Acta Cytologica最新文献

Background: Endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB) using larger, next-generation cutting needles is a minimally invasive method for the diagnosis of pancreatic lesions. Rapid on-site evaluation (ROSE) is employed to render preliminary diagnoses, ensure specimen adequacy, and triage tissue for ancillary testing and can be performed on FNB cores. Given the difficulty of pancreatic cytology and the novelty of ROSE with these larger cutting needles, this study was performed to evaluate discrepancies between ROSE and the final diagnosis to uncover challenging diagnostic areas.

Methods: Final reports from pancreatic FNBs with ROSE between 1/2019-12/2021 were reviewed, and the ROSE and final diagnoses were compared. Cases were categorized into non-diagnostic (ND), negative for malignancy (NEG), atypical, neoplastic (NEO), suspicious for malignancy (SFM), and positive for malignant cells (POS). A major discrepancy was defined as a ND/NEG versus NEO/SFM/POS interpretation.

Results: 454 cases were identified. The ROSE versus final diagnosis breakdown was as follows: ND/NEG 18.7% versus 16.3%, atypical 6.4% versus 5.1%, NEO 10.8% versus 11.9%, SFM 4.4% versus 2.0%, and POS 59.7% versus 64.8%. The concordance rate was high at 96.9% with only 14 (3.1%) major discrepancies which included 6 due to interpretive error, 3 to sampling error, and 5 due to a combination of both. While the majority of lesions in the cohort were conventional ductal adenocarcinomas (76%), there was an over-representation of non-ductal tumors constituting major discrepancies (6/14; 42.9%).

Conclusions: ROSE using pancreatic EUS-FNB is possible and provides an accurate interpretation in most cases. Diagnostic challenges remain with non-ductal tumors.

Background The thyroid gland is a treasure trove of pathology ranging from the benign to the overtly malignant. Both neoplastic and non-neoplastic thyroid lesions can exhibit oncocytic change. Here we present an overview of cytologic, and histopathologic findings encountered in these oncocytic neoplasms with a focus on the molecular aspects that drive their tumorigenesis. Summary Oncocytic change is unique to a subset of thyroid lesions ranging from non-neoplastic nodular hyperplasia to high-grade malignancy. It can also be encountered in non-follicular derived neoplasms as well as in the adjacent parathyroid glands. At the genetic level, these lesions demonstrate a different genetic signature from classic follicular-derived lesions, often involving alterations of mitochondrial genes.

Introduction: Cervical cancer screening using Pap smears is affected by false-negative results. Liquid-based cytology (LBC) offers the technical advantage of preparing cell blocks from residual fluid to conduct ancillary tests on them. The p16INK4a gene product has been shown to be strongly overexpressed in dysplastic cervical epithelia and serves as surrogate marker for high-risk human papilloma virus (HPV) infection.

Material and methods: Microwave-processed cell blocks were prepared from residual material in vials after ThinPrep slide preparation, stained with hematoxylin and eosin (H&E) and p16INK4a. Nuclear staining with or without cytoplasmic staining on p16 slides was considered positive. Four parameters were evaluated: percentage of positive cells, intensity of staining, number of positively stained cells in close contact and full-thickness epithelial staining. We compared sensitivity and specificity of ThinPrep smears and p16 stained cell blocks in diagnosing invasive malignancy.

Results: The intensity and percentage of p16 positive cells was found to increase with increasing grade of cervical abnormality. We found good concordance between ThinPrep smear and cell block diagnoses in cases which were negative for intraepithelial lesion or malignancy (NILM) (97.6%), in low-grade squamous intraepithelial lesions (LSIL) (90%), high-grade squamous intraepithelial lesions (HSIL) (100%) and squamous cell carcinomas (SCC) (93.5%). Of 16 discrepant cases, nine were reported unsatisfactory on ThinPrep smears due to abundant necrosis or scant cellularity. All these turned out to have malignancies on follow up and review of histology. The sensitivity of ThinPrep and p16 stained cell blocks in diagnosing invasive malignancy were 70.2% and 85.1% respectively, while the specificity of both were 100%.

Conclusions: Cell blocks prepared from residual fluid in LBC vials have the potential to reduce the rates of inadequacy and are feasible in routine practice. While the cost of p16 on cell blocks may be too prohibitive for use in routine cervical screening programmes, if used judiciously in combination with clinical suspicion, a lot of valuable material which is usually discarded in the residual LBC vials can prove to be crucial in arriving at the correct diagnosis.

Introduction: Oral cancer, especially oral squamous cell carcinoma (OSCC), is a global health challenge due to factors such as late detection and high mortality rates. Early detection is essential through monitoring by healthcare professionals. Cytopathology is a cellular analysis model for evaluating cellular damage preceding the clinical appearance of OSCC, but it requires training and has diagnostic limitations, due to its subjective aspect. Artificial Intelligence (AI) shows potential to enhance the interpretation of cytological images, reducing working time and subjectivity.

Objective: To compare the effectiveness of human analyses versus AI system assessment of oral cell smears stained by the Papanicolaou technique.

Methodology: The study comprised 57 patients in Porto Alegre - RS divided into four groups: Control Group (CG), Exposed Group (EG), Oral Potentially Malignant Disorders Group (OPMDG), and OSCC Group (OSCCG). Cytopathological smears were collected from the border of the tongue of CG and EG and from the lesional area in OSCCG and OPMDG. The Papanicolaou technique was performed according to standard protocol, with morphological analysis. Images were analyzed by two human examiners as well as by an AI system (Papanicolaou Slide Image Examiner - PSIE).

Results: Concordance between human and PSIE was good. The proportion of cytological findings between human and PSIE was similar and the analysis time of PSIE was 16.6 times shorter than that of human researchers.

Conclusion: The use of AI for OSCC screening is promising and demonstrated to be a suitable tool for routine use mainly with the advance of IA-human concordance analysis and serving as a tool to accelerate the analytical process.

Introduction: Around 85% of non-small cell lung cancers (NSCLCs) are diagnosed at an advanced stage (IIIB to IV), where therapeutic options depend on molecular analysis. However, diagnostic material for molecular testing is often represented by cytological samples which are generally scarce and span a wide range of preparation types. Thus, the primary objective is to efficiently manage materials for molecular profiling. This study aims to evaluate the suitability of different cytological samples to assess morphological and molecular characteristics of advanced NSCLC.

Methods: Sixty-seven cytological samples obtained from patients with advanced NSCLC were utilized. The series encompassed different procedure types (fine-needle aspiration cytology, transbronchial needle aspiration, effusions) processed by cell blocks in 54% (n=36), direct smears in 33% (n=22), and Liquid Based Cytology (LBC) in 13% (n=9). Cytological diagnoses were routinely performed and molecular analysis were conducted using NGS and RT-PCR methods.

Results: Adequate quantity and quality of nucleic acids were obtained from all the samples, allowing molecular profiling. Combined Next Generation Sequencing (NGS) and Real Time-Polymerase Chain Reaction (RT-PCR) analysis showed wild-type profiles in 62.7% (n=42) and mutated profiles in 37.3% (n=25) of the samples. Kirsten Rat Sarcoma Virus (KRAS) mutations were identified in 19.5% (n=13) of samples, Epidermal Growth Factor Receptor (EGFR) mutations in 10.4% (n=7) and v-raf murine sarcoma viral oncogene homolog B (BRAF) mutations in 2.9% (n=2). Identified chromosomal alterations were v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (ERBB2) duplication in 2,9% (n=2).

Conclusions: The cytological sample types examined in this study proved to be suitable for molecular testing, in addition to conventional morphologic diagnosis, showing versatility and adaptability to different clinical contexts. Molecular testing on cytological samples is accurate and fast, representing a valid tool for molecular profiling of advanced NSCLC.

Background: Cervical cancer is still a significant global health issue, espacially in low- and middle-income countries. Human papillomavirus (HPV) infection is known to be the primary etiological factor in the development of cervical cancer. The identification of high-risk HPV infections in cervical screening is becoming crucial for early detection and management of cervical pre-neoplasia. However, HPV testing requires triage markers since HR HPV infections are widespread in the target population, of which only a small fraction requires detailed clinical work-up by colposcopy.

Summary: p16INK4a is a tumor suppressor protein that has emerged as a promising surrogate marker for HPV infection. In combination with a proliferation marker Ki67 in one diagnostic test kit referred to as CINtecPlus®- or dual stain (DS) it revealed excellent sensitivity and specificity profiles to detect clinically relevant CIN2+ lesions among HPV-infected women in large screening cohorts.

Key message: This review examines the role of the cytology CINtecPlus®-test (Dual Stain (DS)-test) as a triage marker to identify patients with CIN2+ lesions among HPV + tested women and summarizes the most recent recommendations for its clinical use.

Introduction: Lung cancer remains a major health challenge, and accurate diagnosis is crucial for effective treatment. Rapid on-site evaluation (ROSE) has emerged as a valuable tool in lung cancer diagnosis. This study aimed to assess the performance of ROSE in the intraoperative diagnosis of lung cancer and its correlation with the histological findings of frozen sections.

Methods: A retrospective review was conducted on 414 cases of intraoperative ROSE performed during lung surgeries between 2017 and 2022. Cytological findings were classified according to the World Health Organization Reporting System for Lung Cytopathology and compared with the subsequent histological diagnoses.

Results: ROSE demonstrated a high diagnostic accuracy of 92.2%. The risk of malignancy varied across diagnostic categories, highlighting the value of ROSE in risk stratification. Only 12% of cases with a ROSE diagnosis of malignancy or suspicion of malignancy were discordant with the final histological diagnosis and only as to the specific tumor type.

Conclusions: ROSE is a reliable technique for lung cancer diagnosis, not only during EBUS- or CT-guided FNA but also in the setting of lung surgery, offering high accuracy and risk stratification. It contributes to improved patient management by optimizing procedures, reducing complications, and enhancing specimen quality for further analyses. ROSE is a valuable asset in the modern era of personalized medicine, facilitating tailored treatment approaches.

Introduction: This study critically evaluates adherence to Pap test screening practices in cytology-based cervical cancer screening in the state of Amazonas over a 10-year period.

Materials and methods: A retrospective analysis was conducted of the results of cytological screening examinations (Pap test) in Amazonas State from 2013 to 2023. For this purpose, Brazilian public databases Cervical Cancer Information System (SISCOLO) and Cancer Information System (SISCAN) (from the Department of Information and IT of the Unified Health System [DATASUS]) were consulted.

Results: There was a decrease in the number of Pap tests performed during the period from 2019 to 2021, likely related to the COVID-19 pandemic. This was followed by a subsequent increase in the post-pandemic period. Notably, in municipalities with fewer than 10,000 annual Pap examinations there was a decrease in the average number of tests when comparing the years 2016-2018 to 2013-2015, and an even greater decrease during the pandemic.

Conclusions: There is considerable variation in utilization of the cytological Pap test across different municipalities. This lack of uniformity throughout the state likely compromises the capacity to detect early stage cervical intraepithelial lesions.

Introduction: Thyroid cytopathology, particularly in cases of atypia of undetermined significance/follicular lesions of undetermined significance (AUS/FLUS), suffers from suboptimal sensitivity and specificity challenges. Recent advancements in digital pathology and artificial intelligence (AI) hold promise for enhancing diagnostic accuracy. This systematic review included studies that focused on diagnostic accuracy in AUS/FLUS cases using AI, whole slide imaging (WSI), or both.

Methods: Of the 176 studies from 2000 to 2023, 13 met the inclusion criteria. The datasets range from 145 to 964 WSIs, with an overall number of 494 AUS cases ranging from eight to 254. Five studies used convolutional neural networks (CNNs), and two used artificial neural networks (ANNs). The preparation methods included Romanowsky-stained smears either alone or combined with Papanicolaou-stained or H&E and liquid-based cytology (ThinPrep). The scanner models that were used for scanning the slides varied, including Leica/Aperio, Alyuda Neurointelligence Cupertino, and PANNORAMIC™ Desk Scanner. Classifiers used include Feedforward Neural Networks (FFNNs), Two-Layer Feedforward Neural Networks (2L-FFNNs), Classifier Machine Learning Algorithm (MLA), Visual Geometry Group 11 (VGG11), Gradient Boosting Trees (GBT), Extra Trees Classifier (ETC), YOLOv4, EfficientNetV2-L, Back-Propagation Multi-Layer Perceptron (BP MLP), and MobileNetV2.

Results: The available studies have shown promising results in differentiating between thyroid lesions, including AUS/FLUS. AI can be especially effective in removing sources of errors such as subjective assessment, variation in staining, and algorithms. CNN has been successful in processing WSI data and identifying diagnostic features with minimal human supervision. ANNs excelled in integrating structured clinical data with image-derived features, particularly when paired with WSI, enhancing diagnostic accuracy for indeterminate thyroid lesions.

Conclusion: A combined approach using both CNN and ANN can take advantage of their strengths. While AI and WSI integration shows promise in improving diagnostic accuracy and reducing uncertainty in indeterminate thyroid cytology, challenges such as the lack of standardization need to be addressed.