Diagnostic Pathology最新文献

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Dedifferentiated liposarcoma with extensive cystic change causing significant diagnostic challenges: report of two cases and review of the literature. 伴有广泛囊性改变的去分化脂肪肉瘤引起显著的诊断挑战:两例报告及文献复习。
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
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. 全外显子组测序鉴定了低级别肾癌细胞瘤中叉头盒I1 (FOXI1)、角蛋白6c (KRT6C)和间隙连接蛋白δ 2 (GJD2)的突变:1例报告。
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
Annotation-free genetic mutation estimation of thyroid cancer using cytological slides from multi-centers. 使用多中心细胞学切片进行甲状腺癌无注释基因突变估计。
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
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. 校正:程序性死亡配体1 (PD-L1)肿瘤区域阳性(TAP)评分:一种新的肿瘤细胞和免疫细胞联合评分的视觉估计方法。
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. 描述两例滤泡树突状细胞肉瘤,包括下一代测序分析。
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
Detection of the 30-bp deletion and protein expression of Epstein-Barr virus latent membrane protein 1 in extranodal NK/T cell lymphoma and its clinicopathological significance. 淋巴结外NK/T细胞淋巴瘤Epstein-Barr病毒潜伏膜蛋白1 30bp缺失和蛋白表达的检测及其临床病理意义
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-13 DOI: 10.1186/s13000-025-01607-4
Xingmei Lu, Qingsong Han, Peng Li, Kate Huang, Xiuhuan Ji, Suidan Chen, Rixu Lin, Xiaoyu Wang
{"title":"Detection of the 30-bp deletion and protein expression of Epstein-Barr virus latent membrane protein 1 in extranodal NK/T cell lymphoma and its clinicopathological significance.","authors":"Xingmei Lu, Qingsong Han, Peng Li, Kate Huang, Xiuhuan Ji, Suidan Chen, Rixu Lin, Xiaoyu Wang","doi":"10.1186/s13000-025-01607-4","DOIUrl":"10.1186/s13000-025-01607-4","url":null,"abstract":"<p><strong>Background: </strong>Extranodal natural killer/T-cell lymphoma (ENKTCL) is strongly associated with Epstein-Barr virus (EBV) infection. A 30-base-pair deletion in latent membrane protein 1 (del-LMP1) represents the most common variant in the EBV genome, but its clinicopathological significance in ENKTCL remains poorly elucidated. Some scholars suggested that the LMP1 protein product carrying the deletion gene reduced immunogenicity, allowed it to escape immune surveillance in immunocompetent hosts and confer a survival advantage. Therefore, simultaneous assessment of del-LMP1 and LMP1 protein expression may provide deeper insights into the potential role of LMP1 in ENKTCL tumorigenesis and progression. This study aimed to investigate the impact of del-LMP1 and LMP1 protein expression on the clinicopathological manifestations and prognosis of ENKTCL patients in Wenzhou.</p><p><strong>Methods: </strong>The clinical and histological characteristics of 42 ENKTCL cases were retrospectively evaluated. Del-LMP1 was detected using a nested polymerase chain reaction and Sanger sequencing, while LMP1 protein expression was assessed via immunohistochemistry. Overall survival (OS) was analyzed.</p><p><strong>Results: </strong>The LMP1 gene was identified in 37/42 ENKTCL cases, including 2 wild-type (wt-LMP1), 35 del-LMP1 cases. LMP1 protein expression was positive in 21/42 cases. In the control group, the LMP1 gene was detected in 6/10 cases, all of which were del-LMP1, and the LMP1 protein was positive in 4/10 cases. Fisher's exact test revealed no significant differences between the two groups in the LMP1 gene, del-LMP1, or LMP1 protein expression. Additionally, there was no significant correlation between del-LMP1 and LMP1 protein expression and clinical characteristics such as age, gender, or vascular invasion. However, LMP1 protein expression was significantly higher in necrotic tissues (p = 0.030) and younger patients with del-LMP1 (p = 0.004). Survival analysis showed no significant difference in OS between wt-LMP1 and del-LMP1 patients (p = 0.331) or between LMP1-positive and -negative cases (p = 0.592).</p><p><strong>Conclusion: </strong>In this retrospective cohort, we demonstrated that del-LMP1 might be the predominant variant rather than a phenotype-associated polymorphism in ENKTCL from a molecular epidemiological perspective. Moreover, LMP1 protein expression was associated with necrotic tissue and younger patients with del-LMP1, possibly due to the enhanced pathogenic effect of the mutated LMP1 isolate protein.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"18"},"PeriodicalIF":2.4,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11823043/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413779","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 update on applications of digital pathology: primary diagnosis; telepathology, education and research. 数字病理学应用的最新进展:初步诊断精神病理学,教育和研究。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-12 DOI: 10.1186/s13000-025-01610-9
Shamail Zia, Isil Z Yildiz-Aktas, Fazail Zia, Anil V Parwani
{"title":"An update on applications of digital pathology: primary diagnosis; telepathology, education and research.","authors":"Shamail Zia, Isil Z Yildiz-Aktas, Fazail Zia, Anil V Parwani","doi":"10.1186/s13000-025-01610-9","DOIUrl":"10.1186/s13000-025-01610-9","url":null,"abstract":"<p><p>Digital Pathology or whole slide imaging (WSI) is a diagnostic evaluation technique that produces digital images of high quality from tissue fragments. These images are formed on glass slides and evaluated by pathologist with the aid of microscope. As the concept of digital pathology is introduced, these high quality images are digitized and produced on-screen whole slide images in the form of digital files. This has paved the way for pathologists to collaborate with other pathology professionals in case of any additional recommendations and also provides remote working opportunities. The application of digital pathology in clinical practice is glazed with several advantages and adopted by pathologists and researchers for clinical, educational and research purposes. Moreover, digital pathology system integration requires an intensive effort from multiple stakeholders. All pathology departments have different needs, case usage, and blueprints, even though the framework elements and variables for effective clinical integration can be applied to any institution aiming for digital transformation. This article reviews the background and developmental phases of digital pathology and its application in clinical services, educational and research activities.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"17"},"PeriodicalIF":2.4,"publicationDate":"2025-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11817092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143406382","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
Clinicopathological diagnosis of morphea-like carcinoma en cuirasse in the neck: a rare presentation of lung cancer. 颈部硬膜样癌的临床病理诊断:一种罕见的肺癌表现。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-11 DOI: 10.1186/s13000-025-01611-8
Yue Lin, Shulan Zhou, Wei He
{"title":"Clinicopathological diagnosis of morphea-like carcinoma en cuirasse in the neck: a rare presentation of lung cancer.","authors":"Yue Lin, Shulan Zhou, Wei He","doi":"10.1186/s13000-025-01611-8","DOIUrl":"10.1186/s13000-025-01611-8","url":null,"abstract":"<p><strong>Background: </strong>Carcinoma en cuirasse is mostly reported in breast cancer. It rarely originates from other visceral tumors such as lung cancer. In this report, we highlight the importance of skin biopsy not to make a misdiagnosis or missed diagnosis.</p><p><strong>Case presentation: </strong>We report a 51-year-old male, diagnosed with lung adenocarcinoma 2 years ago, presenting as swelling and hardening of the face and neck. The patient was diagnosed with carcinoma en cuirasse from lung cancer and was transferred to the oncology department for further management. Unfortunately, the patient gave up treatment after 3 months and died after 1 year of follow-up.</p><p><strong>Conclusion: </strong>In patients with tumors that present as swelling and hardening of the skin, the possibility of skin metastases should be considered, and the necessity of early skin biopsy should be taken into account.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"16"},"PeriodicalIF":2.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11817298/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143398072","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
The impact of C216T and hot spot mutations of the TERT promoter on the clinicopathologic characteristics and S100A10 expression in papillary thyroid carcinoma: a comparative study. TERT启动子C216T和热点突变对甲状腺乳头状癌临床病理特征及S100A10表达影响的比较研究
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-11 DOI: 10.1186/s13000-025-01613-6
Ping Li, Chuqiang Huang, Xiaoling Liu, Huihui Gui, Jian Li
{"title":"The impact of C216T and hot spot mutations of the TERT promoter on the clinicopathologic characteristics and S100A10 expression in papillary thyroid carcinoma: a comparative study.","authors":"Ping Li, Chuqiang Huang, Xiaoling Liu, Huihui Gui, Jian Li","doi":"10.1186/s13000-025-01613-6","DOIUrl":"10.1186/s13000-025-01613-6","url":null,"abstract":"<p><strong>Objective: </strong>The C216T mutation in the TERT promoter (TERTp) is a rarely reported genetic alteration in papillary thyroid carcinoma (PTC). Its clinical significance remains unclear. This study aimed to compare the impact of the C216T and hot spot mutations (C228T and C250T) of TERTp on the clinicopathologic characteristics and the expression of S100A10, a member of the S100 protein family, in PTC.</p><p><strong>Methods: </strong>In this retrospective study, a cohort comprising 8 PTC cases with the C216T mutation, 12 cases with the hot spot mutations, and 120 cases with the wildtype genotype was established. The influence of TERTp mutations on the clinicopathologic profiles of PTC was assessed.</p><p><strong>Results: </strong>The C216T mutation was mutually exclusive with the hot spot mutations and its frequency (0.19%) fell between that of C228T (0.68%) and C250T (0.06%). Compared to PTC cases with the wildtype genotype, cases with C216T mutations did not exhibit significant differences in clinicopathologic characteristics and S100A10 expression levels. In contrast, the hot spot mutations were positively associated with extrathyroidal extension (p = 0.001), ATA recurrence risk (p < 0.001), AJCC staging (p < 0.001), and increased expression of S100A10 (p = 0.005). Furthermore, a significant correlation was found between S100A10 expression and extrathyroidal extension (p = 0.005), lymph node metastasis (p = 0.013), and ATA recurrence risk (p = 0.023).</p><p><strong>Conclusion: </strong>The C216T mutation did not induce the aggressiveness of PTC as the hot spot mutations did. Furthermore, the hot spot mutations were closely associated with the increased expression of S100A10. The latter may contribute to the pro-invasive effect of the hot spot mutations on PTC.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"15"},"PeriodicalIF":2.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11816782/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397989","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 NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativity. 无细胞肿瘤DNA的先进NGS分析支持原发性高级别b细胞淋巴瘤病变和中枢神经系统复发的克隆关系,尽管MRI阴性。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-02-04 DOI: 10.1186/s13000-025-01609-2
Veronika Navrkalova, Andrea Mareckova, Jakub Porc, Samuel Hricko, Viera Hrabcakova, Jarmila Kissova, Sona Kundova, Marie Jarosova, Sarka Pospisilova, Jana Kotaskova, Andrea Janikova
{"title":"Advanced NGS analysis of cell-free tumor DNA supports clonal relation to primary high-grade B-cell lymphoma lesion and CNS relapse despite MRI negativity.","authors":"Veronika Navrkalova, Andrea Mareckova, Jakub Porc, Samuel Hricko, Viera Hrabcakova, Jarmila Kissova, Sona Kundova, Marie Jarosova, Sarka Pospisilova, Jana Kotaskova, Andrea Janikova","doi":"10.1186/s13000-025-01609-2","DOIUrl":"10.1186/s13000-025-01609-2","url":null,"abstract":"<p><p>High-grade B-cell lymphomas (HGBCLs) are aggressive blood cancers with a severe disease course, especially when the central nervous system (CNS) is involved. Standard histological examination depends on tissue availability and is currently supplemented with molecular tests, as the status of MYC, BCL2, or BCL6 gene rearrangements is required for proper lymphoma classification. This case report demonstrates the relevance of cerebrospinal fluid (CSF) cell-free DNA testing by integrative next-generation sequencing (NGS) panel. The benefit of this approach resided in tumor genotyping alongside the proof of CNS progression despite MRI negativity, revealing a clonal relationship with the primary tumor lesion. In addition, our strategy allowed us to classify the tumor as DLBCL/HGBL-MYC/BCL2 entity. In clinical practice, such a minimally invasive approach provides a more sensitive tool than standard imaging and cell analyzing techniques, enabling more accurate disease monitoring and relapse prediction in particular cases.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"14"},"PeriodicalIF":2.4,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143187611","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
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