Diagnostic Pathology最新文献

{"title":"Clinical pathological and molecular features of 100 patients with gastric-type cervical adenocarcinoma.","authors":"Shangshu Gao, Yan Song","doi":"10.1186/s13000-025-01666-7","DOIUrl":"10.1186/s13000-025-01666-7","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the clinicopathological and molecular features, diagnosis, and differential diagnosis of gastric-type cervical adenocarcinoma (GAS).</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 100 patients diagnosed with GAS at the National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences, from January 2017 to January 2025. Clinicopathological data, histological characteristics, and immunohistochemical expression patterns were analyzed. Targeted next-generation sequencing (NGS) was performed on 11 cases.</p><p><strong>Results: </strong>The cohort comprised 100 GAS patients (median age 50 years). Common clinical manifestations included abnormal uterine bleeding and vaginal discharge, with a significant proportion presenting at advanced FIGO stages (II-IV). Histological features were characteristic, and immunohistochemistry, including markers like MUC6, p16, PAX8, and PAX2, was crucial for diagnosis and differential diagnosis. Molecular analysis of 11 cases revealed a distinct high-frequency somatic mutation profile, including TP53 (72.7%), KRAS (45.5%), SMAD4 (45.5%), CDKN2A (36.4%), PIK3CA (27.3%) and STK11 (18.2%). This profile showed molecular homology with pancreaticobiliary adenocarcinoma and was characterized by microsatellite stable (MSS) and low tumor mutational burden (TMB). Regarding molecular markers and prognosis, aberrant p53 expression was frequent (50%, 37/74) but showed no significant association with clinicopathological factors or survival outcomes (p > 0.05). In contrast, PD-L1 expression (CPS ≥ 1) was significantly associated with higher FIGO stage (p = 0.021) and shorter progression-free survival (PFS) (p = 0.046).</p><p><strong>Conclusions: </strong>GAS is a highly malignant, HPV-independent cervical adenocarcinoma characterized by atypical clinical symptoms and complex histology. This study, representing a large cohort from Northern China, provides comprehensive insights into its clinicopathological and molecular landscape. We characterized its unique molecular profile and, importantly, identified PD-L1 (CPS ≥ 1) as a potential prognostic marker associated with shorter PFS. These findings contribute to improving diagnosis, understanding biological behavior, and identifying potential therapeutic targets for this aggressive subtype.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"73"},"PeriodicalIF":2.4,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12150475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265605","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":"Large atypical perilobular hemangioma in the breast: a potential misdiagnosis as angiosarcoma.","authors":"Yani Wei, Min Li, Hongjun Li, Anjia Han, Huijuan Shi","doi":"10.1186/s13000-025-01668-5","DOIUrl":"10.1186/s13000-025-01668-5","url":null,"abstract":"<p><strong>Background: </strong>Atypical perilobular hemangioma (APH) of the breast is a rare type of tumor. This tumor is often small, measuring no more than 2 mm in diameter, difficult to detect or palpate, and has a good prognosis.</p><p><strong>Case presentation: </strong>We report a unique case of APH in a 47-year-old female patient, which was 12 mm in diameter and characterized by tumor cell atypia. To date, six cases of APH have been reported in the literature, including the present case. The mean age of the APH patients was 49.5 years (range: 39-75 years). The majority of APHs (4/6) in the breast were initially diagnosed as angiosarcoma. The tumor in our study presented diagnostic challenges as an atypical APH due to its substantial size (12 mm), the presence of indistinct borders in certain regions, an extensive growth pattern, the hobnail appearance of endothelial cells, and the mitotic count.</p><p><strong>Conclusion: </strong>In this study, we present this case to help with proper diagnosis and treatment of the tumor, to emphasize additional characteristics of APH, to summarize the clinicopathological features of this tumor as documented in the literature, and to enhance the understanding of this tumor type, particularly the differentiation between APH and low-grade angiosarcoma.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"72"},"PeriodicalIF":2.4,"publicationDate":"2025-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12144682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144246968","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":"Heterochronic pelvic high-grade myxoinflammatory fibroblastic sarcoma and uterine endometroid carcinoma harboring common gene mutations: a rare case report with genomic analysis.","authors":"Yuriko Higashi, Mika Mizuno, Ikumi Kitazono, Toshiaki Akahane, Takashi Tasaki, Hirotsugu Noguchi, Masanori Hisaoka, Hiroaki Kobayashi, Akihide Tanimoto","doi":"10.1186/s13000-025-01669-4","DOIUrl":"10.1186/s13000-025-01669-4","url":null,"abstract":"<p><strong>Objective: </strong>This report presents a rare case involving an extreme epithelial-to-mesenchymal transition, in which a specific type of sarcoma developed heterochronically as a recurrence of endometrioid carcinoma.</p><p><strong>Case presentation: </strong>A female in her 50's presented with abnormal genital bleeding, and an endometrial biopsy revealed endometrioid carcinoma. Following the diagnosis of stage IA endometrioid carcinoma according to the 2008 classification system of the International Federation of Gynecology and Obstetrics, a robot-assisted simple hysterectomy, bilateral salpingo-oophorectomy, and sentinel lymph node navigation surgery were performed. Six months postoperatively, a tumor mass developed in the pelvis. A transrectal needle biopsy revealed spindle cell proliferation, and pelvic tumor resection was conducted for diagnostic therapy. The patient received no adjuvant chemotherapy or radiotherapy after the second surgery and remained free of tumor recurrence for 8 months. The resected yellowish solid tumor mass, measuring 16 × 12 × 9 cm, exhibited hemorrhage, necrosis, and cystic degeneration and was composed of fascicular proliferation of spindle tumor cells showing nuclear pleomorphism and frequent mitotic figures within a myxoid and inflammatory stroma. No epithelial component or organoid patterns were observed. Immunohistochemically, the tumor cells were positive for factor XIIIa, CD10, and cyclin D1, but negative for keratins (AE1/AE3 and CAM5.2) and other specific markers, supporting a diagnosis of high-grade myxoinflammatory fibroblastic sarcoma (MIFS).</p><p><strong>Conclusion: </strong>Genomic analysis revealed identical mutations in PTEN, PIK3R1, CDKN2 A, and TP53 in both the primary uterine endometrioid carcinoma and heterochronic pelvic MIFS. An integrative approach involving histology, immunohistochemistry, and genomic analysis is critical for elucidating the pathogenesis of rare pelvic and uterine tumors.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"71"},"PeriodicalIF":2.4,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144215227","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":"High-accuracy prediction of mutations in nine genes in lung adenocarcinoma via two-stage multi-instance learning on large-scale whole-slide images.","authors":"Lingyu Zhao, Na Zhao, Ruiqi Zhong, Yiru Niu, Ziyi Chang, Peng Su, Zhihui Wang, Lifang Cui, Bei Wang, Huang Chen, Xiaowen Wang, Xiangbing Kong, Baolin Du, Fei Ren, Dingrong Zhong","doi":"10.1186/s13000-025-01663-w","DOIUrl":"10.1186/s13000-025-01663-w","url":null,"abstract":"<p><strong>Background: </strong>Lung cancer is widely recognized as a prevalent malignant neoplasm. Traditional genetic testing methods face limitations such as high costs and lengthy procedures. The prediction of clinically relevant genetic mutations via histopathological images could facilitate the expedited identification of genetic mutations in clinical settings.</p><p><strong>Methods: </strong>We collected 2,221 slides from 1999 patients diagnosed with lung adenocarcinoma. The data include whole-slide images data as well as information on gene mutations in EGFR, KRAS, ALK, HER2, and other rare genes (ROS1, RET, BRAF, PIK3CA, NRAS), and related clinical information. The self-supervised model DINO and the two-stage multi-instance network GAMIL were employed to accurately identify mutation statuses in 9 genes linked to tumorigenesis and cancer progression. The comparison of model performance involves the utilization of various foundation model (UNI), classification models (CLAM and Inception v3), external datasets (TCGA and other medical institutions), and comparative analysis with human pathologists.</p><p><strong>Results: </strong>Our approach outperforms the CLAM and inception v3 model, achieving AUC values ranging from 0.825 to 0.987 for predicting gene mutations. The AUC value on the external test data set is 0.516-0.843. Furthermore, when comparing EGFR gene mutation prediction between pathologists and the GAMIL model, GAMIL exhibited a significantly higher AUC value of 0.810, exceeding the average AUC value of 0.508 achieved by pathologists.</p><p><strong>Conclusion: </strong>The GAMIL models exhibit outstanding performance in delineating tumor regions in lung adenocarcinoma and in forecasting gene mutations. The utilization of these models presents substantial potential for markedly improving molecular testing efficiency and opening novel pathways for personalized treatment.</p><p><strong>Trial registration: </strong>Not applicable.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"70"},"PeriodicalIF":2.4,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12128265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144207979","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":"Pedunculated focal nodular hyperplasia: a case report, case series, and in-depth surgical, radiological, and histological analysis of a rare phenomenon.","authors":"Taylor Strange, Joseph M Gosnell, Peeyush Bhargava, Abdulrahman Al Harbi, Luca Cicalese, Heather L Stevenson","doi":"10.1186/s13000-025-01661-y","DOIUrl":"10.1186/s13000-025-01661-y","url":null,"abstract":"<p><strong>Background: </strong>Focal nodular hyperplasia (FNH) is a benign hepatic lesion that rarely presents as an exophytic mass attached by a fibrous stalk (termed pedunculated FNH). This variation poses a challenge to clinicians, with atypical symptoms and imaging.</p><p><strong>Case presentation: </strong>We describe a 33-year-old female who underwent excision of a pedunculated FNH. On gross examination, the lesion was lobular and vascular with homogenous tan-brown surfaces. Histological examination showed loss of normal liver architecture, abnormal intervening fibrous tracts, dysplastic arteries, and focal steatosis. Immunohistochemical staining with glutamine synthetase resulted in a branching, or \"map-like\" pattern. These findings were consistent with focal nodular hyperplasia. One of the most sensitive imaging techniques for diagnosing this lesion involves magnetic resonance imaging (MRI) with contrast, which discloses a homogenous mass that is hyperintense during the arterial phase with gradual decrease in intensity during the venous and equilibrium phases. The central stellate scar will often remain hyperintense for a prolonged period of time. On histology, normal hepatic architecture is lost to abnormal fibrotic bands and a characteristic stellate scar. Immunohistochemistry with glutamine synthetase uniquely highlights a map-like pattern that is not seen in other liver lesions.</p><p><strong>Conclusions: </strong>Due to its atypical presentation and increased risk of complications compared to its intrahepatic counterpart, pedunculated FNH brings unique challenges for diagnosis and therapy. Proper identification of pedunculated FNH is critical for appropriate treatment. Our case highlights the importance of radiological and histopathological studies to accurately identify this lesion, as well as the benefits of surgical removal to prevent serious complications.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"69"},"PeriodicalIF":2.4,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12125829/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186778","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":"Mutational analysis and protein expression of PI3K/AKT pathway in four mucinous cystadenocarcinoma of the breast.","authors":"Yan Zheng, Huaxiao Tang, Qian Liu, Yujie Zhang, Peng Zhao, Shukun Zhang, Chengqin Wang","doi":"10.1186/s13000-025-01650-1","DOIUrl":"10.1186/s13000-025-01650-1","url":null,"abstract":"<p><strong>Introduction: </strong>Primary mucinous cystadenocarcinoma of the breast (BMCA) is a rare neoplasm with few reports in the literature. Its molecular characteristics, prognosis, and treatment protocols are not well understood, and there is a lack of consensus concerning the optimal management of this condition.</p><p><strong>Methods: </strong>Four cases of clinical and pathological data were collected from 2018 to 2024. Next generation sequencing with a 654 cancer-associated gene panel was utilized to detect gene mutations. Immunohistochemistry was carried out to evaluate protein expression levels.</p><p><strong>Results: </strong>Firstly, we combined clinical imaging examinations and IHC to exclude the possibility of metastasis from ovarian or pancreatic origins. BMCA was composed of cystically dilated ducts lined by tall columnar mucin-containing epithelium. The morphological spectrum of MCA varied from MCA alone to MCA combined with carcinoma in situ (CIS) to MCA associated with invasive ductal carcinoma (IDC). ER/PR/HER2 and CK20 were all negative, while CK7 and GATA3 were positive by IHC in four cases. Although the prognosis of the other three patients was favorable during the follow-up periods of 13, 10, and 3 months, respectively, case 2# experienced a recurrence of the primary focus after 42 months. No lymphatic metastasis was identified in cases 1-4#. In addition, next-generation sequencing (NGS) identified 17 mutated genes and 25 mutation sites in four cases. TP53, PIK3CA, AKT, PTEN, and RB1 were the highest frequency mutated genes. Given that AKT mutations typically refer to AKT1(E17K) rather than AKT2 or AKT3, AKT protein expression was detected only in Case 2# (AKT1, E17K). PTEN protein was expressed in case 4# (corresponded to missense mutation), loss of PTEN expression were corresponding with splicing mutation in case1#. In brief, AKT and PTEN protein expression could be corresponded to gene mutation in a certain extent. However, PIK3CA protein expression was positive in Case 2# but negative in Case 1#, which did not fully accordance with the NGS-detected missense mutations. No associated germline variations were detected. Additionally, neither PDL-1 expression nor microsatellite instability-high (MSI-H) status was identified.</p><p><strong>Conclusion: </strong>The tumorigenesis and development of BMCA may be regulated to the PI3K/AKT pathway. Consequently, a comprehensive genetic analysis of more cases could elucidate the molecular mechanisms underlying this rare tumor.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"68"},"PeriodicalIF":2.4,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12121189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172990","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":"OCT4 and MENA immunoprofiling in salivary mucoepidermoid carcinoma.","authors":"Omnia Samir, Doaa A Farag, Khadiga M Ali, Lawahez El M Ismail","doi":"10.1186/s13000-025-01665-8","DOIUrl":"10.1186/s13000-025-01665-8","url":null,"abstract":"<p><strong>Background: </strong>Mucoepidermoid carcinoma (MEC) emblematizes the predominant malignant salivary gland neoplasm, characterized by its heterogeneous morphological features and diverse clinical representations. The expression patterns and prognostic significance of Octamer transcription factor 4 (OCT4) and Mammalian-enabled (MENA) protein in MEC perdure are incompletely described.</p><p><strong>Methods: </strong>Immunohistochemical analysis was performed on 46 archival MEC specimens and 5 normal salivary-gland controls. OCT4 and MENA staining were assessed histomorphometrically and correlated with clinicopathological parameters. Statistical analysis comprised Monte Carlo and Spearman's correlation tests.</p><p><strong>Results: </strong>OCT4 revealed selective cytoplasmic immunoreactivity in intermediate and epidermoid cells, without nuclear positivity. Strong OCT4 expression predominated in low-grade (66.7%), while high-grade MEC exhibited variable immunoreactivity, with 53% showing weak expression. No significant correlation was found between OCT4 expression and clinical or pathological data. MENA showed cytoplasmic and membranous immunolocalization, with expression patterns correlated significantly with age (p = 0.015), tumor size (p = 0.012), clinical stage (p = 0.004), and histological grading (p = 0.001). Spearman's correlation analysis revealed a weak, non-significant association between OCT4 and MENA expression (r = 0.05, p = 0.744).</p><p><strong>Conclusions: </strong>The differential expression patterns of OCT4 and MENA in MEC prognosticate distinct regulatory mechanisms. While OCT4 cytoplasmic expression may presage early involvement in carcinogenesis, MENA cellular expression portends potentially independent molecular pathways, possibly encompassing subnetworks in the Wnt/β-catenin and TGF-β signaling cascades. MENA may serve as a biomarker for predicting the aggressive behavior of MEC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"67"},"PeriodicalIF":2.4,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12108025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157389","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":"Human pegivirus detected in patient with reversible severe encephalitis and axillary lymphadenopathy: a case report.","authors":"Jianfeng He, Linwei Yang, Chen Niu","doi":"10.1186/s13000-025-01664-9","DOIUrl":"10.1186/s13000-025-01664-9","url":null,"abstract":"<p><p>Human pegivirus (HPgV) has been postulated as a potential etiological factor in encephalomyelitis and exhibits lymphotropic characteristics. However, the co-occurrence of encephalitis and lymphadenopathy with HPgV detected has never been reported. Herein, we report a case of a 48-year-old woman admitted with fever followed by sudden loss of consciousness. Radiological imaging demonstrated encephalitis and lymphadenopathy. Initial analysis of blood and cerebrospinal fluid (CSF) failed to reveal specific etiology. The only pathogen found in CSF was later determined to be HPgV using metagenomic next-generation sequencing (mNGS). After receiving treatment with acyclovir, meropenem, and ceftriaxone sodium, the patient fully recovered. This case contributes additional evidence in support of the hypothesis regarding the pathogenic potential of HPgV and highlights the diagnostic utility of mNGS in detecting rare pathogens.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"66"},"PeriodicalIF":2.4,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107937/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157373","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":"A locally aggressive pelvic MEIS1::NCOA1 fusion sarcoma in a young adult female: a case report and review of the literature.","authors":"Madhurya Ramineni, Youngeun C Armbuster, Hani Katerji, Wei Huang, Jamie L McDowell, Xi Wang","doi":"10.1186/s13000-025-01656-9","DOIUrl":"10.1186/s13000-025-01656-9","url":null,"abstract":"<p><p>MEIS1::NCOA1/2 fusions have been identified in spindle cell tumors of the gynecologic and genitourinary tracts, as well as in two cases of intraosseous spindle cell rhabdomyosarcomas. These tumors typically exhibit an infiltrative growth pattern characterized by short fascicles of monomorphic, plump spindle cells. Their immunoprofile is nonspecific, often demonstrating focal and variable expression of ER, PR, CD10, and cyclin D1. Depending on their location, these tumors are frequently diagnosed as low-grade endometrial stromal sarcomas or undifferentiated uterine or renal sarcomas. While they generally exhibit low malignant potential with multiple local recurrences, two cases with high-grade morphology and lung metastases have been reported. Here, we describe a case of pelvic low-grade spindle cell sarcoma in a 19-year-old woman characterized by strong diffuse ER/PR expression and focal CD10 positivity. Next-generation sequencing revealed a MEIS1::NCOA1 fusion without additional genetic alterations. She presented with extensive local disease throughout the abdomen, while the uterus and adnexa appeared normal intraoperatively.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"65"},"PeriodicalIF":2.4,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149750","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":"Complex papillary hyperplasia of the endometrium: an uncommon case report with cytopathological features and diagnostic implications.","authors":"Renjie Wang, Yinghong Wu, Zhihong Jia","doi":"10.1186/s13000-025-01667-6","DOIUrl":"10.1186/s13000-025-01667-6","url":null,"abstract":"<p><strong>Background: </strong>Complex papillary hyperplasia of the endometrium (CPHE) is a rare benign lesion with overlapping features of malignancy, posing significant diagnostic challenges. This case highlights the importance of multidisciplinary evaluation to avoid misdiagnosis and overtreatment.</p><p><strong>Case presentation: </strong>A 49-year-old premenopausal woman presented with irregular vaginal bleeding. Histopathological examination revealed multifocal lesions confined within and on the surface of endometrial polyps, exhibiting complex papillary structures with bland cytology. Immunohistochemistry showed strong ER/PR positivity and retained PTEN expression, while molecular analysis confirmed the absence of high-risk mutations (PTEN, PIK3CA, TP53, CTNNB1).</p><p><strong>Conclusions: </strong>CPHE requires integration of histopathology, immunohistochemistry, and molecular diagnostics to distinguish it from malignancies. Conservative management is justified in molecularly confirmed cases.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"63"},"PeriodicalIF":2.4,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149752","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}