Diagnostic Pathology最新文献

筛选
英文 中文
A rare case of rib chondrosarcoma with purely mesenchymal cells metastases to thyroid.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-03-07 DOI: 10.1186/s13000-025-01612-7
Jia Wang, Fang Mei, Mingcheng Li, Shibing Song, Xin Li
{"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}
引用次数: 0
Advanced pathological subtype classification of thyroid cancer using efficientNetB0.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-03-07 DOI: 10.1186/s13000-025-01621-6
Hongpeng Guo, Junjie Zhang, You Li, Xinghe Pan, Chenglin Sun
{"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}
引用次数: 0
Trichorhinophalangeal syndrome type 1 (TRPS1) in breast pathology: diagnostic utility and pitfalls.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-03-01 DOI: 10.1186/s13000-025-01623-4
Atif Ali Hashmi, Edi Brogi, Hannah Y Wen
{"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}
引用次数: 0
Perinephric myxoid pseudotumor of fat - histopathological and molecular characterization of 3 cases after renal transplantation.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-03-01 DOI: 10.1186/s13000-025-01615-4
Christina Schnoz, Marco Bonani, Florian Alexander Huber, Birgit Maria Helmchen, Thomas Fehr, Beata Bode-Lesniewska, Chantal Pauli, Ariana Gaspert
{"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<sup>®</sup>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}
引用次数: 0
An extralingual Ectomesenchymal chondromyxoid tumor with RREB1::MRTFB fusion: a rare case report of plantar fascia involvement. RREB1::MRTFB融合的外生软骨瘤:一例罕见的足底筋膜受累病例报告。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-28 DOI: 10.1186/s13000-025-01622-5
Yu Deng, Wei Liu, Ke Sun
{"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}
引用次数: 0
Dedifferentiated liposarcoma with extensive cystic change causing significant diagnostic challenges: report of two cases and review of the literature.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-27 DOI: 10.1186/s13000-025-01619-0
Viola Katharina Vetter, Perparim Limani, Falko Ensle, Michelle Leanne Brown, Lorenz Bankel, Marco Matteo Bühler, Chantal Pauli
{"title":"Dedifferentiated liposarcoma with extensive cystic change causing significant diagnostic challenges: report of two cases and review of the literature.","authors":"Viola Katharina Vetter, Perparim Limani, Falko Ensle, Michelle Leanne Brown, Lorenz Bankel, Marco Matteo Bühler, Chantal Pauli","doi":"10.1186/s13000-025-01619-0","DOIUrl":"10.1186/s13000-025-01619-0","url":null,"abstract":"<p><strong>Background: </strong>Retroperitoneal dedifferentiated liposarcoma is a rare, aggressive malignancy, characterized by high rates of recurrences and the potential for metastasis. On imaging, these tumors typically present as a solid mass with lipomatous and non-lipomatous components. Cystic changes of dedifferentiated liposarcomas is exceedingly rare and might pose significant diagnostic challenges, with only a few cases reported in the literature. REPORT OF 2 CASES: We here present two cases of retroperitoneal dedifferentiated liposarcoma with a rare cystic presentation in two female patients aged 51 and 62 years. Imaging revealed large perinephric cystic masses measuring up to 13.0 cm and 16.1 cm, respectively, with calcifications of the cyst wall observed in the second case. Differential diagnoses included cystic echinococcosis, mesenchymal neoplasms, and benign cystic lesions (e.g. endometrial cyst). Both patients underwent upfront compartmental en-bloc surgical resection of the tumor mass and the kidney after multidisciplinary tumor board (MDT) discussion. Macroscopically, the tumors were adherent to but sharply demarcated from the kidney. Histological examination of the first case revealed a small component of well-differentiated liposarcoma (WDLPS) adjacent to a large non-lipogenic sarcoma with a prominent whirling pattern, compatible with dedifferentiation. The second case demonstrated a spindle cell neoplasm with prominent osteosarcomatous heterologous differentiation. MDM2 amplification was confirmed in both cases by molecular testing. No long-term follow-up data is available for either patient.</p><p><strong>Conclusion: </strong>In conclusion, these cases highlight the importance of recognizing unusual and extensive cystic changes of dedifferentiated liposarcoma, which can complicate the diagnostic work-up.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"23"},"PeriodicalIF":2.4,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11866618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143522955","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Annotation-free genetic mutation estimation of thyroid cancer using cytological slides from multi-centers.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-21 DOI: 10.1186/s13000-025-01618-1
Siping Xiong, Shuguang Liu, Wei Zhang, Chao Zeng, Degui Liao, Tian Tang, Shimin Wang, Yimin Guo
{"title":"Annotation-free genetic mutation estimation of thyroid cancer using cytological slides from multi-centers.","authors":"Siping Xiong, Shuguang Liu, Wei Zhang, Chao Zeng, Degui Liao, Tian Tang, Shimin Wang, Yimin Guo","doi":"10.1186/s13000-025-01618-1","DOIUrl":"10.1186/s13000-025-01618-1","url":null,"abstract":"<p><p>Thyroid cancer is the most common form of endocrine malignancy and fine needle aspiration (FNA) cytology is a reliable method for clinical diagnosis. Identification of genetic mutation status has been proved efficient for accurate diagnosis and prognostic risk stratification. In this study, a dataset with thyroid cytological images of 310 indeterminate (TBS3 or 4) and 392 PTC (TBS5 or 6) was collected. We introduced a multimodal cascaded network framework to estimate BARF V600E and RAS mutations directly from thyroid cytological slides. The area under the curve in the external testing set achieved 0.902 ± 0.063 and 0.801 ± 0.137 AUCs for BRAF, and RAS, respectively. The results demonstrated that deep neural networks have the potential in cytologically predicting valuable diagnosis and comprehensive genetic status.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"22"},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11846261/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Whole exome sequencing identified mutations of forkhead box I 1 (FOXI1), keratin 6 C (KRT6C) and gap junction protein delta 2 (GJD2) in a low-grade oncocytic tumor of the kidney: a case report.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-21 DOI: 10.1186/s13000-025-01616-3
Akinari Kakumoto, Koichi Nishimura, Daisuke Toki, Rika Kasajima, Hajime Kuroda, Yoji Nagashima, Tsunenori Kondo, Yohei Miyagi, Atsuko Masunaga
{"title":"Whole exome sequencing identified mutations of forkhead box I 1 (FOXI1), keratin 6 C (KRT6C) and gap junction protein delta 2 (GJD2) in a low-grade oncocytic tumor of the kidney: a case report.","authors":"Akinari Kakumoto, Koichi Nishimura, Daisuke Toki, Rika Kasajima, Hajime Kuroda, Yoji Nagashima, Tsunenori Kondo, Yohei Miyagi, Atsuko Masunaga","doi":"10.1186/s13000-025-01616-3","DOIUrl":"10.1186/s13000-025-01616-3","url":null,"abstract":"<p><strong>Background: </strong>Low-grade oncocytic tumor (LOT) of the kidney is an emerging entity among renal oncocytic tumors. While the histological features of LOT of the kidney are similar to those of renal oncocytoma, LOT immunohistochemically expresses keratin 7 (KRT7) but not KIT while renal oncocytoma expresses KIT. Molecular analyses of LOTs of the kidney using next generation sequencing revealed those tumors harbor mutations of mTOR-related genes.</p><p><strong>Case presentation: </strong>An 80-year-old Japanese man with a history of clear cell renal cell carcinoma and prostatic cancer underwent resection of the tumor of the right kidney, 10 mm in diameter, which was monitored for six years. The tumor was histologically composed of oncocytic cells that expressed KRT7, vimentin, SDHA, SDHB and fumarate hydratase, but not KIT, GATA3 and alpha-methylacyl-CoA racemase. We diagnosed the tumor as LOT of the kidney. Whole-exome sequencing of the LOT revealed single nucleotide variants in the DNA-binding region of forkhead box I1 (FOXI1), the coil 1B domain of keratin 6 C (KRT6C) and the intracytoplasmic region of gap junction delta 2 (GJD2), which encodes connexin 36. However, there was no mutations in mTOR-related genes. No copy number alterations were detected in the tumor.</p><p><strong>Conclusions: </strong>We report three mutations in genes that have not been previously reported in LOT of the kidney. The genes are not related to the mTOR pathway. Therefore, LOT of the kidney might occur through several mechanisms and/or include several types of renal oncocytic tumors.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"21"},"PeriodicalIF":2.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11844160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143467107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction: Tumor Area Positivity (TAP) score of programmed death-ligand 1 (PD-L1): a novel visual estimation method for combined tumor cell and immune cell scoring.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-18 DOI: 10.1186/s13000-025-01605-6
Chunyan Liu, Fang Fang, Ying Kong, Ehab A ElGabry
{"title":"Correction: Tumor Area Positivity (TAP) score of programmed death-ligand 1 (PD-L1): a novel visual estimation method for combined tumor cell and immune cell scoring.","authors":"Chunyan Liu, Fang Fang, Ying Kong, Ehab A ElGabry","doi":"10.1186/s13000-025-01605-6","DOIUrl":"10.1186/s13000-025-01605-6","url":null,"abstract":"","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"20"},"PeriodicalIF":2.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834634/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Description of two cases of follicular dendritic cell sarcoma, including next-generation sequencing analysis.
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-15 DOI: 10.1186/s13000-025-01614-5
Yuchen Jing, Hua Ye, Shuai Luo, Jinjing Wang
{"title":"Description of two cases of follicular dendritic cell sarcoma, including next-generation sequencing analysis.","authors":"Yuchen Jing, Hua Ye, Shuai Luo, Jinjing Wang","doi":"10.1186/s13000-025-01614-5","DOIUrl":"10.1186/s13000-025-01614-5","url":null,"abstract":"<p><p>Follicular dendritic cell sarcoma (FDCS), an infrequent malignancy, poses diagnostic challenges due to its nonspecific clinical presentations and propensity for recurrence and metastasis, particularly when assessed through imaging modalities. Accurate diagnosis relies heavily on pathological morphology and immunohistochemical analysis. This study examines two FDCS cases from the Affiliated Hospital of Zunyi Medical University. Next-generation sequencing (NGS) identified three gene rearrangements-HFM1::BIRC3, ELF4::AIFM1, and DIP2B::WIF1 -in one case, while no genetic alterations were detected in the other. The report explores clinicopathological characteristics, molecular genetics, differential diagnosis, therapeutic approaches, and prognosis to enhance diagnostic and pathological understanding of FDCS in medical practice.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"19"},"PeriodicalIF":2.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11829389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信