Cytopathology最新文献

Background: 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.

Methods: 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.

Results: 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).

Conclusion: 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.

Objective: 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.

Methods: 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.

Results: 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%.

Conclusion: 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.

A 35-year-old woman presented with a 2-cm D enlarged right supraclavicular lymph node. Fine needle aspiration cytology smears showed abundant spindle cells with many osteoclast-like giant cells. The case was kept for discussion in the enigma portal.

Background: Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal tumours and its incidence is increasing. Definitive diagnosis requires pathological confirmation. Cytology samples are obtained using endoscopic ultrasound-guided fine needle aspiration (EUS-FNA). The utility and storage conditions of residual liquid-based cytology (LBC) for PDAC remain poorly defined.

Methods: From 2020 to 2024, 268 patients were diagnosed with PDAC using EUS-FNA and LBC. Cell blocks were prepared when possible, and residual LBC samples were stored.

Results: Molecular studies were requested for 54 patients. Residual LBC was the only sample available in eight patients. Molecular analyses were requested at more than 2 months and up to 27 months after diagnosis in 31.7% of patients and performed on residual LBC or cell block based on availability and quality. Samples were not analysed in parallel. DNA concentration was higher in LBC than cell blocks, and MAPD (median absolute pairwise difference) was lower. LBC storage time did not affect NGS validity. Residual LBC provided an adequate proportion of valid studies in NGS DNA and MSI RT-PCR, showing no difference to cell blocks. RNA provided fewer valid studies, with no differences between sample types. The most frequently detected mutations were KRAS (35/41) and TP53 (12/41). No fusions or MSI were detected.

Conclusions: In a real clinical setting, we show that residual LBC samples from PDAC are valid for molecular analysis, preserving the quality of nucleic acids. Residual LBC may be the only available sample and should be preserved to ensure patient access to targeted therapies.

Objective: 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.

Methods: 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.

Results: 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.

Conclusions: Ancillary testing, particularly ICC, enhances the reliability of MSRSGC and contributes to improved diagnostic accuracy.

DICER1-mutated thyroid lesions can range from indolent to aggressive neoplasms. Infarction has been recently described as a histologic feature of DICER1-mutated thyroid nodules. In this case report, we presented a DICER1-mutated nodule which presented predominantly with debris in the fine needle aspiration (FNA) specimen and was confirmed on surgical resection to be a near total infarcted nodule. To the best of our knowledge, this is the first cytopathology report of a DICER1-mutated thyroid lesion presenting as an infarcted nodule. Awareness of the features described herein may help prevent both overdiagnosis and underdiagnosis in the evaluation of thyroid nodules via FNA.

Granular cell tumours (GCT) are rare neoplasms and were first described in 1926 by Abrikossoff. These tumours occur in adults and are reported mainly in oral mucosae, skin and subcutaneous tissue. Herein, we present a case of GCT in the submandibular region in a 10 year old girl. Fine needle aspiration cytology (FNAC) can be challenging, as there can be many overlapping features with other entities, especially if located in an unusual location. We present an atypical presentation with cytohistological correlation.

Atypical spindle cell/pleomorphic lipomatous tumour (AS/PLT) is a novel entity described under the benign lipomatous neoplasm recognised by the recent WHO classification of soft tissue tumours (fifth edition). In this report, we present a case of a 44-year-old male who with a swelling on dorsum of the hand measuring 8 × 8 cm. A Fine needle aspiration cytology (FNA) was performed which revealed adipocytic fragments with individual cells exhibiting mild to moderate nuclear atypia with floret like cells, multinucleated giant cells along with few pseudo-lipoblast-like cells. Based on cytomorphological findings a possibility of an Atypical spindle cell/Pleomorphic lipomatous tumour [AS/PLT] was given. An excision was performed which revealed features confirmed the diagnosis of an AS/PLT. MDM-2 Immunohistochemistry was performed and was negative ruling out a well differentiated Liposarcoma. Hence, the diagnosis was confirmed on histopathological examination. AS/PLT is a unique novel benign neoplasm with a slightly higher recurrence rate than a Pleomorphic lipoma. Here, we discussed the characteristic cyto-morphological features of an AS/PLT that help in the diagnosis and guide further surgical management.

Introduction: Medullary thyroid carcinoma (MTC) is a rare malignant tumour of the thyroid gland that originates from parafollicular cells. Although rare, MTC is aggressive, so early detection is important for improving prognosis. The accuracy of fine-needle aspiration cytology (FNAC) for diagnosing MTC is still controversial.

Methods: The data of 20 patients who underwent thyroid FNAC with histological follow-up to diagnose MTC between 2016 and 2024 were retrospectively collected from The First Affiliated Hospital of Soochow University. Cytological findings, histological features, and serological testing were reviewed, and causes of misdiagnosis were evaluated.

Results: The diagnostic accuracy of FNAC was 90% (18/20). Two patients were initially misdiagnosed with suspected papillary thyroid carcinoma, while eighteen patients were accurately diagnosed in the first instance with suspected MTC. Cytopathological analysis revealed plasmacytoid and spindle-like characteristics with 'salt and pepper' chromatin distributed in the nuclei, with occasional giant tumour cells and frequent deposition of pink-stained amyloid in the background. In addition, serum calcitonin and carcinoembryonic antigen were elevated to varying degrees.

Conclusion: Fine-needle aspiration is a highly valuable method for the preoperative diagnosis of MTC.

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.