L858R;K860I] (n = 1). Droplet digital polymerase chain reaction generated atypical but reproducible signal for each of these uncommon variants.</p><p><strong>Conclusions: </strong>Droplet digital polymerase chain reaction analysis of uncommon pathogenic EGFR variants can yield unique and reproducible results. Recognition of atypical patterns in EGFR ddPCR testing can prompt confirmatory molecular testing and aid appropriate targeted therapy selection for patients with non-small cell lung cancer.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"553-558"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10483879","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"RNA Sequencing for Solid Tumor Fusion Gene Detection: Proficiency Testing Practice and Performance Comparison.","authors":"Julia A Bridge, Kevin C Halling, Joel T Moncur, Rhona J Souers, Meera R Hameed, Helen Fernandes, Angshumoy Roy, Lea Surrey, Laura J Tafe, Patricia Vasalos, Dolores H Lopez-Terrada","doi":"10.5858/arpa.2023-0047-CP","DOIUrl":"10.5858/arpa.2023-0047-CP","url":null,"abstract":"<p><strong>Context: </strong>Next-generation sequencing-based approaches using RNA have increasingly been used by clinical laboratories for the detection of fusion genes, intragenic rearrangements, and exon-skipping events. Correspondingly, the College of American Pathologists (CAP) has advanced RNA sequencing proficiency testing (PT) to ensure optimal performance of these assays.</p><p><strong>Objective: </strong>To report on laboratory performance and practices of RNA sequencing for the detection of fusion genes, intragenic rearrangements, and exon-skipping events using CAP PT data from 8 mailings (2018-A through 2021-B).</p><p><strong>Design: </strong>CAP PT RNA sequencing program results from 153 laboratories across 24 proficiency test specimens, interrogating 22 distinct engineered fusion transcripts, were analyzed for correct identification of the fusion event, associated performance variables, and laboratory practices.</p><p><strong>Results: </strong>Overall, the 4-year program detection rate (sensitivity) was 95.5% (1486 of 1556 results). False-negative rates were 3.6% (53 of 1463) and 18.3% (17 of 93) for fusion gene and intragenic rearrangement/exon-skipping events, respectively. Only 19 false-positive results were reported among the 8 PT mailings, and most were likely the result of preanalytical or postanalytical errors. There were no practice characteristics (eg, instrumentation, sequencing method) significantly associated with the fusion detection results.</p><p><strong>Conclusions: </strong>These data reveal a high overall sensitivity and specificity for fusion gene detection by participating laboratories using clinical RNA sequencing. Performance was comparable across all laboratories, regardless of methodology. The fraction of false-negative results for intragenic rearrangement/exon-skipping events was greater than that for the chimeric fusion genes. False-negative results could not be attributed to any specific practice characteristics.</p>","PeriodicalId":8305,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":"538-544"},"PeriodicalIF":4.6,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9933558","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}