Diagnostic Cytopathology最新文献

Pharyngoesophageal diverticula (PED) are uncommon hypopharyngeal outpouchings that may mimic thyroid nodules because of their close anatomic proximity to the thyroid gland. We describe two cases in which PED presented as thyroid nodules and resulted in atypical cytological findings. The first case was a 56-year-old man, who presented with hoarseness and chronic cough. Ultrasonography showed a heterogeneous hypoechoic nodule, and fine-needle aspiration (FNA) revealed benign squamous cells, food debris, inflammatory cells, and microorganisms, supporting the diagnosis of a PED. The second case was a 61-year-old man with chronic throat discomfort and an incidental neck mass initially suspected to be a benign thyroid nodule. Repeated FNA cytology consistently demonstrated benign squamous cells without thyroid follicular cells or colloid, and imaging correlation suggested a PED. These cases highlight the importance of correlating cytological and imaging findings when assessing presumed thyroid nodules to prevent misdiagnosis and unnecessary thyroid surgeries.

Objective: To study the clinicopathological spectrum of parasitic infections diagnosed by fine needle aspiration cytology (FNAC) with histopathological and radiological correlation.

Methods: This was a retrospective study where out of a total of 6213 FNAC of superficial palpable lumps from various sites performed during the study period of 1 year, that is, from July 2022 to July 2023, 97 (1.56%) cases were retrieved out of which 56 cases (0.90%) were diagnosed as definitive parasitic lesions and 41 (0.65%) cases were suspicious of parasitic lesion on cytology which were later correlated with histological and clinical findings.

Results: Among 97 patients, 47 were males (48.5%) and 50 were females (51.5%) with the maximum number of cases in the age group of 10-45 years (50%). Overall, the most commonly affected site was the upper extremities 36/97 (37.1%) followed by the lower extremities 26/97 (26.8%) and the abdominal wall 14/97 (14.4%). Cytological findings revealed cysticercosis in 45/97 (46.3%) cases, followed by filaria in 5/97 (5.15%), echinococcus in 6/97 (6.18%), and suspicious parasitic lesions in 41/97 (42.2%) cases. 24 cases had histopathology for confirmation mostly in those suspicious for parasitic lesions. Radiological findings in parasitic lesions to depict specific features were also obtained.

Conclusion: FNAC is a rapid, safe, cheap, reliable, and early diagnostic modality to diagnose parasitic infections in developing/endemic nations where parasitic infestation is one of the major health concerns. Careful inspection of swellings, their aspirates, and examination of cytological smears is highly useful for early and definitive diagnosis of the disease leading to proper treatment as well as control of infestations.

Phagocytic activity of mesothelial cells is a rare phenomenon requiring careful differentiation from histiocytic hemophagocytosis to ensure appropriate patient management, as these phenomena could exhibit distinct clinical implications. In this study, we report a case of phagocytic mesothelial cells found in pericardial effusion that developed 18 months after allogeneic peripheral blood stem cell transplantation for chronic active Epstein-Barr virus (EBV) infection. The patient presented with fever and dyspnea, alongside mild chronic graft-versus-host disease, affecting the shoulders and skin. Cytological examination revealed mesothelial cells containing intracytoplasmic lymphocyte-like structures and hemosiderin granules, confirmed by Berlin blue staining. Immunocytochemical analysis indicated pan-cytokeratin (AE1/AE3), calretinin, and desmin positivity as well as CD163 negativity, confirming their mesothelial origin. The ferritin level of the patient remained at 370.0 ng/mL. EBV DNA was undetectable in peripheral blood. The clinical course was favorable, without systemic complications or recurrent effusion. This case highlights the importance of accurate cytomorphological and immunocytochemical characterization of phagocytic mesothelial cells in post-transplantation settings.

Introduction: Endometrial cancer (EC) is one of the most common gynecological cancers worldwide, with a rising incidence that highlights the urgent need for effective screening methods. Despite early-stage diagnosis and favorable survival rates, current screening methods such as transvaginal ultrasonography lack specificity, often necessitating invasive procedures and revealing a significant gap in EC detection.

Methods: We conducted a comprehensive analysis of DNA methylation in cytological specimens as a biomarker for EC screening. Using a literature review and the UALCAN and Wanderer databases, we identified 7 hypermethylated genes associated with EC. Endometrial samples were collected from 300 women, and endometrial cytology testing (ECT) and quantitative methylation-specific PCR (qMSP) were used to evaluate these genes. An XGBoost algorithm-based model was developed to predict EC using DNA methylation data, with performance assessed through sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC).

Results: The methylation levels of HTR1B, CELF4, and TBX5 were significantly elevated in EC and atypical hyperplasia compared to benign samples. The diagnostic model combining these genes demonstrated superior performance, achieving 97% sensitivity and an accuracy of 90%. SHAP value analysis indicated that TBX5 (1.079), HTR1B (0.990), and CELF4 (0.712) positively influenced the model's predictive power, with weights for TBX5 and HTR1B being similar but higher than that of CELF4.

Conclusion: Integrating DNA methylation markers into ECT offers a non-invasive and highly accurate approach to EC screening. This model's high diagnostic accuracy and reliability have the potential to transform EC diagnosis, reducing reliance on invasive procedures and improving clinical management.

Background: There is a severe shortage of anatomical pathologists, cytologists, and technologists in Africa compromising patient care, despite the practice of cytology being well-suited to resource-constrained settings. Digital diagnostics have been proposed as a solution to the lack of laboratory personnel. This study was undertaken to provide an overview of the current implementation and operational status of digital diagnostics in anatomical pathology and cytology in Africa and to assess African laboratory personnel's attitudes regarding these emerging technologies.

Methods: A digitized anonymized survey was disseminated using several African pathology and cytology WhatsApp groups and on the Twitter/X social media platform.

Results: There were 87 completed surveys, mainly from respondents in southern Africa. One third of respondents were utilizing whole slide imaging mainly for primary histologic diagnosis and consultations. The use of whole slide imaging in cytology was less. Key challenges with whole slide imaging include high implementation and maintenance costs, suboptimal image quality, particularly for cytology, and slow scanning times. Telepathology and telecytology were employed by 20.7% of respondents, mainly for remote consultations and resident training with users generally expressing positive perceptions of its diagnostic value. However, insufficient infrastructure, particularly unreliable internet connectivity and unstable electricity supply, was identified as a major barrier.

Conclusion: Respondents without access to digital technologies tended to hold more optimistic expectations regarding their potential benefits than those already using them. This highlights the need to foster more realistic expectations with respect to digital diagnostics and to improve the technical performance and implementation of existing systems.

Background: Accessory spleens result from failure of splenic fusion during development and are occasionally located in the pancreatic tail, radiographically appearing as solid or solid/cystic lesions. Fine needle aspiration (FNA) easily identifies accessory spleens in most samples based on architecture and using CD8 to highlight splenic sinusoidal cells. However, in small samples, the architecture is not readily appreciated, and cross-reactivity with CD8+ T-cells can create diagnostic challenges. The purpose of the study is to evaluate the utility of steroidogenic factor 1 (SF1) immunohistochemical (IHC) staining in identifying accessory spleens.

Methods: A retrospective search of FNA samples from 2010 to 2023 was performed to collect cases signed out as or consistent with intrapancreatic accessory spleen or splenule. Comparison tissue was collected from the regional lymph nodes. Tissues with no or hypocellular cell blocks were excluded from the study. IHC stains CD8 and SF1 (EP434) Rabbit Monoclonal Primary Antibody were performed on the cell blocks.

Results: The intrapancreatic accessory spleens (13 cases) were universally positive for both cytoplasmic CD8 and nuclear SF1 in a sinusoidal pattern. The regional lymph nodes (15 cases) showed positivity for CD8 in background lymphocytes (scattered) and were universally negative for SF1.

Conclusions: While CD8 and SF1 are comparable in their sensitivity, SF1 has benefits in cytologic samples. As a nuclear stain, SF1 is more easily interpreted and better suited for cell transfers. SF1 also eliminates the background CD8+ T cell staining that can be present in lymphoid tissue. Overall, utilization of SF1 can be beneficial in the cytologic workup of an intrapancreatic accessory spleen.

We report a rare case of salivary duct carcinoma (SDC) in a 67-year-old male who presented with a rapidly enlarging, ill-defined left upper neck mass, accompanied by both cervical and axillary lymphadenopathy. Initial punch biopsy of the neck mass suggested metastatic breast carcinoma. However, ultrasound-guided fine-needle aspiration (US-FNA) and comprehensive immunohistochemical analysis, in conjunction with radiologic findings, confirmed the diagnosis of SDC. This case highlights the diagnostic challenges of SDC and reinforces the pivotal role of US-FNA cytology in establishing a definitive diagnosis while minimizing invasive procedures.

Background: Atypia of undetermined significance (AUS) represents one of the most controversial diagnostic categories in thyroid cytology, often subject to interpretive bias. This study evaluates whether perceived knowledge of a "positive molecular test" influences the cytologic interpretation of thyroid fine-needle aspiration (FNA) specimens diagnosed as AUS.

Methods: Twenty thyroid FNA cases diagnosed as AUS with benign histologic follow-up following thyroidectomy were selected: eight with nuclear atypia (AUS-N), eight with architectural atypia (AUS-A), and four with oncocytic features. Representative slides (Papanicolaou and Diff Quik stained smears) were chosen and participants were instructed to evaluate the cases based on morphologic evaluation. Randomly selected 10 cases in two groups were presented to 10 participants as having "positive ThyroSeq test" or "no molecular testing information." No molecular testing was performed in reality, as the aim was to measure the effects of "perceived positive testing."

Results: Analysis of 200 responses showed AUS remained the predominant diagnosis (64%) in both groups. When informed of a presumed positive molecular test, participants were more likely to assign a neoplastic or malignant diagnosis (24% vs. 12%, p = 0.023). This trend was most pronounced in AUS-N cases (11 vs. 1 reclassified as suspicious/malignant). For AUS-A cases, more were reclassified as follicular neoplasm under presumed molecular positivity (12 vs. 8). Overall interobserver agreement was poor (Fleiss' kappa = 0.046).

Conclusion: Awareness of a presumed positive molecular test result increases the likelihood of pathologists reclassifying AUS cases as suspicious or malignant. Recognizing and mitigating such cognitive biases is critical for maintaining diagnostic objectivity and ensuring accurate, evidence-based cytologic evaluation.

Meningiomas are the most common primary brain tumors worldwide and are classified into 15 subtypes in the 5th edition of the WHO classification. Myxoid meningioma, characterized by the presence of a mucinous matrix within the tumor, is a rare metaplastic meningioma subtype classified as WHO grade 1. Chordoid meningiomas similarly contain a mucinous matrix, but are WHO grade 2. Accurate distinction between these subtypes is essential for determining appropriate treatment and predicting prognosis. Herein, we present a case of myxoid meningioma requiring differential diagnosis from chordoid meningioma. A man in his 60s presented with falls, depression, and urinary incontinence. Imaging revealed a tumor 6 cm in diameter in the right frontal region. Tumor resection with rapid intraoperative diagnosis was performed. Cytology revealed epithelioid cells with oval nuclei, intranuclear cytoplasmic inclusions, and mucinous matrix. Squash cytology confirmed tumor cell clusters with a vascular network. Histological examination revealed tumor cells forming cord-like structures within an Alcian blue-positive, Periodic acid-Schiff-negative mucinous matrix, along with an abundant vascular architecture. Myxoid and chordoid meningiomas share many cytological similarities, and mucin staining patterns are diagnostically unclear. However, the latter tend to show lymphocytic and plasma cell infiltration. This case lacked such infiltration, and the vascular stroma aided differentiation. For rapid intraoperative diagnosis, a combination of frozen sections and cytology, less susceptible to freezing artifacts, is considered beneficial for accurate diagnosis. In meningiomas with a mucinous matrix, careful evaluation of cellular appearance and tumor stroma findings is essential for distinguishing between subtypes with different WHO grades.

Gangliocytic paraganglioma (GP) is a rare tumor that predominantly occurs in the duodenum. We report a case of GP in a man in his 70s. The specimen obtained by EUS-FNAC revealed three cell populations: epithelioid cells, spindle cells, and ganglion-like cells, similar to those seen in NET and paraganglioma. While NET and GIST are considered differential diagnoses, the cytological features of GP have been reported, but the number of such reports is limited. In this paper, we report a case of GP with a comparison of cytological and histological findings.