Laura Castells Vilella, Paula Sánchez-Pintos, José Félix Muñiz Llama, Matías Gámez Martínez, María Luz Couce, Jordi Antón
{"title":"Age- and Sex-Dynamic Fluctuations and Reference Intervals for Alkaline Phosphatase Among the Spanish Population.","authors":"Laura Castells Vilella, Paula Sánchez-Pintos, José Félix Muñiz Llama, Matías Gámez Martínez, María Luz Couce, Jordi Antón","doi":"10.5858/arpa.2023-0335-OA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0335-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Interpretation of alkaline phosphatase (ALP) activity is essential for the diagnosis of certain diseases. ALP changes during life and may vary between different populations.</p><p><strong>Objective.—: </strong>To establish reference intervals (RIs) and percentile charts for ALP activity in the Spanish population through a multicentric observational study and to compare the RIs to those defined in other countries.</p><p><strong>Design.—: </strong>A total of 662 350 ALP measurements from individuals ages 0 to 99 years from 9 Spanish tertiary care centers collected between 2020 and 2022 were analyzed. This study is the largest published in the literature to date.</p><p><strong>Results.—: </strong>Continuous percentile charts for ALP according to sex and age were established which can be used as RIs. Higher levels are reached during the first weeks of life. In puberty, a differential evolution is observed in both sexes, reaching a peak at 10 to 13 years of age in boys and remaining stable in girls at this age. Significant differences were also observed in adults, higher in men between ages 20 and 49 years and between ages 50 and 79 years in women, as reported in some countries.</p><p><strong>Conclusions.—: </strong>ALP activity follows an age- and sex-dependent fluctuation with geographic differences. It is important to have appropriate reference values for each population in order to allow for a correct diagnostic interpretation and early diagnosis of diseases related to ALP abnormalities.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155940","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":"Frequent Immunohistochemical Expression of Transcriptional Repressor GATA Binding 1 in Salivary Gland Neoplasms: A Sensitive but Nonspecific Marker.","authors":"Sanjay Sriram, Aanchal Kakkar, Chetna Sarma, Ria Mahendru, Rajeev Kumar, Kavneet Kaur, Alok Thakar, Svs Deo","doi":"10.5858/arpa.2023-0444-OA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0444-OA","url":null,"abstract":"<p><strong>Context.—: </strong>Salivary gland (SG) neoplasms (SGNs) display considerable immunophenotypic diversity. A significant proportion of SG carcinomas develop metastases with increased diagnostic difficulty at metastatic sites. Transcriptional repressor GATA binding 1 (TRPS1), a novel immunohistochemical marker for breast cancer, has been found to stain certain SGNs.</p><p><strong>Objective.—: </strong>To investigate TRPS1 and SRY-related HMG-box 10 (SOX10) immunoexpression in various SGNs and non-SG carcinomas, head and neck paragangliomas, and head and neck mucosal melanomas.</p><p><strong>Design.—: </strong>TRPS1 immunoreactivity score (IRS) was determined as negative or low, intermediate, or high positive; SOX10 was reported as negative or positive.</p><p><strong>Results.—: </strong>One hundred forty-eight SGNs, 5 breast carcinomas, 105 nonbreast-non-SG carcinomas, including 33 head and neck squamous cell carcinomas (HNSCCs), 6 head and neck paragangliomas, and 6 head and neck mucosal melanomas, were assessed for TRPS1. All 23 benign SGNs showed TRPS1 positivity, with the majority having high-positive IRS (17 of 23 cases; 74%). Among 125 SG carcinomas, 115 of 125 (92%) were TRPS1 positive, with high-positive IRS in 94 of 125 (75%), intermediate positive in 15 of 125 (12%), and low positive in 6 of 125 (5%). Among nonbreast-non-SG carcinomas, HNSCC, lung, thyroid, kidney, and ovarian carcinomas showed frequent TRPS1 staining. Nearly half of HNSCCs had high (11 of 18; 33%) or intermediate (4 of 18; 12%) positive IRS. Mean IRS in SG carcinomas was significantly higher than that in nonbreast-non-SG carcinomas (P < .001). None of the TRPS1-positive nonbreast-non-SG carcinomas expressed SOX10.</p><p><strong>Conclusions.—: </strong>TRPS1 is positive in most benign and malignant SGNs. Its expression in several nonbreast-non-SG carcinomas indicates that it lacks specificity for breast and SG carcinomas, even if considering only high-positive IRS. Addition of SOX10 can increase discriminatory utility of TRPS1.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155942","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}
Leslie Sobin, Mary Barcus, Philip A Branton, Kelly B Engel, Judy Keen, David Tabor, Kristin G Ardlie, Sarah R Greytak, Nancy Roche, Brian Luke, Jim Vaught, Ping Guan, Helen M Moore
{"title":"Histologic and Quality Assessment of Genotype-Tissue Expression (GTEx) Research Samples: A Large Postmortem Tissue Collection.","authors":"Leslie Sobin, Mary Barcus, Philip A Branton, Kelly B Engel, Judy Keen, David Tabor, Kristin G Ardlie, Sarah R Greytak, Nancy Roche, Brian Luke, Jim Vaught, Ping Guan, Helen M Moore","doi":"10.5858/arpa.2023-0467-OA","DOIUrl":"https://doi.org/10.5858/arpa.2023-0467-OA","url":null,"abstract":"<p><strong>Context.—: </strong>The National Institutes of Health Genotype-Tissue Expression (GTEx) project was developed to elucidate how genetic variation influences gene expression in multiple normal tissues procured from postmortem donors.</p><p><strong>Objective.—: </strong>To provide critical insight into a biospecimen's suitability for subsequent analysis, each biospecimen underwent quality assessment measures that included evaluation for underlying disease and potential effects introduced by preanalytic factors.</p><p><strong>Design.—: </strong>Electronic images of each tissue collected from nearly 1000 postmortem donors were evaluated by board-certified pathologists for the extent of autolysis, tissue purity, and the type and abundance of any extraneous tissue. Tissue-specific differences in the severity of autolysis and RNA integrity were evaluated, as were potential relationships between these markers and the duration of postmortem interval and rapidity of death.</p><p><strong>Results.—: </strong>Tissue-specific challenges in the procurement and preservation of the nearly 30 000 tissue specimens collected during the GTEx project are summarized. Differences in the degree of autolysis and RNA integrity number were observed among the 40 tissue types evaluated, and tissue-specific susceptibilities to the duration of postmortem interval and rapidity of death were observed.</p><p><strong>Conclusions.—: </strong>Ninety-five percent of tissues were of sufficient quality to support RNA sequencing analysis. Biospecimens, annotated whole slide images, de-identified clinical data, and genomic data generated for GTEx represent a high-quality and comprehensive resource for the scientific community that has contributed to its use in approximately 1695 articles. Biospecimens and data collected under the GTEx project are available via the GTEx portal and authorized access to the Database of Genotypes and Phenotypes; procedures and whole slide images are available from the National Cancer Institute.</p>","PeriodicalId":93883,"journal":{"name":"Archives of pathology & laboratory medicine","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155945","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}
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}
{"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}
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}
{"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}
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}
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}
{"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}