Fumarate hydratase-deficient renal cell carcinoma (FHRCC) is an aggressive carcinoma that typically presents as advanced-stage disease. Prompt recognition of FHRCC is critical for appropriate clinical care and genetic counseling for patients and family members. However, diagnosing FHRCC from cytology specimens is challenging, with limited characterization and no reports describing prospectively identified cases.
Cytology fine-needle aspiration (FNA) cases diagnosed as FHRCC were reviewed, including two prospectively identified cases.
Five cases of FHRCC diagnosed by FNA cytology were identified in five unique patients. The cytologic samples included four FNAs with core biopsy and one FNA with cell block. Biopsy sites included kidney (n = 1), chest wall (n = 1), omentum (n = 1), lung (n = 1), and cervical lymph node (n = 1). All cases demonstrated cytologically malignant epithelial cells characterized by enlarged, round nuclei with variable pleomorphism, irregular nuclear membranes, prominent nucleoli, and moderate-to-abundant amounts of cytoplasm. Perinucleolar halos characterized by chromatin margination and pallor around macronucleoli were seen in all cases. Cytologic features not previously described included cytoplasmic macrovacuoles and eosinophilic globules, cytophagocytosis, and floral groups. Papillary architecture was rarely present on aspirate smears. Cell block sections showed variable architectural patterns. By immunohistochemistry, FH was definitively lost in three of five cases (60%), and 2-succinocysteine was positive in all 5 cases (100%).
Cytologic specimens of FHRCC demonstrate salient cytomorphologic features that can support their initial diagnosis. Confirmatory immunohistochemical testing using a dual panel of fumarate hydratase and 2-succinocysteine is recommended for the diagnosis in limited biopsy samples.
This study aimed to assess the feasibility of implementing the Idylla system, an ultra-rapid, cartridge-based assay, as an extension of rapid on-site evaluation (ROSE) in cytology. The authors conducted a pilot validation study on specimens from non–small cell lung carcinoma, thyroid carcinoma, and melanoma, evaluating four assays designed to detect alterations in KRAS, EGFR, BRAF, gene fusions, and expression imbalances in ALK, ROS1, RET, NTRK1/2/3, and MET exon 14 skipping transcripts. They investigated the feasibility of providing accurate biomarker molecular testing results in a cytopathology laboratory within hours of specimen collection.
The authors evaluated the performance characteristics and turn-around-time of the Idylla system by testing a total of 144 cartridge assays across various specimen types, including fine-needle aspirate smears, formalin-fixed paraffin-embedded (FFPE) cell blocks, small tissue biopsy FFPE blocks, and control cell line FFPE scrolls.
The average time from specimen input to results output was 2–3 hours. Accuracy across the four cartridge types was: KRAS assay: 100%, EGFR assay: 94%, BRAF assay: 100%, and GeneFusion assay: 94%. Analytical sensitivity ranged from 1% to 5% variant allele frequency for all assays. Inter-assay precision and analytical specificity were both 100%.
Using the Idylla system, actionable genetic alterations can be reliably detected within 2–3 hours from cytology and small biopsy samples with minimal input requirements. The findings of this study demonstrate the feasibility of incorporating same-day molecular testing as part of ROSE procedures in the cytopathology laboratory, ultimately shortening the time from procedure to personalized treatment for cancer patients.
The importance of large, national/international organizations like the College of American Pathologists (CAP) and the US and Canadian Academy of Pathology for resident and fellow training cannot be overstated. However, many opportunities also exist at the locoregional level, such as pathology state societies, which vary widely in size, structure, and level of engagement but can provide valuable resources and networking opportunities for trainees. What are some specific resources, initiatives, and mechanisms that might be beneficial for local, state, and regional pathology society groups to enhance trainee experiences? The Florida Society of Pathologists (FSP) enjoys a long history of representing the interests of Florida pathologists and is an impressive example of a large state society. Key areas addressed for residents and fellows who participate in the FSP include engagement, networking, education, and advocacy. Here, we summarize several programs and initiatives that the FSP has pursued to cater to the needs of Florida's resident/fellow trainees, and we hope that this information will benefit other locoregional and state societies.
Telecytology-assisted rapid on-site evaluation (ROSE) offers a cost-effective method to enhance minimally invasive biopsies like fine needle aspiration and core biopsies with touch preparation. By reducing nondiagnostic sampling and the need for repeat procedures, ROSE via telecytology facilitates prompt triage for ancillary tests, improving patient management. This study examines cases initially deemed adequate for diagnosis during telecytology-assisted ROSE but later categorized as nondiagnostic at final evaluation (NDIS).
We performed a retrospective analysis of telecytology-assisted ROSE cases over 7 years at a major cancer center, focusing on fine needle aspiration and touch preparation of core biopsies. Each case was thoroughly reviewed, correlating with clinical data and concurrent core biopsies or subsequent excisions. The study identified leading factors contributing to NDIS.
The average NDIS rate was 0.06% (42/70,612). Misinterpretation of benign or reactive cells as neoplastic was the leading cause (76.2%) of discrepancies between original ROSE and final diagnosis. Kidney biopsies had the highest NDIS rate (0.90%), primarily because of misinterpreting nonneoplastic cells. Thyroid biopsies were linked to quantitative threshold issues (0.10%). NDIS events were most associated with misinterpretation in kidney, pancreas, gastrointestinal tract, and lung biopsies.
In conclusion, the NDIS rate in telecytology-assisted ROSE is low, but quality assurance identified areas for improvement. Recognizing site-specific pitfalls during telecytology-assisted ROSE can enhance diagnostic accuracy and optimize patient care.
Genomic profiling is essential in the management of non–small cell lung cancer. However, this may often be challenging because of limited cytological tissue and extended turnaround time (TAT) for next-generation sequencing (NGS). This study aims to describe a rapid TAT workflow for molecular profiling using fine-needle aspiration (FNA) supernatants.
A fully automated total nucleic acid extraction using the Genexus Integrated System was compared to a manual extraction using FNA supernatants from 50 patients with non–small cell lung cancer. Molecular profiling using the 50 gene Oncomine Precision Assay GX panel was performed and NGS results were compared with those of paired tissue samples.
The FNA samples processed using the automated Genexus purification system (n = 42) and the manual extraction method (n = 8) showed comparable quality control metrics with a median total nucleic acid yield of 1230 ng (18–17720 ng) and 1068 ng (777–1740 ng), respectively. The Genexus purification system reduced the hands-on time from 120 to 30 minutes, enhancing workflow efficiency and decreasing the overall TAT. Of the 50 samples extracted, NGS was performed on 26 samples: seven via manual extraction and 19 using automated extraction. NGS quality control metrics were also comparable between both extraction methods. The overall TAT of the automated NGS workflow from specimen received to test result was 24 hours, providing rapid and reliable molecular results for timely clinical decision-making and improved patient outcomes.
Nuclear protrusions such as micronuclei (MNs) and nuclear budding (NB) are morphological findings of chromosomal instability and indicators of genotoxic damage. They are increased in malignancies, and their high frequency may be used in the diagnosis of cancers and the follow-up of patients. Urothelial carcinomas are common tumors that cause morbidity and mortality, and cytology is a commonly used method for the monitoring and screening of urothelial carcinoma. Although the cytological evaluation of urinary samples is mainly based on nuclear features, there is limited research focusing on MN frequency in urinary cytology. This study aimed to investigate MN and NB counts in various diagnostic categories of urinary samples.
This study included 117 urinary cytology samples categorized according to The Paris System for Reporting of Urinary Cytology. Two observers, blinded to the diagnosis, counted the frequency of MNs and NB per 1000 cells on May-Grünwald-Giemsa– and Papanicolaou-stained slides.
MN and NB counts significantly differed among the groups (p < .001 for each) with a large effect (Ɛ2 = 0.509). MN and NB counts were significantly higher in cases with high-grade urothelial carcinoma (HGUC) than in control cases and in cases that were negative for HGUC or with atypical urothelial cells (p < .001 for each). Any MN count greater than 2.5 per 1000 cells indicated HGUC with a 55% sensitivity and 92.4% specificity.
Because increased MN and NB frequencies are closely associated with an increased risk of malignancy, these could be integrated into The Paris System for Reporting of Urinary Cytology.
Whole-slide imaging (WSI) has been adopted in many fields of pathology for education, quality assurance, and remote diagnostics. In 2021, the College of American Pathologists (CAP) updated guidelines to support pathology laboratories regarding the WSI systems validation process. However, the majority of published literature refers to histopathology rather than cytology. The aim of this study was to compare conventional light microscopy (CLM) and WSI in thin-layer cervical samples evaluation according to CAP guideline.
A sample set of 64 thin-layer cervical specimens from women 25–64 years old who participated in cervical cancer screening programs in Tuscany was distributed among five cytologists at Institute for Cancer Research, Prevention and Clinical Network (Florence, Italy) for CLM analysis. After 2 weeks, the corresponding 64 digitally scanned slides were available at several magnifications for WSI evaluation.
Substantial/near perfect agreement between CLM and WSI evaluation (0.77 ≥ κ ≥1) was observed for the negative for intraepithelial lesion or malignancy (NILM) class with concordance rates from 83.3% to 100%.Variability in concordance was observed among all the cytologists: 50%–85.7% for low-grade squamous intraepithelial lesion (LSIL), 47.1%–100% for high-grade squamous intraepithelial lesion (HSIL), 50%–100% for atypical glandular cells (AGCs) favors adenocarcinoma (ADK) with moderate/near perfect agreement (0.47 ≥ κ ≥1). Concordance and agreement rates were also variable within the “borderline” cytological categories of atypical squamous cells of undetermined significance (ASC-US), atypical squamous cells cannot exclude an HSIL (ASC-H), and AGCs with lower or not computable kappa for some readers. The overall intralaboratory concordance between CLM and WSI was 92.9% with a near perfect agreement (κ = 0.84) for NILM. Substantial agreement (κ ≥0.65) was assessed for LSIL, HSIL/squamous cell carcinoma, AGCs, and ADK categories whereas the agreement was lower (κ ≤0.39) for ASC-US and ASC-H.
This study showed an overall substantial/near perfect agreement between CLM and WSI for all the cytological categories except the “borderline” ASC-US and ASC-H. Further progress in cytology WSI systems are needed before introducing it in routine diagnostics.
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：