Cytology‐Radiology Correlation Series: Thyroid cytopathology

Cancer Cytopathology · 2025-07-23 · 1 citations

Thyroid ultrasound is typically the first step in the workup of thyroid nodules. Ultrasonographic features of thyroid nodules can be used to evaluate their risk of malignancy using risk stratification systems to determine whether a nodule is suspicious enough to warrant a more invasive fine-needle aspiration (FNA) for further evaluation. For this review, the authors described and compared two major risk stratification systems, the American Thyroid Association classification system and the American College of Radiology Thyroid Imaging Reporting and Data System, and explored corresponding ultrasound and cytology findings in the thyroid for commonly encountered entities in cytopathology practice.

Diagnostic accuracy and clinical impact of renal biopsy cytology

Diagnostic Cytopathology · 2024-05-27 · 1 citations

BACKGROUND: The role of fine needle biopsy cytology in the workup of renal mass lesions remains controversial. With advances in imaging technology and clinical management for renal masses, a critical reevaluation of the role of renal biopsy is needed. This study was designed to provide a comprehensive evaluation of the performance and clinical impact of fine needle biopsy in patients with renal masses. METHODS: A 5-year retrospective study of ultrasound or computer tomography (CT)-guided fine needle biopsies of renal masses diagnosed via cytopathology was conducted. Overall diagnostic rate, sensitivity, and diagnostic accuracy were calculated. Further analysis of the impact of fine needle biopsy cytology on clinical management was performed. RESULTS: A total of 227 cases of fine-needle aspiration and/or biopsy (FNA/B) of renal masses were identified, including 76 with subsequent nephrectomies. Complications were rare (<1%). The diagnostic rate and sensitivity of FNA/B were 83.3% and 89.5%, respectively. Diagnostic accuracy was 98.7% at the major categorical level and 94.7% at the tumor subtype level. Subsequent clinical actions were associated with a definitive cytologic diagnosis of malignancy/neoplasia (p < .05) and were affected by tumor subtype (p < .05). CONCLUSION: This study demonstrates that FNA/B of renal masses is a safe and reliable minimally invasive diagnostic tool with excellent accuracy in confirmation of malignancy and subclassification of tumors. Diagnoses made on FNA/B play a key role in guiding a personalized clinical treatment plan.

227P Clinical outcomes and molecular characterization of appendiceal goblet cell adenocarcinoma in 414 patients

Annals of Oncology · 2024-06-01

Rapid 3D imaging at cellular resolution for digital cytopathology with a multi-camera array scanner (MCAS)

npj Imaging · 2024-10-01 · 11 citations

Optical microscopy has long been the standard method for diagnosis in cytopathology. Whole slide scanners can image and digitize large sample areas automatically, but are slow, expensive and therefore not widely available. Clinical diagnosis of cytology specimens is especially challenging since these samples are both spread over large areas and thick, which requires 3D capture. Here, we introduce a new parallelized microscope for scanning thick specimens across extremely wide fields-of-view (54 × 72 mm2) at 1.2 and 0.6 μm resolutions, accompanied by machine learning software to rapidly assess these 16 gigapixel scans. This Multi-Camera Array Scanner (MCAS) comprises 48 micro-cameras closely arranged to simultaneously image different areas. By capturing 624 megapixels per snapshot, the MCAS is significantly faster than most conventional whole-slide scanners. We used this system to digitize entire cytology samples (scanning three entire slides in 3D in just several minutes) and demonstrate two machine learning techniques to assist pathologists: first, an adenocarcinoma detection model in lung specimens (0.73 recall); second, a slide-level classification model of lung smears (0.969 AUC).

Abstract A001: Differential alternative RNA splicing and transcription events between Black and White prostate cancer patients involve genes promoting cancer aggressiveness and associate with patient survival

Cancer Research · 2023-06-02

Abstract Black patients suffer disproportionately from prostate cancer (PCa) progression to lethal disease compared with Asian and White patients. Comparing the molecular landscape of PCa in Black and White men has the potential to identify targets for development of new precision medicine interventions. Alternative RNA splicing and transcription events (ARS/Ts) can alter gene function. Cancer may exploit ARS/Ts to enhance proliferation, metastasis, and drug resistance. Here, we isolated RNA from fresh frozen PCa specimens and tumor-associated normal (TAN) specimens from 35 self-reported Black and 37 self-reported White patients diagnosed with Gleason-high or -low PCa and undergoing radical prostatectomy or biopsy. Analysis of follow-up clinical data for patients participating in our study show an increased hazard ratio of PCa progression among Black patients compared to White patients (HR = 2.13 and p &amp;lt; 0.05). We performed comparative transcriptomic analysis between Gleason-high or -low tumor and TAN samples among Blacks, among Whites, or between Blacks and Whites with Gleason-high or –low PCa. Among differential ARS/Ts identified between tumors and TANs among Blacks, 532 are unique to Gleason-high and 673 are unique to Gleason-low. Among differential ARS/Ts between Blacks and Whites, 360 are unique to Gleason-high and 242 are unique to Gleason-low. Interestingly, we found that even in TANs, there are 802 differential ARS/Ts between Blacks and Whites, with 459 and 343 in Gleason-high and Gleason-low, respectively. Among the genes undergoing differential ARS/Ts between Blacks and Whites are FGFR1, AKT1, H6PD, MDM2, and RAD51D in Gleason-high and CDK7 and VEGFA in Gleason-low. Notably, the number of genes undergoing ARS/Ts between Blacks and Whites with Gleason-high or -low tumors was higher than the number of genes undergoing differential aggregate gene expression between Blacks and Whites. Using gene set enrichment analysis, we found that genes undergoing ARS/Ts function in cancer relevant pathways. For example, the genes undergoing ARS/Ts between Blacks and Whites with Gleason-high or -low tumors were enriched in spermatogenesis and P53 hallmark pathways, respectively. Importantly, survival analysis shows a number of differential ARS/Ts between Blacks and Whites with Gleason-high or -low tumors are individually associated with progression-free survival. In summary, we have investigated the biology of PCa and TAN tissue between Black and White patients at the exon level. A number of genes undergoing newly identified differential ARS/Ts between Blacks and Whites are in genes reported to promote cancer aggressiveness and a number are in genes whose function in cancer was unreported prior to our findings, and a number are associated with patient progression-free survival. Our findings have identified novel targets with potential for precision oncology for PCa. Estimation of genetic ancestry of study participants and in vitro and in vivo validation of prioritized targets for PCa biology are underway. Citation Format: Muthana Al Abo, Wen-Chi Foo, Lauren Howard, Monika Anand, Daniel J. George, Steven R. Patierno, Jennifer A Freedman. Differential alternative RNA splicing and transcription events between Black and White prostate cancer patients involve genes promoting cancer aggressiveness and associate with patient survival [abstract]. In: Proceedings of the AACR Special Conference: Advances in Prostate Cancer Research; 2023 Mar 15-18; Denver, Colorado. Philadelphia (PA): AACR; Cancer Res 2023;83(11 Suppl):Abstract nr A001.

Structured approach to resolving discordance between PI-RADS v2.1 score and targeted prostate biopsy results: an opportunity for quality improvement

Abdominal Radiology · 2022-06-08 · 9 citations

Pathologist‐performed ultrasound‐guided fine‐needle aspirations of the thyroid: A single institution observational study

Cancer Cytopathology · 2022-04-28 · 8 citations

BACKGROUND: Ultrasound-guided fine-needle aspiration biopsies (USFNAs) are increasingly performed by pathologists. This study was designed to assess the diagnostic yield and characterization of thyroid nodules biopsied at a teaching hospital setting in which both attending physicians and trainees are involved in the performance of USFNAs. METHODS: A retrospective study of pathologist-performed USFNAs of thyroid cases was performed over a period of 9 years at a tertiary medical center. Data collected included patient characteristics and The Bethesda System diagnostic categories. RESULTS: Over the study period, 1531 USFNAs of thyroid nodules were performed in the pathology-based clinic, with 1209 lesions in females and 322 in males. Ninety-three percent of samples were sufficient for diagnosis (n = 1420). The majority of nodules biopsied were benign (65.4%, n = 1002). Overall, 3.1% of nodules biopsied were diagnostic of malignancy (n = 47). The number of USFNAs over the years showed a rapid increase initially, with a coronavirus disease 2019-related decrease in 2020. CONCLUSIONS: The authors report their experience with thyroid USFNA over nearly a decade. The most common diagnosis was benign and the second most common was Bethesda category III. Lesions that were diagnostic of malignancy were relatively uncommon. Over the study period, the results showed that at a large tertiary care center in which USFNAs were performed by trainees as well as attending physicians, the diagnostic yield was good with a majority of thyroid nodules biopsied associated with a definitive diagnosis.

Abstract PO-137: Comparative transcriptomic analysis of prostate cancer from African American and Caucasian American men by Gleason score and race

Cancer Epidemiology Biomarkers & Prevention · 2022-01-01

Abstract African American (AA) men exhibit 2-3 times higher mortality from prostate cancer compared with Caucasian American (CA) men. Factors contributing to the disparity include societal-, neighborhood- and institutional-level determinants of health. In addition, a number of studies have reported individual-level ancestry-related biological differences, including in mutations, copy number variation, aggregate gene expression and response to treatment between AA and CA prostate cancer patients. Previously, by comparing the transcriptome between 20 AA and 15 CA prostate cancer patients, we identified a large number of race-related Alternative RNA Splicing (ARS) events. Among these, we further demonstrated that an exon skipping event involving exon 20 within PIK3CD increased tumor growth rate, metastatic potential and drug resistance in prostate cancer. To expand our previous findings, we collected non-neoplastic and tumor-paired tissue from 37 AA and 40 CA prostate cancer patients with different Gleason score categories: 14 high grade (4 AA and 10 CA), 22 low grade (10 AA and 12 CA), and 41 intermediate grade (23 AA and 18 CA). DNA and RNA were isolated for ancestral genotyping and RNA seq analysis, respectively. To achieve RNA sequencing depth adequate for ARS analysis, we performed RNA seq of 150 bp paired-end and an average of 5 × 106 reads per sample. The read alignment was done using Star 2 TwoPass pipeline. The rMATS pipeline was used for ARS annotation and quantification. We identified 105,403 ARS events, including 60,657 exon skipping, 17,439 alternative acceptor, 12,737 alternative donor, 9,555 retained intron and 5,015 mutually exclusive exon. Using the Wilcoxon rank-sum test, we compared the Percent Spliced In (PSI) between AA and CA of the same Gleason score category and identified ARS events exhibiting ΔPSI &amp;gt; 15% and p-value &amp;lt; 0.05. Specifically, we identified 536 race-related ARS events in high grade, 492 race-related ARS events in low grade, and 447 race-related ARS events in intermediate grade. Gene Ontology analysis demonstrated that the genes undergoing race-related ARS events function in cellular processes relevant to cancer biology, including metabolic processes in low grade, NF-kappaB signaling in intermediate grade and cell motility in high grade. Specific examples of these genes include ERG and PARP2 in high grade, KLK2 and DNMT1 in intermediate grade, and AURKA and SEMA3A in low grade. These findings support a potential role for the ARS process in diversifying gene expression, potentially contributing to prostate cancer aggressiveness in AA patients. The race-related ARS events identified in our work represent potential biomarkers and/or therapeutic targets for precision oncology in the context of prostate cancer. Further analysis of the function of prioritized race-related ARS events and their association with local ancestry is ongoing. Funding: DoD Prostate Cancer Research Program Health Disparity Research Award. NIH Basic Research in Cancer Health Disparities R01 Award. Prostate Cancer Foundation Movember Challenge Award. Citation Format: Muthana Al Abo, Wen-Chi Foo, Daniel J. George, Steven R. Patierno, Jennifer A. Freedman. Comparative transcriptomic analysis of prostate cancer from African American and Caucasian American men by Gleason score and race [abstract]. In: Proceedings of the AACR Virtual Conference: 14th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2021 Oct 6-8. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2022;31(1 Suppl):Abstract nr PO-137.

Pathologist‐performed ultrasound‐guided fine needle aspiration biopsies of extrathyroidal sites: An observational study

Diagnostic Cytopathology · 2022-11-24 · 2 citations

BACKGROUND: Pathologist-performed ultrasound-guided fine needle aspiration (USFNA) biopsies have become an increasingly important component of the interventional cytopathologist's toolbox. However, its application varies between institutions, and there is limited literature describing its performance characteristics when utilized in extrathyroidal sites. Here we review our institutional experience within our pathologist-run FNA clinic. METHODS: A retrospective review was conducted of pathologist-performed USFNAs of extrathyroidal sites over a 9-year period. Data collected included lesion site, size, patient age, patient gender, diagnostic category, and corresponding results from surgical resection when available. The diagnosis on surgical resection was considered the gold standard for determining discordance rates. RESULTS: A total of 143 pathologist-performed USFNAs of extrathyroidal lesions were performed from October 2011 to October 2020. These encompassed a wide range of sites, with most biopsies from the head and neck. The mean recorded size was 2.2 cm, with a range of 0.6-6 cm. Larger lesions (over 2 cm) were more likely to be noted in challenging locations, demonstrate difficult features, or be cystic. Most (n = 133) biopsies were sufficient for diagnosis, with a non-diagnostic rate of 7% (n = 10). Accuracy when compared to subsequent surgical resection was high, with sensitivity of 89%, specificity of 93%, positive predictive value of 94%, and negative predictive value of 87%. CONCLUSION: Our experience supports that pathologist-performed USFNA of extrathyroidal lesions-even those with challenging features-can result in excellent diagnostic yield and accuracy. The addition of USFNA to the interventional cytopathologists' repertoire can be a valuable tool to enhance patient care.

Teaching interventional cytopathology

Seminars in Diagnostic Pathology · 2022-01-13 · 7 citations