Chiara Pighi PhD, Giulio Settanni MSc, Marta Angelini MSc, Laura Bortesi MD, PhD, Valeria Viassolo MD, Marcello Ceccaroni MD, Francesco Bruni MD, Stefania Gori MD, Gian Franco Zannoni MD, Anna Pesci MD, PhD
{"title":"Exploring alternatives to tumor tissue for BRCA1/2 next-generation sequencing testing in high-grade serous ovarian cancer: A 34-case series of malignant ascites","authors":"Chiara Pighi PhD, Giulio Settanni MSc, Marta Angelini MSc, Laura Bortesi MD, PhD, Valeria Viassolo MD, Marcello Ceccaroni MD, Francesco Bruni MD, Stefania Gori MD, Gian Franco Zannoni MD, Anna Pesci MD, PhD","doi":"10.1002/cncy.70102","DOIUrl":"10.1002/cncy.70102","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>BRCA1/2</i> testing is currently recommended at diagnosis for high-grade serous ovarian carcinoma (HGSOC) because of its impact on patients' survival when treated with poly(adenosine diphosphate ribose) polymerase inhibitors. Standard clinical practice involves analyzing <i>BRCA1</i>/<i>2</i> genes in formalin-fixed, paraffin-embedded (FFPE) histological specimens. However, because neoplastic ascites is a common clinical presentation in HGSOC and provides a good source of neoplastic cells via a less invasive procedure, it is worthwhile to explore the feasibility of <i>BRCA1/2</i> testing on cytological specimens obtained from malignant ascites.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p><i>BRCA1/2</i> status was analyzed in 34 ascites-derived cytological samples via an amplicon-based next-generation sequencing (NGS) approach, and the results were compared with those from FFPE tissues previously tested in routine clinical practice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A perfect match was observed between <i>BRCA1</i>/<i>2</i> testing results from neoplastic ascites and surgical samples (100% concordance) for all pathogenic variants, including both germline and somatic mutations. This is the first study to report such high concordance within the largest collection of somatic variants analyzed to date. Additionally, molecular NGS testing was demonstrated to be feasible even in malignant ascites with a low tumor fraction and with archived material.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study shows that ascites can be a suitable specimen for <i>BRCA1/2</i> NGS testing, and provides a minimally invasive option for disease diagnosis and the early detection of key molecular biomarkers essential for the clinical management of women with HGSOC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"134 5","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13121880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763141","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":"Quality assurance for thyroid FNAs: A more useful way to compare performance","authors":"Andrew A. Renshaw MD","doi":"10.1002/cncy.70099","DOIUrl":"10.1002/cncy.70099","url":null,"abstract":"","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"134 5","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763194","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}
Tarik M. Elsheikh MD, Erika E. Doxtader MD, Rema Chaari MD
{"title":"What quality‑assurance metrics best assess the diagnostic performance of pathologists in thyroid fine‑needle aspiration cytology?","authors":"Tarik M. Elsheikh MD, Erika E. Doxtader MD, Rema Chaari MD","doi":"10.1002/cncy.70101","DOIUrl":"10.1002/cncy.70101","url":null,"abstract":"","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"134 5","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763180","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":"Beyond the adult standard: Tailoring the WHO Reporting System for Lymph Node Cytopathology to pediatric diagnostics and management","authors":"Helena Barroca MD, Fernando Schmitt MD, PhD, FIAC","doi":"10.1002/cncy.70095","DOIUrl":"10.1002/cncy.70095","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The World Health Organization (WHO) Reporting System for Lymph Node, Spleen, and Thymus Cytopathology (WHO System) offers a standardized five-category framework to enhance diagnostic consistency. Although globally applicable, its risk of malignancy (ROM) and management protocols are largely generalized. This study explores the system’s specific applicability and clinical utility within the pediatric population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study presents a pediatric diagnostic pathway centered on fine-needle aspiration biopsy, implemented according to the protocols established by the WHO System. The methodology emphasizes the integration of a multidisciplinary approach. The five WHO categories are evaluated through the lens of pediatric-specific differential diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In pediatric practice, the Benign category often includes exuberant immunoblastic proliferation (e.g., Epstein-Barr virus) that mimics malignancy. Atypical and Suspicious categories represent a critical “gray zone” where the ROM is significantly influenced by the rarity of malignancy. Findings suggest that for Suspicious and Malignant categories, the use of rapid on-site evaluation (ROSE) under optimal conditions allows for an immediate transition to ancillary testing and clinical staging.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Pediatric application requires shifted interpretive thresholds. Monotonous small cell populations, which might suggest low-grade B-cell lymphoma in adults, typically represent reactive processes or aggressive small round blue cell tumors in children. The interventional pathologist is vital in reducing “non-diagnostic” rates. Furthermore, a “malignant” or “suspicious” diagnosis should trigger immediate multidisciplinary intervention to prevent complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The WHO System is a robust tool for pediatric evaluation when contextualized within pediatric-specific biological parameters. Integrating ROSE and interventional pathology minimizes invasive procedures and accelerates time-to-treatment for life-threatening malignancies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"134 5","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763078","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}
Jose Manuel Gutierrez Amezcua MD, Maria E. Arcila MD, Dianna L. Ng MD, Rusmir Feratovic MHA CT(ASCP), Khawaja Hasan Bilal MD, Jean Marc Cohen MD, Xiao-Jun Wei MD, Brie Kezlarian-Sachs MD, Carlie S. Sigel MD, Narasimhan Agaram MBBS, Khedoudja Nafa PharmD, PhD, Paulo Salazar, Oscar Lin MD, PhD, David Kim MD
{"title":"Ultrarapid BRAF mutation detection on supernatant cell-free DNA obtained by FNA: An accurate and expedient method for BRAF assessment in aggressive thyroid carcinomas","authors":"Jose Manuel Gutierrez Amezcua MD, Maria E. Arcila MD, Dianna L. Ng MD, Rusmir Feratovic MHA CT(ASCP), Khawaja Hasan Bilal MD, Jean Marc Cohen MD, Xiao-Jun Wei MD, Brie Kezlarian-Sachs MD, Carlie S. Sigel MD, Narasimhan Agaram MBBS, Khedoudja Nafa PharmD, PhD, Paulo Salazar, Oscar Lin MD, PhD, David Kim MD","doi":"10.1002/cncy.70098","DOIUrl":"10.1002/cncy.70098","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>For patients with aggressive thyroid cancer, including anaplastic thyroid carcinoma (ATC) and high-grade follicular cell-derived non-anaplastic thyroid carcinoma, rapid <i>BRAF</i> p.V600E testing is critical as targeted therapy with BRAF/MEK inhibitors significantly improves outcomes. This study assesses the performance and turnaround time (TAT) of the Biocartis Idylla platform for ultrarapid <i>BRAF</i> p.V600E detection across various preparations, emphasizing the use of residual CytoLyt material (supernatant cell-free DNA [ScfDNA]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>All histologically confirmed cases of aggressive thyroid carcinomas received for Idylla testing were identified. Samples were prepared either as ScfDNA, formalin-fixed paraffin-embedded (FFPE) cell block (CB), Diff-Quik smear, or surgical FFPE samples. <i>BRAF</i> p.V600E testing was performed on the Idylla platform, and results were compared to a clinically validated reference method of either next-generation sequencing (NGS) or digital-droplet polymerase chain reaction (ddPCR). TAT for Idylla testing on ScfDNA samples was compared to FFPE preparations and to BRAF V600E immunocytochemistry (ICC).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fifty-seven samples (including 51 ATC) were tested by Idylla. The overall success rate for Idylla was 91%, with ScfDNA at 90% and surgical FFPE specimens at 100%. Of 42 samples that had NGS/ddPCR testing, concordance with the reference method showed 100% agreement (excluding failures) across all sample types. TAT for Idylla on ScfDNA samples was significantly shorter than ICC (median 2.86 vs. 46.7 hrs, <i>p</i> < .05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The Idylla <i>BRAF</i> assay delivers ultrarapid results that are both reliable and accurate with high success rates, particularly on ScfDNA samples. ScfDNA samples also have the fastest TAT because no histologic processing or pre-extraction are required for testing.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"134 5","pages":""},"PeriodicalIF":3.2,"publicationDate":"2026-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13102139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147763177","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}