Human pathologyPub Date : 2025-08-01DOI: 10.1016/j.humpath.2025.105801
Lan Zheng , Lin Jonathan He , Hui Chen , Qingqing Ding , Justin Bishop , Yan Peng
{"title":"CIC-rearranged sarcoma in the breast: A series of 3 rare cases with literature review","authors":"Lan Zheng , Lin Jonathan He , Hui Chen , Qingqing Ding , Justin Bishop , Yan Peng","doi":"10.1016/j.humpath.2025.105801","DOIUrl":"10.1016/j.humpath.2025.105801","url":null,"abstract":"<div><div><span>Capticua transcriptional repressor (</span><em>CIC</em><span><span>)-rearranged sarcoma represents a distinct highly aggressive, undifferentiated round </span>cell sarcomas, which most commonly affects young adults. The tumor typically arises in the deep soft tissues of the limbs and trunk, followed by the head and neck region, and is rarely found in visceral organs. </span><em>CIC</em>-rearranged sarcoma originating in the breast is extremely rare with only one case having been reported in the literature. We report three cases of <em>CIC</em><span><span>-rearranged sarcoma in the breast, all occurring in young females and exhibiting aggressive clinical behavior. Microscopically, all three cases showed diffuse or lobular growth of small round blue tumor cells with vesicular nuclei, prominent </span>nucleoli<span>, and clear cytoplasm. Focal reticular growth pattern and myxoid stroma were also observed. The diagnosis of </span></span><em>CIC</em><span><span>-rearranged sarcoma was confirmed through either fluorescence in situ hybridization (FISH) or </span>RNA sequencing; two of the three cases were confirmed to harbor </span><em>CIC</em>::<em>DUX4</em> fusion. This case series, to the best of our knowledge, represents the largest report of <em>CIC</em><span>-rearranged sarcoma in the breast. It highlights the importance of recognizing this rare entity in the breast due to its aggressive clinical course, poor response to chemotherapy, and high tendency for metastasis. It also emphasizes the utility of molecular studies in distinguishing </span><em>CIC</em>-rearranged sarcoma from poorly differentiated carcinoma, as <em>CIC</em>-rearranged sarcoma has significantly worse prognosis than poorly differentiated carcinoma of breast.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"162 ","pages":"Article 105801"},"PeriodicalIF":2.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-08-01DOI: 10.1016/j.humpath.2025.105835
Hua Guo , Shi Wei
{"title":"Prognostic models for breast cancer: A narrative review","authors":"Hua Guo , Shi Wei","doi":"10.1016/j.humpath.2025.105835","DOIUrl":"10.1016/j.humpath.2025.105835","url":null,"abstract":"<div><div>Cancer prognostic models use a combination of risk factors to estimate the probability of patients' clinical outcomes, allowing the physicians to categorize patients into risk groups to guide clinical decision making. An ideal prognostic model would accurately predict patient survival and/or recurrence risk, taking into account a combination of clinical and pathological parameters that are readily available in the standard of care practice, thus can be widely utilized and continuously calibrated. To date, there have been many prognostic models for breast cancer proposed. These models differ in the methods of development and validation, the composition of predicting factors, the projected clinical outcomes, and their utilities. The identification of prognostic factors heavily relies on accurate assessment of pathologic characteristics of tumors, for which the pathologists’ role is essential. Therefore, it is crucial to understand prognostic models in pathology practice to provide more accurate and personalized patient care. Herein, we present a narrative review of commonly used breast cancer prognostic models in clinical practice.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"162 ","pages":"Article 105835"},"PeriodicalIF":2.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-08-01DOI: 10.1016/j.humpath.2025.105856
Rachel Han , Edi Brogi
{"title":"Microinvasive carcinoma of the breast","authors":"Rachel Han , Edi Brogi","doi":"10.1016/j.humpath.2025.105856","DOIUrl":"10.1016/j.humpath.2025.105856","url":null,"abstract":"<div><div>Microinvasive breast carcinoma<span><span> is a diagnostically subtle form of invasive breast carcinoma with poorly characterized biologic behavior and limited evidence to guide treatment. This review addresses: (i) diagnostic criteria for microinvasive breast carcinoma; (ii) epidemiology and clinical features; (iii) histopathologic findings, including practical diagnostic clues and use of </span>immunohistochemistry; (iv) biomarker assessment; and (v) current clinical management strategies and challenges.</span></div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"162 ","pages":"Article 105856"},"PeriodicalIF":2.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144368827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-08-01DOI: 10.1016/j.humpath.2025.105909
S. Emily Bachert , Ellen Chapel , Stuart J. Schnitt
{"title":"Breast myoepithelial markers: Problems and pitfalls for the practicing pathologist","authors":"S. Emily Bachert , Ellen Chapel , Stuart J. Schnitt","doi":"10.1016/j.humpath.2025.105909","DOIUrl":"10.1016/j.humpath.2025.105909","url":null,"abstract":"<div><div>Immunohistochemical stains for myoepithelial cell (MEC) markers are commonly used in breast pathology to help distinguish benign and in situ lesions from invasive carcinomas. Benign and in situ lesions typically demonstrate an associated MEC layer, whereas invasive carcinomas typically lack associated MECs. However, there are some benign lesions and in situ carcinomas in which a MEC layer is partially or completely absent, and there are malignant lesions that contain a component of MECs. An understanding of these exceptions is critical to ensure the correct diagnosis. This review will focus on benign and in situ breast lesions in which associated MECs are reduced or entirely lacking, and malignant breast lesions that contain a population of MECs.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"162 ","pages":"Article 105909"},"PeriodicalIF":2.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144816479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-07-26DOI: 10.1016/j.humpath.2025.105880
Jun Wang , Zijuan Zhang , Hangqi Liu , Jing Wang, Yumeng Cai, Yuhan Zhang, Longyun Chen, Huanwen Wu, Zhiyong Liang
{"title":"Identification of constitutional MLH1 methylation in MLH1-deficient colorectal cancer","authors":"Jun Wang , Zijuan Zhang , Hangqi Liu , Jing Wang, Yumeng Cai, Yuhan Zhang, Longyun Chen, Huanwen Wu, Zhiyong Liang","doi":"10.1016/j.humpath.2025.105880","DOIUrl":"10.1016/j.humpath.2025.105880","url":null,"abstract":"<div><h3>Background</h3><div>Constitutional <em>MLH1</em> methylation (epimutation), a poorly recognized mechanism for Lynch syndrome (LS), is usually overlooked due to current screening strategies that rely on tumor <em>MLH1</em> methylation as an indication of sporadic mismatch repair-deficient (dMMR) colorectal cancer (CRC). We aimed to assess the frequency and clinicopathological characteristics of constitutional <em>MLH1</em> methylation among dMMR CRC cases with tumor <em>MLH1</em> methylation.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study on two independent cohorts: a discovery cohort of 48 MLH1-deficient CRC cases (2017–2021) and a validation cohort of 159 consecutive CRC cases (2022–2024). Real-time methylation-specific PCR (qMSP) screened for tumor <em>MLH1</em> methylation, followed by constitutional <em>MLH1</em> methylation testing on paired normal colorectal mucosa (NCM) DNA, confirmed by CpG pyrosequencing.</div></div><div><h3>Results</h3><div>In the discovery cohort, constitutional <em>MLH1</em> methylation was identified in 4 of 31 individuals (12.9 %) with tumor <em>MLH1</em> methylation, including 2 with high-level and 2 with low-level mosaic methylation. These patients were generally younger (median age: 56 years) , and three of the four tested negative for the <em>BRAF</em> V600E mutation. When applying an age threshold of ≤55 years, the highest positivity rate for constitutional <em>MLH1</em> methylation was achieved at 2 of 4 (50.0 %), and notably, both exhibited relatively high-level epimutations. A refined screening strategy specially targeting high-level constitutional <em>MLH1</em> methylation was developed. In the validation cohort, 35 MLH1-deficient, <em>BRAF</em> V600E-negative cases were tested, including 18 individuals aged ≤55 years and 17 randomly selected controls aged >55 years. Constitutional <em>MLH1</em> methylation was successfully identified in one patient from the younger group, while none was detected among the older controls. All five cases lacked a significant family history, and one patient developed three LS-associated cancers. In addition, heterogeneous MMR protein expression patterns, and early partial MLH1/PMS2 loss in precancerous lesions were observed.</div></div><div><h3>Conclusions</h3><div>Our findings highlight a subset of younger patients with constitutional <em>MLH1</em> methylation among MLH1-deficient, <em>MLH1</em>-methylated CRC cases. Patients aged ≤55 years, whose tumors exhibit <em>MLH1</em> methylation or lack the <em>BRAF</em> V600E mutation, are recommended to undergo additional testing for constitutional <em>MLH1</em> methylation to improve LS-related clinical management.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"163 ","pages":"Article 105880"},"PeriodicalIF":2.6,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-07-24DOI: 10.1016/j.humpath.2025.105877
Qing Yin Wang , Nazim Benzerdjeb , Samuel Jaquet , Andreea Stepanov , Mame-Kany Diop , Mirela Birlea , Fred Saad , Dominique Trudel
{"title":"Impact of hormone sensitivity status on aberrant expression of CK7, CK20, CDX2, GATA3 and TTF1 in prostate cancer","authors":"Qing Yin Wang , Nazim Benzerdjeb , Samuel Jaquet , Andreea Stepanov , Mame-Kany Diop , Mirela Birlea , Fred Saad , Dominique Trudel","doi":"10.1016/j.humpath.2025.105877","DOIUrl":"10.1016/j.humpath.2025.105877","url":null,"abstract":"<div><div>Prostate cancer (PC) rarely expresses aberrant immunohistochemical markers such as CK7, CK20, CDX2, GATA3 and TTF1. This study evaluates whether expression of CK7, CK20, CDX2, GATA3 and TTF1 is increased in hormone-resistant (HR) PC compared to hormone-sensitive (HS) disease.</div><div>64 patients undergoing transurethral resection of the prostate (TURP) for PC were included: 34 with HS disease, 22 with HR disease, and 8 whose status changed from HS to HR on a subsequent TURP (HS-HR). Overall, CK20 was the most frequently expressed aberrant marker (33.3 % of HS, 60.0 % of HR), followed by CK7 (16.7 % of HS, 13.3 % of HR) and CDX2 (11.9 % of HS, 16.7 % of HR). Compared to HS cases, HR tumors significantly overexpressed CK20 (p = 0.02). Positivity for aberrant markers was usually sparse and heterogeneous within ≤20 % of tumor cells. HR PC was significantly more likely to express aberrant markers among >20 % neoplastic cells than HS tumors (2.4 % and 20.0 % respectively, p = 0.008). The expression of an aberrant marker at >20 % positivity was also associated with loss of expression of ≥1 marker of prostatic origin (PSA, PSMA, P501S or NKX3), p = 0.01. For 21 patients with ≥2 TURPs separated in time, ≥1 aberrant marker was gained over time in 1/7 HS, 2/6 HR and 3/8 HS-HR patients.</div><div>These results suggest that HR PC has increased likelihood of CK20 positivity and aberrant marker positivity in >20 % of tumor cells compared to HS cases, and that the aberrant immunohistochemical expression in a given PC patient may increase over time.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"163 ","pages":"Article 105877"},"PeriodicalIF":2.7,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144704855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-07-24DOI: 10.1016/j.humpath.2025.105879
Albina Joldoshova , Binny Khandakar , Hwajeong Lee , Robert Lam , Dhanpat Jain
{"title":"Biliary pseudo tumor associated with hepatic atrophy","authors":"Albina Joldoshova , Binny Khandakar , Hwajeong Lee , Robert Lam , Dhanpat Jain","doi":"10.1016/j.humpath.2025.105879","DOIUrl":"10.1016/j.humpath.2025.105879","url":null,"abstract":"<div><h3>Background</h3><div>Extensive ductular proliferation can mimic well-differentiated cholangiocarcinoma, but such pseudo-tumorous lesion has not been well described in the literature. Our study sought to evaluate the clinicopathologic features of such cases.</div></div><div><h3>Design</h3><div>Four cases with reactive ductular proliferation that mimicked cholangiocarcinoma microscopically and also appeared grossly to form a mass/nodule were identified from 1995 to 2024 at two large academic health institutions. The clinicopathological features were studied in detail.</div></div><div><h3>Results</h3><div>The study cases included 2 explants, 1 segmental hepatectomy and 1 wedge resection. One of the explants had thrombosis and obstruction of the right portal vein (PV) along with right lobe atrophy. Vascular abnormality was suspected in case 2 but could not be confirmed. However, atrophy of the left lobe along with caudate lobe hypertrophy and preserved right lobe was observed. Both cases had cirrhosis (case 1: HCV infection, case 2: alcoholic liver disease) with portal hypertension. Case 3 and 4 were from patients with metastatic colon cancer who had undergone <em>trans</em>-arterial chemoembolization (TACE). Upon gross examination of the two explants, the atrophic lobes were markedly pale-tan, shrunken, and well-demarcated from the uninvolved lobe mimicking a tumor, while the unaffected lobes were cirrhotic. Histologically the lesions in all cases comprised of marked ductular proliferation that led to an initial consideration of a well-differentiated intrahepatic cholangiocarcinoma. However, these lacked significant cytologic atypia and mitotic activity (ki-67 < 5 %) and had a non-infiltrative growth pattern. In case 3, the ductular proliferation was at the periphery of metastatic focus, while scattered metastatic tumoral glands were encased within proliferating ductules in case 4. The immunostains showed wild-type staining pattern with p53 and retained nuclear expression with p16 and BAP1.</div></div><div><h3>Conclusion</h3><div>Biliary pseudo-tumors can be seen with lobar or segmental atrophy, likely secondary to ischemic parenchymal injury and can mimic a well-differentiated cholangiocarcinoma grossly as well as microsopically. Awareness of this phenomenon and careful attention to the clinical presentation, radiographic imaging and histology shows subtle differences that can facilitate an accurate diagnosis.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"163 ","pages":"Article 105879"},"PeriodicalIF":2.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-07-24DOI: 10.1016/j.humpath.2025.105874
Binnari Kim , Seoung Wan Chae , Hyun-Jung Kim , Jin Roh , Yoo Jin Lee , Jae-Cheol Jo , Hee Jeong Cha
{"title":"Comparative analysis of the tumor microenvironment in primary CNS and testicular large B-cell lymphomas using digital image analysis and its implications for immunotherapy","authors":"Binnari Kim , Seoung Wan Chae , Hyun-Jung Kim , Jin Roh , Yoo Jin Lee , Jae-Cheol Jo , Hee Jeong Cha","doi":"10.1016/j.humpath.2025.105874","DOIUrl":"10.1016/j.humpath.2025.105874","url":null,"abstract":"<div><div>Primary large B-cell lymphomas of immune-privileged sites, including primary central nervous system lymphoma (PCNSL) and primary testicular lymphoma (PTL), exhibit distinct clinicopathologic features contributing to aggressive behavior and immune evasion. While the molecular characteristics of PCNSL and PTL have been extensively studied, the tumor microenvironment (TME) remains insufficiently understood. In particular, no study has directly compared the TME of PCNSL and PTL, highlighting a critical gap in understanding their immunobiology. We analyzed 55 cases of diffuse large B-cell lymphoma involving the central nervous system (CNS) and testis using deep learning-based digital image analysis. Immunohistochemical staining was performed for key immune markers, including CD3, CD4, CD8, FOXP3, PD-1, TIM-3, CD68, and CD163, to characterize TME composition. PTL exhibited significantly higher levels of tumor-infiltrating lymphocytes, including CD3<sup>+</sup> and CD8<sup>+</sup> T-cells, compared to PCNSL (<em>P</em> < 0.001). The T-cell exhaustion index was significantly lower in PTL (<em>P</em> < 0.001), while CD163<sup>+</sup> macrophages were more predominant in PCNSL, suggesting a more immunosuppressive TME in the CNS. Correlation analyses of TME factors revealed differences between the CNS and testis, with stronger interrelationships among immune markers in PCNSL. Our findings highlight distinct TME characteristics between PCNSL and PTL. The predominance of CD163<sup>+</sup> macrophages and higher T-cell exhaustion in PCNSL suggests potential benefits of macrophage-targeted therapies. In contrast, PTL, with a more active TME, may be more responsive to immune checkpoint blockade. This study provides novel insights into the immune landscape of primary large B-cell lymphomas of immune-privileged sites, emphasizing the need for site-specific treatment approaches.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"163 ","pages":"Article 105874"},"PeriodicalIF":2.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717883","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-07-24DOI: 10.1016/j.humpath.2025.105878
Jing Jin , Mengfei Sun , Xin Yang , Zijing Ding , Fuqiang Zhou , Yingzhe Hu , Jie Yu , Qi Sun , Yunzhao Chen , Liyan Xue , Xiaobin Cui
{"title":"Incidence of MSI-H esophageal carcinoma and related identification of genomic alterations: A multi-center real-world study","authors":"Jing Jin , Mengfei Sun , Xin Yang , Zijing Ding , Fuqiang Zhou , Yingzhe Hu , Jie Yu , Qi Sun , Yunzhao Chen , Liyan Xue , Xiaobin Cui","doi":"10.1016/j.humpath.2025.105878","DOIUrl":"10.1016/j.humpath.2025.105878","url":null,"abstract":"<div><div>Microsatellite instability-high (MSI-H) is a favorable prognostic factor for neoadjuvant chemotherapy in several solid tumors, and large datasets are needed to provide robust evidence of its prognostic value in esophageal carcinoma (EC). We aimed to determine the incidence of MSI-H tumors in patients with EC and identify genomic alterations in MSI-H tumors. Data were obtained from three centers in China: Nanjing Drum Tower Hospital, Beijing Cancer Hospital, and the Cancer Hospital Chinese Academy of Medical Sciences. From June 2023 to December 2024, 1485 patients with EC were enrolled in this study. We investigated the incidence of MSI-H tumors and performed whole-exome sequencing of MSI-H tumor tissues. There were three patients with MSI-H from three centers (3/614, 0.49%) in Nanjing Drum Tower Hospital, five (5/644, 0.78%) in Beijing Cancer Hospital, and four (4/227, 1.76%) in the Cancer Hospital Chinese Academy of Medical Sciences. Among the 12 MSI-H tumor tissues, 6 were esophageal squamous cell carcinoma (ESCC) and 6 were esophageal adenocarcinoma (EAC). All MSI-H tumor tissues showed loss of PMS2 expression (100%), with concurrent loss of MLH1 in 9 (75%). Among the MSI-H tumors subjected to Whole Exome Sequencing (WES), all demonstrated high tumor mutation burden (TMB: 19.12–32.68 mutations/Mb) and harbored multiple somatic mutations. The consistency of MSI-H and high TMB scores showed that MSI-H could be an indicator of receiving immunotherapy in EC patients.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"163 ","pages":"Article 105878"},"PeriodicalIF":2.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144717884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Human pathologyPub Date : 2025-07-23DOI: 10.1016/j.humpath.2025.105875
Sterre Leenen , Loes Kooreman , Johannes Bulten , Edith M.G. van Esch , Peggy J. de Vos van Steenwijk , Theodoor E. Nieboer , Ruud L.M. Bekkers , Anne M. van Altena
{"title":"The occurrence and histopathological recognition of atypical endometriosis in patients with ovarian endometriosis – a retrospective cohort study","authors":"Sterre Leenen , Loes Kooreman , Johannes Bulten , Edith M.G. van Esch , Peggy J. de Vos van Steenwijk , Theodoor E. Nieboer , Ruud L.M. Bekkers , Anne M. van Altena","doi":"10.1016/j.humpath.2025.105875","DOIUrl":"10.1016/j.humpath.2025.105875","url":null,"abstract":"<div><h3>Objective</h3><div>– Atypical endometriosis (AE) is considered a potential precursor of endometriosis-associated ovarian carcinoma (EAOC). Despite this, AE identification currently lacks established clinical implications and is not routinely incorporated in histopathological examinations of endometriosis. This study aimed to determine the interobserver variability in AE diagnosis and to classify the features that may attribute to consistent AE identification and diagnosis.</div></div><div><h3>Methods</h3><div>– Cases of ovarian endometriosis, collected between 1985 and 2017 at the Radboud University Medical Centre Nijmegen, were identified using the PALGA database. Pathology reports were reviewed for descriptions of atypical features and mentions of AE. Using a predefined set of criteria adapted from the literature, two independent pathologists re-evaluated the 266 most recent ovarian endometriomas for AE. After revision, the pathologist revised cases with AE to reach consensus when discrepancies occurred.</div></div><div><h3>Results</h3><div>– Among 266 cases of ovarian endometriosis, AE was reported in 31 (11.7 %) cases. The revising pathologists identified AE in 48 cases (18 %), a number that was reduced to 19 cases (7.1 %) after a consensus meeting between the pathologist. After consensus was reached, the diagnostic criteria, adapted from the literature, were adjusted.</div></div><div><h3>Discussion/future directions</h3><div>– High interobserver variability likely reflects AE's heterogeneous presentation, the uncertain role of inflammation-driven atypia and AE's undefined clinical significance. However, given AE's association with malignant transformation, consistent identification may be essential. Stricter criteria were developed for AE in order to encourage uniform identification. Furthermore, we encourage adequate documentation of AE in order to increase the insight in endometriosis behavior by linking endometriosis subtypes to clinical progression.</div></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"163 ","pages":"Article 105875"},"PeriodicalIF":2.6,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144707312","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}