Hannah Crane, Robin J Young, Malee S Fernando, Jon Griffin
{"title":"Sinonasal alveolar rhabdomyosarcoma with <i>PAX3::NCOA1</i> fusion expressing SOX10 and with nodal metastases: a double diagnostic pitfall.","authors":"Hannah Crane, Robin J Young, Malee S Fernando, Jon Griffin","doi":"10.1136/jcp-2024-209640","DOIUrl":"https://doi.org/10.1136/jcp-2024-209640","url":null,"abstract":"","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Richard R Pacheco, Goo Lee, Zhaohai Yang, Jingmei Lin, Deepa T Patil, Mariam Youssef, Qingzhao Zhang, Ahmad Mahmoud Alkashash, Jingwei Li, Hwajeong Lee
Aims: Current guidelines offer limited strategies for managing recurrent/persistent oesophageal adenocarcinoma (EAC). Salvage endoscopic mucosal/submucosal resection (ER) shows promise in oesophageal squamous cell carcinoma, however its success in EAC is limited. We aimed to elucidate histological characteristics influencing salvage ER success in patients with low-stage, pretreated EAC.
Methods: We retrospectively reviewed 272 EAC tumours postoesophagectomy from five US centres and collected clinicopathological data including discontinuous growth (DG), defined as separate tumour foci ≥2 mm from the main tumour. We selected 101 patients with low-stage disease and divided them into treatment-naïve (n=70) and neoadjuvant therapy (n=31) groups. We compared the two groups and differences in clinical, histological and outcome characteristics were identified.
Results: In the entire cohort (n=272), DGs were identified in 22% of cases. Multivariate analysis revealed DGs as an independent prognostic factor for recurrence and positive oesophagectomy margins. Lymphovascular invasion (LVI) and background intestinal metaplasia predicted DG presence and absence, respectively. Compared with the treatment-naïve low T-stage subgroup, the pretreated subgroup exhibited higher incidence of poorly differentiated carcinoma (16% vs 46%, p=0.007), larger tumours (14 vs 30 mm, p<0.001), higher tumour, node, metastases stage (7% vs 30%, p=0.004), more nodal disease (7% vs 36%, p<0.001) and frequent DGs (1% vs 13%, p=0.030).
Conclusions: In treated low T-stage EACs, DGs may contribute to suboptimal outcomes following salvage ER. Presence of LVI (as a surrogate for DGs) and poor differentiation in the absence of intestinal metaplasia in biopsy samples may serve as histological poor prognosticators in treated patients with EAC being considered for salvage ER.
目的:目前的指南为治疗复发性/顽固性食管腺癌(EAC)提供的策略有限。抢救性内镜粘膜/粘膜下切除术(ER)在食管鳞状细胞癌中的应用前景良好,但在食管腺癌中的成功率有限。我们旨在阐明影响低分期、预处理EAC患者挽救性内镜黏膜/黏膜下切除术成功率的组织学特征:我们回顾性研究了来自美国五个中心的 272 例食管切除术后 EAC 肿瘤,并收集了包括不连续生长(DG)在内的临床病理数据,不连续生长被定义为距主肿瘤≥2 mm 的独立肿瘤灶。我们选择了 101 例低期患者,将其分为未经治疗组(70 例)和新辅助治疗组(31 例)。我们对两组患者进行了比较,并确定了临床、组织学和结果特征的差异:在整个队列(n=272)中,22%的病例发现了DG。多变量分析显示,DG是复发和食管切除边缘阳性的独立预后因素。淋巴管侵犯(LVI)和背景肠化生分别预测了DG的存在与否。与未经治疗的低T期亚组相比,预处理亚组的分化不良癌发生率更高(16% vs 46%,P=0.007),肿瘤更大(14 mm vs 30 mm,P=0.007):在接受治疗的低T期EAC中,DGs可能会导致抢救性ER后的疗效不理想。活检样本中存在LVI(作为DGs的替代物)和分化不良(无肠化生)可能是考虑接受挽救性ER治疗的EAC患者预后不佳的组织学指标。
{"title":"\"Find Your Y\": histological differences in early stage (pT) and post-treatment (ypT) oesophageal adenocarcinoma with implications for salvage endoscopic resection.","authors":"Richard R Pacheco, Goo Lee, Zhaohai Yang, Jingmei Lin, Deepa T Patil, Mariam Youssef, Qingzhao Zhang, Ahmad Mahmoud Alkashash, Jingwei Li, Hwajeong Lee","doi":"10.1136/jcp-2024-209688","DOIUrl":"https://doi.org/10.1136/jcp-2024-209688","url":null,"abstract":"<p><strong>Aims: </strong>Current guidelines offer limited strategies for managing recurrent/persistent oesophageal adenocarcinoma (EAC). Salvage endoscopic mucosal/submucosal resection (ER) shows promise in oesophageal squamous cell carcinoma, however its success in EAC is limited. We aimed to elucidate histological characteristics influencing salvage ER success in patients with low-stage, pretreated EAC.</p><p><strong>Methods: </strong>We retrospectively reviewed 272 EAC tumours postoesophagectomy from five US centres and collected clinicopathological data including discontinuous growth (DG), defined as separate tumour foci ≥2 mm from the main tumour. We selected 101 patients with low-stage disease and divided them into treatment-naïve (n=70) and neoadjuvant therapy (n=31) groups. We compared the two groups and differences in clinical, histological and outcome characteristics were identified.</p><p><strong>Results: </strong>In the entire cohort (n=272), DGs were identified in 22% of cases. Multivariate analysis revealed DGs as an independent prognostic factor for recurrence and positive oesophagectomy margins. Lymphovascular invasion (LVI) and background intestinal metaplasia predicted DG presence and absence, respectively. Compared with the treatment-naïve low T-stage subgroup, the pretreated subgroup exhibited higher incidence of poorly differentiated carcinoma (16% vs 46%, p=0.007), larger tumours (14 vs 30 mm, p<0.001), higher tumour, node, metastases stage (7% vs 30%, p=0.004), more nodal disease (7% vs 36%, p<0.001) and frequent DGs (1% vs 13%, p=0.030).</p><p><strong>Conclusions: </strong>In treated low T-stage EACs, DGs may contribute to suboptimal outcomes following salvage ER. Presence of LVI (as a surrogate for DGs) and poor differentiation in the absence of intestinal metaplasia in biopsy samples may serve as histological poor prognosticators in treated patients with EAC being considered for salvage ER.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aims: In intraoperative frozen tissue section laboratories (FS laboratories) conventional practice for mounting coverslips on tissue slides involves the use of xylene-based mounting agents, such as Pertex. However, toxic vapours pose a risk to biomedical laboratory scientists (BLS) and pathologists who handle the wet slides to provide fast and urgent diagnostic results to surgeons during operations. Our study aims to evaluate non-toxic mounting agents to substitute Pertex, preferably with a fast curing time suitable for the demands of the new digital era in pathology.
Methods: Five non-toxic mounting agents were purchased and tested through six different protocols and compared to xylene-based Pertex as our gold standard. With light microscopy, tissue slides were quality assessed by BLS. Mounting agents, which were evaluated comparable to Pertex, were also evaluated by a pathologist, hence scanned digitally and re-evaluated.
Results: The protocols for Eukitt UV, Eukitt UV R-1 and Eukitt UV R-2 had significantly more artefacts (bubbles) compared to gold standard Pertex (p<0.0001, p=0.004 and p<0.0001, respectively) and assessed inadequate as replacements. Neo-Mount and Tissue Mount were assessed applicable regarding quality, but curing times were long. Tek Select UV showed promising results in both quality and fast curing time (protocol was <2 min).
Conclusions: Toxic mounting agents need replacement to health guard professionals, and also digital pathology is revolutionising laboratories. A digitalized FS laboratory requires fast dry/cured slides for digital scanning. Therefore, a substitute for the FS laboratory should have the qualities of being non-toxic to handle and having a fast curing time, and a UV-based mounting agent may solve both requirements.
{"title":"Mounting agents with low toxicity and with fast curing time for digital pathology in the intraoperative frozen section laboratory.","authors":"Mette Wessel Frandsen, Lone Bojesen, Sys Johnsen, Lene Buhl Riis, Julie Smith","doi":"10.1136/jcp-2024-209417","DOIUrl":"https://doi.org/10.1136/jcp-2024-209417","url":null,"abstract":"<p><strong>Aims: </strong>In intraoperative frozen tissue section laboratories (FS laboratories) conventional practice for mounting coverslips on tissue slides involves the use of xylene-based mounting agents, such as Pertex. However, toxic vapours pose a risk to biomedical laboratory scientists (BLS) and pathologists who handle the wet slides to provide fast and urgent diagnostic results to surgeons during operations. Our study aims to evaluate non-toxic mounting agents to substitute Pertex, preferably with a fast curing time suitable for the demands of the new digital era in pathology.</p><p><strong>Methods: </strong>Five non-toxic mounting agents were purchased and tested through six different protocols and compared to xylene-based Pertex as our gold standard. With light microscopy, tissue slides were quality assessed by BLS. Mounting agents, which were evaluated comparable to Pertex, were also evaluated by a pathologist, hence scanned digitally and re-evaluated.</p><p><strong>Results: </strong>The protocols for <i>Eukitt UV</i>, <i>Eukitt UV R-1</i> and <i>Eukitt UV R-2</i> had significantly more artefacts (bubbles) compared to gold standard Pertex (p<0.0001, p=0.004 and p<0.0001, respectively) and assessed inadequate as replacements. <i>Neo-Mount</i> and <i>Tissue Mount</i> were assessed applicable regarding quality, but curing times were long. <i>Tek Select UV</i> showed promising results in both quality and fast curing time (protocol was <2 min).</p><p><strong>Conclusions: </strong>Toxic mounting agents need replacement to health guard professionals, and also digital pathology is revolutionising laboratories. A digitalized FS laboratory requires fast dry/cured slides for digital scanning. Therefore, a substitute for the FS laboratory should have the qualities of being non-toxic to handle and having a fast curing time, and a UV-based mounting agent may solve both requirements.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuezhu Wang, Margaret R Smith, Caroline B Dixon, Ralph D'Agostino, Yin Liu, Jimmy Ruiz, Michael D Chan, Jing Su, Kathryn F Mileham, Thomas Lycan, Mary E Green, Omer A Hassan, Yuming Jiang, M Khalid Khan Niazi, Wencheng Li, Fei Xing
Aims: The International Association for the Study of Lung Cancer (IASLC) has proposed a new histological grading system for invasive lung adenocarcinoma (LUAD). However, the efficacy of this grading system in predicting distant metastases in patients with LUAD remains unexplored. This study aims to assess the potential of the IASLC grading system in predicting the occurrence of brain and bone metastases in patients with resectable LUAD, thereby identifying individuals at high risk of post-surgery distant metastasis.
Methods: We retrospectively analysed clinical data and pathological reports of 174 patients with early-stage LUAD who underwent surgical resection between 2008 and 2015 at our cancer center. Patients were monitored for 5 years, and their bone and brain metastasis-free survival rates were determined.
Results: 28 out of 174 patients developed distant metastases in 5 years with a median overall survival of 60 months for metastasis-free patients and 38.3 months for patients with distant metastasis. Tumour grading of all samples was evaluated by both IASLC grading and predominant pattern-based grading systems. Receiver operating characteristic (ROC) curves were used to evaluate the predictive capabilities of the IASLC grading system and tumour stage for distant metastasis. Compared with the predominant pattern-based grading system, the IASLC grading system showed a better correlation with the incidence of distant metastasis and lymphovascular invasion. ROC analyses revealed that the IASLC grading system outperformed tumour stage in predicting distant metastasis.
Conclusions: Our study indicates that the IASLC grading system is capable of predicting the incidence of distant metastasis among patients with early-stage invasive LUAD.
{"title":"IASLC grading system predicts distant metastases for resected lung adenocarcinoma.","authors":"Yuezhu Wang, Margaret R Smith, Caroline B Dixon, Ralph D'Agostino, Yin Liu, Jimmy Ruiz, Michael D Chan, Jing Su, Kathryn F Mileham, Thomas Lycan, Mary E Green, Omer A Hassan, Yuming Jiang, M Khalid Khan Niazi, Wencheng Li, Fei Xing","doi":"10.1136/jcp-2024-209649","DOIUrl":"https://doi.org/10.1136/jcp-2024-209649","url":null,"abstract":"<p><strong>Aims: </strong>The International Association for the Study of Lung Cancer (IASLC) has proposed a new histological grading system for invasive lung adenocarcinoma (LUAD). However, the efficacy of this grading system in predicting distant metastases in patients with LUAD remains unexplored. This study aims to assess the potential of the IASLC grading system in predicting the occurrence of brain and bone metastases in patients with resectable LUAD, thereby identifying individuals at high risk of post-surgery distant metastasis.</p><p><strong>Methods: </strong>We retrospectively analysed clinical data and pathological reports of 174 patients with early-stage LUAD who underwent surgical resection between 2008 and 2015 at our cancer center. Patients were monitored for 5 years, and their bone and brain metastasis-free survival rates were determined.</p><p><strong>Results: </strong>28 out of 174 patients developed distant metastases in 5 years with a median overall survival of 60 months for metastasis-free patients and 38.3 months for patients with distant metastasis. Tumour grading of all samples was evaluated by both IASLC grading and predominant pattern-based grading systems. Receiver operating characteristic (ROC) curves were used to evaluate the predictive capabilities of the IASLC grading system and tumour stage for distant metastasis. Compared with the predominant pattern-based grading system, the IASLC grading system showed a better correlation with the incidence of distant metastasis and lymphovascular invasion. ROC analyses revealed that the IASLC grading system outperformed tumour stage in predicting distant metastasis.</p><p><strong>Conclusions: </strong>Our study indicates that the IASLC grading system is capable of predicting the incidence of distant metastasis among patients with early-stage invasive LUAD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Neha Bakshi, Aditi Aggarwal, Shashi Dhawan, A K Grover, Lalit Duggal, Sonia Badwal, Seema Rao
Aims: Diagnosis of IgG4-related ophthalmic disease (IgG4-ROD) rests on the correlation of clinical features, serological testing and histopathology, using internationally accepted diagnostic criteria for objective interpretation; however, several mimickers of IgG4-RD overlap in clinical presentation and histopathology. We assess histopathological features in a series of presumptive IgG4-ROD cases, with emphasis on histopathological mimics and comparison of three IgG4-ROD diagnostic/classification criteria (organ-specific (OS), revised comprehensive diagnostic (RCD) and American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR) criteria).
Methods: The histopathology database was screened for cases with clinical/histopathological suspicion of IgG4-ROD. Slides were reviewed, OS, RCD and ACR/EULAR criteria were applied, and the final clinicopathological diagnosis was recorded.
Results: 37 patients (24 females, 13 males; 19-73 years) were diagnosed as either IgG4-ROD (n=18) or non-IgG4-related disease (n=19). Non-IgG4-related disease group showed elevated serum IgG4 (55.5%), fibrosis (100%), dense lymphoplasmacytic inflammation (92.8%), with an increase in tissue IgG4+plasma cells (57.1%) and elevated IgG4:IgG+plasma cell ratio (14.3%). ACR/EULAR missed 50% (9/18, sensitivity-52.8%) of true IgG4-ROD cases, while OS and RCD criteria missed 11.1% (2/18, sensitivity-88.9%) of IgG-ROD cases. ACR/EULAR criteria mislabelled 7.14% (1/14, specificity-90.9%) while OS and RCD criteria wrongly categorised 71.4% (10/14, specificity-47.4%) and 50% (7/14, specificity-63.2%) specific non-IgG4-ROD cases as IgG4-ROD. Storiform fibrosis, obliterative phlebitis, increased IgG4:IgG+plasma cell ratio and elevated serum IgG were statistically significant in distinguishing IgG4-ROD from its mimics.
Conclusion: ACR/EULAR criteria showed high specificity but were cumbersome and sensitivity was low, while RCD and OS criteria showed low specificity. Stringent clinicopathological correlation to exclude mimics is critical in avoiding diagnostic errors in IgG4-ROD.
{"title":"Assessing IgG4-related ophthalmic disease and its mimics: a comparison of ACR/EULAR, organ-specific and revised comprehensive diagnostic criteria.","authors":"Neha Bakshi, Aditi Aggarwal, Shashi Dhawan, A K Grover, Lalit Duggal, Sonia Badwal, Seema Rao","doi":"10.1136/jcp-2024-209552","DOIUrl":"https://doi.org/10.1136/jcp-2024-209552","url":null,"abstract":"<p><strong>Aims: </strong>Diagnosis of IgG4-related ophthalmic disease (IgG4-ROD) rests on the correlation of clinical features, serological testing and histopathology, using internationally accepted diagnostic criteria for objective interpretation; however, several mimickers of IgG4-RD overlap in clinical presentation and histopathology. We assess histopathological features in a series of presumptive IgG4-ROD cases, with emphasis on histopathological mimics and comparison of three IgG4-ROD diagnostic/classification criteria (organ-specific (OS), revised comprehensive diagnostic (RCD) and American College of Rheumatology/European Alliance of Associations for Rheumatology (ACR/EULAR) criteria).</p><p><strong>Methods: </strong>The histopathology database was screened for cases with clinical/histopathological suspicion of IgG4-ROD. Slides were reviewed, OS, RCD and ACR/EULAR criteria were applied, and the final clinicopathological diagnosis was recorded.</p><p><strong>Results: </strong>37 patients (24 females, 13 males; 19-73 years) were diagnosed as either IgG4-ROD (n=18) or non-IgG4-related disease (n=19). Non-IgG4-related disease group showed elevated serum IgG4 (55.5%), fibrosis (100%), dense lymphoplasmacytic inflammation (92.8%), with an increase in tissue IgG4+plasma cells (57.1%) and elevated IgG4:IgG+plasma cell ratio (14.3%). ACR/EULAR missed 50% (9/18, sensitivity-52.8%) of true IgG4-ROD cases, while OS and RCD criteria missed 11.1% (2/18, sensitivity-88.9%) of IgG-ROD cases. ACR/EULAR criteria mislabelled 7.14% (1/14, specificity-90.9%) while OS and RCD criteria wrongly categorised 71.4% (10/14, specificity-47.4%) and 50% (7/14, specificity-63.2%) specific non-IgG4-ROD cases as IgG4-ROD. Storiform fibrosis, obliterative phlebitis, increased IgG4:IgG+plasma cell ratio and elevated serum IgG were statistically significant in distinguishing IgG4-ROD from its mimics.</p><p><strong>Conclusion: </strong>ACR/EULAR criteria showed high specificity but were cumbersome and sensitivity was low, while RCD and OS criteria showed low specificity. Stringent clinicopathological correlation to exclude mimics is critical in avoiding diagnostic errors in IgG4-ROD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mumin Shao, Lu Zhang, Xia Li, Jiaxin Bi, Xu Jiang, Xuewen Yu, Yingying Liang, Hua Xu, Gang Meng, Xiyu Gong
Aims: Phyllodes tumours (PTs) are relatively common fibroepithelial tumours comprising epithelial and stromal component. Usually, PTs show a spindle cell morphology with a fibroblast phenotype, while some tumour cells exhibit epithelioid morphological features and sarcomatoid transformation. However, the molecular characteristics of this morphology subset remain unclear. This study aimed to summarise the clinicopathological, morphological and molecular characteristics of seven cases of PT with epithelioid features.
Methods: Morphological and clinicopathological characteristics were observed and retrieved. Immunohistochemistry, immunofluorescence and electron microscope were performed on seven cases of epithelioid PT to explore immunophenotypic and ultrastructural characteristics. Transcriptomic and proteomic analyses were conducted to compare differentially expressed genes and proteins between epithelioid PT and classical PT.
Results: Patients with epithelioid PT exhibit a high recurrence rate (42.8%). Morphologically, in addition to having epithelioid cytological features, neoplastic stromal cells exhibit moderate to marked atypia and often exhibit sarcomatoid transformation, similar to the characteristics of borderline PT. Transcriptomic and proteomic analyses demonstrated that epithelioid PTs are distinct from classical PTs in gene expression and protein abundance levels. Immunohistochemical analysis showed that among all differentially expressed proteins, epithelioid PT showed abnormal p16/retinoblastoma expression patterns, similar to those of malignant PT.
Conclusions: Epithelioid PT has unique morphological characteristics, biological behaviour and protein expression profile, which meets the diagnostic criteria of borderline PT and is prone to sarcomatoid transformation. It may be a special morphological subgroup of borderline PT and has partial characteristics of malignant PT, which should be taken seriously in pathological diagnosis and clinical management.
{"title":"Breast phyllodes tumour with epithelioid feature predisposes to malignant transformation.","authors":"Mumin Shao, Lu Zhang, Xia Li, Jiaxin Bi, Xu Jiang, Xuewen Yu, Yingying Liang, Hua Xu, Gang Meng, Xiyu Gong","doi":"10.1136/jcp-2024-209489","DOIUrl":"https://doi.org/10.1136/jcp-2024-209489","url":null,"abstract":"<p><strong>Aims: </strong>Phyllodes tumours (PTs) are relatively common fibroepithelial tumours comprising epithelial and stromal component. Usually, PTs show a spindle cell morphology with a fibroblast phenotype, while some tumour cells exhibit epithelioid morphological features and sarcomatoid transformation. However, the molecular characteristics of this morphology subset remain unclear. This study aimed to summarise the clinicopathological, morphological and molecular characteristics of seven cases of PT with epithelioid features.</p><p><strong>Methods: </strong>Morphological and clinicopathological characteristics were observed and retrieved. Immunohistochemistry, immunofluorescence and electron microscope were performed on seven cases of epithelioid PT to explore immunophenotypic and ultrastructural characteristics. Transcriptomic and proteomic analyses were conducted to compare differentially expressed genes and proteins between epithelioid PT and classical PT.</p><p><strong>Results: </strong>Patients with epithelioid PT exhibit a high recurrence rate (42.8%). Morphologically, in addition to having epithelioid cytological features, neoplastic stromal cells exhibit moderate to marked atypia and often exhibit sarcomatoid transformation, similar to the characteristics of borderline PT. Transcriptomic and proteomic analyses demonstrated that epithelioid PTs are distinct from classical PTs in gene expression and protein abundance levels. Immunohistochemical analysis showed that among all differentially expressed proteins, epithelioid PT showed abnormal p16/retinoblastoma expression patterns, similar to those of malignant PT.</p><p><strong>Conclusions: </strong>Epithelioid PT has unique morphological characteristics, biological behaviour and protein expression profile, which meets the diagnostic criteria of borderline PT and is prone to sarcomatoid transformation. It may be a special morphological subgroup of borderline PT and has partial characteristics of malignant PT, which should be taken seriously in pathological diagnosis and clinical management.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142004376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Juan Zhou, Xuling Su, Dingjun Hu, Li Zhang, Chunyan Chen, Keyang Sun, Huizhen Zhang, Zhiyan Liu
Aims: Fibrocartilaginous dysplasia (FCD) is a subvariant of fibrous dysplasia (FD). This study aims to retrospectively elucidate the clinicopathological and separate genetic features of the cartilaginous and fibro-osseous components of FCD.
Methods: In total, 24 patients (14 men and 10 women) with FCD were included in our cohort. The diagnosis was confirmed morphologically and immunohistochemically, and genetic features were determined via Sanger sequencing.
Results: Five patients were polyostotic, and 19 were monostotic, predominantly concerning the femur. Radiography revealed a well-demarcated ground glass appearance with ring-like or scattered calcification. Histologically, the lesions were characterised by proliferative fibroblasts, immature woven bone and highly differentiated hyaline cartilage. The fibro-osseous components exhibited positive immunoreaction with SATB2 and a low Ki-67 proliferation index. The fibro-osseous and cartilaginous components shared mutations at codon 201 in exon 8 of the guanine nucleotide-binding protein/a-subunit (GNAS) gene, specifically CGT>CAT (p.R201H) in four patients and the wild-type isocitrate dehydrogenase (IDH)1/IDH2 gene. Telomerase reverse transcriptase (TERT) promoter mutations (C288T and C229G) occurred in both fibro-osseous and cartilaginous components in two patients.
Conclusions: FCD encompasses areas of conventional FD with additional cartilage. Importantly, the presence or absence of mutations in the GNAS gene and/or the TERT promoter is common between the fibro-osseous and cartilaginous components of the disease. These results further confirmed FCD as a variant of FD.
{"title":"Molecular confirmation that fibrocartilaginous dysplasia is a variant of fibrous dysplasia.","authors":"Juan Zhou, Xuling Su, Dingjun Hu, Li Zhang, Chunyan Chen, Keyang Sun, Huizhen Zhang, Zhiyan Liu","doi":"10.1136/jcp-2024-209626","DOIUrl":"https://doi.org/10.1136/jcp-2024-209626","url":null,"abstract":"<p><strong>Aims: </strong>Fibrocartilaginous dysplasia (FCD) is a subvariant of fibrous dysplasia (FD). This study aims to retrospectively elucidate the clinicopathological and separate genetic features of the cartilaginous and fibro-osseous components of FCD.</p><p><strong>Methods: </strong>In total, 24 patients (14 men and 10 women) with FCD were included in our cohort. The diagnosis was confirmed morphologically and immunohistochemically, and genetic features were determined via Sanger sequencing.</p><p><strong>Results: </strong>Five patients were polyostotic, and 19 were monostotic, predominantly concerning the femur. Radiography revealed a well-demarcated ground glass appearance with ring-like or scattered calcification. Histologically, the lesions were characterised by proliferative fibroblasts, immature woven bone and highly differentiated hyaline cartilage. The fibro-osseous components exhibited positive immunoreaction with SATB2 and a low Ki-67 proliferation index. The fibro-osseous and cartilaginous components shared mutations at codon 201 in exon 8 of the guanine nucleotide-binding protein/a-subunit (<i>GNAS)</i> gene, specifically CGT>CAT (p.R201H) in four patients and the wild-type isocitrate dehydrogenase (<i>IDH)1/IDH2</i> gene. Telomerase reverse transcriptase (<i>TERT)</i> promoter mutations (C288T and C229G) occurred in both fibro-osseous and cartilaginous components in two patients.</p><p><strong>Conclusions: </strong>FCD encompasses areas of conventional FD with additional cartilage. Importantly, the presence or absence of mutations in the <i>GNAS</i> gene and/or the <i>TERT</i> promoter is common between the fibro-osseous and cartilaginous components of the disease. These results further confirmed FCD as a variant of FD.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141995776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Xiaohong Pu, Yao Fu, Qi Sun, Lin Li, Attigah Kwasi, Ziyan Ma, Xiangshan Fan, Beicheng Sun
Aims Currently, the clinicopathological characteristics of gastric cancer (GC) with oncogenic NTRK alterations are not well known. Although NTRK fusion has been identified as prevalent in DNA mismatch repair protein deficient (dMMR) colorectal cancer (CRC), the relationship between NTRK alterations and dMMR protein expression in GC has not been previously explored.
Methods: Our study comprised 51 cases of EBV(Epstein-barr virus)-associated gastric carcinomas, 94 cases of dMMR GC, 90 cases of gastric adenocarcinoma with hepatoid or enteroblastic differentiation (GAHED) and 256 cases of conventional GC. Furthermore, to investigate the connection between NTRK fusion and dMMR proteins, we collected dMMR tumours of various types, including 21 cases of duodenal adenocarcinomas, 46 endometrioid carcinomas and 82 CRCs. NTRK fusion and amplification were screened in GC and various types of dMMR tumours using fluorescence in situ hybridisation (FISH), while cases positive for FISH translocation underwent next-generation sequencing testing.
Results: Our findings revealed the existence of two cases each of NTRK fusions and NTRK amplifications, which were all enriched in case of GAHED. Additionally, following an analysis of several types of cancers, we discovered that NTRK gene alterations were only present in dMMR CRC.
Conclusions: Our results indicate that NTRK gene alterations are not enriched in GC with dMMR but are specifically enriched in cases of GAHED.
{"title":"NTRK gene alterations were enriched in hepatoid or enteroblastic differentiation type of gastric cancer.","authors":"Xiaohong Pu, Yao Fu, Qi Sun, Lin Li, Attigah Kwasi, Ziyan Ma, Xiangshan Fan, Beicheng Sun","doi":"10.1136/jcp-2023-208865","DOIUrl":"10.1136/jcp-2023-208865","url":null,"abstract":"<p><p><b>Aims</b> Currently, the clinicopathological characteristics of gastric cancer (GC) with oncogenic NTRK alterations are not well known. Although NTRK fusion has been identified as prevalent in DNA mismatch repair protein deficient (dMMR) colorectal cancer (CRC), the relationship between NTRK alterations and dMMR protein expression in GC has not been previously explored.</p><p><strong>Methods: </strong>Our study comprised 51 cases of EBV(Epstein-barr virus)-associated gastric carcinomas, 94 cases of dMMR GC, 90 cases of gastric adenocarcinoma with hepatoid or enteroblastic differentiation (GAHED) and 256 cases of conventional GC. Furthermore, to investigate the connection between NTRK fusion and dMMR proteins, we collected dMMR tumours of various types, including 21 cases of duodenal adenocarcinomas, 46 endometrioid carcinomas and 82 CRCs. NTRK fusion and amplification were screened in GC and various types of dMMR tumours using fluorescence in situ hybridisation (FISH), while cases positive for FISH translocation underwent next-generation sequencing testing.</p><p><strong>Results: </strong>Our findings revealed the existence of two cases each of NTRK fusions and NTRK amplifications, which were all enriched in case of GAHED. Additionally, following an analysis of several types of cancers, we discovered that NTRK gene alterations were only present in dMMR CRC.</p><p><strong>Conclusions: </strong>Our results indicate that NTRK gene alterations are not enriched in GC with dMMR but are specifically enriched in cases of GAHED.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9841338","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Even though analysis of peritoneal fluids (PF) is often requested to medical laboratories for biochemical and morphological tests, there is still no mutual agreement on what the most appropriate way is to manage PF samples and which tests should be appropriately executed. In this update, we tried to identify the most useful tests for PF analysis to establish best practice indications. We performed a literature review and examined available guidelines to select the most appropriate tests by an evidence-based approach. Accordingly, the basic PF profile should include (1) serum to effusion albumin gradient and (2) automated cell counts with differential analysis. This profile allows to determine the PF nature, differentiating between 'high-albumin gradient' and 'low-albumin gradient' effusions, which helps to identify the pathophysiological process causing the ascites formation. Restricted to specific clinical situations, additional tests can be requested as follows: PF lactate dehydrogenase (LDH) and glucose, to exclude (LDH) or confirm (glucose) secondary bacterial peritonitis; PF total protein, to differentiate ascites of cardiac origin from other causes; PF (pancreatic) amylase, for the identification of pancreatic ascites; PF bilirubin, when a choleperitoneum is suspected; PF triglycerides, in differentiating chylous from pseudochylous ascites and PF creatinine, to detect intraperitoneal urinary leakage.
{"title":"Laboratory investigation of peritoneal fluids: an updated practical approach based on the available evidence.","authors":"Giulia Colombo, Elena Aloisio, Mauro Panteghini","doi":"10.1136/jcp-2023-209282","DOIUrl":"10.1136/jcp-2023-209282","url":null,"abstract":"<p><p>Even though analysis of peritoneal fluids (PF) is often requested to medical laboratories for biochemical and morphological tests, there is still no mutual agreement on what the most appropriate way is to manage PF samples and which tests should be appropriately executed. In this update, we tried to identify the most useful tests for PF analysis to establish best practice indications. We performed a literature review and examined available guidelines to select the most appropriate tests by an evidence-based approach. Accordingly, the basic PF profile should include (1) serum to effusion albumin gradient and (2) automated cell counts with differential analysis. This profile allows to determine the PF nature, differentiating between 'high-albumin gradient' and 'low-albumin gradient' effusions, which helps to identify the pathophysiological process causing the ascites formation. Restricted to specific clinical situations, additional tests can be requested as follows: PF lactate dehydrogenase (LDH) and glucose, to exclude (LDH) or confirm (glucose) secondary bacterial peritonitis; PF total protein, to differentiate ascites of cardiac origin from other causes; PF (pancreatic) amylase, for the identification of pancreatic ascites; PF bilirubin, when a choleperitoneum is suspected; PF triglycerides, in differentiating chylous from pseudochylous ascites and PF creatinine, to detect intraperitoneal urinary leakage.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140305767","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ali AlJabban, Mark G Evans, Geoffrey G Fell, Jack P Guccione, Robert A Edwards, Geraldine S Pinkus, Robert F Padera, Olga Pozdnyakova, Annette S Kim
Aims: The identification of haemophagocytosis in bone marrow (BM) is recurrently identified in patients with severe COVID-19. These initial COVID-19 autopsy studies have afforded valuable insight into the pathophysiology of this disease; however, only a limited number of case series have focused on lymphoid or haematopoietic tissues.
Methods: BM and lymph node (LN) specimens were obtained from adult autopsies performed between 1 April 2020 and 1 June 2020, for which the decedent had tested positive for SARS-CoV-2. Tissue sections (H&E, CD3, CD20, CD21, CD138, CD163, MUM1, kappa/lambda light chains in situ hybridisation) were examined by two haematopathologists, who recorded morphological features in a blinded fashion. Haemophagocytic lymphohistiocytosis (HLH) was assessed based on HLH 2004 criteria.
Results: The BM demonstrated a haemophagocytic pattern in 9 out of 25 patients (36%). The HLH pattern was associated with longer hospitalisation, BM plasmacytosis, LN follicular hyperplasia and lower aspartate aminotransferase (AST), as well as ferritin at demise. LN examination showed increased plasmacytoid cells in 20 of 25 patients (80%). This pattern was associated with a low absolute monocyte count at diagnosis, lower white cell count and lower absolute neutrophil count at demise, and lower ferritin and AST at demise.
Conclusions: Autopsy results demonstrate distinct morphological patterns in BM, with or without haemophagocytic macrophages, and in LN, with or without increased plasmacytoid cells. Since only a minority of patients met diagnostic criteria for HLH, the observed BM haemophagocytic macrophages may be more indicative of an overall inflammatory state.
{"title":"Autopsy findings from patients diagnosed with COVID-19 demonstrate unique morphological patterns in bone marrow and lymph node.","authors":"Ali AlJabban, Mark G Evans, Geoffrey G Fell, Jack P Guccione, Robert A Edwards, Geraldine S Pinkus, Robert F Padera, Olga Pozdnyakova, Annette S Kim","doi":"10.1136/jcp-2023-208875","DOIUrl":"10.1136/jcp-2023-208875","url":null,"abstract":"<p><strong>Aims: </strong>The identification of haemophagocytosis in bone marrow (BM) is recurrently identified in patients with severe COVID-19. These initial COVID-19 autopsy studies have afforded valuable insight into the pathophysiology of this disease; however, only a limited number of case series have focused on lymphoid or haematopoietic tissues.</p><p><strong>Methods: </strong>BM and lymph node (LN) specimens were obtained from adult autopsies performed between 1 April 2020 and 1 June 2020, for which the decedent had tested positive for SARS-CoV-2. Tissue sections (H&E, CD3, CD20, CD21, CD138, CD163, MUM1, kappa/lambda light chains in situ hybridisation) were examined by two haematopathologists, who recorded morphological features in a blinded fashion. Haemophagocytic lymphohistiocytosis (HLH) was assessed based on HLH 2004 criteria.</p><p><strong>Results: </strong>The BM demonstrated a haemophagocytic pattern in 9 out of 25 patients (36%). The HLH pattern was associated with longer hospitalisation, BM plasmacytosis, LN follicular hyperplasia and lower aspartate aminotransferase (AST), as well as ferritin at demise. LN examination showed increased plasmacytoid cells in 20 of 25 patients (80%). This pattern was associated with a low absolute monocyte count at diagnosis, lower white cell count and lower absolute neutrophil count at demise, and lower ferritin and AST at demise.</p><p><strong>Conclusions: </strong>Autopsy results demonstrate distinct morphological patterns in BM, with or without haemophagocytic macrophages, and in LN, with or without increased plasmacytoid cells. Since only a minority of patients met diagnostic criteria for HLH, the observed BM haemophagocytic macrophages may be more indicative of an overall inflammatory state.</p>","PeriodicalId":15391,"journal":{"name":"Journal of Clinical Pathology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9967395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}