Diagnostic Pathology最新文献

{"title":"Interlaboratory variability of HER2 fluorescence in situ hybridization testing in breast cancer: results of a multicenter proficiency-testing ring study in China.","authors":"Rongxue Peng, Kuo Zhang, Guigao Lin, Jinming Li","doi":"10.1186/s13000-024-01588-w","DOIUrl":"10.1186/s13000-024-01588-w","url":null,"abstract":"<p><strong>Background: </strong>Accurate detection of human epidermal growth factor receptor 2 (HER2) gene amplification via fluorescence in situ hybridization (FISH) is necessary to determine HER2 status. Although many attempts have been made to increase the consistency of the results, the actual situation still needs to be determined. To investigate the latest interlaboratory variability of HER2 FISH testing for breast cancer, a multicenter proficiency-testing ring study was conducted in China.</p><p><strong>Methods: </strong>A total of ten samples, each exhibiting distinct HER2 signal patterns and genetic heterogeneity, were distributed to 169 laboratories for HER2 FISH analysis. Data comprising both the results of the tests and feedback from questionnaires were compiled for comprehensive evaluation.</p><p><strong>Results: </strong>The overall agreement among the participating laboratories was substantial to almost perfect, with a Fleiss' kappa value of 0.765-0.911. However, it is important to note that cases with characteristics of HER2 signals near the critical cutoff range or with genetic heterogeneity showed lower congruence, poorer reproducibility, and higher variability (Fleiss' kappa: 0.582). Our questionnaire showed that 52.2% (86/168) of the participants did not perform validation after their operation procedures or interpretation criteria were updated, and 75.6% (121/160) of the participants did not establish standard interpretation procedures. Since these laboratories showed worse performance (P < 0.05), the lack of validation and interpretation procedures was speculated to be the possible underlying cause.</p><p><strong>Conclusions: </strong>This study presents the latest landscape of interlaboratory variability and accuracy of HER2 FISH testing in China and highlights potential causes for the variability. Despite many years of effort, the standardization of HER2 status determination still has a long way to go.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"161"},"PeriodicalIF":2.4,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11661035/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871730","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":"ALK + anaplastic large cell lymphoma involving the bladder: case report and review of the literature.","authors":"Ying Zhao, Wenqiang Qiu, Xiangtao Weng, Chiming Gu, Siyi Li","doi":"10.1186/s13000-024-01585-z","DOIUrl":"10.1186/s13000-024-01585-z","url":null,"abstract":"<p><p>We reported a case of anaplastic lymphoma kinase (ALK)-positive anaplastic large cell lymphoma (ALK + ALCL) involving the bladder. The patient was a 27-year-old female, whose main clinical symptoms included fever, painless lymphadenopathy, and hematuria. Imaging studies suggested a bladder mass. The bladder mass was maximally resected through transurethral bladder tumor resection. The pathology report indicated a malignant tumor of the bladder. Based on immunohistochemical and gene rearrangement results, the diagnosis was confirmed as ALK + ALCL. After undergoing five cycles of treatment with the BV + CHP chemotherapy regimen, the patient's condition is currently stable, and no tumor recurrence was observed upon re-examination. ALK + ALCL involving the bladder is very rare, and early diagnosis is challenging. By reviewing the diagnostic and treatment process of this patient, and in conjunction with a review of modern literature on the disease's incidence characteristics, treatment protocols, and prognosis, this aims to provide a reference for clinicians in diagnosing and treating this condition, thereby reducing delays.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"157"},"PeriodicalIF":2.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11654092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853504","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":"In-depth exploration of cutaneous anthrax: clinical and pathological manifestations of a case report.","authors":"Yongjun Du, Jizhou Ma, Guozhen Liu, Zhi Chai, Hang Han, Tairen Chen, Lan Yang, Li Jing, Fangjing Xu, Yucheng Fan","doi":"10.1186/s13000-024-01587-x","DOIUrl":"10.1186/s13000-024-01587-x","url":null,"abstract":"<p><p>Anthrax is an acute infectious disease caused by Bacillus anthracis, which can infect various animals and humans. Cutaneous anthrax primarily presents as infiltrative, edematous erythema, surface vesicles, hemorrhagic vesicles, and necrotic eschar; some patients may also experience systemic symptoms such as fever and leukocytosis. With economic development and improvements in public health conditions, naturally occurring cases of cutaneous anthrax have significantly decreased, leading to limited reports on the pathological manifestations of this disease. This article reports a case of a patient with cutaneous anthrax diagnosed and treated in our hospital, aiming to explore the laboratory examinations, imaging, pathological features, and clinical treatment methods of the disease. The goal is to enhance understanding of anthrax and increase vigilance in clinical practice to avoid misdiagnosis and missed diagnosis. The described diagnostic and therapeutic processes are accurate and reliable, with no modifications or exaggerations. It is important to note that the patient's treatment may have been influenced by local social, economic, health, and epidemiological conditions, which introduces certain limitations. We hope that our colleagues will approach this study with an objective mindset for learning and reference.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"19 1","pages":"158"},"PeriodicalIF":2.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11654154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142853505","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":"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}