Diagnostic Cytopathology最新文献

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.

Background: Urinary diversion (UD) including neobladder (NB) samples play a crucial role in diagnosing recurrent urothelial carcinoma (UC) following cystectomy. However, urine cytology (UCy) interpretation in this setting is challenging due to degenerative changes and a necroinflammatory background. The diagnostic performance of UCy using The Paris System (TPS) has not been well established for NB specimens. Moreover, given the distinct characteristics of NB samples compared to other urine specimens, the application of specific adequacy criteria may be necessary.

Methods: This retrospective study analyzed 442 NB urine specimens from 243 patients who underwent cystectomy with UD. One-year surgical pathology or cytology follow up was collected. All specimens were prepared using the cytospin technique, stained with Papanicolaou stain, and assessed using TPS criteria. The presence of preserved benign urothelial cells and urine volume were analyzed to determine specimen adequacy. Youden's index and likelihood ratio testing were applied to identify an optimal volume cutoff.

Results: By applying TPS, positive cytologic diagnoses (atypical or higher) were identified in 3.39% of NB specimens. Among 139 cases with histological or cytological follow-up, UC was confirmed in 10.8%, with 86% being high-grade UC (HGUC). The sensitivity and specificity of TPS for detecting HGUC were 61.5% and 96.8%, respectively. Notably, 60.5% of NB specimens in this cohort lacked preserved urothelial cells. Redefining adequacy criteria to require the presence of at least one preserved urothelial cell markedly increased sensitivity (100%) with only modest changes in specificity and overall diagnostic accuracy. A specimen volume ≥ 45 mL emerged as the optimal cutoff for identifying atypical urothelial cells or higher TPS categories, although statistical significance remained limited (p = 0.12). Applying this threshold led to a modest improvement in the sensitivity of UD cytology (66.67%).

Conclusions: The diagnostic performance of TPS for NB samples was comparable to the performance of pre-TPS cytology in the UD setting, as reported by other studies. Incorporating adequacy criteria based on the presence of at least one preserved benign urothelial cell substantially improves the sensitivity of UCy in NB samples. Additionally, a minimum specimen volume of approximately 45 mL may serve as an adequacy indicator for NB cytology, although its impact on diagnostic performance is limited.

Objective: The cytological characteristics of high-grade medullary thyroid carcinoma (HG-MTC) remain insufficiently defined. This study aimed to elucidate these features and assess their potential in estimating HG-MTC.

Methods: Cytological and histological specimens from 12 patients with HG-MTC and 36 patients with low-grade (LG) MTC were analyzed.

Results: Amyloid was observed in 50.0% of LG-MTC nodules but in only 8.3% of HG-MTC nodules (p < 0.05). Necrotic materials were observed in only one HG-MTC nodule. The frequencies of intracytoplasmic mucin (25.0%), pseudoinclusions (66.7%), mitotic figures (58.3%), and cannibalism (25.0%) in HG-MTC nodules were significantly higher than those in LG-MTC nodules (p < 0.05). Nuclear grooves, fine chromatin pattern, and irregularly shaped nuclei were observed in 41.7%, 41.7%, and 25.0% of HG-MTC nodules, respectively. None of them were observed in LG-MTC nodules (p < 0.05). When at least one of the six cytological features including mitotic figures, nuclear grooves, fine chromatin pattern, irregularly shaped nuclei, intracytoplasmic mucin, and cannibalism was present, the sensitivity and specificity for HG-MTC diagnosis were 91.7% and 83.3%, respectively.

Conclusions: Mitotic figures, nuclear grooves, fine chromatin pattern, irregularly shaped nuclei, intracellular mucin, and cannibalism are cytological findings suggestive of HG-MTC. Except for pseudoinclusions, PTC-like nuclear features can be considered important diagnostic clues for HG-MTC.

Introduction: The Paris System for Reporting Urinary Cytology (TPS) provides a non-invasive screening tool for high-grade urinary bladder carcinomas. In resource-poor settings, urinary cytology continues to be performed on conventional sediment smears (CSS) only. Cell blocks (CBs), though an essential part of cytology, are not part of routine protocol for urinary cytology. The present study was undertaken to compare CSS and liquid-based cytology (LBC) in urinary cytology, and to assess the utility of CB preparation in decreasing the indeterminate/grey zone diagnosis (Non-diagnostic/Atypical Urothelial Cells/Suspicious for High-Grade Urothelial Carcinoma).

Materials and methods: This prospective study evaluated 1051 urine samples from 417 patients. All these samples were processed using CSS and LBC. Diagnostic parameters (sensitivity/specificity/positive predictive value [PPV]/negative predictive value [NPV]/diagnostic accuracy) were analyzed for each preparation with their individual and combined comparisons. CBs were also prepared for each sample.

Results and discussion: For all urine samples in terms of percentage reduction of indeterminate diagnosis, results of CSS alone (29.88% of indeterminate diagnosis) versus LBC alone (30.83% of indeterminate diagnosis) showed no statistically significant difference (p-value 0.468). When the findings were combined for CSS with LBC, the percentage of indeterminate diagnosis was reduced to 27.12%. When the combined results were compared with the findings of CSS alone, the results were statistically significant (p-value < 0.001), and when the combined results were compared with the findings of LBC alone, the results were statistically insignificant (p-value 0.68). Follow-up histopathological diagnosis and/or relevant radiology and/or positive CBs were considered the gold standard, which was available for 620 cases. Diagnostic parameters, along with the Risk of High-Grade Malignancy (ROHM) for these 620 cases, were calculated. Evaluation of the CB reduced the grey zone diagnosis in four cases and helped to reach a definitive diagnosis. However, it was statistically insignificant (p-value 0.125).

Conclusion: CSSs give as good and comparable cytological results as LBC. Though LBC provides a more determinate diagnosis (Negative for High-Grade Urothelial Carcinoma or High-Grade Urothelial Carcinoma) when compared to CSS, this difference is not statistically significant. A combination of LBC with CSS provides superior results than CSS or LBC alone. This study highlights the promising results CSSs provide, which is relevant in resource-poor settings where LBC facilities are not readily available. CBs are useful in reducing indeterminate diagnoses on cytology; however, the results are not statistically significant.

Non-small cell lung carcinomas, not otherwise specified (NSCLC-NOS) with a specific signature including high-grade hepatoid/clear cell morphology, negative lung panel mutational analysis, negative TTF-1/Napsin A staining can be reported as a morphologic variant of an aggressive carcinoma with loss of one of the subunits of the SWI/SNF-chromatin complex. However, this entity is often underdiagnosed, and the specific percentages of each subunit affected remain unclear. In this study, we used immunomarkers for common major (BRG1 and BRM) and minor subunits (ARID1B, ARID1B, and ARID2) in suspicious cases in a retrospective method. Our study revealed that 90% (62 out of 69 cases) of the cases exhibiting the abovementioned signature showed loss of one of the common SWI/SNF complex subunits, with BRG1 and ARID1B being the most lost subunits. We suggest that the combination of hepatoid or clear cell cytomorphology, negative TTF1/Napsin A, and negative lung panel mutational analysis should trigger immunohistochemical examination of SWI subunits expression. The uniqueness of this study lies in the large number of cases, with their specimens obtained via cytopathological methods and immunostained with all five common SWI markers. This study contributes to the familiarity and awareness of pathologists and oncologists by highlighting the importance of cytomorphology and immunohistochemical profile of SWI/SNF-deficient NSCLC-NOS, facilitating earlier diagnosis, and may ultimately lead to more specific and novel therapeutic targets.

Goblet cell adenocarcinoma (GCA) is a rare type of appendiceal carcinoma characterized by distinct histological features. It is extremely challenging to diagnose this entity on histopathology and even arduous to identify it on effusion cytology primarily due to its rarity and lack of sufficient literature. We hereby report a unique case of a 45-year-old female presenting with abdominal pain, distension, and bilateral ovarian masses. Radiologically, she was suspected of having an ovarian primary. Ascitic fluid smears and cell block sections revealed features of a metastatic adenocarcinoma, exhibiting some distinctive cytomorphological characteristics. The patient subsequently underwent exploratory laparotomy with total abdominal hysterectomy, bilateral salpingo-oophorectomy, appendicectomy, and omentectomy. Histopathological examination of the appendix and ovarian mass showed a tumor with features of GCA. This case highlights the importance of meticulous cytological evaluation and a systematic approach to rare entities, emphasizing the need for heightened awareness of this condition to avoid misdiagnosis and optimize the treatment strategies.

Telomerase reverse transcriptase promoter (TERTp) mutations are associated with aggressive thyroid cancer and are most frequently found in anaplastic and poorly differentiated thyroid cancer. Pre-operative thyroid nodule molecular testing can detect TERTp, denoting a high risk of malignancy and possible aggressive clinical features such as extrathyroidal extension, regional lymph node metastases, and distant metastases. There are two described hot spot point mutations: the more common C228T and a C250T variant. Canonically, these mutations are mutually exclusive and drive monoallelic TERT expression. In this case series, we describe thyroid cancers where both the C228T and C250T variants were detected in preoperative thyroid nodule fine needle aspiration samples sent for Afirma molecular testing. All had co-mutations along with BRAFp.V600E or PIK3CAp.H1047R. Each sample was sent for kinship (relatedness between individuals) analysis to confirm the DNA and RNA samples were from the same patient and not due to sample cross contamination. All cases had confirmed thyroid carcinoma on histopathology after surgical resection. To our knowledge, this is the first report of dual TERTp mutations detected in the preoperative setting in thyroid carcinoma. Clinical correlation with future cases will be of interest, particularly if cases with monoallelic dual TERTp mutations are discovered.

Introduction: Desmoplastic small round cell tumor (DSRCT) is a rare malignant mesenchymal neoplasm of polyphenotypic differentiation, characterized by EWSR1-WT1 gene fusion. Despite multimodality therapy, the tumor carries poor prognosis. We report cytomorphological, immunohistochemical (IHC) and molecular features of seven cases of DSRCT from four patients.

Materials and methods: A retrospective review of cytology smears, biopsies and molecular features of cases diagnosed as DSRCT at Department of Pathology, Henry Ford Health System, and Indiana University, USA between 2016 and 2022 were performed. A total of seven cases of DSRCT from four patients were included in this study. The cytological findings were correlated with concurrent or subsequent biopsy findings.

Results: All patients were male, with age ranging from 21 to 29 years. Two patients had primary tumor in the abdomen, one in the retroperitoneum, and one in the inguinal region. The tumors measured from 7.5 to 17 cm in size. Six out of seven cases showed typical hypercellular smears of small round cells with inconspicuous nucleoli, scant cytoplasm, and rare nuclear molding. The cytomorphology in Case no. 1 was unusual, showing discohesive pleomorphic tumor cells with large irregular nuclei, prominent nucleoli, occasional binucleation, and frequent mitotic activity. A subset of tumor cells demonstrated rhabdoid features. The tumor cells were positive for keratins (dot-like), desmin, WT-1, and CD15. In Case no. 4, the immunohistochemistry for desmin and WT-1 was unusually negative reflecting the variability of the staining pattern. Three cases were positive for EWSR1 rearrangement by fluorescence in situ hybridization (FISH) and one positive for EWSR1-WTI gene fusion by reverse transcriptase-polymerase chain reaction (RT-PCR). All seven cases had concurrent/subsequent surgical pathology diagnosis consistent with DSRCT.

Conclusion: Cytologic diagnosis for DSRCT is challenging but can be achieved with appropriate cytomorphology, IHC profiles, molecular studies, and demographic information. Rare rhabdoid differentiation can occur in DSRCT and can be present in effusion cytology.

Invasive breast carcinoma of no special type constitutes the majority of breast cancers in women. Special subtypes with distinctive morphology comprise approximately 25% of breast cancers and cause diagnostic challenges. Adenoid cystic carcinoma (ADCC), a salivary gland-type carcinoma of the breast, is an exceptionally rare entity that shares morphological features and genetic mutations with its salivary gland counterpart. Both cytology and histopathological features of ADCC are unique and allow accurate diagnosis even at unusual sites, such as the breast. Basaloid cells in spherical globules, cords, and cylinders filled with eosinophilic hyaline material are diagnostic cytology findings. Histopathology shows cribriform and pseudo-cystic spaces containing hyaline material. ADCC is an indolent tumor with a good prognosis, even though it is triple-negative on immunohistochemistry. Hence, accurate diagnosis of this unusual tumor with good prognosis is crucial to prevent overtreatment of the patient. Here, we present the cyto-histopathological features and immunohistochemical findings of a rare case of adenoid cystic carcinoma of the breast and discuss its association with a radial scar, which is extremely rare.