Diagnostic Pathology最新文献

{"title":"A rare case of Alveolar Soft-Part Sarcoma in the Uterine cervix.","authors":"Mei Du, Yanli Li, Xiaorong Fan, Han Gao, Jie Shi, Shiyu Cheng, Tingzhu Meng","doi":"10.1186/s13000-025-01620-7","DOIUrl":"10.1186/s13000-025-01620-7","url":null,"abstract":"<p><p>Alveolar soft-part sarcoma (ASPS), a rare and malignant neoplasm of soft tissues, comprises less than 1% of all soft-tissue sarcomas and is characterized by distinct histopathological and molecular markers. A 27-year-old female presented with a history of postcoital vaginal bleeding and intermittent bleeding over the preceding month. Imaging studies identified abnormal echogenicity and vascular patterns in the posterior cervical lip. Initial histopathological assessment indicated a perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement; however, subsequent immunohistochemical and molecular analyses corroborated the diagnosis of ASPS. The patient underwent a total laparoscopic hysterectomy with bilateral salpingo-oophorectomy. Postoperative pathology revealed that the residual tumor was confined to the inner third of the cervix, with no evidence of lymphovascular or perineural invasion. The patient did not receive adjuvant therapy and was followed for three months postoperatively, during which no recurrence or metastasis was observed. Given the extreme rarity of ASPS, its diagnosis necessitates meticulous scrutiny by pathologists to inform and guide subsequent therapeutic approaches.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"33"},"PeriodicalIF":2.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11963694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771500","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":"The morphological characteristics and arrangements of cells in the liquid-based cytology preparation of patients with endometrial lesions.","authors":"Ming-Zhe Wu, Na-Jin Gu, Ming-Ming Xiao, Dong-Ge Liu, Mu-Lan Jin, Xu-Yan Liu, Jian Wang, Hong-Tao Xu, Yi Zhang, Guang-Ping Wu","doi":"10.1186/s13000-025-01631-4","DOIUrl":"10.1186/s13000-025-01631-4","url":null,"abstract":"<p><strong>Background: </strong>The accurate cytological diagnosis of endometrial carcinomas by minimally invasive method has a broad application. There are several articles described the morphological characteristics but not arrangements of endometrial lesion cells on LBC slides.</p><p><strong>Methods: </strong>A retrospective study was conducted using 175 endometrial samples obtained by direct negative pressure suction with disposable endometrial sampler. All lesions were diagnosed both cytologically and histologically, and the diagnostic results were compared and analyzed.</p><p><strong>Results: </strong>The cytological diagnoses of polyps, simple or complex hyperplasia, and atypical hyperplasia were highly consistent with the histological diagnosis. The cytological features of polyps and normal endometrium, as well as simple and complex hyperplasia, are the same. Among 82 cases of histologically confirmed adenocarcinoma, the cytological diagnosis were adenocarcinoma cells (46 cases, 56.10%), suspected for adenocarcinoma cells (22 cases, 26.83%), and false negative (14 cases,17.07%). Retrospective reviewing the slide suggest diagnostic parameters such as significantly enlarged nuclei, multistage papillary arrangements, large and numerous nucleoli, and large vacuoles containing neutrophils in the cytoplasm are reliable diagnostic criteria for endometrial carcinoma cells; on the other hand, ignorance of lobulated arrangements and escaped arrangements are the main reasons for missed diagnosis.</p><p><strong>Conclusions: </strong>The cytological diagnosis of endometrial lesions not only depends on the morphological characteristics of cells, but also need careful observations of the cellular arrangements.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"32"},"PeriodicalIF":2.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11963423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763332","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 case of quadruple wild-type gastrointestinal stromal tumor with CDC42BPB::NTRK3 fusion and abundant lymphoid infiltration.","authors":"Wentao Xiang, Wei Yuan, Lei Ren, Wen Huang, Huaiyu Liang, Jie Huang, Lijuan Luan, Chen Xu, Yingyong Hou","doi":"10.1186/s13000-025-01630-5","DOIUrl":"10.1186/s13000-025-01630-5","url":null,"abstract":"<p><p>Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. The most common mutations in GISTs are those in receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor alpha (PDGFRA). GISTs without KIT or PDGFRA mutations are defined as wild-type (WT) GISTs. The molecular changes, prognosis, and treatments of WT GISTs remain uncertain. Among WT GISTs, neurotrophic tyrosine receptor kinase (NTRK) fusions have rarely been reported. We report a case of quadruple wild-type GIST harboring a novel CDC42BPB::NTRK3 fusion. In this study, we described a 66-year-old male patient with intrajejunal lesion. This case showed massive lymphocytic and plasma cell infiltration, which caused diagnostic difficulties in morphology. CDC42BPB::NTRK3 fusion was detected via next-generation sequencing (NGS), and this finding was confirmed by fluorescence in situ hybridization (FISH), which revealed NTRK3 breakage. However, the expression of the Trk protein in tumor tissue was not detected by immunohistochemistry (IHC). This finding expands the genetic spectrum of NTRK rearrangements in GISTs.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"31"},"PeriodicalIF":2.4,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11934696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709011","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":"Correction: An extralingual Ectomesenchymal chondromyxoid tumor with RREB1::MRTFB fusion: a rare case report of plantar fascia involvement.","authors":"Yu Deng, Wei Liu, Ke Sun","doi":"10.1186/s13000-025-01629-y","DOIUrl":"10.1186/s13000-025-01629-y","url":null,"abstract":"","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"30"},"PeriodicalIF":2.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11927309/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143676892","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":"Overcoming missed diagnoses of primary central nervous system Lymphoma-The key role of cerebrospinal fluid cytology: a case report.","authors":"Siqi Zhu, Juan Jin, Xinxin Wang, Hong Xu, Fuxian Zhou, Yuyi Lai, Daojun Yu, Yuli Zhou","doi":"10.1186/s13000-025-01626-1","DOIUrl":"10.1186/s13000-025-01626-1","url":null,"abstract":"<p><strong>Background: </strong>Central nervous system (CNS) involvement in diffuse large B-cell lymphoma (DLBCL) is relatively rare, occurring at a rate of approximately 5%. Primary CNS lymphoma (CNS-DLBCL), a subtype of DLBCL, is rare clinically but highly malignant and invasive. Its atypical clinical symptoms and imaging features contribute to a high rate of misdiagnosis and a poor prognosis. Thus, early and accurate diagnosis is imperative for improving the patient's prognosis. Cerebrospinal fluid (CSF) cytology, a rapid and convenient diagnostic method, plays a crucial role in diagnosing intracranial tumors.</p><p><strong>Case presentation: </strong>In this instance, the patient presented with nonspecific early symptoms and exhibited atypical imaging findings. A lumbar puncture performed at another hospital yielded a low cell count in the CSF, leading to an incorrect diagnosis. Upon admission to our hospital, CSF cytology identified abnormal cells. A definitive diagnosis of CNS-DLBCL was established utilizing additional diagnostic methods, facilitating targeted treatment.</p><p><strong>Conclusions: </strong>This case underscores the pivotal role of CSF cytology in rapidly guiding the differential diagnosis of intracranial tumors and underscores the necessity of training laboratory personnel in morphological examination.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"29"},"PeriodicalIF":2.4,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633772","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 rare case of rib chondrosarcoma with purely mesenchymal cells metastases to thyroid.","authors":"Jia Wang, Fang Mei, Mingcheng Li, Shibing Song, Xin Li","doi":"10.1186/s13000-025-01612-7","DOIUrl":"10.1186/s13000-025-01612-7","url":null,"abstract":"<p><p>Metastasis to the thyroid gland is uncommon. The most common malignant tumors that metastasize to the thyroid gland include renal cell carcinoma, colorectal cancer, lung cancer, and breast cancer. Metastasis of chondrosarcoma to thyroid is extremely rare.We describe a rare case of rib chondrosarcoma metastases to the thyroid gland. We reviewed patient characteristics, histological presentations, treatments, time of recurrence on chondrosarcoma, and metastasis situation. Additionally, we review all English articles reporting cases of chondrosarcoma metastasis to the thyroid gland that have been published in Embase, PubMed, and ISI WEB of Science databases (1981-2023) in this paper.Only 7 cases of chondrosarcoma metastasis to the thyroid have been reported, including one report written in French. (Otmany et al. in Médecine Du Maghreb 53-54, 2001). We found that most patients are female adults, with compression signs or pain, most of whose metastases occurred after several years, and whom have poor prognoses. The main examinations are CT and ultrasound, the primary treatment is surgery, and the major pathological characteristic is coexistence of chondrocytes and mesenchymal cells.The case we describe here is the first report of mesenchymal chondrosarcoma metastasis to the thyroid gland with only pure mesenchymal cells and no chondrocytes. Moreover, these rare cases highlight the necessary of communication between radiologists, histopathologists, and clinicians. It is meaningful to acquaint previous malignant tumor for diagnosing the metastases to the thyroid gland.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"27"},"PeriodicalIF":2.4,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585129","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":"Advanced pathological subtype classification of thyroid cancer using efficientNetB0.","authors":"Hongpeng Guo, Junjie Zhang, You Li, Xinghe Pan, Chenglin Sun","doi":"10.1186/s13000-025-01621-6","DOIUrl":"10.1186/s13000-025-01621-6","url":null,"abstract":"<p><strong>Background: </strong>Thyroid cancer is a prevalent malignancy requiring accurate subtype identification for effective treatment planning and prognosis evaluation. Deep learning has emerged as a valuable tool for analyzing tumor microenvironment features and distinguishing between pathological subtypes, yet the interplay between microenvironment characteristics and clinical outcomes remains unclear.</p><p><strong>Methods: </strong>Pathological tissue slices, gene expression data, and protein expression data were collected from 118 thyroid cancer patients with various subtypes. The data underwent preprocessing, and 10 AI models, including EfficientNetB0, were compared. EfficientNetB0 was selected, trained, and validated, with microenvironment features such as tumor-immune cell interactions and extracellular matrix (ECM) composition extracted from the samples.</p><p><strong>Results: </strong>The study demonstrated the high accuracy of the EfficientNetB0 model in differentiating papillary, follicular, medullary, and anaplastic thyroid carcinoma subtypes, surpassing other models in performance metrics. Additionally, the model revealed significant correlations between microenvironment features and pathological subtypes, impacting disease progression, treatment response, and patient prognosis.</p><p><strong>Conclusion: </strong>The research establishes the effectiveness of the EfficientNetB0 model in identifying thyroid cancer subtypes and analyzing tumor microenvironment features, providing insights for precise diagnosis and personalized treatment. The results enhance our understanding of the relationship between microenvironment characteristics and pathological subtypes, offering potential molecular targets for future treatment strategies.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"28"},"PeriodicalIF":2.4,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11887243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143585130","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":"Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.","authors":"Atif Ali Hashmi, Edi Brogi, Hannah Y Wen","doi":"10.1186/s13000-025-01623-4","DOIUrl":"10.1186/s13000-025-01623-4","url":null,"abstract":"<p><strong>Introduction: </strong>Breast cancer, especially triple-negative breast cancer (TNBC), lacks sensitive and specific diagnostic markers that can reliably differentiate it from carcinomas of other origins. TRPS1 is a relatively new immunohistochemical (IHC) marker that has demonstrated higher sensitivity in breast cancer, including TNBC. However, with the increasing use of this marker, broader immunoreactivity has been observed. This study aims to evaluate the utility of TRPS1 for establishing carcinoma of mammary origin. We compared the diagnostic sensitivity and specificity of TRPS1 with that of other IHC markers (GATA3 and SOX10).</p><p><strong>Methods: </strong>In this retrospective study, we reviewed TRPS1 IHC performed at our center between 07/2022 and 06/2024, to evaluate the expression of TRPS1 in breast carcinoma (primary and distant metastasis) and in other malignancies. The sensitivity and specificity of TRPS1 in determining carcinoma of breast origin were compared with those of GATA3 and SOX10.</p><p><strong>Results: </strong>The study cohort comprised 106 cases, including 17 cases at the primary site, and 89 samples of distant metastasis. After correlation with morphology, immunophenotype and molecular studies, 94 cases (88.7%) were characterized as breast primary (37.9% ER+/HER2neu-, 4.6% ER-/HER2neu+, 1.1% ER+/HER2neu+, 56.3% TNBC), whereas 12 (11.3%) were non-breast primary. The non-breast primary sites included lung, bladder, Mullerian, and gastrointestinal. The sensitivity and specificity of TRPS1 were 93.6% and 58.3%, respectively. Conversely, GATA3 demonstrated a sensitivity and specificity of 76.9% and 66.7%, respectively. SOX10 exhibited the lowest sensitivity at 47.9%, but with the highest specificity at 100%. There were three cases of metastatic breast carcinoma (sites: bladder, lung, and bone), where TRPS1 was the only positive marker, whereas GATA3 and SOX10 were negative. TRPS1 showed a higher positivity rate (92.0%) in TNBC compared to GATA3 (63.4%) and SOX10 (56.7%). TRPS1 expression was also observed in other tumor types, including carcinoma of Mullerian origin, bladder, and lung, limiting its utility in the differential diagnosis.</p><p><strong>Conclusion: </strong>Our study demonstrated a higher sensitivity of TRPS1 expression in establishing carcinoma of breast origin compared with GATA3 and SOX10, consistent with previous reported studies. However, the specificity of TRPS1 was lower than that of GATA3 and SOX10. These findings suggest that while TRPS1 can be used as a reliable marker for breast cancer, its expression in other tumor types should be carefully interpreted to avoid diagnostic pitfalls.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"26"},"PeriodicalIF":2.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536790","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":"Perinephric myxoid pseudotumor of fat - histopathological and molecular characterization of 3 cases after renal transplantation.","authors":"Christina Schnoz, Marco Bonani, Florian Alexander Huber, Birgit Maria Helmchen, Thomas Fehr, Beata Bode-Lesniewska, Chantal Pauli, Ariana Gaspert","doi":"10.1186/s13000-025-01615-4","DOIUrl":"10.1186/s13000-025-01615-4","url":null,"abstract":"<p><strong>Background: </strong>Perinephric myxoid pseudotumor of fat (PMPF) is a rare benign pseudo-neoplastic proliferation of the perinephric and renal sinus adipose tissue. Its pathogenesis is thought to be a reactive process typically associated with neoplastic and non-neoplastic end-stage kidney disease. The distinctive histopathological feature of PMPF is a myxoid process comprising bland, spindled stromal cells interspersed with mature adipose tissue. Macroscopically, it is characterized by tumorous lipomatous remodeling of the kidney, which may raise concerns of malignancy on imaging. To date, only seven cases of PMPF have been documented in the context of kidney transplantation.</p><p><strong>Case presentation: </strong>This report describes three cases of PMPF in patients following renal transplantation, involving both native and grafted kidneys. Macroscopically, all cases consisted of shrunken kidneys with thinned and atrophic renal parenchyma surrounded by massively hypertrophic perirenal fat with mass-forming nodules, which was in concordance with cross sectional imaging findings acquired before surgery. Histology of the remaining renal parenchyma showed end stage renal disease in all four surgically removed kidneys, with diffuse interstitial fibrosis, tubular atrophy and sclerosed glomeruli. Perirenal adipose tissue consisted of mature fat with areas of significant myxoid and collagenous stromal component, interspersed with bland spindle and stellate-shaped cells. Immunohistochemistry for S100, smooth muscle actin, desmin and IgG4 were negative. No MDM2 gene amplification was identified by fluorescence in situ hybridization. Broad molecular profiling using the FoundationOne^®Heme assay revealed no evidence of pathogenic alterations on DNA and RNA levels.</p><p><strong>Conclusion: </strong>PMPF is a rare benign condition typically associated with chronic kidney disease, occurring late in the course. The radiological findings may be mistaken for those of a malignant tumor, and histopathological examination is required to exclude a malignant neoplasm, in particular a well-differentiated or dedifferentiated liposarcoma of the retroperitoneum. Renal transplant recipients can be affected by PMPF, which can occur in both native and transplanted kidneys several years following renal transplantation.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"25"},"PeriodicalIF":2.4,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11872312/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536789","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":"An extralingual Ectomesenchymal chondromyxoid tumor with RREB1::MRTFB fusion: a rare case report of plantar fascia involvement.","authors":"Yu Deng, Wei Liu, Ke Sun","doi":"10.1186/s13000-025-01622-5","DOIUrl":"10.1186/s13000-025-01622-5","url":null,"abstract":"<p><strong>Background: </strong>Ectomesenchymal chondromyxoid tumor (ECT) is a rare benign intraoral tumor that almost exclusively presents as a small mass on the anterior dorsal tongue. Recently, the ras-responsive element-binding protein 1::myocardin-related transcription factor B (RREB1::MRTFB; previously known as MKL2) fusion gene has been identified in 90% of ECTs, all localized to the tongue, highlighting its genetic distinctiveness. Herein, we report a mesenchymal tumor involving the plantar fascia of the left foot in a young woman, harboring the RREB1::MRTFB fusion gene.</p><p><strong>Case presentation: </strong>The tumor presented as a well-circumscribed mass. Following complete excision, no recurrence was observed at the six-month follow-up. Histological examination revealed tumor cells exhibiting mild nuclear atypia and very low mitotic activity. Immunohistochemical analysis showed diffuse positive staining for S100, glial fibrillary acidic protein (GFAP), and CD56, variable expression of smooth muscle actin, and negative staining for SOX10 and P63. Targeted RNA sequencing identified RREB1 (exon 8)-MRTFB (exon 11) fusion transcripts. Collectively, these findings suggest the possibility of a previously unreported extralingual ECT involving the plantar fascia. However, its atypical morphology and uncommon anatomical location posed significant diagnostic challenges.</p><p><strong>Conclusions: </strong>We report, for the first time, a mesenchymal chondromyxoid tumor with an RREB1::MRTFB fusion gene occurring in the foot. This case expands the known distribution of ECT beyond the tongue. Accurate differential diagnosis should rely on thorough histological assessment, combined with immunohistochemical and molecular analyses.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"24"},"PeriodicalIF":2.4,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11869648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531263","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}