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Cytomorphology and clinicopathologic correlation of TFE3-rearranged renal cell carcinoma
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-02-06 DOI: 10.1002/cncy.22933
Tieying Hou MD, PhD, Xiaoqi Lin MD, PhD
{"title":"Cytomorphology and clinicopathologic correlation of TFE3-rearranged renal cell carcinoma","authors":"Tieying Hou MD, PhD,&nbsp;Xiaoqi Lin MD, PhD","doi":"10.1002/cncy.22933","DOIUrl":"https://doi.org/10.1002/cncy.22933","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>TFE3</i>-rearranged renal cell carcinoma (<i>TFE3</i>-rRCC) harbors gene fusions involving <i>TFE3</i> with one of many different partner genes. Because of their diverse morphologies, the differential diagnosis is broad and challenging. Publications focusing on the cytomorphology of <i>TFE3</i>-rRCC are sparse.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Fifteen cytology cases of <i>TFE3</i>-rRCC from 12 patients were retrieved, comprising seven primary kidney cases and eight metastatic cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cytology smears showed tumor cells with moderate granular or vacuolated cytoplasm, arranged in diverse patterns, such as three-dimensional clusters, nested/sheeted formations, isolated cells, papillary, and tubular/acinar structures. The tumor cells exhibited enlarged eccentric, round or oval nuclei, possibly situated peripherally, with small to prominent nucleoli and irregular nuclear membranes. Macrophages, hyalinized globules, or necrosis were occasionally seen. Core and cell block histology often showed papillae with surface-oriented nuclei. Tumor cells were also arranged in nested, sheeted, and tubular patterns. Tumor cells were immunoreactive to TFE3 (100%), AMACR (100%), PAX8 (88%), and CD10 (83%) and showed focal staining for CA9 (64%), CK7 (20%), and CD117 (25%). TFE3 rearrangement was confirmed in 13 of 15 cases through fluorescence in situ hybridization or RNA fusion next-generation sequencing testing. Metastasis was observed in nine of 12 patients (80%), with retroperitoneal lymph nodes being the most common site, followed by distant lymph nodes, lung, brain, adrenal gland, and bone. Six patients (50%) underwent nephrectomy alone, two patients (17%) received chemotherapy alone, and four patients (33%) received combined nephrectomy and chemotherapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Timely recognition of TFE3-rRCC’s distinct cytomorphologic and histomorphologic features is essential for accurate diagnosis and effective treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22933","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143248857","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}
引用次数: 0
Pericardial fluid evaluation: Diagnostic yield and cytology–histology correlation
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-02-06 DOI: 10.1002/cncy.70000
Elie Tannous MD, Sana Malik BASc, Syed M. Gilani MD
{"title":"Pericardial fluid evaluation: Diagnostic yield and cytology–histology correlation","authors":"Elie Tannous MD,&nbsp;Sana Malik BASc,&nbsp;Syed M. Gilani MD","doi":"10.1002/cncy.70000","DOIUrl":"https://doi.org/10.1002/cncy.70000","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pericardial effusion can be due to any etiology but may cause significant morbidity and mortality; however, malignant effusions are rare, and accurate and timely diagnosis is essential for appropriate further management. Data on the actual comparison of pericardial cytology and surgical specimens are limited, and this study was conducted to evaluate an institutional cohort and compare these two samples.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The institutional electronic database system was retrospectively searched between January 2019 and December 2023 for pericardial biopsies/surgical specimens (PSSs) and cytology.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 202 surgical specimens of the pericardium were identified from patients with a median age of 67 years and a range of 18–97 years. Of these 202 cases, 190 specimens also underwent cytological evaluation, which included 153 cases that were negative for malignancy, nine cases that were indeterminate/atypical, and 28 cases that were positive for malignancy. Agreement between cytology and PSSs was reached in 172 cases, with 153 being benign and 19 being malignant. However, a cytology–histology discrepancy was found in 18 cases. Of these 18 cases, nine showed positive cytology but all had negative concurrent PSSs except for one with focal atypia, and the remaining nine were indeterminate/atypical on cytology. Eight of these nine indeterminate cases were negative on the PSS, whereas one atypical cytology case with low cellularity showed a positive PSS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>If atypical cases are excluded, cytology demonstrates a better diagnostic yield for detecting malignancy compared to surgical specimens (<i>n</i> = 28 cases vs. <i>n</i> = 20 cases, respectively).</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143248858","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}
引用次数: 0
Assessment of risk of malignancy with application of Sydney classification for reporting of lymph node cytopathology in pediatric population: An institutional experience
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-02-04 DOI: 10.1002/cncy.22936
Mukund Sable MD, Manisha Panda MBBS, Prapti Acharya MD, Pritinanda Mishra MD, Suvendu Purkait MD, Madhusmita Sethy MD, Pavithra Ayyanar MD, Amit Kumar Adhya MD, Susama Patra MD
{"title":"Assessment of risk of malignancy with application of Sydney classification for reporting of lymph node cytopathology in pediatric population: An institutional experience","authors":"Mukund Sable MD,&nbsp;Manisha Panda MBBS,&nbsp;Prapti Acharya MD,&nbsp;Pritinanda Mishra MD,&nbsp;Suvendu Purkait MD,&nbsp;Madhusmita Sethy MD,&nbsp;Pavithra Ayyanar MD,&nbsp;Amit Kumar Adhya MD,&nbsp;Susama Patra MD","doi":"10.1002/cncy.22936","DOIUrl":"https://doi.org/10.1002/cncy.22936","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fine-needle aspiration cytology (FNAC) has been used as the first line approach to lymphadenopathy, which is a common presentation in pediatric age group. The Sydney system for reporting of lymph node (LN) cytology has been proposed to assess the reliability, performance, and accuracy of the aspiration procedure. This study intends to assess the role of FNAC in the pediatric population according to the Sydney system.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This was a retrospective observational study from a tertiary care center in Eastern India. All the patients in the age group of 0–18 years evaluated during years 2016–2024 were reclassified according to the Sydney system. Based on the cytology and histology diagnoses, the cases were categorized into true-negative, true-positive, false-negative, and false-positive. The overall sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), accuracy, and risk of malignancy (ROM) was calculated for each category.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 803 cases of pediatric LN-FNACs, 35 (4.35%) cases were reported as inadequate (L1), 689 (85.8%) cases as benign (L2), four (0.49%) cases as atypical cells of undetermined significance (L3), 22 cases as suspicious for malignancy (L4), and 53 (6.6%) cases as malignant (L5). The sensitivity, specificity, PPV, NPV, and accuracy was 72.34%, 98.48%, 97.14%, 83.33%, and 87.61%, respectively. The ROM was 16.67% for L2 and 100% for both L4 and L5 categories.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>FNAC is a highly accurate and specific test for LN pathology, especially in the pediatric population. The incorporation of the Sydney system helps to achieve uniformity and reproducibility in LN cytology diagnosis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143111918","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}
引用次数: 0
Cytologic, histologic, and clinical correlation of minor mutations in pancreatic cysts
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-25 DOI: 10.1002/cncy.22935
Melanie C. Kwan MD, Martha B. Pitman MD, M. Lisa Zhang MD
{"title":"Cytologic, histologic, and clinical correlation of minor mutations in pancreatic cysts","authors":"Melanie C. Kwan MD,&nbsp;Martha B. Pitman MD,&nbsp;M. Lisa Zhang MD","doi":"10.1002/cncy.22935","DOIUrl":"10.1002/cncy.22935","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Major mutations (e.g., <i>KRAS</i>, <i>GNAS</i>, <i>TP53</i>, <i>SMAD4</i>) in pancreatic cyst fluid (PCF) are useful for classifying and risk stratifying certain cyst types, particularly in cases with nondiagnostic cytology. However, the significance of uncommon minor mutations in PCF has yet to be reported.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In total, 127 PCF specimens (2014–2021) from 121 patients that underwent molecular analysis were identified, and detailed clinicopathologic data were recorded. Molecular testing was performed using a laboratory-developed next-generation sequencing panel.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Forty-five variants other than <i>KRAS</i>, <i>GNAS</i>, <i>RNF43</i>, <i>TP53</i>, <i>CDKN2A</i>, and <i>SMAD4</i> were detected. Variants that were detected in five or more cases included <i>ARID1A</i> (<i>n</i> = 28), <i>VHL</i> (<i>n</i> = 17), <i>BRAF</i> (<i>n</i> = 12), <i>ATM</i> (<i>n</i> = 8), <i>APC</i> (<i>n</i> = 8), <i>MEN1</i> (<i>n</i> = 5), serine threonine kinase 11 <i>(STK11</i>; <i>n</i> = 5), <i>PIK3CA</i> (<i>n</i> = 5), and <i>CDH1</i> (<i>n</i> = 5). Thirty-eight of 121 patients (31%) had histologic confirmation on follow-up resection. Twenty-seven of 28 cysts (96%) with <i>ARID1A</i> mutations had concurrent <i>KRAS</i>/<i>GNAS</i> mutations; 17 (61%) were diagnosed as neoplastic mucinous cysts on cytology, and 10 (36%) were diagnosed as intraductal papillary mucinous neoplasm (IPMN) on histology (80% low grade). No patients developed disease recurrence or died of disease. Cysts with <i>STK11</i> mutations had <i>RAS</i> co-mutations (<i>KRAS</i>, <i>n</i> = 5; <i>NRAS</i>, <i>n</i> = 1), and four of those five cysts (80%) were mucinous neoplasms with high-grade atypia on cytology. All three resection specimens were IPMNs with high-grade dysplasia or invasive carcinoma, and two of those patients died of disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>In PCFs, <i>ARID1A</i> mutations were consistently associated with IPMNs (predominantly low grade) with no recurrences or deaths from disease. <i>STK11</i> mutations appeared to be associated with high-risk mucinous cysts. The detection of minor variants may provide useful preoperative information and add value beyond single-gene genotyping of major mutations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045556","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}
引用次数: 0
Amid a boom in organ donation, a heightened focus on cancer risk in transplant recipients 随着器官捐赠的蓬勃发展,对移植受者癌症风险的高度关注:免疫抑制、传染性感染和肿瘤,以及器官受者长期生存率的提高,要求对皮肤癌和其他恶性肿瘤提高警惕。
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-20 DOI: 10.1002/cncy.22932
Bryn Nelson PhD, William Faquin MD, PhD
{"title":"Amid a boom in organ donation, a heightened focus on cancer risk in transplant recipients","authors":"Bryn Nelson PhD,&nbsp;William Faquin MD, PhD","doi":"10.1002/cncy.22932","DOIUrl":"10.1002/cncy.22932","url":null,"abstract":"&lt;p&gt;In 2023, the United States set a record for organ transplants, with more than 46,00 transplants performed with organs procured from more than 16,000 deceased donors and nearly 7000 living ones.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; With this encouraging trend reported by the Organ Procurement and Transplantation Network (OPTN), though, experts have stressed that the lifesaving operations can carry a tradeoff. Although it has happened only rarely, some donors’ metabolic disorders or nascent tumors have evaded detection before the transplant, the latter resulting in the documented transmission of glioblastoma multiforme and lung, breast, colorectal, kidney, and other cancers.&lt;/p&gt;&lt;p&gt;More commonly, donors can transmit parasitic, fungal, bacterial, or viral infections, including some cancer-linked pathogens such as &lt;i&gt;Helicobacter pylori&lt;/i&gt;, hepatitis B, and hepatitis C, as well as more ubiquitous viruses such as Epstein–Barr virus and human papillomavirus (HPV). &lt;i&gt;H. pylori&lt;/i&gt; has been linked to gastric cancer, chronic hepatitis, and liver cancer; Epstein–Barr to non-Hodgkin lymphoma; and HPV to cervical, anal, penile, and oropharyngeal cancers.&lt;/p&gt;&lt;p&gt;A 2021 study by OPTN’s Disease Transmission Advisory Committee (DTAC) suggested that donor-derived disease transmission occurs in less than 1% of all transplant recipients. Of the proven or probable donor transmission events, 67% involved infections, 29% included malignancies, and 6% involved other disease processes (a small percentage involved more than one kind of event).&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt;\u0000 &lt;/p&gt;&lt;p&gt;Gerald Berry, MD, a professor of surgical pathology at Stanford University in Palo Alto, California, and a cancer expert on the DTAC, says that the committee first tries to determine whether a transmissible event is donor-derived or originates in the recipient. “Then the subcategory is, even if it’s donor derived, was it there at the time of transplant and too small to actually detect?”&lt;/p&gt;&lt;p&gt;The DTAC’s work toward determining whether a malignancy can be traced back to the donor, even years after the fact, can help to establish the risk for the remaining cohort of transplant recipients. “Many times, the donor is providing organs for more than one recipient, so the biggest concern is when a recipient develops a malignancy, are the other recipients at risk?” Dr Berry says. The risk can be further characterized according to tumor type: A donor’s brain tumor that has metastasized, for example, would pose a considerably bigger danger than a far more treatable thyroid tumor.&lt;/p&gt;&lt;p&gt;The most significant cancer-related risk for organ transplant recipients, however, is associated with the very immunosuppressive medications that are required to prevent rejection of the organs but also can render the immune system less able to identify and kill tumor cells or battle cancer-linked infections. “The patients are so heavily immunosuppressed as part of the transplant protocol that the host versus the virus mechani","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22932","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000667","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}
引用次数: 0
Cytologic diagnosis of fumarate hydratase-deficient renal cell carcinoma: A single-institutional experience 富马酸水合酶缺乏肾细胞癌的细胞学诊断:单一机构的经验。
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-13 DOI: 10.1002/cncy.22931
Patrick C. Mullane MD, Xiaohua Qian MD, PhD, Hubert D. Lau MD, Alarice Cheng-Yi Lowe MD
{"title":"Cytologic diagnosis of fumarate hydratase-deficient renal cell carcinoma: A single-institutional experience","authors":"Patrick C. Mullane MD,&nbsp;Xiaohua Qian MD, PhD,&nbsp;Hubert D. Lau MD,&nbsp;Alarice Cheng-Yi Lowe MD","doi":"10.1002/cncy.22931","DOIUrl":"10.1002/cncy.22931","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Fumarate hydratase-deficient renal cell carcinoma (FHRCC) is an aggressive carcinoma that typically presents as advanced-stage disease. Prompt recognition of FHRCC is critical for appropriate clinical care and genetic counseling for patients and family members. However, diagnosing FHRCC from cytology specimens is challenging, with limited characterization and no reports describing prospectively identified cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Cytology fine-needle aspiration (FNA) cases diagnosed as FHRCC were reviewed, including two prospectively identified cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Five cases of FHRCC diagnosed by FNA cytology were identified in five unique patients. The cytologic samples included four FNAs with core biopsy and one FNA with cell block. Biopsy sites included kidney (<i>n</i> = 1), chest wall (<i>n</i> = 1), omentum (<i>n</i> = 1), lung (<i>n</i> = 1), and cervical lymph node (<i>n</i> = 1). All cases demonstrated cytologically malignant epithelial cells characterized by enlarged, round nuclei with variable pleomorphism, irregular nuclear membranes, prominent nucleoli, and moderate-to-abundant amounts of cytoplasm. Perinucleolar halos characterized by chromatin margination and pallor around macronucleoli were seen in all cases. Cytologic features not previously described included cytoplasmic macrovacuoles and eosinophilic globules, cytophagocytosis, and <i>floral groups</i>. Papillary architecture was rarely present on aspirate smears. Cell block sections showed variable architectural patterns. By immunohistochemistry, FH was definitively lost in three of five cases (60%), and 2-succinocysteine was positive in all 5 cases (100%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Cytologic specimens of FHRCC demonstrate salient cytomorphologic features that can support their initial diagnosis. Confirmatory immunohistochemical testing using a dual panel of fumarate hydratase and 2-succinocysteine is recommended for the diagnosis in limited biopsy samples.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 2","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142969738","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}
引用次数: 0
Counseling gap may worsen endometrial cancer disparities in Black women 咨询差距可能会加剧黑人女性子宫内膜癌的差异:一项研究发现,黑人或非洲血统的女性比白人女性有更少的癌症相关基因突变,但获得遗传咨询的机会更少。
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-02 DOI: 10.1002/cncy.22928
Bryn Nelson PhD, William Faquin MD, PhD
{"title":"Counseling gap may worsen endometrial cancer disparities in Black women","authors":"Bryn Nelson PhD,&nbsp;William Faquin MD, PhD","doi":"10.1002/cncy.22928","DOIUrl":"10.1002/cncy.22928","url":null,"abstract":"&lt;p&gt;Cancer of the endometrium, or the lining of the uterus, is the most common gynecologic cancer. Its incidence is accelerating, especially in younger women and among racial and ethnic minorities; it is one of the few cancers with worsening mortality rates.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; The trend is most pronounced in Black women, who are two-fold more likely to die of endometrial cancer than their White counterparts.&lt;/p&gt;&lt;p&gt;Research has shown that mutations in dozens of cancer predisposition genes, or germline pathogenic variants, can increase the risk. A recent study that grouped 1625 women with endometrial cancer by self-reported race, ethnicity, and Ashkenazi Jewish ancestry, however, has pointed to a more troubling contributor to disparities in patient outcomes. Although the genetic mutation rates were lowest in women who identified as being Black or of African ancestry, so too were their rates of genetic counseling, which could help them to assess treatment options.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt;\u0000 &lt;/p&gt;&lt;p&gt;The study, led by oncologist Ying Liu, MD, MPH, at Memorial Sloan Kettering Cancer Center in New York, suggests that the counseling disparities also could dampen subsequent counseling rates for at-risk relatives. Social determinants then could be making endometrial cancer morbidity and mortality disparities worse in Black women despite a genetic contribution to risk that is equivalent to or lower than that in White women.&lt;/p&gt;&lt;p&gt;Given the growing use of such germline assessments, Dr Liu and her colleagues emphasize the need to understand variations related to patients’ ancestry, correlations between genetic findings and tumor traits, and “downstream implications on treatment and cancer prevention and the potential contribution to racial disparities in outcomes.”&lt;/p&gt;&lt;p&gt;Oladapo Yeku, MD, PhD, assistant professor of medicine at Harvard University, says that he is not surprised by Dr Liu’s findings “but very concerned because it gave numbers to some of the things that a lot of doctors in the community and academic centers have known for some time.” Many physicians had sensed that women in underserved communities were not getting appropriate referrals for genetic counseling. “But it was hard to get a number on it; it hadn’t been rigorously studied,” Dr Yeku says. “What this single institution report did was actually put some numbers to what some people had feared the whole time.”&lt;/p&gt;&lt;p&gt;The referral gap is even more concerning because tumor mutation testing and guideline-based recommendations for managing newly diagnosed, advanced, and recurrent endometrial cancer generally have increased in availability. As Dr Yeku wrote in an editorial accompanying the study, “disparities in testing, referral to clinical genetics, and participation in clinical trials are persistent contributors to poor outcomes in this patient population.”&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt;\u0000 &lt;/p&gt;&lt;p&gt;Lack of access, in fact, has been a consistent theme in multiple aspects of care ","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/cncy.22928","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920747","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}
引用次数: 0
Same-day molecular testing for targetable mutations in solid tumor cytopathology—The next frontier of the rapid on-site evaluation 实体瘤细胞病理学中可靶向突变的当日分子检测——快速现场评估的下一个前沿领域。
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-02 DOI: 10.1002/cncy.22930
J. Bryan Iorgulescu MD, MPH, Richard Kenneth Yang MD, PhD, Sinchita Roy-Chowdhuri MD, PhD, Gloria Hopkins Sura MD
{"title":"Same-day molecular testing for targetable mutations in solid tumor cytopathology—The next frontier of the rapid on-site evaluation","authors":"J. Bryan Iorgulescu MD, MPH,&nbsp;Richard Kenneth Yang MD, PhD,&nbsp;Sinchita Roy-Chowdhuri MD, PhD,&nbsp;Gloria Hopkins Sura MD","doi":"10.1002/cncy.22930","DOIUrl":"10.1002/cncy.22930","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>This study aimed to assess the feasibility of implementing the Idylla system, an ultra-rapid, cartridge-based assay, as an extension of rapid on-site evaluation (ROSE) in cytology. The authors conducted a pilot validation study on specimens from non–small cell lung carcinoma, thyroid carcinoma, and melanoma, evaluating four assays designed to detect alterations in <i>KRAS</i>, <i>EGFR</i>, <i>BRAF</i>, gene fusions, and expression imbalances in <i>ALK</i>, <i>ROS1</i>, <i>RET</i>, <i>NTRK</i>1/2/3, and <i>MET</i> exon 14 skipping transcripts. They investigated the feasibility of providing accurate biomarker molecular testing results in a cytopathology laboratory within hours of specimen collection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The authors evaluated the performance characteristics and turn-around-time of the Idylla system by testing a total of 144 cartridge assays across various specimen types, including fine-needle aspirate smears, formalin-fixed paraffin-embedded (FFPE) cell blocks, small tissue biopsy FFPE blocks, and control cell line FFPE scrolls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The average time from specimen input to results output was 2–3 hours. Accuracy across the four cartridge types was: <i>KRAS</i> assay: 100%, <i>EGFR</i> assay: 94%, <i>BRAF</i> assay: 100%, and GeneFusion assay: 94%. Analytical sensitivity ranged from 1% to 5% variant allele frequency for all assays. Inter-assay precision and analytical specificity were both 100%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Using the Idylla system, actionable genetic alterations can be reliably detected within 2–3 hours from cytology and small biopsy samples with minimal input requirements. The findings of this study demonstrate the feasibility of incorporating same-day molecular testing as part of ROSE procedures in the cytopathology laboratory, ultimately shortening the time from procedure to personalized treatment for cancer patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920749","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}
引用次数: 0
State pathology societies—valuable resources for trainees 国家病理学会——学员的宝贵资源。
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-02 DOI: 10.1002/cncy.22926
Myles R. McCrary MD, PHD, Carmen Gomez-Fernandez MD
{"title":"State pathology societies—valuable resources for trainees","authors":"Myles R. McCrary MD, PHD,&nbsp;Carmen Gomez-Fernandez MD","doi":"10.1002/cncy.22926","DOIUrl":"10.1002/cncy.22926","url":null,"abstract":"<p>The importance of large, national/international organizations like the College of American Pathologists (CAP) and the US and Canadian Academy of Pathology for resident and fellow training cannot be overstated. However, many opportunities also exist at the locoregional level, such as pathology state societies, which vary widely in size, structure, and level of engagement but can provide valuable resources and networking opportunities for trainees. What are some specific resources, initiatives, and mechanisms that might be beneficial for local, state, and regional pathology society groups to enhance trainee experiences? The Florida Society of Pathologists (FSP) enjoys a long history of representing the interests of Florida pathologists and is an impressive example of a large state society. Key areas addressed for residents and fellows who participate in the FSP include engagement, networking, education, and advocacy. Here, we summarize several programs and initiatives that the FSP has pursued to cater to the needs of Florida's resident/fellow trainees, and we hope that this information will benefit other locoregional and state societies.</p>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142920750","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}
引用次数: 0
Rapid on-site evaluation using telecytology: Quality assurance study at a high-volume cancer center 使用远程技术的快速现场评估:高容量癌症中心的质量保证研究。
IF 2.6 3区 医学
Cancer Cytopathology Pub Date : 2025-01-02 DOI: 10.1002/cncy.22929
Mohamed Alhamar MD, Dorota Rudomina MBA, CT (ASCP), Lu Wang BS, CT (ASCP), Rusmir Feratovic MHA, CT (ASCP), Handy Oen MBA, CT, MB (ASCP), Oscar Lin MD, PhD, Xiao-Jun Wei MD
{"title":"Rapid on-site evaluation using telecytology: Quality assurance study at a high-volume cancer center","authors":"Mohamed Alhamar MD,&nbsp;Dorota Rudomina MBA, CT (ASCP),&nbsp;Lu Wang BS, CT (ASCP),&nbsp;Rusmir Feratovic MHA, CT (ASCP),&nbsp;Handy Oen MBA, CT, MB (ASCP),&nbsp;Oscar Lin MD, PhD,&nbsp;Xiao-Jun Wei MD","doi":"10.1002/cncy.22929","DOIUrl":"10.1002/cncy.22929","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Telecytology-assisted rapid on-site evaluation (ROSE) offers a cost-effective method to enhance minimally invasive biopsies like fine needle aspiration and core biopsies with touch preparation. By reducing nondiagnostic sampling and the need for repeat procedures, ROSE via telecytology facilitates prompt triage for ancillary tests, improving patient management. This study examines cases initially deemed adequate for diagnosis during telecytology-assisted ROSE but later categorized as nondiagnostic at final evaluation (NDIS).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Design</h3>\u0000 \u0000 <p>We performed a retrospective analysis of telecytology-assisted ROSE cases over 7 years at a major cancer center, focusing on fine needle aspiration and touch preparation of core biopsies. Each case was thoroughly reviewed, correlating with clinical data and concurrent core biopsies or subsequent excisions. The study identified leading factors contributing to NDIS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The average NDIS rate was 0.06% (42/70,612). Misinterpretation of benign or reactive cells as neoplastic was the leading cause (76.2%) of discrepancies between original ROSE and final diagnosis. Kidney biopsies had the highest NDIS rate (0.90%), primarily because of misinterpreting nonneoplastic cells. Thyroid biopsies were linked to quantitative threshold issues (0.10%). NDIS events were most associated with misinterpretation in kidney, pancreas, gastrointestinal tract, and lung biopsies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In conclusion, the NDIS rate in telecytology-assisted ROSE is low, but quality assurance identified areas for improvement. Recognizing site-specific pitfalls during telecytology-assisted ROSE can enhance diagnostic accuracy and optimize patient care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9410,"journal":{"name":"Cancer Cytopathology","volume":"133 1","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913704","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}
引用次数: 0
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