Diagnostic Pathology最新文献

{"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}

{"title":"Immunohistochemical profile of non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) versus other thyroid follicular lesions.","authors":"Rehab Monir Samaka, Aiat Shaban Hemida, Hagar Alfouly, Mona A Kora","doi":"10.1186/s13000-025-01660-z","DOIUrl":"10.1186/s13000-025-01660-z","url":null,"abstract":"<p><strong>Background: </strong>A follicular thyroid tumour called Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) poses crossing-over morphologic characteristics with more thyroid follicular lesions whether benign or cancerous nodules. This study focuses on analysing the expression of CD56, HBME-1, RRM2 and APLP2 IHC markers in NIFTP versus other thyroid follicular lesions and their diagnostic validity was also evaluated.</p><p><strong>Methods: </strong>one hundred and nine thyroidectomy specimens including 31 NIFTP, 34 non-neoplastic, 34 papillary thyroid carcinoma (PTC) and 10 invasive encapsulated follicular variant papillary thyroid carcinoma (IEFVPTC) cases, were acquired between 2019 and 2022 from the Menoufia University's Faculty of Medicine's Pathology Department. Tissue microarray construction (TMA) blocks were prepared and CD56, HBME-1, RRM2 and APLP2 immunostaining were performed.</p><p><strong>Results: </strong>For CD56, 64.5% of NIFTP, 97.1% of the non-neoplastic group and 0% of both PTC and IEFVPTC were positive. For HBME-1, 61.3% of NIFTP, 0% of non-neoplastic, 100% of PTC and 100% of IEFVPTC were positive. For RRM2, all cases of NIFTP and the non-neoplastic group were negative, 88.2% of PTC and 100.0% of IEFVPTC were positive. For APLP2, 90.3% of NIFTP, 100% of the non-neoplastic group, 100% of PTC and 100% of IEFVPTC were positive. In differentiating NIFTP from non-neoplastic cases, the most sensitive marker was CD56 at H-score < 225 (sensitivity 95%) and the most specific was HBME-1 (specificity 100%). In various combinations, the panel of combined HBME-1 with either CD56 or APLP-2 improves their specificity (96.67% and 100% respectively) and the diagnostic accuracy (86.79 and 83.87, respectively) and therefore, combined HBME-1 and CD56 seems to be the most significant than using a single marker. In differentiation between NIFTP and PTC/IEFVPTC, the most sensitive marker was RRM2 (100% sensitivity for both groups) with the highest diagnostic accuracy (93.85% and 100%, respectively) and the most specific was CD56 (specificity 100% for both groups).</p><p><strong>Conclusions: </strong>Immunohistochemical markers such as CD56, HBME-1, RRM2, and APLP2 may aid in the diagnosis of NIFTP and its distinction from other follicular lesions.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"64"},"PeriodicalIF":2.4,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12105278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149684","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 novel KRAS exon 2 drop-off digital PCR assay for mutation detection in cell-free DNA of cancer patients.","authors":"Bianca Addamo-De Nard, Meret Geissmann, Dilara Akhoundova, Clelia Pistoni, Tomas Brezina, Martin Zoche, Achim Weber, Saskia Hussung, Ralph Fritsch","doi":"10.1186/s13000-025-01637-y","DOIUrl":"10.1186/s13000-025-01637-y","url":null,"abstract":"<p><strong>Background: </strong>KRAS exon 2 mutations are highly prevalent in human malignancies, making them attractive targets for detection and monitoring in cell-free DNA (cfDNA) of cancer patients. Drop-off assays designed for digital polymerase chain reaction (ddPCR drop-off) span entire mutational hotspots and detect any mutated allele within the covered region, overcoming a major limitation of mutation-specific ddPCR assays. We therefore set out to develop a novel KRAS codon 12/13 ddPCR drop-off assay for the robust, highly sensitive and specific detection of KRAS exon 2 hotspot mutations in cfDNA.</p><p><strong>Methods: </strong>We designed, optimized and extensively validated a KRAS codon 12/13 ddPCR drop-off assay. We compared assay performance to a commercially available KRAS multiplex assay. For clinical validation, we analyzed plasma samples collected from patients with KRAS-mutated gastrointestinal malignancies.</p><p><strong>Results: </strong>Limit of detection of the newly established ddPCR drop-off assay was 0.57 copies/µL, limit of blank was 0.13 copies/µ. The inter-assay precision (r²) was 0.9096. Our newly developed KRAS ddPCR drop-off assay accurately identified single nucleotide variants in 35/36 (97.2%) of circulating tumor DNA-positive samples from the patient validation cohort. Assay cross-validation showed that the newly established KRAS codon 12/13 ddPCR drop-off assay outperformed a commercially available KRAS multiplex ddPCR assay in terms of specificity. Moreover, the newly developed assay proved to be suitable for multiplexing with mutation-specific probes.</p><p><strong>Conclusion: </strong>We developed and clinically validated a highly accurate ddPCR drop-off assay for KRAS exon 2 hot-spot detection in cfDNA with broad applicability for clinic and research.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"62"},"PeriodicalIF":2.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12103757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141732","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":"\"Colon\"ised by the unexpected: a case of extrauterine epithelioid trophoblastic tumour.","authors":"Shalini Radhakrishnan, Nischitha N Suvarna, Saraswathy Sreeram, Srirama Bhat","doi":"10.1186/s13000-025-01617-2","DOIUrl":"10.1186/s13000-025-01617-2","url":null,"abstract":"<p><strong>Introduction: </strong>Extrauterine epithelioid trophoblastic tumour is an exceedingly rare and aggressive form of gestational trophoblastic disease that arises outside the uterus and is characterised by the proliferation of intermediate trophoblastic cells. Unlike more common forms of gestational trophoblastic diseases, such as hydatidiform moles and choriocarcinoma, this entity presents unique diagnostic and therapeutic challenges due to its atypical location and clinical features. Thus far, no documented cases of this entity have been reported in the colon.</p><p><strong>Case presentation: </strong>We report the case of a 42-year-old woman who presented with complaints of lower abdominal pain and a palpable mass in the left iliac fossa, initially suspected to be an ectopic pregnancy. On radiological evaluation, a provisional diagnosis of gastrointestinal stromal tumour was made, following which the patient underwent a left colectomy with resection and anastomosis, and the excised specimen on comprehensive histopathological and immunohistochemical analysis was diagnosed as a case of extrauterine epithelioid trophoblastic tumour. However, the patient's condition deteriorated, and she succumbed to the disease one month after the diagnosis.</p><p><strong>Conclusion: </strong>The rarity of extrauterine trophoblastic tumours contributes to limited clinical experience and treatment protocols, resulting in poor prognoses. This case report highlights the importance of histopathological examination for a confirmatory diagnosis, ensuring timely identification and improving patient outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"61"},"PeriodicalIF":2.4,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12102896/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144141718","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}