Diagnostic Pathology最新文献

{"title":"Acromioclavicular joint cyst presenting with findings concerning for a soft tissue tumor - a case report.","authors":"John F Schutz, Christopher D Hamad, Michael D Russell, Mahmuod Abdeljaber, Scott D Nelson, Fritz Eilber","doi":"10.1186/s13000-024-01581-3","DOIUrl":"10.1186/s13000-024-01581-3","url":null,"abstract":"<p><strong>Case: </strong>We present the case of a 73-year-old female with an acromioclavicular joint cyst associated with atypical, exquisite, progressive pain, and imaging findings concerning for neoplastic etiology. She underwent en bloc resection of the trapezium containing this cystic mass and distal clavicle. Surgical pathology demonstrated findings consistent with a large ganglion cyst without evidence of malignancy.</p><p><strong>Conclusion: </strong>Our case serves to emphasize the importance of stepwise evaluation and appropriate treatment of such cysts while utilizing appropriate principles of oncologic resection in cases where a neoplastic etiology is considered.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"156"},"PeriodicalIF":2.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11653830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853503","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 FH-deficient renal cell carcinoma with signet ring cells features.","authors":"Yin Lu, Chunfang Hu, Jiedong Jia, Ye Liu, Yanlin Wen, Huijuan Zhang, Xiaoliang Wang, Haitao Li, Guihua Shen, Wenting Huang","doi":"10.1186/s13000-024-01583-1","DOIUrl":"10.1186/s13000-024-01583-1","url":null,"abstract":"<p><p>Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a clinically aggressive tumor with high rates of progression and mortality. A wide range of morphological variations has been observed in FH-deficient RCC, initially described as type 2 papillary RCC or unclassified RCC. Here, we report a case of FH-deficient RCC with rare signet ring cells features. The patient was diagnosed with FH-deficient renal cell carcinoma and suspected to have hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. After 4 months, pulmonary metastasis occurred in the patient. We herein describe the first case of FH-deficient renal tumor with signet ring cells features, which expands the morphological spectrum of this tumor. More importantly, this variant can be a diagnostic pitfall, we emphasize that pathologists should consider not only the diagnosis of metastatic signet ring cell carcinoma and ALK rearrangement renal cell carcinoma but also FH-deficient renal cell carcinoma.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"159"},"PeriodicalIF":2.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11654279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853502","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":"Primary anorectal mammary-like adenocarcinoma: a potential diagnostic pitfall with conventional colorectal adenocarcinoma.","authors":"Margaret L Axelrod, Xiuli Liu, Pooja Navale","doi":"10.1186/s13000-024-01572-4","DOIUrl":"10.1186/s13000-024-01572-4","url":null,"abstract":"<p><p>Anogenital mammary-like glands (AGMLGs) are present in the anogenital region that bear striking morphologic and protein-expression similarities to mammary glands in the breast. AGMLGs can give rise to both benign and malignant lesions which mimic primary breast lesions. Herein, we report two mammary-type adenocarcinomas arising from AGMLGs, including one in the previously unreported site of the rectum. Recognition of mammary-type adenocarcinoma in the rectal and anogenital regions is crucial as clinical management options may differ compared to conventional colorectal adenocarcinomas.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"160"},"PeriodicalIF":2.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11653936/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853506","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":"Concordance between immunohistochemistry and MSI analysis for detection of MMR/MSI status in colorectal cancer patients.","authors":"Muhammad Ishaque Faizee, NorLelawati A Talib, Asmah Hanim Bt Hamdan, Nor Zamzila Bt Abdullah, Bilal Ahmad Rahimi, Ahmed Maseh Haidary, Ramin Saadaat, Ahmed Nasir Hanifi","doi":"10.1186/s13000-024-01571-5","DOIUrl":"10.1186/s13000-024-01571-5","url":null,"abstract":"<p><strong>Background: </strong>Recently, screening of colorectal cancer (CRC) patients for mismatch repair/microsatellite instability (MMR/MSI) status is widely practiced due to its potential predictive and prognostic roles and a screening tool to reveal Lynch Syndrome (LS). The purpose of the study was to evaluate concordance between immunohistochemistry (IHC) and MSI analysis methods for detection of MMR/MSI status in colorectal cancer patients in Kuantan, Pahang.</p><p><strong>Methods: </strong>Fifty selected CRC cases of deficient mismatch repair (dMMR) and proficient mismatch repair (pMMR) which were identified immunohistochemically in the previous study were subjected to MSI analysis. MSI Analysis System 1.2 (Promega) was utilized.</p><p><strong>Results: </strong>The results of MSI analysis method showed MSI-High: 26% (13/50), MSI-Low: 6% (3/50), and Microsatellite Stable: 68% (34/50). The concordance was perfect (0.896, Kappa value) between MSI analysis and IHC methods for the assessment of MMR/MSI status in CRC patients. The discordance was only 4% (2/50). MSI analysis identified all dMMR cases determined by IHC except one case. The obtained frequency of dMMR and pMMR patients was 11.4% (14/123) and 88.6% (109/123) by IHC method, respectively.</p><p><strong>Conclusion: </strong>Our findings support the universal practice of evaluating the MMR/MSI status in all newly diagnosed CRC patients. Based on the perfect concordance of two methods, the method of choice is based on the availability of expertise and equipments. IHC is highly appreciable method due to its feasibility and reproducibility.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"155"},"PeriodicalIF":2.4,"publicationDate":"2024-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750107","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":"Hyalinizing clear cell carcinoma of the lung: a case report and literature review.","authors":"Yu-Ju Su, Yun-Shao Wu, Cheng-Hung How, Min-Shu Hsieh","doi":"10.1186/s13000-024-01579-x","DOIUrl":"10.1186/s13000-024-01579-x","url":null,"abstract":"<p><strong>Background: </strong>Primary pulmonary hyalinizing clear cell carcinoma (HCCC) is an exceedingly rare tumor with unique clinicopathological features, posing major diagnostic challenges.</p><p><strong>Case presentation: </strong>We present a case of a 74-year-old woman with a lung nodule incidentally detected in the right middle lobe (RML) through ¹⁸F-fluorodeoxyglucose positron emission tomography/computed tomography (¹⁸F-FDG PET/CT) imaging. Through comprehensive evaluations by thoracic surgeons, she underwent video-assisted thoracic surgery of RML lobectomy to excise the lung nodule. Subsequent histopathological and immunohistochemical analyses confirmed the nodule as HCCC. She was discharged without any postoperative complications. No recurrence has been observed after two years of follow-up. This case underscored the importance of comprehensive imaging modalities and pathological analysis in the management of primary pulmonary HCCC.</p><p><strong>Conclusions: </strong>This report highlights the critical role of imaging techniques and pathological analysis in diagnosing primary pulmonary HCCC, with this case demonstrating the essential value of ¹⁸F-FDG PET/CT integration.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"154"},"PeriodicalIF":2.4,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603845/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738746","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 report of surgery-radiotherapy-chemotherapy cured primary diffuse large B-cell lymphoma of the central nervous system associated with HIV infection.","authors":"Qiaoqiao Zhang, Jingzhen Lai, Sufang Ai, Shulin Song, Junjun Jiang, Zhiman Xie","doi":"10.1186/s13000-024-01562-6","DOIUrl":"10.1186/s13000-024-01562-6","url":null,"abstract":"<p><strong>Background: </strong>Diffuse large B-cell lymphoma (DLBCL) is one of the most common complications in patients with Acquired Immune Deficiency Syndrome (AIDS), yet its prognosis is generally poor. The impact of surgery on DLBCL remains controversial. We present a case of DLBCL associated with HIV infection, in which the patient achieved complete remission following surgical removal, radiotherapy, and sequential dose-adjusted EPOCH (DA-EPOCH) chemotherapy. A thirty-year-old man presented with dizziness and headache on September 24, 2019. He had a history of AIDS and pulmonary tuberculosis. He was initially diagnosed with left cerebellar astrocytoma and chronic pneumonia at a local hospital. At our hospital, following magnetic resonance imaging (MRI) and surgical intervention, pathology and immunohistochemistry results indicated DLBCL in the left cerebellar hemisphere. He subsequently underwent resection of the tumor in the left cerebellar hemisphere, received radiotherapy for half a month, and completed sequential DA-EPOCH chemotherapy for seven cycles. His symptoms improved, and the prognosis was favorable, with no signs of recurrence after 4 years of follow-up.</p><p><strong>Conclusion: </strong>Surgery is applicable to isolated and superficial lesions. However, it should be combined with radiotherapy and chemotherapy to achieve better treatment.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"153"},"PeriodicalIF":2.4,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11590278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142727038","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":"FAP-α is an effective tool to evaluate stroma invasion of lung adenocarcinoma.","authors":"Siping Xiong, Huan Fan, Yimin Guo, Ruixiang Sun, Hongmei Ma, Yali Xiang, Chao Zeng","doi":"10.1186/s13000-024-01580-4","DOIUrl":"10.1186/s13000-024-01580-4","url":null,"abstract":"<p><p>The main difficulty in the diagnosis of atypical in situ adenocarcinoma lies in the distinction between true and false stromal invasion. Moreover, how to identify local alveolar wall collapse in situ lung adenocarcinoma and how to identify whether the trapped adenoid structure around scar is an invasion component have become the key points for accurate diagnosis of lung adenocarcinoma. In the present study, we detected 40 cases of lung adenocarcinoma in situ and 40 cases of invasive adenocarcinoma by using immunohistochemical techniques. We found FAP-α had not immunreactivity in the stroma of adenocarcinoma in situ. However, it stained in the stroma of invasive areas in lung adenocarcinoma. FAP-α staining pattern could represent hyperplastic myofibroblast and demonstrated the true invasion of stroma. This study provides strong evidence that FAP-α is an effective tool to evaluate the presence or absence of stroma invasion of lung adenocarcinoma. Our findings will contribute to the accurate diagnosis of lung invasive adenocarcinoma.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"152"},"PeriodicalIF":2.4,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715660","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":"Atypical cellular neurothekeoma: a case report with a novel NF1 mutation.","authors":"Valli de la Guardia, Edgardo Castro-Pérez, Ana I Porcell, Sara González de Tena-Dávila, Marina Pacheco","doi":"10.1186/s13000-024-01578-y","DOIUrl":"10.1186/s13000-024-01578-y","url":null,"abstract":"<p><p>Atypical cellular neurothekeoma is a rare benign soft-tissue tumour that usually arises in the head and neck region, shoulder girdles, and proximal extremities, predominantly in young women. This dermal neoplasm is under-reported in the literature and is not uncommonly misdiagnosed as a malignant tumour due to its worrisome histologic characteristics. Currently, the diagnosis of cellular neurothekeoma relies on a panel of non-specific immunohistochemical markers and its etiopathogenesis is unknown.Herein, we present the case of an atypical cellular neurothekeoma in the arm of a 49-year-old woman, describing its microscopic features and immunohistochemical profile. Additionally, we present a novel heterozygous predicted inactivating NF1 mutation, not previously reported, which was identified using high-throughput molecular techniques. Such finding might provide insights into the pathogenesis of neurothekeoma, potentially contributing to future refinements in diagnosis, which would enable more precise identification of this neoplasm.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"151"},"PeriodicalIF":2.4,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11583657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692480","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":"Clinical significance and expression of SLC35F6 in bladder urothelial carcinoma.","authors":"Jinling Zhang, Siqi Liu, Meng Wu, Wenyu Shi, Yihong Cai","doi":"10.1186/s13000-024-01582-2","DOIUrl":"10.1186/s13000-024-01582-2","url":null,"abstract":"<p><strong>Background: </strong>SLC35F6 negatively regulates outer mitochondrial membrane permeability and positively regulates apoptotic signaling pathways and cell population proliferation. The biological function of SLC35F6 in bladder cancer (BC) remains inadequately established. This study evaluates the expression and clinical significance of SLC35F6 in BC, assesses its prognostic value and explores its relationship with key immune-related molecules in the tumor microenvironment.</p><p><strong>Methods: </strong>Combining bioinformatics tools and immunohistochemistry (IHC) analysis, the expression of SLC35F6 was analyzed through IHC in the tissues of 145 BC patients treated at the Affiliated Hospital of Nantong University from 2004 to 2009. The relationship between SLC35F6 expression levels and significant clinicopathological factors was examined using the chi-square test. Prognostic values were analyzed using the COX regression model and the Kaplan-Meier survival curve. Analysis of the receiver operating characteristic curve was conducted to assess the predictive performance of SLC35F6 in BC patients.</p><p><strong>Results: </strong>The expression levels of both SLC35F6 mRNA and protein were elevated in BC tissue relative to benign tissue. Kaplan-Meier analysis indicated that patients exhibiting elevated SLC35F6 protein expression had a worse prognosis. Multivariate Cox regression analysis confirmed that SLC35F6, TNM stage and grade are independent risk factors for bladder cancer. SLC35F6, when analyzed alongside clinical pathological factors, enhances the accuracy of survival predictions for Bladder Urothelial Carcinoma (BLCA) patients.</p><p><strong>Conclusion: </strong>SLC35F6 is upregulated in BC patients compared to normal individuals and is linked to a worse prognosis. SLC35F6 analyzed alongside clinical pathological factors can enhance the accuracy of survival predictions for BLCA patients, suggesting its potential value as a prognostic and predictive biomarker.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"150"},"PeriodicalIF":2.4,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11583552/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142692610","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":"Clinical significance of Cyclin D1 by complete quantification detection in mantle cell lymphoma: positive indicator in prognosis.","authors":"Yan Yang, Liling Song, Ying Yin, Yuan Gao, Yunjun Wang, Shishou Wu, Jun Wang, Yu Pan, Xiaolong Sui, Lei Jiang, Yunyun Zhang, Guohua Yu","doi":"10.1186/s13000-024-01577-z","DOIUrl":"10.1186/s13000-024-01577-z","url":null,"abstract":"<p><strong>Objectives: </strong>The positive expression of Cyclin D1 in immunohistochemical (IHC) staining serves as the cornerstone for diagnosing mantle cell lymphoma (MCL). However, existing literature does not conclusively establish whether the expression ratio and staining intensity significantly influence diagnostic outcomes or patient prognosis. In this retrospective study, the correlation between comprehensive Cyclin D1 quantification and the prognosis of MCL patients was studied.</p><p><strong>Methods: </strong>The Cyclin D1 protein level was assessed in 120 formalin-fixed paraffin-embedded samples from MCL patients using the quantitative dot blot (QDB) analysis technique. R language software was employed for statistical analysis to determine the optimal threshold with statistical significance. Additionally, Kaplan-Meier method was utilized to evaluate the relationship between the absolute level of Cyclin D1 protein and overall survival (OS) of patients. Furthermore, the Chi-square test was applied to analyze the causes of single and multiple fractures, with a significance level of p < 0.05. Finally, the Log-rank test was used to compare two survival curves, where a significance level of p < 0.05 was considered statistically significant.</p><p><strong>Results: </strong>At the optimized cutoff of 0.46 nmol/g, univariate analysis revealed a positive correlation between Cyclin D1 protein level and patient survival (OS). Specifically, in the subgroup with complete quantification of Cyclin D1 higher than the cutoff, the 5-year OS was 18%, whereas in the subgroup with complete quantification of Cyclin D1 lower than the cutoff, the 5-year OS was 4.8% (Log-rank test, P = 0.017). This indicates that patients with Cyclin D1 levels above the cutoff had significantly better overall survival compared to those below the cutoff. Additionally, in the Pearson distribution test, Ki-67 emerged as an independent prognostic factor for the complete quantification of Cyclin D1. Notably, Cyclin D1 complete quantification results remained unaffected by factors such as gender, age, LDH (Lactate Dehydrogenase) level, Ann Arbor stage(AAS), Ki-67, IPI(International prognostic index), MIPI(Mantle International prognostic index), and MIPI-c (MIPI Combined with Ki-67 Proliferation Index Chi-square test, p > 0.05).</p><p><strong>Conclusions: </strong>Comprehensive Cyclin D1 quantification, especially above a threshold, significantly correlates with better overall survival in MCL. This highlights its prognostic importance in MCL management. Full quantification of CyclinD1 aids MCL prognosis, while QDB technology for biomarker quantification supports precise clinical prognostic stratification.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"149"},"PeriodicalIF":2.4,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11580504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142686409","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}