Archives of pathology & laboratory medicine最新文献

{"title":"Comparison of Molecular Testing Methodologies for CIC-Rearranged Sarcomas.","authors":"Selene C Koo, Maria Cardenas, Patricia Stow, Jennifer Neary, David A Wheeler, Zonggao Shi, Larissa V Furtado","doi":"10.5858/arpa.2024-0407-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0407-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Molecular detection of a capicua transcriptional repressor (CIC) rearrangement is critical for diagnosing CIC-rearranged sarcoma (CIC-RS) but is analytically challenging.</p><p><strong>Objective.—: </strong>To compare the technical performance of fluorescence in situ hybridization (FISH), whole-transcriptome sequencing (RNA-seq), and DNA methylation profiling for CIC-rearrangement detection in a large, mainly pediatric cohort.</p><p><strong>Design.—: </strong>The study cohort consisted of 44 distinct patient tumors that were positive, equivocal, or suggestive for CIC rearrangement, including 18 central nervous system and 26 extra-central nervous system solid tumors. Forty tumors underwent FISH to detect CIC rearrangement, 31 underwent transcriptome sequencing, and 34 underwent methylation array analysis. Results for tumors tested by multiple testing modalities were compared.</p><p><strong>Results.—: </strong>Fusions were detected in 27 cases: CIC::double homeobox 4 (DUX4) (n = 15), CIC::NUT midline carcinoma family member 1 (NUTM1) (n = 4), CIC::leucine twenty homeobox (LEUTX) (n = 3), CIC::NUT family member 2B (NUTM2B) (n = 1), ataxin 1 (ATXN1)::NUTM1 (n = 1), ATXN1::NUT family member 2A/B (NUTM2A/B) (n = 1), CIC::DUX4 proximity effect (n = 1), and dedicator of cytokinesis 1 (DOCK1)::DUX4 (n = 1). Twenty-five tumors were tested by all 3 testing modalities. Apparent false-negative rates were 20% (3 of 15) for CIC FISH, 14% (2 of 14) for transcriptome sequencing, and 14% (2 of 14) for methylation array analysis. Both false-negative methylation array results had CIC::LEUTX fusion.</p><p><strong>Conclusions.—: </strong>Awareness of molecular testing pitfalls in the appropriate detection of CIC rearrangement is critical. Any CIC FISH result may need to be further confirmed, either with unequivocal immunohistochemical support or by another molecular method. A positive RNA-seq or methylation array analysis result may be sufficient evidence for a diagnosis of CIC-RS in the appropriate histologic context. A negative or inconclusive/unclassified RNA-seq or methylation array analysis result in a tumor with high initial suspicion for CIC-RS likely requires careful reevaluation.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476896","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":"Loss of H3K27me3 Is Not Specific to Malignant Triton Tumor: Immunohistochemical Analysis of 23 Cases of Embryonal Rhabdomyosarcoma.","authors":"Laura M Warmke, Jessica L Davis, Alyaa Al-Ibraheemi, Michael Arnold, Serena Tan, Archana Shenoy, Lea F Surrey, David M Parham, Erin R Rudzinski","doi":"10.5858/arpa.2024-0199-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0199-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Malignant peripheral nerve sheath tumor (MPNST) is a rare, often high-grade sarcoma. A small subset of MPNST shows evidence of heterologous rhabdomyoblastic differentiation, also known as malignant triton tumor (MTT). Immunohistochemical loss of histone 3 lysine 27 trimethylation (H3K27me3) has previously been described as a reliable marker for both MPNST and MTT.</p><p><strong>Objective.—: </strong>To assess the loss of H3K27me3 as a potential tool for discriminating MTT from embryonal rhabdomyosarcoma (ERMS).</p><p><strong>Design.—: </strong>We studied the immunohistochemical expression of H3K27me3 in 23 pediatric cases of confirmed ERMS. Of the 23 patients, 21 were male and 2 were female, with an age range of 2 months to 18 years (median, 5 years). Most of the tumors arose in the paratesticular soft tissue (n = 14), with other locations including the pelvis (n = 3), thigh (n = 2), abdomen (n = 1), orbit (n = 1), prostate gland (n = 1), and parotid gland (n = 1). All cases had characteristic morphologic features of ERMS.</p><p><strong>Results.—: </strong>By immunohistochemistry, all tested cases expressed desmin (18 of 18), myogenin (20 of 20), and MyoD1 (5 of 5). More than half of the cases (12 of 23; 52%) showed loss (nuclear absence) of H3K27me3, defined as staining in less than 5% of the tumor cells. The remaining cases demonstrated some degree of partial staining with H3K27me3, ranging from 5 to 40% of the tumor cells. No significant correlation between H3K27me3 expression and clinicopathologic features was identified.</p><p><strong>Conclusions.—: </strong>Loss of H3K27me3 frequently occurs in ERMS (52%) and is not reliable in distinguishing ERMS from MTT.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434583","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":"Artificial Intelligence-Based Classification of Renal Oncocytic Neoplasms: Advancing From a 2-Class Model of Renal Oncocytoma and Low-Grade Oncocytic Tumor to a 3-Class Model Including Chromophobe Renal Cell Carcinoma.","authors":"Katrina Collins, Shubham Innani, Kingsley Ebare, Mohammed Saad, Stephanie E Siegmund, Sean R Williamson, Fiona Maclean, Andres Matoso, Ankur Sangoi, Michelle S Hirsch, Dibson D Gondim, Andres M Acosta, Bhakti Baheti, Spyridon Bakas, Muhammad T Idrees","doi":"10.5858/arpa.2024-0374-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0374-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Distinguishing between renal oncocytic tumors, such as renal oncocytoma (RO), and a subset of tumors with overlapping characteristics, including the recently identified low-grade oncocytic tumor (LOT), can present a diagnostic challenge for pathologists owing to shared histopathologic features.</p><p><strong>Objective.—: </strong>To develop an automatic computational classifier for stratifying whole slide images of biopsy and resection specimens into 2 distinct groups: RO and LOT.</p><p><strong>Design.—: </strong>A total of 269 whole slide images from 125 cases across 6 institutions were collected. A weakly supervised attention-based multiple-instance-learning deep learning (DL) model was trained and initially evaluated through 5-fold cross validation with case-level stratification, followed by validation using an independent holdout data set. Quantitative performance evaluation was based on accuracy and the area under the receiver operating characteristic curve (AUC).</p><p><strong>Results.—: </strong>The developed model data set yielded generalizable performance, with a 5-fold average testing accuracy of 84% (AUC = 0.78), and a closely aligning accuracy of 83% (AUC = 0.92) on the independent holdout data set.</p><p><strong>Conclusions.—: </strong>The proposed artificial intelligence approach contributes toward a comprehensive solution for addressing commonly encountered renal oncocytic neoplasms, encompassing well-established entities like RO along with the challenging \"gray zone\" LOT, thereby proving applicable in clinical practice.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434579","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":"Turnaround Time for Image-Guided Breast Core Biopsies: A College of American Pathologists Survey Q-Probes Study.","authors":"Anthony J Guidi, Barbara J Blond, Thomas A Long, Suzanne N Coulter, Richard W Brown","doi":"10.5858/arpa.2024-0316-CP","DOIUrl":"https://doi.org/10.5858/arpa.2024-0316-CP","url":null,"abstract":"<p><strong>Context.—: </strong>Timely breast core biopsy results help expedite appropriate treatment for patients. Many institutions track turnaround times from biopsy to report; however, there are no established benchmarks to evaluate performance and identify potential improvement opportunities.</p><p><strong>Objective.—: </strong>To determine benchmark turnaround times for breast core biopsy reports and identify key drivers impacting turnaround time.</p><p><strong>Design.—: </strong>Participants enrolled in the College of American Pathologists Q-Probes study entitled Turnaround Time for Image-Guided Breast Needle Biopsy Specimens provided intervals for processing steps through report completion, and details regarding potential influencing variables.</p><p><strong>Results.—: </strong>Nineteen participants submitted data for 876 cases. The median turnaround time from accession to report completion was 31.0 hours, with a median time of 19.2 hours from accessioning to slide delivery to pathologists. The median time from biopsy to accessioning (3.4 hours) and slide delivery to report completion (7.5 hours) was notably shorter. Cases with malignant diagnoses were associated with longer median turnaround times than those with benign/atypical/borderline diagnoses (44.1 versus 29.4 hours; P = .04). Cases requiring additional testing or consultation were associated with longer median turnaround times than straightforward cases (45.3 versus 27.4 hours; P < .001). Fixation time variability was noted between laboratories (median, 11.0 hours; 10th and 90th percentile times: 7.1 and 31.3 hours, respectively). Variability was seen in the total processing times among laboratories (mean, 9.1 hours; range, 4.5-12.5 hours).</p><p><strong>Conclusions.—: </strong>Participating laboratories provided timely breast core biopsy results. Benchmark data presented may be useful for laboratories to assess performance and develop strategies for improvement.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434585","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 Multicenter Study to Evaluate Diagnostic Accuracy by Pathologists Using the Aperio GT 450 DX in Local and Remote Viewing Stations.","authors":"Alexander D Borowsky, Dylan V Miller, Thomas W Bauer, Richard M Feddersen, Dorina Gui, Brian J Hall, James E Albro, Isaac E Lloyd, John W Bishop, Morgan A Darrow, James H Spigel, David R Martin, Samuel J Reynolds, Thomas G McConnell, Eric F Glassy, Jonathan Zuckerman, Nathash S Kallichanda, Xiaozhi Zhou, Jenny V Lewis, Shubham Dayal, Joseph Chiweshe, Aysegul Ergin Sutcu, Michael White","doi":"10.5858/arpa.2024-0204-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0204-OA","url":null,"abstract":"<p><strong>Context.—: </strong>The adoption of digital pathology may enable pathologists to perform primary diagnosis in both local and remote whole slide image viewing settings, improving logistics and convenience.</p><p><strong>Objective.—: </strong>To test the performance of a new whole slide imaging system (Aperio GT 450 DX), both local intranet-based and remote internet-based viewing were compared with manual glass slide light microscopy.</p><p><strong>Design.—: </strong>A total of 1161 curated cases, enriched with difficult clinical diagnoses, were enrolled in this accuracy study and digitally scanned on 3 Aperio GT 450 DX instruments at 3 clinical sites. Ten reading pathologists across the 3 study sites viewed images either locally (directly connected to the image server) or remotely (viewed over an internet connection). Each diagnosis was scored (concordant, minor, or major discrepancy) by a separate team of 3 adjudication pathologists. The diagnostic accuracy of the Aperio GT 450 DX was tested by comparing the whole slide image review diagnosis with the conventional light microscope manual slide review diagnosis.</p><p><strong>Results.—: </strong>The difference in the major discrepancy rate between whole slide image review diagnosis and manual slide review diagnosis was 2.40% (95% CI, 1.40%-3.39%), meeting the predefined acceptance criterion of the 95% CI upper bound of 4% or less. Secondary end points were also met, including an upper bound of 7% or less and both local-only and remote-only upper-bound discrepancy rates of 4% or less. Major discrepancies were slightly lower for the remotely viewed cases (2.17%) compared with local direct server connection (2.61%), and time per read was not different.</p><p><strong>Conclusions.—: </strong>The diagnoses made using the Aperio GT 450 DX, using both local and remote access image data, are noninferior to the diagnoses made using conventional light microscopy.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411665","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":"Twenty-Four Years' Experience With a Pulmonary Pathology Journal Club: What Have We Learned?","authors":"Henry D Tazelaar, Marie-Christine Aubry, Anja C Roden, Cynthia Heltne, Carolyn Mead-Harvey, Matthew J Cecchini, Donald Guinee, Jeffrey L Myers","doi":"10.5858/arpa.2024-0331-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0331-OA","url":null,"abstract":"<p><strong>Context.—: </strong>A monthly pathology journal club has met for 24 years. It was established to help members stay apprised of the literature relevant to diagnostic pulmonary pathology.</p><p><strong>Objective.—: </strong>To assess whether the journal club met its goal and to report on opportunities identified for improvement.</p><p><strong>Design.—: </strong>To determine whether articles chosen for discussion as opposed to notation were more significant, Scopus citation indices for article types reviewed from January 2007 to November 2023 were compared. A survey of current faculty was undertaken to determine if the club was meeting expectations and to identify improvement opportunities.</p><p><strong>Results.—: </strong>Articles from January 2007 to November 2023 included 858 discussed and 3385 noted. Mean (SD) citation count was 103.0 (409.80) for discussion and 64.9 (259.77) for notation articles (P < .001). The citation count was noticeably right skewed, as articles with high citation counts inflated the mean. Members were mostly satisfied with the way the journal club was structured and managed. Members most valued the summary of the articles, followed by the live discussion. Opportunities for improvement included decreasing the number of journals scanned, decreasing detail in summaries, and using generative artificial intelligence (AI) to facilitate summary generation. A pilot using AI anecdotally reduced preparatory time, but the human-edited summary included more specific context, critical commentary, and enhanced take-home messages, providing a more nuanced analysis.</p><p><strong>Conclusions.—: </strong>The journal club met its initial goal. Opportunities for improvement have been identified including the use of generative AI to facilitate article summarization.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411854","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":"Intraoperative Evaluation of Pediatric Bone and Soft Tissue Lesions: Retrospective Analysis of 595 Frozen Sections With Emphasis on Discrepancy and Diagnostic Pitfalls.","authors":"Benjamin L Coiner, Hernán Correa, Joyce E Johnson, Jiancong Liang, Huiying Wang","doi":"10.5858/arpa.2024-0329-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0329-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Frozen section (FS) evaluation of pediatric bone and soft tissue (BST) lesions is infrequently encountered and may pose considerable diagnostic challenges. Limited data exist about the accuracy and related diagnostic difficulties.</p><p><strong>Objective.—: </strong>To identify and analyze discrepancy between the FS diagnosis and final diagnosis in order to increase the awareness of common diagnostic pitfalls in FS evaluation of pediatric BST lesions.</p><p><strong>Design.—: </strong>We retrospectively reviewed 595 consecutive FSs of pediatric BST lesions from 373 patients and analyzed the accuracy and causes for interpretation errors.</p><p><strong>Results.—: </strong>Discrepant diagnoses were found in 23 of 595 FSs (3.9%). Discrepancy rates were slightly higher in benign, soft tissue lesions and FSs requested for diagnosis/adequacy, although no statistically significant difference was observed. Pathologist misinterpretation contributed to discrepancy in 17 of 23 FSs (73.9%), which were classified into 6 patterns of error. For margin, 3 patterns were found: normal hematopoietic elements versus malignant cells in Ewing sarcoma bone marrow margin (n = 3), prominent sinonasal vasculature and stroma versus sinonasal tract angiofibroma (n = 3), and atrophic skeletal muscles versus malignant cells in rhabdomyosarcoma and Ewing sarcoma (n = 2). For diagnosis, another 3 patterns were identified: misclassification of benign bone tumors (n = 5), misclassification of benign spindle neoplasms (n = 2), and vascular malformation versus normal tissue (n = 2).</p><p><strong>Conclusions.—: </strong>FS is a valuable tool for guiding surgical management of pediatric BST lesions, which can be challenging entities and represent significant diagnostic pitfalls. Awareness of these FS pitfalls may help in further increasing diagnostic accuracy.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191422","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 Pathologic Diagnosis of Eosinophilic Esophagitis.","authors":"Mamoun Younes, Dorina Gui","doi":"10.5858/arpa.2024-0392-ED","DOIUrl":"https://doi.org/10.5858/arpa.2024-0392-ED","url":null,"abstract":"","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082620","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 Impact of Scoring Method on Accuracy and Reproducibility of Hans Cell-of-Origin Prediction in Excisional Biopsies of Diffuse Large B-Cell Lymphoma, Not Otherwise Specified.","authors":"Oleksandr Yanko, Andrew G Lytle, Pedro Farinha, Merrill Boyle, Graham W Slack, David W Scott, Jeffrey W Craig","doi":"10.5858/arpa.2024-0366-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0366-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Aided by tissue microarray (TMA) technology, several RNA-correlated immunohistochemistry-based algorithms have been developed for cell-of-origin (COO) prediction in diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS). However, there is currently no empirical evidence to guide the optimal application of these algorithms to whole tissue sections (WTSs).</p><p><strong>Objective.—: </strong>To assess the impact of various scoring methods on the accuracy and reproducibility of the popular Hans algorithm.</p><p><strong>Design.—: </strong>We compared 3 different WTS-based scoring methods, designated as global, selective, and hotspot scoring, to a matched TMA evaluation and gold standard RNA analysis (Lymph2Cx; germinal center B cell n = 64; activated B cell/unclassified n = 68) using a representative series of 132 excisional biopsies of de novo DLBCL-NOS. Positivity scores (10% increments) were submitted by 3 expert lymphoma pathologists, with 30% or more defining positivity.</p><p><strong>Results.—: </strong>Sixty-eight of the 132 cases of DLBCL-NOS (52%) exhibited variation in Hans immunohistochemistry marker phenotype as a consequence of scoring method and/or interscorer discordance. Although this led to changes in Hans COO assignment in 27 of 132 cases (20%), none of the WTS-based scoring methods were statistically inferior to one another in terms of raw accuracy. Hotspot scoring yielded the lowest proportion of borderline scores (20%-40% range) for BCL6 transcription repressor (BCL6) and IRF4 transcription factor (MUM1) but negatively impacted the balance between sensitivity and specificity for these markers. Selective scoring was associated with significantly worse interscorer concordance compared to TMA evaluation, which it was designed to replicate.</p><p><strong>Conclusions.—: </strong>Overall, our data favor the use of global scoring for its noninferior accuracy, solid interscorer concordance, nonnegative influence on individual Hans markers, and current widespread use.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082618","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":"Introducing Diagnostic Testing for Chronic Myeloid Leukemia in a Public Hospital Setting in Western Kenya.","authors":"Millicent Orido, Teresa Cherop Lotodo, Nicholas Kigen, Ryan Stohler, Terry A Vik, Gail H Vance","doi":"10.5858/arpa.2024-0264-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0264-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Chronic myeloid leukemia (CML) is a myeloproliferative disorder characterized by proliferation of the granulocytic cell line. The incidence of CML in Kenya is estimated at near 2000 cases annually. The disorder is associated with a poor prognosis without treatment. Tyrosine kinase inhibitors are approved for treatment in adults and children with confirmed disease. Diagnostic testing for CML in the public setting in Kenya is limited and not covered by the Kenyan National Health Insurance Fund.</p><p><strong>Objective.—: </strong>To establish a clinical fluorescence in situ hybridization assay for the diagnosis of CML in the Academic Model Providing Access to Healthcare (AMPATH) Reference Laboratory in Eldoret, Kenya.</p><p><strong>Design.—: </strong>Peripheral blood and bone marrow smears were split between the AMPATH Reference Laboratory and the Indiana University Cytogenetics Laboratory for concordance studies.</p><p><strong>Results.—: </strong>Seventeen specimens from patients with a provisional diagnosis of CML were studied by fluorescence in situ hybridization in both the AMPATH and Indiana University Cytogenetics laboratories. The analysis for 1 specimen could not be completed by both laboratories, and the results for 1 other specimen were discordant. The interpretations of 15 of 16 specimens (93.7%) were concordant. Normal specimens were also studied to establish the normal range for the assay.</p><p><strong>Conclusions.—: </strong>We report the establishment of diagnostic testing for CML in the AMPATH Reference Laboratory and the Moi Teaching and Referral Hospital in Eldoret, Kenya.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070312","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}