Archives of pathology & laboratory medicine最新文献

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ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer. ZMIZ1::ABL1 融合:小儿癌症中具有临床意义的罕见分子事件。
Archives of pathology & laboratory medicine Pub Date : 2024-05-16 DOI: 10.5858/arpa.2024-0082-OA
Kevin T A Booth, Rachael R Schulte, Laurin Smith, Hongyu Gao, Ryan A Stohler, Yunlong Liu, Shalini C Reshmi, Gail H Vance
{"title":"ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer.","authors":"Kevin T A Booth, Rachael R Schulte, Laurin Smith, Hongyu Gao, Ryan A Stohler, Yunlong Liu, Shalini C Reshmi, Gail H Vance","doi":"10.5858/arpa.2024-0082-OA","DOIUrl":"https://doi.org/10.5858/arpa.2024-0082-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Pediatric B-cell acute lymphoblastic leukemia is genetically and phenotypically heterogeneous, with a genetic landscape including chromosomal translocations that disrupt ABL proto-oncogene 1, non-receptor tyrosine kinase (ABL1).</p><p><strong>Objective.—: </strong>To characterize an uncommon chromosomal translocation in acute leukemia.</p><p><strong>Design.—: </strong>Genetic testing, including karyotype and fluorescence in situ hybridization (FISH) analysis, was used to determine the underlying genetic aberration driving the disorder and to guide disease classification and risk stratification. More-detailed testing using RNA sequencing was performed, based on the results from these assays. Three-dimensional molecular modeling was used to visualize the impact of aberrant fused transcripts identified by transcriptome profiling.</p><p><strong>Results.—: </strong>Karyotype analysis of the bone marrow demonstrated a complex karyotype with, most notably, a t(9;10)(q34.1;q22) translocation. ABL1 break-apart probe FISH findings supported ABL1 disruption. Bone marrow transcriptome analysis revealed mutant ZMIZ1::ABL1 (ZMIZ1, zinc finger MIZ-type containing 1) fusion transcripts as a consequence of t(9;10)(q34.1;q22). Three-dimensional modeling of the mutant ZMIZ1::ABL1 fusion protein confirmed an altered ABL1 protein structure compared to that of the wild type, suggesting a constitutively active conformation.</p><p><strong>Conclusions.—: </strong>The t(9;10) translocation resulting in ZMIZ1::ABL1 fusion transcripts is an uncommon form of BCR::ABL1-like (BCR, BCR activator of RhoGEF and GTPase) acute lymphoblastic leukemia. Although the karyotype was complex, identifying the t(9;10)(q34.1;q22) translocation, ABL1 disruption, and ZMIZ1::ABL1 transcript enabled effective ABL1-targeted treatment. Our data support the use of tyrosine kinase inhibitors to treat ZMIZ1::ABL1-derived B-cell acute lymphoblastic leukemia.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945559","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}
引用次数: 0
Genetic Landscape and Its Prognostic Impact in Children With Langerhans Cell Histiocytosis. 朗格汉斯细胞组织细胞增生症患儿的遗传特征及其预后影响
Archives of pathology & laboratory medicine Pub Date : 2024-05-16 DOI: 10.5858/arpa.2023-0236-OA
Chan-Juan Wang, Lei Cui, Shuang-Shuang Li, Hong-Hao Ma, Dong Wang, Hong-Yun Lian, Yun-Ze Zhao, Li-Ping Zhang, Wei-Jing Li, Qing Zhang, Xiao-Xi Zhao, Ying Yang, Xiao-Tong Huang, Wei Liu, Yi-Zhuo Wang, Wan-Shui Wu, Tian-You Wang, Rui Zhang, Zhi-Gang Li
{"title":"Genetic Landscape and Its Prognostic Impact in Children With Langerhans Cell Histiocytosis.","authors":"Chan-Juan Wang, Lei Cui, Shuang-Shuang Li, Hong-Hao Ma, Dong Wang, Hong-Yun Lian, Yun-Ze Zhao, Li-Ping Zhang, Wei-Jing Li, Qing Zhang, Xiao-Xi Zhao, Ying Yang, Xiao-Tong Huang, Wei Liu, Yi-Zhuo Wang, Wan-Shui Wu, Tian-You Wang, Rui Zhang, Zhi-Gang Li","doi":"10.5858/arpa.2023-0236-OA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0236-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm that predominantly affects young children.</p><p><strong>Objective.—: </strong>To investigate genetic alterations and their correlation with clinical characteristics and prognosis in pediatric LCH.</p><p><strong>Design.—: </strong>We performed targeted sequencing to detect mutations in LCH lesions from pediatric patients.</p><p><strong>Results.—: </strong>A total of 30 genomic alterations in 5 genes of the MAPK pathway were identified in 187 of 223 patients (83.9%). BRAF V600E (B-Raf proto-oncogene, serine/threonine kinase) was the most common mutation (51.6%), followed by MAP2K1 (mitogen-activated protein kinase kinase 1) alterations (17.0%) and other BRAF mutations (13.0%). ARAF (A-Raf proto-oncogene, serine/threonine kinase) and KRAS (KRAS proto-oncogene, GTPase) mutations were relatively rare (2.2% and 0.9%, respectively). Additionally, FNBP1 (formin-binding protein 1)::BRAF fusion and MAP3K10 (mitogen-activated protein kinase kinase 10) mutations A17T and R823C were identified in 1 case each, with possible constitutive activation of ERK1/2 phosphorylation. BRAF V600E was more frequent in patients with risk organ involvement, while MAP2K1 mutation was more prevalent in patients with single-system LCH (P = .001). BRAF V600E was associated with craniofacial bone, skin, liver, spleen, and ear involvement (all P < .05). Patients with other BRAF mutations had a higher proportion of spinal column involvement (P = .006). Univariate analysis showed a significant difference in progression-free survival among the 4 molecular subgroups for patients treated with first-line therapy (P = .02). According to multivariate analysis, risk organ involvement was the strongest independent adverse prognostic factor (hazard ratio, 8.854; P < .001); BRAF or MAP2K1 mutation was not an independent prognostic factor.</p><p><strong>Conclusions.—: </strong>Most pediatric patients with LCH carry somatic mutations involving the MAPK pathway, correlating with clinical characteristics and outcomes for first-line chemotherapy.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945435","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}
引用次数: 0
Laboratory Considerations for Releasing Next-Generation Sequencing Data to Patients. 实验室向患者发布新一代测序数据的注意事项。
Archives of pathology & laboratory medicine Pub Date : 2024-05-14 DOI: 10.5858/arpa.2023-0419-CP
Ann Moyer, Eric Loo, Evan Cadoff, Eric Konnick, Helena Duncan, Jaimie Halley, Katherine Hermina, Patricia Vasalos, Joel T Moncur, Sophia Yohe
{"title":"Laboratory Considerations for Releasing Next-Generation Sequencing Data to Patients.","authors":"Ann Moyer, Eric Loo, Evan Cadoff, Eric Konnick, Helena Duncan, Jaimie Halley, Katherine Hermina, Patricia Vasalos, Joel T Moncur, Sophia Yohe","doi":"10.5858/arpa.2023-0419-CP","DOIUrl":"https://doi.org/10.5858/arpa.2023-0419-CP","url":null,"abstract":"<p><strong>Context.—: </strong>Title 45, section 164.524 of the Code of Federal Regulations states that health care systems must provide patient health records upon that patient's request. For complex testing, such as next-generation sequencing (NGS), this raises questions related to what data should be released and the laboratory considerations regarding the release of this data.</p><p><strong>Objective.—: </strong>To describe the laboratory implications of releasing different NGS data files and the limitations for the clinical use of different NGS data files.</p><p><strong>Design.—: </strong>The College of American Pathologists workgroup, composed of laboratorians with expertise regarding NGS testing, reviewed pertinent literature, including title 45, section 164.524, and the Health and Human Services \"Guidance on Individuals' Right to Access Health Information.\"</p><p><strong>Result.—: </strong>From an accreditation standpoint, validation of NGS includes both the wet bench and data processing (bioinformatics) portions, and appropriately validated laboratory testing is required to ensure quality patient results. NGS testing generates intermediate data files that have not completed the fully validated process but are often kept by the laboratory. These files may be requested by patients, but most patients will not be aware of the test validation process and the limitations of data that have not gone through a fully validated process.</p><p><strong>Conclusions.—: </strong>Laboratories should encourage patients to receive their health data and to help individuals understand the content, uses, and limitations of laboratory data they have requested or received. NGS data used in a nonvalidated manner should not be used for clinical purposes without confirmation by a clinically validated method.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140915880","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}
引用次数: 0
Intraoperative Frozen Section Evaluation of Pancreatic Specimens and Related Liver Lesions. 胰腺标本及相关肝脏病变的术中冷冻切片评估。
Archives of pathology & laboratory medicine Pub Date : 2024-05-13 DOI: 10.5858/arpa.2023-0359-RA
Jennifer Vazzano, Wei Chen, Wendy L Frankel
{"title":"Intraoperative Frozen Section Evaluation of Pancreatic Specimens and Related Liver Lesions.","authors":"Jennifer Vazzano, Wei Chen, Wendy L Frankel","doi":"10.5858/arpa.2023-0359-RA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0359-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Frozen sections are essential in the surgical management of patients, especially those with pancreatic masses, because frozen sections can provide answers intraoperatively and aid in treatment decisions. Pancreas frozen sections are challenging because of the small tissue size, processing artifacts, neoadjuvant treatment effects, and concurrent pancreatitis-like obstructive changes. The authors present a review of intraoperative evaluation of pancreatic specimens.</p><p><strong>Objectives.—: </strong>To provide an approach to the diagnosis of pancreatic adenocarcinoma on frozen sections and to discuss commonly encountered pitfalls. Indications for pancreas frozen sections and specific margin evaluation will be discussed. We will also review frozen section diagnosis of subcapsular liver lesions and tumors other than metastases of pancreatic ductal adenocarcinoma.</p><p><strong>Data sources.—: </strong>Data sources included a literature review and the personal experiences of the authors.</p><p><strong>Conclusions.—: </strong>The features for diagnosis of pancreatic adenocarcinoma include disordered architecture, glands at abnormal locations, and atypical cytology. It is important to be aware of the pitfalls and clues on frozen section. The evaluation of resection margins can be challenging, and in the setting of the resection of cystic tumors, the key is the diagnosis of high-grade dysplasia or cancer. Finally, it is vital to remember the differential diagnosis for subcapsular liver lesions because not all lesions will be metastases of adenocarcinomas or bile duct adenomas. Frozen sections remain a useful tool for the intraoperative management of patients with pancreatic tumors.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913486","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}
引用次数: 0
Development of a Scoring Rubric Assessing Medical Students' Explanations of Pathology Reports. 开发评估医学生病理报告解释的评分标准。
Archives of pathology & laboratory medicine Pub Date : 2024-05-10 DOI: 10.5858/arpa.2023-0462-OA
Felisha M Davis, Jonathan Bowling, Ashish T Khanchandani, Michael C Larkins, Dmitry Tumin, Sunil Badami, Ahmed K Alomari, Shoujun Chen, Moiz Vora, Yaolin Zhou
{"title":"Development of a Scoring Rubric Assessing Medical Students' Explanations of Pathology Reports.","authors":"Felisha M Davis, Jonathan Bowling, Ashish T Khanchandani, Michael C Larkins, Dmitry Tumin, Sunil Badami, Ahmed K Alomari, Shoujun Chen, Moiz Vora, Yaolin Zhou","doi":"10.5858/arpa.2023-0462-OA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0462-OA","url":null,"abstract":"<p><strong>Context.—: </strong>With increasing availability of immediate patient access to pathology reports, it is imperative that all physicians be equipped to discuss pathology reports with their patients. No validated measures exist to assess how pathology report findings are communicated during patient encounters.</p><p><strong>Objective.—: </strong>To pilot a scoring rubric evaluating medical students' communication of pathology reports to standardized patients.</p><p><strong>Design.—: </strong>The rubric was iteratively developed using the Pathology Competencies for Medical Education and Accreditation Council for Graduate Medical Education pathology residency milestones. After a brief training, third- and fourth-year medical students completed 2 standardized patient encounters, presenting simulated benign and malignant pathology reports. Encounters were video recorded and scored by 2 pathologists to calculate overall and item-specific interrater reliability.</p><p><strong>Results.—: </strong>All students recognized the need for pathology report teaching, which was lacking in their medical curriculum. Interrater agreement was high for malignant report scores (intraclass correlation coefficient, 0.65) but negligible for benign reports (intraclass correlation coefficient, 0). On malignant reports, most items demonstrated good interrater agreement, except for discussing the block (cassette) summary, explaining the purpose of the pathology report, and acknowledging uncertainty. Participating students (N = 9) felt the training was valuable given their limited prior exposure to pathology reports.</p><p><strong>Conclusions.—: </strong>This pilot study demonstrates the feasibility of using a structured rubric to assess the communication of pathology reports to patients. Our findings also provide a scalable example of training on pathology report communication, which can be incorporated in the undergraduate medical curriculum to equip more physicians to facilitate patients' understanding of their pathology reports.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900648","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}
引用次数: 0
Localized Urinary Bladder Amyloidosis as Urothelial Cancer Mimicker. 局部膀胱淀粉样变性是尿道癌的模仿者
Archives of pathology & laboratory medicine Pub Date : 2024-05-10 DOI: 10.5858/arpa.2023-0559-OA
Aayushma Regmi, Maitri Mehta, Ahmer V Farooq, Thomas M Turk, Eva M Wojcik, Maria M Picken
{"title":"Localized Urinary Bladder Amyloidosis as Urothelial Cancer Mimicker.","authors":"Aayushma Regmi, Maitri Mehta, Ahmer V Farooq, Thomas M Turk, Eva M Wojcik, Maria M Picken","doi":"10.5858/arpa.2023-0559-OA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0559-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Localized amyloidosis of the bladder is rare and often mimics bladder malignancy. It is typically associated with the extracellular deposition of monoclonal light chains, either κ or λ. The cause is unknown, but it is thought to be due to chronic inflammation/cystitis.</p><p><strong>Objective.—: </strong>To highlight the importance of localized urinary bladder amyloidosis as a rare mimicker of urothelial malignancy and elucidate its clinical, histopathologic, and cytopathologic manifestations.</p><p><strong>Design.—: </strong>Cases of urinary bladder amyloidosis diagnosed during 2000-2023 were retrieved retrospectively from pathology archives. Electronic medical records, including cystoscopy findings and pathology slides including Congo red stain, were reviewed.</p><p><strong>Results.—: </strong>Here we present 6 patients with localized urinary bladder amyloidosis. Four of the 6 patients were women, with ages ranging from 46 to 69 years, and a mean age of 58 years. Five of 6 patients presented with hematuria, while in 1 patient, bladder amyloidosis was discovered incidentally. Cystoscopy findings invariably were concerning for malignancy, with raised erythema in 5 patients and fungating mass protruding into the bladder lumen in 1 patient. Bladder biopsies and urine cytology were negative for malignancy in all cases. Congo red-positive amyloid deposits involved lamina propria with sparing of the detrusor muscle. In 5 cases, the deposits were typed as derived from the λ light chain, whereas no information was available for 1 patient. Subsequent clinical workup ruled out systemic amyloidosis.</p><p><strong>Conclusions.—: </strong>These cases of urinary bladder amyloidosis highlight the importance of considering rare amyloidosis in the differential diagnosis of hematuria and cystoscopy with a lesion mimicking malignancy.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900671","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}
引用次数: 0
Cancer Biomarkers V: Update on B-Cell Lymphoma Biomarkers. 癌症生物标志物V:B细胞淋巴瘤生物标志物的更新。
Archives of pathology & laboratory medicine Pub Date : 2024-05-01 DOI: 10.5858/arpa.2023-0056-RA
Genevieve M Crane
{"title":"Cancer Biomarkers V: Update on B-Cell Lymphoma Biomarkers.","authors":"Genevieve M Crane","doi":"10.5858/arpa.2023-0056-RA","DOIUrl":"10.5858/arpa.2023-0056-RA","url":null,"abstract":"<p><strong>Context: </strong>Pathologists play an increasingly critical role in optimizing testing on scant specimens to ensure patients not only receive a correct and timely diagnosis, but also that the appropriate evaluation of biologic markers, or \"biomarkers,\" is performed to inform prognosis and best guide therapeutic options. Advances in biomarkers have been particularly impactful in the field of hematopathology, where the identification of cytogenetic abnormalities, specific mutations, morphologic features, and/or protein expression may help guide clinical decision-making, including type and intensity of therapy and eligibility for clinical trials.</p><p><strong>Objective: </strong>To stay up to date with advances in relevant biomarkers for diagnosis, prognosis, and therapy. The Cancer Biomarkers Conference (CBC) has been developed as a highly focused meeting to provide key biomarker updates across medical fields with the inclusion of industry partners, to reach a broader audience, and cross-pollinate emerging areas for biomarker application and future discovery. The objective of this article is to raise awareness of the potential utility of such meetings for improving patient care and facilitating collaboration.</p><p><strong>Data sources: </strong>Recently released guidelines related to B-cell lymphoma diagnosis from the World Health Organization and International Consensus Classification and associated manuscripts are reviewed. Material presented at the CBC conference is summarized.</p><p><strong>Conclusions: </strong>This article covers highlights of the updates presented on B-cell lymphoma biomarkers at the most recent Cancer Biomarkers Conference in Flowood, Mississippi, in September 2022.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41144797","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}
引用次数: 0
Molecular and Immunohistochemical Testing in Mesothelioma and Other Mesothelial Lesions. 间皮瘤和其他间皮病变的分子和免疫组化检测。
Archives of pathology & laboratory medicine Pub Date : 2024-05-01 DOI: 10.5858/arpa.2023-0213-RA
Yin P Hung, Lucian R Chirieac
{"title":"Molecular and Immunohistochemical Testing in Mesothelioma and Other Mesothelial Lesions.","authors":"Yin P Hung, Lucian R Chirieac","doi":"10.5858/arpa.2023-0213-RA","DOIUrl":"10.5858/arpa.2023-0213-RA","url":null,"abstract":"<p><strong>Context.—: </strong>Molecular testing has increasingly been utilized in the evaluation of mesothelioma. Diffuse mesothelioma comprises multiple distinct genetic subgroups. While most diffuse mesotheliomas lack oncogenic kinase mutations and instead harbor alterations involving tumor suppressors and chromatin regulators, a minor subset of tumors is characterized by uncommon alterations such as germline mutations, genomic near-haploidization, ALK rearrangement, ATF1 rearrangement, or EWSR1::YY1 fusion.</p><p><strong>Objective.—: </strong>To provide updates on the salient molecular features of diffuse mesothelioma, mesothelioma in situ, and other mesothelial lesions: well-differentiated papillary mesothelial tumor, adenomatoid tumor, peritoneal inclusion cyst, and others. We consider the diagnostic, prognostic, and predictive utility of molecular testing in mesothelial lesions.</p><p><strong>Data sources.—: </strong>We performed a literature review of recently described genetic features, molecular approaches, and immunohistochemical tools, including BAP1, MTAP, and merlin in mesothelioma and other mesothelial lesions.</p><p><strong>Conclusions.—: </strong>Our evolving understanding of the molecular diversity of diffuse mesothelioma and other mesothelial lesions has led to considerable changes in pathology diagnostic practice, including the application of immunohistochemical markers such as BAP1, MTAP, and merlin (NF2), which are surrogates of mutation status. In young patients and/or those without significant asbestos exposure, unusual mesothelioma genetics such as germline mutations, ALK rearrangement, and ATF1 rearrangement should be considered.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139405568","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}
引用次数: 0
Remote Pathology Practice: The Time for Remote Diagnostic Pathology in This Digital Era is Now. 远程病理学实践 :数字化时代的远程病理诊断时不我待。
Archives of pathology & laboratory medicine Pub Date : 2024-05-01 DOI: 10.5858/arpa.2023-0385-ED
Casey P Schukow, Timothy Craig Allen
{"title":"Remote Pathology Practice: The Time for Remote Diagnostic Pathology in This Digital Era is Now.","authors":"Casey P Schukow, Timothy Craig Allen","doi":"10.5858/arpa.2023-0385-ED","DOIUrl":"10.5858/arpa.2023-0385-ED","url":null,"abstract":"","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138886740","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}
引用次数: 0
Notable Histologic Findings in a "Normal" Cohort: The National Institutes of Health Genotype-Tissue Expression (GTEx) Project 正常 "队列中值得注意的组织学发现。
Archives of pathology & laboratory medicine Pub Date : 2024-04-27 DOI: 10.5858/arpa.2023-0468-OA
Philip A Branton, Leslie Sobin, Mary Barcus, Kelly B Engel, Sarah R Greytak, Ping Guan, Jim Vaught, Helen M Moore
{"title":"Notable Histologic Findings in a \"Normal\" Cohort: The National Institutes of Health Genotype-Tissue Expression (GTEx) Project","authors":"Philip A Branton, Leslie Sobin, Mary Barcus, Kelly B Engel, Sarah R Greytak, Ping Guan, Jim Vaught, Helen M Moore","doi":"10.5858/arpa.2023-0468-OA","DOIUrl":"10.5858/arpa.2023-0468-OA","url":null,"abstract":"<p><strong>Context.—: </strong>The National Institutes of Health (NIH) Genotype-Tissue Expression (GTEx) project was designed to evaluate how genetic variation and epigenetic effects influence gene expression in normal tissue.</p><p><strong>Objective.—: </strong>To ensure that the grossly normal-appearing tissues collected were free from disease, each specimen underwent histologic evaluation.</p><p><strong>Design.—: </strong>In total, nearly 30 000 tissue aliquots collected from almost 1000 postmortem donors underwent histologic review by project pathologists, and detailed observations of any abnormalities or lesions present were recorded.</p><p><strong>Results.—: </strong>Despite sampling of normal-appearing tissue, in-depth review revealed incidental findings among GTEx samples that included neoplastic, autoimmune, and genetic conditions; the incidence of some of these conditions among GTEx donors differed from those previously reported for other populations. A number of age-related abnormalities observed during histologic review of tissue specimens are also described.</p><p><strong>Conclusions.—: </strong>Histologic findings from the GTEx project may serve to improve populational awareness of several conditions and present a unique opportunity for others to explore age- and gender-influenced conditions. Resources from the study, including histologic image and sequencing data, are publicly available for research.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140856815","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}
引用次数: 0
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