A standardized reporting system for bone and soft tissue tumor cytopathology has not yet been established. The objective of this study was to explore the potential utility of a classification modified from the Milan System for Salivary Gland Cytopathology and compared it with the upcoming World Health Organization (WHO) system for fine-needle aspiration of soft tissue lesions.
Methods
The authors reviewed 285 cytology cases of bone/joint (n = 173) and soft tissue (n = 112) lesions, scoring each within diagnostic categories. The results were compared with histologic diagnoses and the risk of malignancy (ROM) for each category, and diagnostic reliability was analyzed.
Results
All 285 cases were successfully classified into one of the following categories: nondiagnostic (6.3%), non-neoplastic (11.9%), atypia of uncertain significance (11.9%), benign neoplasm (5.6%), bone and soft tissue neoplasm of uncertain malignant potential (25.3%), suspicious for malignancy (1.4%), and malignant (37.5%). The ROM was 44.4% (eight of /18 cases) in nondiagnostic, 0% (zero of 34 cases) in non-neoplastic, 32.4% (11 of 34 cases) in atypia of uncertain significance, 0% (zero of 16 cases) in benign neoplasm, 16.7% (12 of 72 cases) in bone and soft tissue neoplasm of uncertain malignant potential, 75.0% (three of four cases) in suspicious for malignancy, and 100% (107 of 107 cases) in malignant categories. Using the WHO system, the proportion and ROM of the benign category (non-neoplastic and benign neoplasm) was 17.5% and 0%, respectively. Among benign and malignant lesions, the diagnostic accuracy, sensitivity, and specificity for detecting malignancy were 99.4%, 100%, and 98.0%, respectively.
Conclusions
The modified Milan system as well as the WHO system may be a useful cytopathologic classification tool for both bone and soft tissue lesions.
背景：骨与软组织肿瘤细胞病理学的标准化报告系统尚未建立。本研究的目的是探索从米兰唾液腺细胞病理学系统修改而来的分类方法的潜在效用，并将其与世界卫生组织（WHO）即将推出的软组织病变细针穿刺系统进行比较：作者回顾了285例骨/关节（173例）和软组织（112例）病变的细胞学病例，在诊断类别内对每个病例进行评分。将结果与组织学诊断和每个类别的恶性肿瘤风险（ROM）进行了比较，并分析了诊断的可靠性：所有 285 个病例均被成功归入以下类别之一：无诊断性（6.3%）、非肿瘤性（11.9%）、意义不明的不典型性（11.9%）、良性肿瘤（5.6%）、恶性可能性不明的骨与软组织肿瘤（25.3%）、恶性可疑（1.4%）和恶性（37.5%）。ROM中，44.4%（18例中的8例）为非诊断性，0%（34例中的0例）为非肿瘤性，32.4%（34例中的11例）为意义不明的不典型性，0%（16例中的0例）为良性肿瘤，16.7%（72例中的12例）为恶性程度不确定的骨与软组织肿瘤，75.0%（4例中的3例）为恶性可疑，100%（107例中的107例）为恶性肿瘤。根据世界卫生组织的系统，良性类别（非肿瘤和良性肿瘤）的比例和 ROM 分别为 17.5%和 0%。在良性和恶性病变中，检测恶性肿瘤的诊断准确性、敏感性和特异性分别为 99.4%、100% 和 98.0%：结论：改良米兰系统和世界卫生组织系统可能是骨和软组织病变的有用细胞病理学分类工具。
{"title":"Reappraisal of bone and soft tissue cytopathology classification using the modified Milan system","authors":"Masaki Naka CT, PhD, Hidetaka Yamamoto MD, PhD, Kenichi Kohashi MD, PhD, Takeshi Iwasaki MD, PhD, Taro Mori MD, PhD, Miwako Nogami CT, Fumihiko Ookubo CT, Kayoko Higuchi MD, PhD, Toru Motoi MD, PhD, Yoshinao Oda MD, PhD","doi":"10.1002/cncy.22888","DOIUrl":"10.1002/cncy.22888","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>A standardized reporting system for bone and soft tissue tumor cytopathology has not yet been established. The objective of this study was to explore the potential utility of a classification modified from the Milan System for Salivary Gland Cytopathology and compared it with the upcoming World Health Organization (WHO) system for fine-needle aspiration of soft tissue lesions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The authors reviewed 285 cytology cases of bone/joint (<i>n</i> = 173) and soft tissue (<i>n</i> = 112) lesions, scoring each within diagnostic categories. The results were compared with histologic diagnoses and the risk of malignancy (ROM) for each category, and diagnostic reliability was analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>All 285 cases were successfully classified into one of the following categories: nondiagnostic (6.3%), non-neoplastic (11.9%), atypia of uncertain significance (11.9%), benign neoplasm (5.6%), bone and soft tissue neoplasm of uncertain malignant potential (25.3%), suspicious for malignancy (1.4%), and malignant (37.5%). The ROM was 44.4% (eight of /18 cases) in nondiagnostic, 0% (zero of 34 cases) in non-neoplastic, 32.4% (11 of 34 cases) in atypia of uncertain significance, 0% (zero of 16 cases) in benign neoplasm, 16.7% (12 of 72 cases) in bone and soft tissue neoplasm of uncertain malignant potential, 75.0% (three of four cases) in suspicious for malignancy, and 100% (107 of 107 cases) in malignant categories. Using the WHO system, the proportion and ROM of the benign category (non-neoplastic and benign neoplasm) was 17.5% and 0%, respectively. Among benign and malignant lesions, the diagnostic accuracy, sensitivity, and specificity for detecting malignancy were 99.4%, 100%, and 98.0%, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The modified Milan system as well as the WHO system may be a useful cytopathologic classification tool for both bone and soft tissue lesions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 11","pages":"696-706"},"PeriodicalIF":2.6,"publicationDate":"2024-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22888","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rachelle P. Mendoza MD, Emily Symes MD, Peng Wang MD, PhD, Cole Miller MS, Stephanie C. Thompson MD, Tatjana Antic MD, Anna Biernacka MD, PhD
Background
Spindle cell carcinoid tumor (SCCT) is a rare variant of lung carcinoid tumor consisting predominantly or exclusively of spindle cells. To the authors' knowledge, this is the first study to date investigating the molecular characteristics of SCCTs.
Methods
Eighty-five carcinoid tumors initially diagnosed by fine-needle aspiration over a period of 10 years were reviewed. The final diagnostic classification was based on resection specimens. Six SCCTs were identified and characterized based on cytomorphology, and immunohistochemical and molecular features.
Results
Most patients with SCCT were Caucasian (100.0%), women (83.3%), asymptomatic (66.7%), and nonsmokers (83.3%). The median age at diagnosis was 78.0 years (range, 58.2–80.3 years). A higher proportion of patients who had SCCT were diagnosed with distant metastasis. The smears were cellular and demonstrated clean backgrounds without necrosis or mitotic activity. SCCTs comprised of bipolar-to-elongated cells with finely granular chromatin, inconspicuous nucleoli, scant cytoplasm, and minimal atypia or pleomorphism. The tumor cells sometimes appeared boomerang-shaped and might mimic granulomas or blood vessels. SCCTs showed strong expression for pan-cytokeratin, synaptophysin, chromogranin, and CD56, with weak TTF-1 and a very low Ki-67 proliferation index. All SCCTs had low tumor mutational burden and were microsatellite-stable. One case showed multiple whole-gene losses in chromosome 11, whereas another harbored duplication in ARID1A. Two cases demonstrated gains in chromosomes 17, one of which also showed gains in chromosome 18. None had a single nucleotide mutation.
Conclusions
SCCT is a rare subset of lung carcinoid tumors. These tumors harbor unique cytologic, prognostic, and molecular features that may have significant diagnostic and clinical implications.
{"title":"Cytomorphologic and molecular characterization of spindle cell carcinoid tumors of the lung","authors":"Rachelle P. Mendoza MD, Emily Symes MD, Peng Wang MD, PhD, Cole Miller MS, Stephanie C. Thompson MD, Tatjana Antic MD, Anna Biernacka MD, PhD","doi":"10.1002/cncy.22886","DOIUrl":"10.1002/cncy.22886","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Spindle cell carcinoid tumor (SCCT) is a rare variant of lung carcinoid tumor consisting predominantly or exclusively of spindle cells. To the authors' knowledge, this is the first study to date investigating the molecular characteristics of SCCTs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Eighty-five carcinoid tumors initially diagnosed by fine-needle aspiration over a period of 10 years were reviewed. The final diagnostic classification was based on resection specimens. Six SCCTs were identified and characterized based on cytomorphology, and immunohistochemical and molecular features.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Most patients with SCCT were Caucasian (100.0%), women (83.3%), asymptomatic (66.7%), and nonsmokers (83.3%). The median age at diagnosis was 78.0 years (range, 58.2–80.3 years). A higher proportion of patients who had SCCT were diagnosed with distant metastasis. The smears were cellular and demonstrated clean backgrounds without necrosis or mitotic activity. SCCTs comprised of bipolar-to-elongated cells with finely granular chromatin, inconspicuous nucleoli, scant cytoplasm, and minimal atypia or pleomorphism. The tumor cells sometimes appeared <i>boomerang-shaped</i> and might mimic granulomas or blood vessels. SCCTs showed strong expression for pan-cytokeratin, synaptophysin, chromogranin, and CD56, with weak TTF-1 and a very low Ki-67 proliferation index. All SCCTs had low tumor mutational burden and were microsatellite-stable. One case showed multiple whole-gene losses in chromosome 11, whereas another harbored duplication in <i>ARID1A</i>. Two cases demonstrated gains in chromosomes 17, one of which also showed gains in chromosome 18. None had a single nucleotide mutation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>SCCT is a rare subset of lung carcinoid tumors. These tumors harbor unique cytologic, prognostic, and molecular features that may have significant diagnostic and clinical implications.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 10","pages":"656-665"},"PeriodicalIF":2.6,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22886","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Thyroid nodules and cancer: The search for certainty","authors":"Pamela Hartzband MD","doi":"10.1002/cncy.22882","DOIUrl":"10.1002/cncy.22882","url":null,"abstract":"","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 12","pages":"738-740"},"PeriodicalIF":2.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Henri Lagerstam BMed, Erkka Tommola MD, Saara Kares MSc, Ivana Kholová MD, PhD, MIAC
Background
The objective of this study was to evaluate the diagnostic performance of the category atypia of undetermined significance (AUS) at the authors' institution based on the Milan System for Reporting Salivary Gland Cytopathology.
Methods
All AUS cases diagnosed at Fimlab Laboratories between January 1, 2018, and December 31, 2022, were included. Histologic verifications were checked until May 31, 2023. The upper-bound and lower-bound risk of malignancy and risk of neoplasm were calculated. The timelines between the pathology laboratory workflow and patient management were also calculated.
Results
From 1157 fine-needle aspirations (FNAs), 162 (14.0%) AUS cases were diagnosed in 146 patients, with an average ± standard deviation age of 66.1 ± 14.9 years. There was variation in the AUS percentages, with higher values during the coronavirus disease 2019 pandemic years (15% and 17.5% in 2020 and 2021, respectively). Seventy-five cases (46.3%) had histologic follow-up: 16 were malignant neoplasms, and 36 were benign neoplasms. The upper and the lower bounds of the-risk of malignancy and risk of neoplasm were 21.3% and 69.3% and 9.9% and 32.1%, respectively. The average time from the first FNA with an AUS diagnosis to surgical resection ranged from 6 to 682 days, and the time to the first repeat FNA ranged from 10 to 691 days.
Conclusions
The results indicated higher percentages of AUS cases compared with the reference value, which may be attributed to the impact of the coronavirus disease 2019 pandemic. The risk of malignancy calculated in this study was closer to the reference value from the first edition of the Milan System for Reporting Salivary Gland Cytopathology compared with the second edition.
{"title":"The Milan system atypia of undetermined significance: 5-year performance data","authors":"Henri Lagerstam BMed, Erkka Tommola MD, Saara Kares MSc, Ivana Kholová MD, PhD, MIAC","doi":"10.1002/cncy.22883","DOIUrl":"10.1002/cncy.22883","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The objective of this study was to evaluate the diagnostic performance of the category <i>atypia of undetermined significance</i> (AUS) at the authors' institution based on the Milan System for Reporting Salivary Gland Cytopathology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>All AUS cases diagnosed at Fimlab Laboratories between January 1, 2018, and December 31, 2022, were included. Histologic verifications were checked until May 31, 2023. The upper-bound and lower-bound risk of malignancy and risk of neoplasm were calculated. The timelines between the pathology laboratory workflow and patient management were also calculated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>From 1157 fine-needle aspirations (FNAs), 162 (14.0%) AUS cases were diagnosed in 146 patients, with an average ± standard deviation age of 66.1 ± 14.9 years. There was variation in the AUS percentages, with higher values during the coronavirus disease 2019 pandemic years (15% and 17.5% in 2020 and 2021, respectively). Seventy-five cases (46.3%) had histologic follow-up: 16 were malignant neoplasms, and 36 were benign neoplasms. The upper and the lower bounds of the-risk of malignancy and risk of neoplasm were 21.3% and 69.3% and 9.9% and 32.1%, respectively. The average time from the first FNA with an AUS diagnosis to surgical resection ranged from 6 to 682 days, and the time to the first repeat FNA ranged from 10 to 691 days.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The results indicated higher percentages of AUS cases compared with the reference value, which may be attributed to the impact of the coronavirus disease 2019 pandemic. The risk of malignancy calculated in this study was closer to the reference value from the first edition of the Milan System for Reporting Salivary Gland Cytopathology compared with the second edition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 10","pages":"646-655"},"PeriodicalIF":2.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22883","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603310","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study evaluated the diagnostic effectiveness of the AIxURO platform, an artificial intelligence–based tool, to support urine cytology for bladder cancer management, which typically requires experienced cytopathologists and substantial diagnosis time.
Methods
One cytopathologist and two cytotechnologists reviewed 116 urine cytology slides and corresponding whole-slide images (WSIs) from urology patients. They used three diagnostic modalities: microscopy, WSI review, and AIxURO, per The Paris System for Reporting Urinary Cytology (TPS) criteria. Performance metrics, including TPS-guided and binary diagnosis, inter- and intraobserver agreement, and screening time, were compared across all methods and reviewers.
Results
AIxURO improved diagnostic accuracy by increasing sensitivity (from 25.0%–30.6% to 63.9%), positive predictive value (PPV; from 21.6%–24.3% to 31.1%), and negative predictive value (NPV; from 91.3%–91.6% to 95.3%) for atypical urothelial cell (AUC) cases. For suspicious for high-grade urothelial carcinoma (SHGUC) cases, it improved sensitivity (from 15.2%–27.3% to 33.3%), PPV (from 31.3%–47.4% to 61.1%), and NPV (from 91.6%–92.7% to 93.3%). Binary diagnoses exhibited an improvement in sensitivity (from 77.8%–82.2% to 90.0%) and NPV (from 91.7%–93.4% to 95.8%). Interobserver agreement across all methods showed moderate consistency (κ = 0.57–0.61), with the cytopathologist demonstrating higher intraobserver agreement than the two cytotechnologists across the methods (κ = 0.75–0.88). AIxURO significantly reduced screening time by 52.3%–83.2% from microscopy and 43.6%–86.7% from WSI review across all reviewers. Screening-positive (AUC+) cases required more time than negative cases across all methods and reviewers.
Conclusions
AIxURO demonstrates the potential to improve both sensitivity and efficiency in bladder cancer diagnostics via urine cytology. Its integration into the cytopathological screening workflow could markedly decrease screening times, which would improve overall diagnostic processes.
{"title":"Evaluating artificial intelligence–enhanced digital urine cytology for bladder cancer diagnosis","authors":"Tien-Jen Liu, Wen-Chi Yang, Shin-Min Huang, Wei-Lei Yang, Hsing-Ju Wu, Hui Wen Ho, Shih-Wen Hsu, Cheng-Hung Yeh, Ming-Yu Lin, Yi-Ting Hwang, Pei-Yi Chu MD, PhD","doi":"10.1002/cncy.22884","DOIUrl":"10.1002/cncy.22884","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study evaluated the diagnostic effectiveness of the AIxURO platform, an artificial intelligence–based tool, to support urine cytology for bladder cancer management, which typically requires experienced cytopathologists and substantial diagnosis time.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>One cytopathologist and two cytotechnologists reviewed 116 urine cytology slides and corresponding whole-slide images (WSIs) from urology patients. They used three diagnostic modalities: microscopy, WSI review, and AIxURO, per The Paris System for Reporting Urinary Cytology (TPS) criteria. Performance metrics, including TPS-guided and binary diagnosis, inter- and intraobserver agreement, and screening time, were compared across all methods and reviewers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>AIxURO improved diagnostic accuracy by increasing sensitivity (from 25.0%–30.6% to 63.9%), positive predictive value (PPV; from 21.6%–24.3% to 31.1%), and negative predictive value (NPV; from 91.3%–91.6% to 95.3%) for atypical urothelial cell (AUC) cases. For suspicious for high-grade urothelial carcinoma (SHGUC) cases, it improved sensitivity (from 15.2%–27.3% to 33.3%), PPV (from 31.3%–47.4% to 61.1%), and NPV (from 91.6%–92.7% to 93.3%). Binary diagnoses exhibited an improvement in sensitivity (from 77.8%–82.2% to 90.0%) and NPV (from 91.7%–93.4% to 95.8%). Interobserver agreement across all methods showed moderate consistency (κ = 0.57–0.61), with the cytopathologist demonstrating higher intraobserver agreement than the two cytotechnologists across the methods (κ = 0.75–0.88). AIxURO significantly reduced screening time by 52.3%–83.2% from microscopy and 43.6%–86.7% from WSI review across all reviewers. Screening-positive (AUC+) cases required more time than negative cases across all methods and reviewers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>AIxURO demonstrates the potential to improve both sensitivity and efficiency in bladder cancer diagnostics via urine cytology. Its integration into the cytopathological screening workflow could markedly decrease screening times, which would improve overall diagnostic processes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 11","pages":"686-695"},"PeriodicalIF":2.6,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22884","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141603309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
<p>Every year, roughly 1500–2000 women in the United States are diagnosed with a rare set of ovarian cancers known as granulosa cell tumors (GCTs), which carry a high risk of recurrence. Another 1300 individuals are diagnosed with adenoid cystic carcinomas (ACCs), which arise primarily in the salivary glands, commonly invade nerves, and metastasize to distant sites such as the lungs in approximately half of all cases.</p><p>Both cancers are rare enough that patients often struggled to connect with others facing the same malignancy until social media platforms such as Facebook helped them to connect through patient support groups. Such groups, in turn, have become critical resources for research efforts seeking to better understand the diseases and improve patient outcomes.</p><p>Amid the spate of recent warnings about the dangers of social media, including rampant misinformation, online groups have become the main vehicle for connecting patients and families affected by rare diseases. Physicians now regularly recommend Facebook groups to their patients, says Meghan Halley, PhD, MPH, a senior research scholar at the Stanford Center for Biomedical Ethics in Palo Alto, California. “It’s often the largest gathering of any patients with a particular very rare disease that’s available,” she says. “The extent to which the rare disease community has leveraged social media to identify other patients, share information, and provide social support is one of the few bastions of really good news in the social media space.”</p><p>Researchers have made good use of the space as well. In collaboration with the Granulosa Cell Tumor Survivor Sisters Facebook group, for example, a recent study based on an online survey of 743 patients revealed that 30% of respondents had recurrent disease, with one third of those recurrences occurring within 5 years of diagnosis.<span><sup>1</sup></span> The study represented one of the largest surveys yet of GCT patients’ treatment experiences. “Using naturally forming consumer groups may assist with developing the evidence base for care and supporting those living with GCT ovarian cancer,” the authors concluded.</p><p>Bioethicists such as Dr Halley, however, also have urged caution when relying on social media for bolstering research efforts. In a review of 120 social media–aided studies on rare noncancer diseases, she and her colleagues found that more than half relied exclusively on surveys, and the patient demographics, when reported, skewed toward female and White participants. “Despite its potential benefits in rare disease research, the use of social media is still methodologically limited, and the participants reached may not be representative of the rare disease population by gender, race, age, or rare disease type,” wrote the researchers.<span><sup>2</sup></span></p><p>Rare cancers are tracked, in part, through the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) program. Classification, thou
{"title":"The power and pitfalls of using social media to study rare cancers","authors":"Bryn Nelson PhD, William Faquin MD, PhD","doi":"10.1002/cncy.22879","DOIUrl":"10.1002/cncy.22879","url":null,"abstract":"<p>Every year, roughly 1500–2000 women in the United States are diagnosed with a rare set of ovarian cancers known as granulosa cell tumors (GCTs), which carry a high risk of recurrence. Another 1300 individuals are diagnosed with adenoid cystic carcinomas (ACCs), which arise primarily in the salivary glands, commonly invade nerves, and metastasize to distant sites such as the lungs in approximately half of all cases.</p><p>Both cancers are rare enough that patients often struggled to connect with others facing the same malignancy until social media platforms such as Facebook helped them to connect through patient support groups. Such groups, in turn, have become critical resources for research efforts seeking to better understand the diseases and improve patient outcomes.</p><p>Amid the spate of recent warnings about the dangers of social media, including rampant misinformation, online groups have become the main vehicle for connecting patients and families affected by rare diseases. Physicians now regularly recommend Facebook groups to their patients, says Meghan Halley, PhD, MPH, a senior research scholar at the Stanford Center for Biomedical Ethics in Palo Alto, California. “It’s often the largest gathering of any patients with a particular very rare disease that’s available,” she says. “The extent to which the rare disease community has leveraged social media to identify other patients, share information, and provide social support is one of the few bastions of really good news in the social media space.”</p><p>Researchers have made good use of the space as well. In collaboration with the Granulosa Cell Tumor Survivor Sisters Facebook group, for example, a recent study based on an online survey of 743 patients revealed that 30% of respondents had recurrent disease, with one third of those recurrences occurring within 5 years of diagnosis.<span><sup>1</sup></span> The study represented one of the largest surveys yet of GCT patients’ treatment experiences. “Using naturally forming consumer groups may assist with developing the evidence base for care and supporting those living with GCT ovarian cancer,” the authors concluded.</p><p>Bioethicists such as Dr Halley, however, also have urged caution when relying on social media for bolstering research efforts. In a review of 120 social media–aided studies on rare noncancer diseases, she and her colleagues found that more than half relied exclusively on surveys, and the patient demographics, when reported, skewed toward female and White participants. “Despite its potential benefits in rare disease research, the use of social media is still methodologically limited, and the participants reached may not be representative of the rare disease population by gender, race, age, or rare disease type,” wrote the researchers.<span><sup>2</sup></span></p><p>Rare cancers are tracked, in part, through the National Cancer Institute’s Surveillance, Epidemiology, and End Results (SEER) program. Classification, thou","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 7","pages":"391-392"},"PeriodicalIF":2.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22879","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
T. Leif Helland MD, Adam S. Fisch MD, PhD, Ivan Chebib MD
Background
Fine-needle aspiration specimens from soft tissue tumors are complicated by lack of tissue architecture and limited material for ancillary testing. There are little data on the feasibility of next-generation sequencing techniques for fusion detection on soft tissue cytology specimens. This study explored the role of an anchored multiplex polymerase chain reaction (PCR)-based gene fusion assay in aiding the diagnosis of mesenchymal neoplasms on cytology samples.
Methods
The laboratory information system was queried for cytology specimens that had undergone testing by anchored multiplex PCR. After exclusion of epithelial and hematolymphoid neoplasms, clinical and pathologic information was collected on the remaining cases.
Results
There were 1609 cytology specimens tested with anchored multiplex PCR. Of these, 48 (3%) were cytology specimens from mesenchymal tumors. Anchored multiplex PCR was positive for a reportable fusion transcript in 14 of 48 cases (29%); there was no fusion detected in 32 cases (67%), and there was insufficient tissue for analysis in two cases (4%). The detectable fusion partners included ALK (n = 4), STAT6 (n = 4), EWSR1 (n = 3), and one each of SS18, YAP1, and PHF1. Of the cases in which a fusion partner was detected, eight of 14 were disease-defining on cytology preparation, and six of 14 provided molecular confirmation of a metastatic focus of a previously diagnosed tumor.
Conclusions
The anchored, multiplex PCR-based gene fusion assay is a powerful orthogonal tool in helping diagnose mesenchymal neoplasms on cytology specimens. The material obtained for cytologic analysis yields sufficient quality/quantity of tissue in the majority of cases tested.
{"title":"Utility of an anchored multiplex polymerase chain reaction-based fusion assay for diagnosis of soft tissue tumors in cytology","authors":"T. Leif Helland MD, Adam S. Fisch MD, PhD, Ivan Chebib MD","doi":"10.1002/cncy.22881","DOIUrl":"10.1002/cncy.22881","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fine-needle aspiration specimens from soft tissue tumors are complicated by lack of tissue architecture and limited material for ancillary testing. There are little data on the feasibility of next-generation sequencing techniques for fusion detection on soft tissue cytology specimens. This study explored the role of an anchored multiplex polymerase chain reaction (PCR)-based gene fusion assay in aiding the diagnosis of mesenchymal neoplasms on cytology samples.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The laboratory information system was queried for cytology specimens that had undergone testing by anchored multiplex PCR. After exclusion of epithelial and hematolymphoid neoplasms, clinical and pathologic information was collected on the remaining cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 1609 cytology specimens tested with anchored multiplex PCR. Of these, 48 (3%) were cytology specimens from mesenchymal tumors. Anchored multiplex PCR was positive for a reportable fusion transcript in 14 of 48 cases (29%); there was no fusion detected in 32 cases (67%), and there was insufficient tissue for analysis in two cases (4%). The detectable fusion partners included <i>ALK</i> (<i>n</i> = 4), <i>STAT6</i> (<i>n</i> = 4), <i>EWSR1</i> (<i>n</i> = 3), and one each of <i>SS18</i>, <i>YAP1</i>, and <i>PHF1</i>. Of the cases in which a fusion partner was detected, eight of 14 were disease-defining on cytology preparation, and six of 14 provided molecular confirmation of a metastatic focus of a previously diagnosed tumor.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The anchored, multiplex PCR-based gene fusion assay is a powerful orthogonal tool in helping diagnose mesenchymal neoplasms on cytology specimens. The material obtained for cytologic analysis yields sufficient quality/quantity of tissue in the majority of cases tested.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 9","pages":"580-587"},"PeriodicalIF":2.6,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The World Health Organization (WHO) classification system revised the Papanicolaou Society of Cytopathology (PSC) system for reporting pancreaticobiliary cytopathology. To better stratify intraductal and/or cystic neoplasms by cytologic grade, the neoplastic, other category was replaced by two new categories: pancreaticobiliary neoplasm, low-risk/grade(PaN-Low) and pancreaticobiliary neoplasm, high-risk/grade(PaN-High). Low-grade malignancies were placed in the malignant category, and benign neoplasms were placed in the benign/negative for malignancy category.
Methods
An institutional pathology database search identified patients who underwent endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) for pancreatic lesions from January 2015 to April 2022. The absolute risk of malignancy (ROM) was determined by histologic and/or clinical follow-up of at least 6 months, and overall survival rates were calculated across diagnostic categories, comparing the WHO and PSC systems.
Results
In total, 1012 cases were reviewed and recategorized. The ROM for the WHO system was 8.3% for insufficient/inadequate/nondiagnostic, 3.2% for benign/negative for malignancy, 24.6% for atypical, 9.1% for PaN-Low, 46.7% for PaN-High, 75% for suspicious for malignancy, and 100% for malignant. Comparatively, the ROM for the PSC system was 7.4% for nondiagnostic, 3.0% for negative for malignancy, 23.1% for atypical, 0% for neoplastic, benign, 7.3% for neoplastic, other, 75% for suspicious for malignancy, and 100% for malignant. The WHO system demonstrated superior stratification for overall survival.
Conclusions
The WHO system significantly improves the stratification of ROM and overall survival across diagnostic categories by introducing the PaN-Low and PaN-High categories and reassigning low-grade malignancies to the malignant category. Analyzing EUS-FNA samples with the WHO system provides critical insights for guiding clinical management.
{"title":"Risk of malignancy and overall survival associated with the diagnostic categories in the World Health Organization Reporting System for Pancreaticobiliary Cytopathology","authors":"Wen-Yu Hsiao MD, PhD, Qun Wang MD, PhD","doi":"10.1002/cncy.22880","DOIUrl":"10.1002/cncy.22880","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The World Health Organization (WHO) classification system revised the Papanicolaou Society of Cytopathology (PSC) system for reporting pancreaticobiliary cytopathology. To better stratify intraductal and/or cystic neoplasms by cytologic grade, the <i>neoplastic, other</i> category was replaced by two new categories: <i>pancreaticobiliary neoplasm, low-risk/grade</i> <i>(PaN-Low)</i> and <i>pancreaticobiliary neoplasm, high-risk/grade</i> <i>(PaN-High)</i>. Low-grade malignancies were placed in the <i>malignant</i> category, and benign neoplasms were placed in the <i>benign/negative for malignancy</i> category.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An institutional pathology database search identified patients who underwent endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) for pancreatic lesions from January 2015 to April 2022. The absolute risk of malignancy (ROM) was determined by histologic and/or clinical follow-up of at least 6 months, and overall survival rates were calculated across diagnostic categories, comparing the WHO and PSC systems.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In total, 1012 cases were reviewed and recategorized. The ROM for the WHO system was 8.3% for <i>insufficient/inadequate/nondiagnostic</i>, 3.2% for <i>benign/negative for malignancy</i>, 24.6% for <i>atypical</i>, 9.1% for <i>PaN-Low</i>, 46.7% for <i>PaN-High</i>, 75% for <i>suspicious for malignancy</i>, and 100% for <i>malignant</i>. Comparatively, the ROM for the PSC system was 7.4% for <i>nondiagnostic</i>, 3.0% for <i>negative for malignancy</i>, 23.1% for <i>atypical</i>, 0% for <i>neoplastic, benign</i>, 7.3% for <i>neoplastic, other</i>, 75% for <i>suspicious for malignancy</i>, and 100% for <i>malignant</i>. The WHO system demonstrated superior stratification for overall survival.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The WHO system significantly improves the stratification of ROM and overall survival across diagnostic categories by introducing the <i>PaN-Low</i> and <i>PaN-High</i> categories and reassigning low-grade malignancies to the <i>malignant</i> category. Analyzing EUS-FNA samples with the WHO system provides critical insights for guiding clinical management.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 10","pages":"635-645"},"PeriodicalIF":2.6,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rapid on-site evaluation of FNA biopsies and rapid interpretation of core biopsy touch preparation slides: Correct utilization of current procedural terminology codes","authors":"Swati Mehrotra MD, Carol A. Filomena MD","doi":"10.1002/cncy.22878","DOIUrl":"10.1002/cncy.22878","url":null,"abstract":"","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 12","pages":"741-744"},"PeriodicalIF":2.6,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141549355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Raquel A. Perry BS, Megan F. Lee MD, Rachel C. Jug MB, BCh, BAO, Rajesh C. Dash MD, Daniel J. Rocke MD, JD, Xiaoyin “Sara” Jiang MD
Background
Molecular testing of thyroid nodules is an essential tool to help risk stratify nodules with indeterminate cytology. Although ThyroSeq testing has been around for over a decade, there is a paucity of long-term follow-up data on cytologically indeterminate nodules that are determined to be molecularly negative or low-risk. The objective of this study is to assess the outcomes of nodules with indeterminate cytology (Bethesda III or IV) and negative or low-risk ThyroSeq results.
Methods
This is a single academic institution retrospective cohort study. Patients with at least one thyroid nodule sampled with fine-needle aspiration who underwent ThyroSeq testing from 2012 to 2018 and had negative or low-risk ThyroSeq results on a cytologically indeterminate sample (n = 159 patients, 167 nodules) were included in the study. Outcomes include the false-negative rate and negative predictive value of each test version, as well as follow-up length for each nodule.
Results
There were 159 patients with a mean age of 58 years (7–84 years) included in this study; the majority were female (81.8%). The mean follow-up was 4.0 years. Of 167 nodules, three were found to be malignant on resection (1.8%). The negative predictive value for the entire cohort was 98.2% and it was 89.3% for the surgical series.
Conclusion
ThyroSeq testing has good negative predictive value and can help risk stratify cytologically indeterminate nodules. Routine follow-up allows for safe monitoring of nodules for features suggestive of malignancy.
背景甲状腺结节的分子检测是帮助对细胞学不确定的结节进行风险分层的重要工具。尽管ThyroSeq检测已经存在了十多年，但关于细胞学不确定结节的长期随访数据却很少，这些结节被确定为分子阴性或低风险。本研究的目的是评估细胞学不确定（贝塞斯达 III 或 IV 级）且 ThyroSeq 结果为阴性或低风险的结节的预后。研究纳入了至少有一个甲状腺结节的细针穿刺取样患者，这些患者在2012年至2018年期间接受了ThyroSeq检测，细胞学不确定样本的ThyroSeq结果为阴性或低风险（n = 159例患者，167个结节）。结果包括每个检测版本的假阴性率和阴性预测值，以及每个结节的随访时间。结果本研究共纳入 159 名患者，平均年龄为 58 岁（7-84 岁）；大多数为女性（81.8%）。平均随访时间为 4.0 年。在 167 个结节中，有 3 个在切除时发现为恶性（1.8%）。结论ThyroSeq检测具有良好的阴性预测价值，有助于对细胞学上不确定的结节进行风险分层。常规随访可安全监测结节是否有恶性肿瘤的提示特征。
{"title":"The negative outlook: Long-term follow up of ThyroSeq negative and low-risk nodules","authors":"Raquel A. Perry BS, Megan F. Lee MD, Rachel C. Jug MB, BCh, BAO, Rajesh C. Dash MD, Daniel J. Rocke MD, JD, Xiaoyin “Sara” Jiang MD","doi":"10.1002/cncy.22875","DOIUrl":"10.1002/cncy.22875","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Molecular testing of thyroid nodules is an essential tool to help risk stratify nodules with indeterminate cytology. Although ThyroSeq testing has been around for over a decade, there is a paucity of long-term follow-up data on cytologically indeterminate nodules that are determined to be molecularly negative or low-risk. The objective of this study is to assess the outcomes of nodules with indeterminate cytology (Bethesda III or IV) and negative or low-risk ThyroSeq results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This is a single academic institution retrospective cohort study. Patients with at least one thyroid nodule sampled with fine-needle aspiration who underwent ThyroSeq testing from 2012 to 2018 and had negative or low-risk ThyroSeq results on a cytologically indeterminate sample (<i>n</i> = 159 patients, 167 nodules) were included in the study. Outcomes include the false-negative rate and negative predictive value of each test version, as well as follow-up length for each nodule.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 159 patients with a mean age of 58 years (7–84 years) included in this study; the majority were female (81.8%). The mean follow-up was 4.0 years. Of 167 nodules, three were found to be malignant on resection (1.8%). The negative predictive value for the entire cohort was 98.2% and it was 89.3% for the surgical series.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>ThyroSeq testing has good negative predictive value and can help risk stratify cytologically indeterminate nodules. Routine follow-up allows for safe monitoring of nodules for features suggestive of malignancy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"132 10","pages":"629-634"},"PeriodicalIF":2.6,"publicationDate":"2024-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141549354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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