In the present paper, we compared the efficiency of six transfer learning models to detect malignant cells in urine cytology. We also applied an ensemble learning with weighted soft voting to assess its importance in the diagnostic accuracy in urine cytology. The voided urine samples of total 104 cases of urothelial cell carcinoma (UCC) and 86 cases with no malignancy (benign) were selected. All the 104 cases of UCC were histopathology proven high grade urothelial cell carcinoma (UCC). Urine with negative cytology reports were followed up clinically. There were 446 images of benign samples and 1369 images from malignant samples on 100 x objective. We applied six transfer learning models (DenseNet121, inception_v3, ResNet50, MobileNetV2, VGG16 and Xception) to detect malignant cells in urine. To compare the performance of different models, dynamic training optimization was done and each model was auto stopped after their maximum performance. In addition, an ensemble learning with soft voting was used including the top three models to enhance the diagnostic accuracy. Xception transfer model showed the highest sensitivity (88.57%), accuracy (86.55%), precision (80.52%) and FI score (84.35%). It was the best performing model. The other two top performing models were InceptionV3 and ResNet50. The area under curve of receiver operating characteristic (AUCROC) was ≤ 90 in all the transfer learning models. The accuracy, sensitivity, specificity, precision, F1-Score and AUCROC of the ensemble transfer learning model were as follows: 92.10%, 95.41%, 85.51%, 91.23%, 93.24% and 0.977 respectively. First time, we evaluated a large number of transfer learning models in urine cytology to detect malignant cells. All the models showed high sensitivity, specificity and accuracy. In addition, the ensemble learning technique with soft voting showed remarkable superior performance than individual top three transfer learning models. The techniques transfer learning and ensemble models have high potential to use in routine screening of urine.
To understand the efficacy of pleural effusion cytology in the diagnosis of malignant mesothelioma, we conducted this retrospective study to review the pleural fluid cytologies of patients diagnosed on concurrent/recent pleural biopsy histology. The clinicopathologic features and common cytomorphology were analysed. Patients who underwent pleural biopsy/stripping and had concurrent/recent pleural fluid cytology between May 2004 and December 2023 at Rush University Medical Center in Chicago were included in our study. All pleural fluid specimens initially collected and preserved in CytoLyt Solution (Hologic, Marlborough, MA) were processed into ThinPrep slides using a standardised laboratory protocol. The cytology diagnoses were made based on a combination of Papanicolaou stained ThinPrep slides, H&E stained cell block and immunohistochemistry on cell block. A total of 26 patients with malignant pleural mesothelioma diagnosed on pleural biopsy/stripping who also had concurrent/recent pleural fluid cytology were identified. About 53.8% (14/26) of pleural fluid cytologies were negative. The most common initial interpretations for the negative findings were reactive mesothelial cells (8/14), mixed inflammatory cells (12/14) and macrophages (2/14). Indeterminate pleural fluid cytologies accounted for 19.2% (5/26) of specimens in our study, with 11.5% being atypical and 7.7% suspicious for malignancy. Malignant pleural fluid cytologies accounted for 26.9% (7/26) of our cases. Surgical pathology specimens included 22 pleural biopsies and 4 pleural strippings, all of which confirmed malignant pleural mesothelioma. The subtypes of malignant pleural mesothelioma included 18 epithelioid, 4 sarcomatoid and 4 biphasic mesothelioma subtypes. The sensitivity of pleural fluid cytology alone in our study was low, at 26.9%. However, when including the 'Atypical cells present' and 'Suspicious for malignancy' categories as abnormal cytology, the sensitivity increased to 46.2%. In conclusion, we report that a diagnosis of mesothelioma can be made from pleural fluid cytology samples in a subset of patients, albeit with a relatively low sensitivity (26.9%).
Fine needle aspiration cytology (FNAC) is widely used in the investigation of lymphadenopathy. FNAC in conjunction with flow cytometry (FCM) immunophenotyping has proven to be a fundamental tool in the diagnosis and subtyping of non-Hodgkin lymphoma (NHL). FCM is objective and offers multiparametric quantitative results and is very useful in assessing the clonality. To evaluate the diagnostic efficiencyof FNAC-FCM immunophenotyping in the definite diagnosis and classification of non-Hodgkin lymphoma. This study retro-prospectively assessed 119 suspected cases of NHL which were diagnosed using FNAC-FCM. The FNAC-FCM diagnoses were correlated with the respective histopathology diagnoses (HPE) and sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated. Of the 119 cases, FNAC/FCM provided a definite diagnosis of NHL in 89 cases and 15 cases were reported as "highly suggestive of NHL" (sNHL). 11 cases were reported as reactive lymphoid hyperplasia and 4 as lymphocytic thyroiditis. HPE was available in 48/89 cases of NHL, 13/15 of sNHL and 6/11 cases of reactive lymphoid hyperplasia (RLH). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were found as follows: 78.6%, 100%, 100% and 31.5% respectively. The combination of FNAC-FCM is effective in the cytological diagnosis and classification of NHL and generates reproducible results the majority of the time. However, interpretation of FCM should be performed by a trained cytopathologist only because the graphs ought to be assessed in the light of morphology.
Historically, gynaecologic cytology, particularly cervical screening through Pap smear tests, has been instrumental in early cancer detection, but not without its challenges. These include variability in interpretation and the labour-intensive nature of manual screening processes. The advent of artificial intelligence (AI) technologies, especially machine learning and deep learning, heralds a new era in cytology, offering enhanced accuracy, consistency, and efficiency. These advancements promise to mitigate traditional limitations by automating routine analyses, aiding early cancer detection, and reducing the workload of laboratory personnel. This review thoroughly examines the current status of commercial AI software in gynaecologic cytology screening. We critically assess the capabilities, performance, and impact of these AI tools in a clinical context. Additionally, the review addresses the integration challenges and potential of AI in clinical practice, including workflow integration, regulatory compliance, and ethical considerations. Through this comprehensive analysis, we aim to provide insights into how AI is reshaping gynaecologic cytology, paving the way for more effective disease management and enhanced patient care in women's health.
The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) provides a standardised framework for thyroid fine needle aspiration cytology (FNAC). Deep learning approaches, particularly transfer learning, have shown potential for cytology but are rarely applied to TBSRTC categorisation. To evaluate the performance of an ensemble soft voting transfer learning model in categorising thyroid cytology smears according to TBSRTC. A retrospective study of 94 thyroid FNAC cases with 949 representative images was conducted. Six transfer learning models (Xception, ResNet50V2, DenseNet121, MobileNetV2, InceptionV3, EfficientNetB3) were combined using ensemble soft voting with a weighted average. Model performance was assessed using sensitivity, specificity, precision (PPV), negative predictive value (NPV), F1 score and area under the receiver operating characteristic curve (AUCROC). DenseNet121 achieved the highest overall sensitivity (0.91) and specificity (0.98) among all single models. The weighted ensemble model achieved an F1 score of 0.867, marginally below DenseNet121 but with superior precision (0.882) and NPV (0.968). AUCROC was highest in DenseNet 121 (0.99) followed by the weighted ensemble (0.98). This is the first study to apply ensemble transfer learning to TBSRTC categorisation. The approach demonstrated strong predictive accuracy, particularly for benign and malignant categories. Larger datasets, ideally with whole-slide imaging, are needed to further validate these findings.
Screening high-risk populations for lung cancer with low-dose computed tomography (LDCT) reduced lung cancer mortality. Endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) is a well-established technique for the diagnosis of peripheral pulmonary lesions (PPLs) during bronchoscopy. Moreover, rapid on-site evaluation (ROSE) improves the diagnostic yield and accuracy of EBUS-TBNA. Nevertheless, it remains unclear whether ROSE is an efficacious diagnostic tool for PPLs. Therefore, this meta-analysis aimed to assess the diagnostic accuracy of ROSE for PPLs during EBUS bronchoscopy. A comprehensive search of the PubMed, Embase, and Cochrane Library databases was conducted to identify studies that evaluated the diagnostic accuracy of ROSE for PPLs during EBUS bronchoscopy. Our study included articles that evaluated the performance of ROSE against a reference standard. Additionally, we examined journal articles that provided sufficient data to construct a 2 × 2 table on a per-lesion basis. To estimate the overall sensitivity and specificity, a meta-analysis was conducted using a bivariate random-effects model. Thirteen studies with 1841 PPLs were included. The meta-analysis yielded a pooled sensitivity of 88.1% and a pooled specificity of 91.7%. A subgroup analysis for studies that enrolled patients who underwent CT produced a pooled sensitivity of 94.2% and a pooled specificity of 96.9%. Furthermore, accuracy of ROSE sampled by EBUS using a guide sheath showed a pooled sensitivity of 88.5%. The ROSE technique demonstrated high sensitivity and specificity for lung cancer detection during EBUS bronchoscopy for PPLs. Furthermore, ROSE might have higher sensitivity among patients who underwent CT.
Endoscopic ultrasonography-guided fine needle aspiration (EUS-FNA) is widely used for diagnosing pancreatic neoplasms, contributing to improved therapeutic strategies for pancreatic cancer. This aim of this study is to evaluate the diagnostic utility, sample adequacy, and limitations of EUS-FNA cytology for pancreatic lesions. These were further confirmed after surgical resection and histopathological evaluation. We retrospectively included patients referred to two Teaching Hospitals in southern Iran for EUS-FNA due to suspected pancreatic cancer, who later underwent surgical resection or biopsy and eventually had a histopathological confirmed diagnosis. The cytological smears from EUS-FNA were compared with the final histology reports to assess diagnostic performance. Thirty patients were included in the final analysis. EUS-FNA cytology showed sensitivity of 90.00% [95% CI: 68.30, 98.77], specificity of 80.00% [95% CI: 44.39, 97.48], negative predictive value (NPV) of 80.00% [95% CI: 50.89, 93.92], positive predictive value (PPV) of 90.00% [95% CI: 72.09, 96.91], and overall accuracy of 86.67% [95% CI: 69.28, 96.24]. Two false-positive diagnoses (hydatid cyst and chronic pancreatitis) and two false-negative diagnoses (malignancies attributed to sampling errors) were observed. Immunohistochemical tests confirmed 8 out of 9 diagnoses made by cytology. Notably, all EUS-FNA samples provided adequate material for conclusive diagnosis. These results support the high importance of the diagnostic performance of EUS-FNA on solid pancreatic lesions, even without Rapid On Site Evaluation (ROSE), given that the sample is of adequate size for testing. Despite a few false negative and false positive diagnoses, EUS-FNA should be considered the first-line diagnostic tool for pancreatic lesions assessment.
This study aimed to analyze the morphological characteristics of cells observed in pleural effusion cytology specimens using computer-assisted image analysis (CAIA). We examined 166 pleural effusion cytology specimens obtained for suspected lung cancer, including 80 negative, 22 suspicious and 64 positive cases. Whole-slide images (WSIs) were generated from Papanicolaou-stained specimens, and image analysis was performed using virtual slide cytology image analysis software. A scatter plot was then created, with the x-axis representing the area of each cell or cell cluster and the y-axis representing the maximum nuclear area within that cluster. The resulting plot type and the positive rate (PR) were subsequently evaluated. Four distinct plot types were defined from the scatter plots: small cluster type (S-type), horizontal type (H-type), vertical type (V-type) and diagonal type (D-type). Overall, S-type and H-type patterns were commonly observed in non-cancer or cytologically negative cases, whereas V-type and D-type patterns predominated in cytologically positive cases. In suspicious cases, S-type and V-type plots each accounted for roughly half of the samples. The PR was significantly higher in cytologically positive cases relative to non-cancer and cytologically negative cases (p < 0.0001). In pleural cytology specimens from patients with lung cancer, the degree of cell aggregation and nuclear overlap is an important factor for distinguishing benign from malignant lesions. Moreover, although AI-based image analysis has advanced rapidly in recent years, this study emphasizes the continued value of CAIA approaches that employ algorithms readily interpretable by humans.
Performance feedback aims to improve quality, yet challenges in data selection, presentation and management of human interactions persist. Interactive dashboards summarising key performance indicators (KPIs) and fostering active engagement may enhance feedback. This study presents our experience with the CytoLog application-an updated version of the pilot dashboard at Eurofins-Medserv Laboratory (EML)-and pilot results at the Cytology Laboratory, Kenézy Gyula Campus, University of Debrecen (CLUD). Data extraction, processing (including KPI calculation), and dashboard development were performed in Python and deployed as a web-based application. API endpoints were utilised to ensure secure, anonymized patient data access and user-specific dashboards. CytoLog introduces data tables, trend charts, and a quality gauge as additions to the pilot dashboard and supports quarterly updates. At EML, 1,045,034 Pap tests and 14,227 thyroid cytology cases (2018-2024) were examined, involving 11 cytopathologists (CPs) and 23 cytotechnologists (CTs). A gratifying improvement in the ASC/LSIL ratio (0.8 to 1.7) was observed, and the ASC-US/ASC-H ratio corrected between 2023 and 2024 (75.7%/24.3% to 80.3%/19.7%). The abnormal rate decreased (6.6% to 3.5%). At CLUD, 198,663 Pap tests (2020-2024) were examined, involving 3 CPs and 10 CTs. A decrease in both the abnormal rate (8.3% to 5.3%) and the ASC/LSIL ratio (6.6 to 3.2) was observed. The CytoLog application enables continuous performance monitoring while ensuring secure data management and adaptability across different laboratory environments. The improvement of the ASC/LSIL and ASC-US/ASC-H ratios at EML testify to the impact of self-directed quality improvement even without structured interventions. Awareness of metric limitations and potential bias remains essential when interpreting data-driven trends.
This study evaluated the diagnostic performance of high-resolution whole slide imaging (WSI) for primary cytological diagnosis across a broad range of specimen types and preparations. In a single-centre, retrospective validation study, 88 archived cytology cases representative of routine clinical practice were scanned at 40× equivalent magnification (0.23 μm/pixel) using the Hamamatsu NanoZoomer S360MD Slide scanner system. Specimens included gynaecological and non-gynaecological exfoliative and fine needle aspirate samples, prepared as smears, ThinPreps, cytospins or cell blocks. WSI were each reviewed independently by two expert cytopathologists with minimal prior digital cytology reporting experience, blinded to original light microscopy (LM) diagnoses. Discordant cases underwent LM review. Diagnostic concordance and agreement were assessed using percentage concordance and Cohen's κ (unweighted and weighted, for non-gynaecological cases only). A post-study questionnaire captured qualitative feedback. Of the 88 cases, 65 showed concordance between digital and LM diagnoses. Amongst the remaining 23 cases, 15 demonstrated diagnostic discrepancy by LM. Excluding these, the digital-LM concordance rate was 95.1%. When all cases were included, concordance ranged from 89.5% for within-observer analysis to 89.8% when compared with a majority LM diagnosis. Agreement analysis demonstrated substantial to near-perfect digital-LM agreement (unweighted κ = 0.86; weighted κ = 0.83-0.95), improving further following exclusion of diagnostically discrepant cases (κ = 0.89-0.97). Inter-observer agreement was lower than intra-observer agreement for both digital and LM comparisons. Feedback indicated that image quality was generally good. Challenges included visualising thick smear preparations, three-dimensional cell clusters, sparse atypical cells and screening gynaecological (cervical) cytology cases. All participants expressed openness to adopting digital cytology. High-resolution WSI demonstrated strong diagnostic concordance with traditional LM across a wide range of cytological specimen types and preparations. Despite limited prior experience, digital cytology was considered acceptable and feasible, supporting its integration into routine clinical practice, with appropriate training and quality assurance.
To evaluate the performance and concordance of the MammaTyper molecular test across cytological, biopsy and surgical samples from breast carcinomas, emphasising the applicability of cytology in molecular subtyping. 29 breast carcinoma cases, each represented by cytological, biopsy and surgical samples, were retrospectively collected from 2021 to 2025 at the Pathology Unit of Trieste. Subtyping was performed using MammaTyper on all sample types. Concordance between MammaTyper results across different sample types was assessed using Lin's concordance correlation coefficient (CCC), overall concordance rate (OCR) and kappa statistics. A total of 84 samples from breast carcinoma were analysed, including FNAC, CNB and surgical resection specimens. Molecular subtyping was technically successful in all cases. When comparing IHC and MammaTyper results retrieved in CNBs, we found almost perfect agreement for ER, substantial agreement for PgR and HER2 and moderate agreement for Ki-67. Concordance rates between cytology and FFPE samples (respectively CNB and surgical specimens) showed excellent agreement for ER (CCC 0.81 and 0.835), good agreement for PgR (0.714 and 0.78), excellent agreement for HER2 (0.855 and 0.854) and moderate agreement for Ki-67 (0.626 and 0.643). In particular, discrepancies in HER2 and Ki-67 status between cytological and FFPE samples were observed in a relevant subset of cases, potentially affecting therapeutic stratification. MammaTyper demonstrated high concordance and reliability on cytological and biopsy samples, supporting its use in minimally invasive diagnostics. Despite the discrepancies in some markers, cytology offers a cost-effective, less invasive alternative to biopsies for molecular subtyping, aligning with precision medicine goals.
Epstein-Barr virus (EBV)-positive nodal T- and natural killer (NK)-cell lymphoma (EBV+ NTNKL) is a recently characterised rare malignancy arising from cytotoxic T or NK cells, typically presenting as nodal disease in adults. This lymphoma was recently recognised in the 5th edition of the World Health Organization Classification of Haematolymphoid Tumours. A comprehensive review of the existing literature revealed no cytological descriptions of this disease. Here, we present the first description of cytological observations from a touch smear of EBV+ NTNKL. In this case, the cytological features of EBV+ NTNKL included centroblastoid nuclei, resembling diffuse large B-cell lymphoma (DLBCL), along with abundant cytoplasm containing azurophilic granules observable with May-Giemsa staining. These cytoplasmic features are consistent with the cytotoxic T/NK-cell lineage of the tumour cells. In the cytological diagnosis of EBV+ NTNKL, it is critically important to understand the distinguishing features that differentiate it from morphologically similar DLBCL. It is also necessary to differentiate EBV+ NTNKL from extranodal NK/T-cell lymphoma, which is an important differential diagnosis in the evaluation of EBV-associated lymphomas. Recognition of the specific cytomorphological features of this lymphoma is of practical significance when fine-needle aspiration cytology, frequently used as an initial diagnostic step for lymph node lesions, is employed and when touch smear cytology is performed to complement histological findings.
Participation in diagnostic intercomparison programs is a mandatory requirement for accreditation of cytology laboratories. Results described by these programs in cervico vaginal cytology (CVC) show a significant number of discrepancies. We hypothesised whether the use of IA systems, such as the ThinPrep Genius system, would improve diagnostic concordance. We simulated an intercomparison program between two centres in which four observers used the same 30 cases of CVC with negative diagnoses, ASCUS, LSIL and HSIL and observed them with light optic microscopy (OM) and two Genius (G1 and G2) systems, one from each centre. The diagnostic agreement between OM and the two Genius was similar, with overall agreement values of 82% for G1 and 78% for G2 and OM, and similar kappa values for the three techniques. However, both Genius diagnosed glandular lesions that were not included in the selected cases and were not diagnosed with OM. The concordance obtained in both OM and Genius is acceptable and falls within the range of that obtained in what is described in intercomparison programs. We must consider the greater affinity for diagnosing glandular lesions with Genius and the fact that there may be discrete differences between two different devices, probably due to calibration.
The objective of this study was to investigate the protein expression of PD-L1 in the pleural fluid of lung adenocarcinoma patients with malignant pleural effusion. Additionally, we aimed to analyse the association between PD-L1 expression and the mutational status of ten driver genes: EGFR, ALK, ROS1, BRAF, KRAS, NRAS, HER2, RET, PIK3CA, and MET. A total of 161 cytological specimens were collected from patients that had been diagnosed with lung adenocarcinoma at the Fourth Hospital of Hebei Medical University between January 2021 and September 2024. The cytologic samples were tested for tumour PD-L1 expression using a VENTANA PD-L1 (SP263) assay. EGFR, ALK, ROS1, BRAF, KRAS, NRAS, HER2, RET, PIK3CA, and MET mutations in the fresh cytological samples were detected using an amplification refractory mutation system and an ABI 7500 RT-qPCR system. Among 161 pleural fluid cytological specimens, 24.2% (39/161) presented a PD-L1 tumour proportion score (TPS) of ≥ 50%, whereas 39.1% (63/161) presented a TPS ranging from 1% to 49%. Additionally, 36.7% (59/161) demonstrated a TPS of < 1%. The mutation status analysis of 160 pleural fluid cytological specimens revealed EGFR mutations in 75 cases (46.9%), no mutations in 35 cases (21.9%), KRAS mutations in 20 cases (12.5%), ALK mutations in 9 cases, BRAF mutations in 7 cases, MET mutations in 3 cases, ROS1 mutations in another set of 3 cases, and other types of mutations identified in an additional 8 cases. The expression level of PD-L1 in pleural fluid cytological samples from patients with EGFR mutations was not significantly different from that in those from patients with no mutations (p = 0.473). In contrast, the expression levels of PD-L1 in patients with KRAS, ALK, and BRAF mutations were significantly different from those in patients with no mutations (p = 0.045; p = 0.007; p = 0.01). Our findings suggest that PD-L1 immunohistochemistry is effective for evaluating pleural fluid cytological specimens and that PD-L1 expression is significantly higher in lung adenocarcinoma patients with malignant pleural effusions associated with the KRAS, ALK and BRAF mutations.
Fine-needle aspiration cytology (FNAC) is a key diagnostic method for salivary gland lesions. The Milan System for Reporting Salivary Gland Cytology (MSRSGC), a six-tiered classification system, standardises reporting and provides risk of malignancy (ROM) for each category. Although MSRSGC recommends ancillary tests such as immunocytochemistry (ICC), reports on their clinical application remain limited. This study aimed to investigate the utilisation rate of ancillary tests in MSRSGC classifications and assess their effectiveness, particularly with liquid-based cytology. Diagnostic records of salivary gland FNAC cases at Kurume University Hospital (January 2020 to December 2024) were reviewed, and those evaluated by MSRSGC were extracted. Utilisation rate of ancillary tests, FNAC sensitivity and specificity, and ROM were calculated in cases with histopathological follow-up. Among 321 salivary gland FNAC cases, 131 had histopathological follow-up. Ancillary tests were used in 22.1% of cases, most often in SUMP (IVB), Suspicious for Malignancy (V) and Malignant (VI). ICC yielded a definitive histological diagnosis in 37.9% and a suggestive diagnosis in 27.6%. ROM by MSRSGC category was: Non-Diagnostic (I) 0%; Non-Neoplastic (II) 12.5%; AUS (III) 35.7%; Benign Neoplasm (IVA) 0%; SUMP (IVB) 27.8%; Suspicious for Malignancy (V) 75.0%; and Malignant (VI) 100%. FNAC sensitivity and specificity were 97.3% and 98.2%, respectively. Ancillary testing, particularly ICC, enhances the reliability of MSRSGC and contributes to improved diagnostic accuracy.
Cytology specimens are less invasive than tissue biopsies, and in some cases of non-small cell lung cancer (NSCLC), they may be the only available material. The expression of programmed death ligand-1 (PD-L1) and indoleamine 2-3 dioxygenase 2 (IDO-2) predicts the response to new treatment modalities. The aim of the study was to investigate the validity of cell blocks prepared from cytology for evaluation of PD-L1 and IDO-2 expression in NSCLC and to compare the expression of these markers in cell blocks and the corresponding tissue sample. This cross-sectional study included 32 specimens of bronchoalveolar lavage (BAL) cytology and their cell block preparations. Among them, 20 cases also had bronchoscopic biopsy. PD-L1 and IDO-2 immune staining were done for all cases. A statistically significant association is observed between high PD-L1 expression and both tumour size (p = 0.00014) and grade (p = 0.00001). High IDO-2 expression is associated with low TILs (p = 0.03). Results of PD-L1 and IDO-2 expression in bronchoscopic biopsy and cell block preparations of the same cases showed no statistical difference (p = 0.246). There was no significant difference in PD-L1 and IDO-2 expression between cytological and bronchoscopic biopsies of lung cancer, which supports the effective use of cytological specimens and reduces the need for more invasive procedures.
Tall cell subtypes of papillary carcinoma thyroid (T-PTC) are defined as tumour cells with a height: breadth ratio of > 3. The tall cell subtype of papillary thyroid carcinoma is known for its poor outcomes and aggressive nature. Its definitive preoperative recognition would be advantageous and would help the surgeon to plan a more effective treatment regimen. We aim to determine if the cytomorphological features are sufficiently characteristic to enable their distinction from classic subtypes of PTC on FNAC. We compared the cytological features of 20 cases of histologically proven T-PTC with 20 cases of the classic PTC (C-PTC). The presence of tall cells (Height: breadth ratio > 3) was confirmed by image morphometry. Thirty-six parameters, pertaining to architectural, cytological, nuclear and background characteristics, were analysed using a semi-quantitative scoring system. The statistical significance of the data was determined using Fisher's probability test and Chi-square test. Tall cells, spindle cells, tail-like cells, and isolated tumour cells were seen in a significantly higher number of cases of T-PTC than C-PTC (p value < 0.05). These features' sensitivity, specificity, PPV and NPV in identifying T-PTC range from 90% to 100% and approach 100% when all four features are present in a given case. The cytomorphological characteristics of T-PTC are distinct. Key features distinguishing T-PTC from C-PTC include tall cells, spindle-shaped cells and tail-like cells with irregular nuclear contours. These distinctive cytomorphological attributes can aid cytopathologists in differentiating T-PTC from the classic subtype during preoperative FNAC.
Mediastinal masses often present acutely as medical emergencies, necessitating prompt and accurate diagnosis. Imaging-guided fine needle aspiration cytology (FNAC) plays a pivotal role in rapidly identifying rare mediastinal tumours and differentiating them from other potential aetiologies, enabling timely intervention. Primary mediastinal germ cell tumours (PMGCTs) constitute approximately 15% of adult mediastinal neoplasms. The development of somatic-type malignancies, particularly colonic-type adenocarcinoma, in PMGCTs is rare and typically associated with a poor prognosis. Combining cytological findings with imaging, serum tumour marker analysis and immunohistochemistry can facilitate the detection of various germ cell components and aid in diagnosing GCTs. We report the case of a 35-year-old male presenting with symptoms of mediastinal compression. Contrast-enhanced computed tomography (CECT) revealed an ill-defined anterior mediastinal lesion measuring 9.2 cm in maximum dimension with a heterogeneous appearance. Emergency ultrasound-guided FNAC was performed, yielding highly cellular smears that showed malignant epithelial cell clusters with intracytoplasmic and extracellular mucin, as well as strips and clusters of benign intestinal epithelial cells. Based on the cytomorphological features, the patient's age and imaging findings, a diagnosis of somatic-type adenocarcinoma arising in a background of teratoma was suggested. Histopathological examination of the excised mass confirmed the cytological diagnosis. Adenocarcinoma in the mediastinum may arise from primary sites such as the aerodigestive tract or represent metastatic disease. However, in this case, the presence of a benign intestinal epithelial component strongly indicated a teratomatous origin. This report underscores the utility of imaging-guided FNAC as a minimally invasive and effective diagnostic tool, enabling early diagnosis and timely treatment initiation in patients presenting with acute mediastinal obstruction.
Pleural mesothelioma (PM) is an aggressive malignancy in which pleural effusion cytology is often the first diagnostic material. MTAP immunohistochemistry, while not a stand-alone diagnostic tool, may serve as a useful adjunct when combined with other markers in the evaluation of pleural mesothelioma. However, the diagnostic relevance of nuclear versus cytoplasmic MTAP loss in cytology specimens remains unclear. We retrospectively analysed pleural effusion cytology samples from 48 histologically confirmed PM cases (2017-2022). Dual-colour fluorescence in situ hybridization (FISH) was performed for p16/CDKN2A, while MTAP immunohistochemistry (Proteintech 2B1G6 clone) was assessed for nuclear and cytoplasmic loss, further subclassified as focal or diffuse. Associations between MTAP loss and p16/CDKN2A deletion were evaluated using Fisher's exact test. MTAP loss was observed in 21 cases (43.8%), while homozygous p16/CDKN2A deletion was detected in 33 cases (68.8%). Concurrent MTAP loss and p16/CDKN2A deletion occurred in 15 cases (31.3%). Nuclear and cytoplasmic MTAP loss were perfectly concordant in terms of presence (p < 0.001), although their staining patterns differed: diffuse nuclear loss often corresponded to focal rather than diffuse cytoplasmic loss. No significant association was observed between MTAP staining patterns and p16/CDKN2A deletion (p > 0.05). Our findings demonstrate that while nuclear and cytoplasmic MTAP loss are concordant in presence, staining patterns and antibody clone selection affect correlation with p16/CDKN2A deletion. Given that pleural effusion cytology is often the initial diagnostic step in PM, standardised MTAP testing protocols are needed to ensure reproducibility and minimise false-negative interpretations, rather than implying improved diagnostic accuracy.
Inflammatory myofibroblastic tumour (IMT) is an uncommon mesenchymal neoplasm with intermediate malignant potential, typically arising in the lungs, abdomen, or retroperitoneum. Breast involvement is extremely rare, with limited reported cases. To the best of our knowledge, less than 50 cases of this lesion in the breast have been reported to date and cytological descriptions are very rare. A 47-year-old female presented with a painless mass in the right breast. Imaging revealed a well-defined lobulated soft tissue mass categorised as BIRADS 4A. The cytomorphologic features on fine needle aspiration smears showed spindle cell fragments with inflammatory cells, suggestive of a chronic inflammatory lesion. A subsequent histopathological examination of the excised specimen revealed proliferating spindle cells with a dense lymphoplasmacytic infiltrate consistent with IMT. Immunohistochemistry (IHC) was crucial in ruling out differential diagnoses such as myofibroblastoma, fibromatosis and IgG4-related sclerosing disease. The patient remained recurrence-free post lumpectomy until 24 months of follow-up. Primary breast IMT remains a diagnostic challenge on aspiration cytology due to its rarity and overlap with other spindle cell lesions. Comprehensive evaluation and ancillary testing, including ALK immunohistochemistry and molecular assays, may be essential for accurate diagnosis.