Virchows Archiv最新文献

{"title":"Pseudomyogenic hemangioendothelioma presenting as a penile lesion.","authors":"Reem Youssef, Jessica L Davis, William J Anderson, Andres M Acosta","doi":"10.1007/s00428-024-03944-z","DOIUrl":"10.1007/s00428-024-03944-z","url":null,"abstract":"<p><p>Pseudomyogenic hemangioendothelioma (PHE) is a rare, usually multifocal neoplasm typically affecting individuals in the second-to-fourth decade of life, with a male predominance. It often arises in the distal extremities and characteristically involves multiple tissue planes. Presentation of this neoplasm as a primary penile lesion is exceedingly rare, with only five cases previously documented in the literature. We report the clinicopathologic features of five additional PHEs presenting as primary penile tumors and review previously published cases. Tumors affected young to middle-aged adult patients and had a relatively bland clinical appearance, mimicking indolent lesions such as epidermal inclusion cysts. Microscopically, they were ill-defined nodules composed of plump spindle cells and round neoplastic cells with abundant, densely eosinophilic cytoplasm and eccentric nuclei resembling rhabdomyoblasts. Neoplastic cells demonstrated infiltrative growth, including foci of perineural invasion. Immunohistochemistry demonstrated invariable co-expression of keratins, endothelial markers (CD31 and/or ERG), and FOSB. In conclusion, penile PHE is rare but should be considered in the differential diagnosis of penile lesions with spindle cell and/or rhabdomyoblast-like morphology affecting young to middle-aged adult patients.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":"1157-1160"},"PeriodicalIF":3.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142475931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Heterogeneity of pancreatic neoplasms arising in pancreatic heterotopia: a single institution review.","authors":"Kathleen Byrnes, Liang Kang, Ryan Sappenfield, Xiuli Liu","doi":"10.1007/s00428-024-03992-5","DOIUrl":"https://doi.org/10.1007/s00428-024-03992-5","url":null,"abstract":"<p><p>Pancreatic heterotopia (PH) is a well-characterized entity that can arise in the gastrointestinal tract. Many pancreatic disease processes, ranging from inflammatory to neoplastic, can also be seen in PH. Neoplastic transformation in PH remains exceedingly rare. A retrospective review of PH cases (1990 to 2020) excised at our institution was performed. Cases were selected based on prior criteria for identifying neoplastic transformation in PH. Clinical information was obtained through the electronic medical record. A total of 163 gastrointestinal tract PH cases were identified. Of these, seven had a neoplastic process in the heterotopic pancreas: two with well-differentiated neuroendocrine tumors, three with pancreatic intraepithelial neoplasia, and one each developed ductal adenocarcinoma or neuroendocrine microadenoma. The majority were men (71.4%) with a median age of 64 years. Seven patients had clinical symptoms including weight loss, abdominal pain, and small bowel obstruction. Five cases arose in the small intestine and two cases arose in the stomach. Lesions involved the submucosa (42.8%), serosa (28.6%), and muscularis propria (28.6%). In all cases, the PH was composed of acini, ducts, and islet cells. The mean follow-up time was 55 months (range: 3-159 months). One patient had regional lymph node metastasis and died with disease from surgical complications. No cases of distant metastasis were identified. Neoplasia in PH is a rare phenomenon that can occur, including malignant entities such as ductal adenocarcinoma, but also other tumor types. Recognition of this entity remains important for pathologists to avoid diagnostic confusion and provide accurate tumor staging.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142755712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanding horizons in a new era for pathology: perspectives from the ASCO meeting.","authors":"F Pezzuto, R C Oliveira, A Ryška","doi":"10.1007/s00428-024-03982-7","DOIUrl":"https://doi.org/10.1007/s00428-024-03982-7","url":null,"abstract":"","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142732965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A molecular and immunohistochemical study of 37 cases of ovarian Sertoli-Leydig cell tumor.","authors":"Kristýna Němejcová, Nikola Hájková, Eva Krkavcová, Michaela Kendall Bártů, Romana Michálková, Adam Šafanda, Marián Švajdler, Tetiana Shatokhina, Jan Laco, Radoslav Matěj, Jitka Hausnerová, Jozef Škarda, Monika Náležinská, Tomáš Zima, Pavel Dundr","doi":"10.1007/s00428-024-03984-5","DOIUrl":"https://doi.org/10.1007/s00428-024-03984-5","url":null,"abstract":"<p><p>This study provides an analysis of 37 ovarian Sertoli-Leydig cell tumors (SLCT), focusing on their morphological, immunohistochemical, and molecular features. The cohort was comprised of 9 well-differentiated, 25 moderately differentiated, and 3 poorly differentiated tumors. The immunohistochemical analysis was performed with 28 markers, including diagnostic markers and markers with possible predictive significance. The results showed high expression of sex cord markers (FOXL2, SF1, inhibin A, CD99, calretinin, ER, PR, AR), and variable expression of other markers such as CKAE1/3 (83%), CAIX (14%), and MUC4 (1%). Loss of PTEN expression was present in 14% of cases, and CTLA4 expression was seen in 43% of cases. All tumors were MMR proficient and HER2 and PD-L1 negative. The molecular analysis showed DICER1 mutations in 54.5% of cases, and a FOXL2 mutation in 6% of tumors. In addition, we detected 2 cases with TERT promoter mutation. RNA NGS sequencing identified significant differences in mRNA expression between DICER1^MUT and DICER1^WT tumors. The DICER1^WT tumors showed increased expression of PRKCA, HNF1A, LDLR, and MAP2K5. On the contrary, the DICER1^MUT cases showed increased expression of CDK6, NOTCH2, and FGFR2. The results of our study show that SLCTs exhibit distinct molecular features based on their degree of differentiation. We have confirmed that DICER1 mutations are characteristic of moderately and poorly differentiated SLCTs, while well-differentiated SLCTs may represent a distinct entity. DICER1^MUT and DICER1^WT tumors showed different mRNA expression profiles. The FOXL2 mutation is less common in these tumors and is mutually exclusive with the DICER1 mutation.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142732956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Low CXCL11 expression is indicative of poor prognosis in rectal cancer patients undergoing preoperative chemoradiotherapy: a retrospective cohort study.","authors":"Chia-Lin Chou, Cheng-Yi Lin, Wan-Shan Li, Sung-Wei Lee, Ching-Chieh Yang, Yu-Feng Tian, Yow-Ling Shiue, Hsin-Hwa Tsai, Hong-Yue Lai","doi":"10.1007/s00428-024-03974-7","DOIUrl":"https://doi.org/10.1007/s00428-024-03974-7","url":null,"abstract":"<p><strong>Introduction: </strong>Neoadjuvant concurrent chemoradiotherapy (CCRT) is routinely used before surgery in patients with locally advanced rectal cancer to reduce tumor size and decrease the risk of local recurrence. However, the disease-specific survival has not improved in most cases due to distant metastases. In selected individuals exhibiting a clinical complete response, non-operative management may be allowed; however, those who presented no or little response tend to have an inferior prognosis. Consequently, refined molecular characterization could aid in predicting which patients would benefit from neoadjuvant chemoradiotherapy.</p><p><strong>Methods: </strong>The mRNA level (by transcriptomic profiling) and protein expression (by immunohistochemical staining) of C-X-C motif chemokine ligand 11 (CXCL11) were integrated to predict neoadjuvant chemoradiotherapy efficacy. For survival analysis, clinicopathological features and CXCL11 immunoreactivity that were statistically significant in univariate analysis were included in multivariate analysis using the Cox proportional hazards regression model.</p><p><strong>Results: </strong>We identified that the CXCL11 level exhibits the most significant downregulation among neoadjuvant chemoradiotherapy non-responders. Using tumor samples from our rectal cancer cohort (n = 343) with immunohistochemistry validation, we demonstrated that low CXCL11 immunoexpression shows significant correlations with advanced disease and positive lymph nodes both prior to and following CCRT (all p < 0.001), vascular and perineural invasion (p < 0.001 and p = 0.006), and poor response to CCRT (p < 0.001). Moreover, low CXCL11 immunoexpression was an independent adverse prognostic factor significantly associated with patient survival. Additionally, we further identified pyroptotic cell death as an unrevealed role of CXCL11 in rectal cancer through bioinformatic analysis.</p><p><strong>Conclusion: </strong>CXCL11 expression may serve as an early predictor of clinical outcomes and aid in therapeutic decision-making by identifying individuals likely to respond to neoadjuvant chemoradiotherapy in rectal cancer.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142732976","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cutaneous hybrid cysts with matrical differentiation are mostly sporadic and related to CTNNB1 mutation.","authors":"Corentin Ly Thai Bach, Anne Tallet, Christine Bonenfant, Thierry Lecomte, Nicolas Piton, Mahtab Samimi, Serge Guyétant, Thibault Kervarrec","doi":"10.1007/s00428-024-03986-3","DOIUrl":"https://doi.org/10.1007/s00428-024-03986-3","url":null,"abstract":"<p><p>Recurrent mutations in the CTNNB1 or APC genes leading to the activation of the Wnt/betacatenin pathway are observed in adnexal tumors with matrical differentiation. While most pilomatricomas arise sporadically and harbor CTNNB1 mutations, cutaneous hybrid cysts combining epidermal and matrical differentiations have been mostly reported in a context of the familial adenomatosis polyposis/Gardner's syndrome related to germinal mutations of APC. The objective of this study is to understand the pathogenesis of hybrid cysts combining epidermal and matrical differentiations. The 287 cases diagnosed as pilomatricoma/hybrid cysts registered between January 1, 2015 and February 21, 2023 in the Pathology Department at Tours University Hospital Center were considered for inclusion. After diagnosis confirmation, all cases were classified as pilomatricomas or hybrid cysts. Clinical data and microscopic features of the two groups were compared. Immunohistochemical detection of the betacatenin and CTNNB1/APC genes sequencing were performed in all hybrid cysts. Among the cohort, ten cases were classified as hybrid cysts (4%). None had a personal or familial history of familial adenomatosis polyposis. The immunochemistry confirmed a betacatenin nuclear expression in the matrical component in all excepted one cases, while no nuclear accumulation was observed in the epidermal component of most hybrid cysts (n = 8, 80%). CTNNB1 mutations were detected in all hybrid cysts with interpretable sequencing data (n = 7/10). By contrast, only a variant of uncertain significance (class 3) was detected in APC in association with a pathogenic CTNNB1 mutation in one case. Hybrid cysts are rare entities consisting in 4% of the tumors analyzed in our study. Our results suggest that most hybrid cysts occur sporadically and are associated with CTNNB1 somatic mutations.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and histopathological features of immune checkpoint inhibitor-induced lung toxicity.","authors":"Ines Rolim, Antonio Lopez-Beltran, Joana Ip, Beatriz Nunes, Ricardo Coelho, Marcos Pantarotto, Nuno Gil, Carol Farver","doi":"10.1007/s00428-024-03976-5","DOIUrl":"https://doi.org/10.1007/s00428-024-03976-5","url":null,"abstract":"<p><p>A new era in cancer therapy emerged with the arrival of immune-checkpoint inhibitors (ICIs), followed by a new cadre of immune-related adverse events that affect up to 40% of patients. Literature on the pathological features associated with these events is still limited. Therefore, to expand our knowledge of the histopathologic spectrum of pulmonary changes, we conducted a case study series analysis on 16 non-neoplastic lung samples collected during or after ICI therapy. A set of predefined histological features related to the four different \"compartments\" (interstitium, pneumocyte, alveolar space, and bronchial mucosa), the CD4/CD8 T cell ratio, and the SP263 PD-L1 expression in the immune cells was assessed in three study categories [ICI + radiotherapy with/without chemotherapy (RT-based), ICI + chemotherapy (CT-based), ICI-based monotherapy (ICI-mono)]. Our results identified interstitial thickening, interstitial lymphocytic infiltrate, pneumocyte desquamation, intra-alveolar fibrin, or foamy macrophages in at least half of the cases in each of the study categories; all five features were present in 4 (RT-based), 3 (CT-based) and 1 (ICI-mono) patients. Hyaline membrane was a frequent finding in CT-based (80%) and ICI-mono (100%) compared to RT-based (44%) category. Moreover, CD4/CD8 ratio was ≤ 1 for almost all cases of the three study categories. Finally, a positive SP263 PD-L1 expression was identified in 50% or more of each study category. In conclusion, our results indicate that histopathologic findings in patients treated with ICI therapy are not diagnostic and varied. Additionally, these results are in line with recent studies showing an expansion on CD8⁺ T cell subset in patients under ICI treatment and highlight the synergism of polytherapy.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142693725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endocervical adenocarcinoma with a micropapillary component: a clinicopathologic analysis in the setting of current WHO classification.","authors":"Keyi Liu, Haiyan Shi, Limei Gao, Lei Ye, Bingjian Lu","doi":"10.1007/s00428-024-03971-w","DOIUrl":"https://doi.org/10.1007/s00428-024-03971-w","url":null,"abstract":"<p><p>Our study aimed to investigate the clinicopathologic and molecular features of endocervical adenocarcinoma with a micropapillary component (EAC-MP) in the setting of current classification schema. We investigated 26 EAC-MP from consecutive 511 adenocarcinomas. HER2 status was analyzed by immunohistochemistry and fluorescence in situ hybridization. Four cases were performed with targeted next-generation sequencing (NGS). We found that HPV-associated adenocarcinomas (HPVA) with a micropapillary component (HPVA-MP) (n = 12) had a higher frequency of large tumor size (> 2 cm), Silva pattern C (12/12, 100%), invasion of the deep cervical wall (> 2/3) (8/12, 66.7%), lymphovascular space invasion (LVSI) (11/12, 91.7%), lymph node metastasis (4/11, 36.4%), FIGO stage III/IV (4/12, 33.3%), and HER2 amplification (3/12, 25%, P = 0.015), compared to those without (HPVA-NMP (all P < 0.05). HPV-independent adenocarcinomas (HPVI) with a micropapillary component (HPVI-MP) (n = 14) had LVSI more commonly than those without (HPVI-NMP) (P = 0.033). Survival analysis indicated that HPVA-MP was associated with worse overall survival and recurrence-free survival than HPVA-NMP (P < 0.01). Particularly, in patients with Silva pattern C, HPVA-MP appeared to have more adverse clinical outcomes (P < 0.01). No survival differences were found in HPVI-MP versus HPVI-NMP (P > 0.05). NGS identified significant mutations in STK11, TERT, ERBB2, TP53, PIK3CA, ARID1A, and NTRK2. We conclude that the micropapillary structure is an indicator for unfavorable clinical outcomes in HPVA, and can aid in the prognostic stratification of Silva pattern C EAC. The presence of HER2 amplification and specific gene mutations raise the possibility for targeted therapy in the future.</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Conventional (bone-type) giant cell tumor of the larynx: the first case with proven H3-3A: c.103G >T (p.Gly35Trp) mutation.","authors":"Jan Laco, Hana Vosmikova, Jana Satankova, Jana Dedkova, Jan Mejzlik, Viktor Chrobok, Abbas Agaimy","doi":"10.1007/s00428-024-03983-6","DOIUrl":"10.1007/s00428-024-03983-6","url":null,"abstract":"<p><p>This report documents the first case of a conventional (bone-type) giant cell tumor of the larynx, in which the diagnosis was confirmed by molecular genetic analysis. A 50-year-old non-smoking man experienced progressive hoarseness lasting for 3 months. Imaging showed a 40-mm tumor arising from the right thyroid cartilage. The total laryngectomy was performed. Grossly, the tumor was solid and whitish, with areas of hemorrhage. Microscopically, the tumor consisted of a biphasic population with mononuclear cells with round to oval nuclei, small nucleoli, and pale eosinophilic cytoplasm admixed with evenly distributed dispersed osteoclast-like giant cells. Immunohistochemically, the neoplastic mononuclear cells expressed diffusely vimentin and p63 and focally SATB2. Admixed mononuclear histiocytes coexpressed CD68 and CD163, while the osteoclast-like giant cells showed only CD68 expression. Most importantly, all mononuclear tumor cells showed strong nuclear expression of anti-histone H3.3 G34W antibody. Subsequent next-generation sequencing confirmed the missense mutation of gene H3-3A: c.103G>T (p.Gly35Trp).</p>","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: What is new in fibroblastic/myofibroblastic tumors in children.","authors":"Alyaa Al-Ibraheemi, Yan Zhou, Emma Rullo, Rita Alaggio","doi":"10.1007/s00428-024-03981-8","DOIUrl":"10.1007/s00428-024-03981-8","url":null,"abstract":"","PeriodicalId":23514,"journal":{"name":"Virchows Archiv","volume":" ","pages":""},"PeriodicalIF":3.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}