International Journal of Surgical Pathology最新文献

{"title":"Primary Renal Well-Differentiated Neuroendocrine Tumor: A Clinicopathologic and Immunohistochemical Analysis of a Case Series With Emphasis on Potential Diagnostic Pitfalls.","authors":"Liwei Jia, Urooba Nadeem, Payal Kapur","doi":"10.1177/10668969251316909","DOIUrl":"10.1177/10668969251316909","url":null,"abstract":"<p><p><i>Introduction</i>. Primary renal well-differentiated neuroendocrine tumor may present a unique diagnostic and therapeutic challenge. In this retrospective study, we offered insights derived from our clinical experience. <i>Methods</i>. A search of our institutional database (1998-2023) was performed to identify primary renal well-differentiated neuroendocrine tumors, followed by comprehensive clinical, histopathological and immunohistochemical analysis, with emphasis on potential diagnostic pitfalls. <i>Results</i>. Five primary renal well-differentiated neuroendocrine tumors were identified, all of which exhibited a combination of nested, trabecular and tubular growth patterns and renal parenchymal infiltration. Two tumors invaded into the renal sinus. The expression of commonly-used neuroendocrine markers was detected in 5 tumors and PAX8 immunostain was negative in all tumors. During a median follow-up of 119 months (range 12-142 months), one patient received adjuvant chemotherapy due to regional lymph node metastasis at the time of diagnosis. The patient was found to haveliver metastasis at 15 months after the surgery by imaging. This tumor harbored <i>BRAF</i> c.1/99T>A, p.V600E and <i>CDKN2A</i> c.35delC, p.S12fs variants. Liver metastasis was identified in another patient 142 months after his initial presentation. No local recurrence or distant metastasis was detected in other patients. <i>Conclustions</i>. Our experience demonstrates that primary renal well-differentiated neuroendocrine tumors may exhibit indolent behavior, even tumors with local invasion. Most patients were managed with surgical resection alone. In daily practice, they may be misdiagnosed as renal cell carcinomas, especially in biopsy specimens, due to their rarity. Our study expands the clinicopathologic characteristics and immunohistochemical features of this rare entity to raise awareness, with emphasis on potential diagnostic pitfalls.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1383-1392"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143483060","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}

{"title":"Molecular Characterization of Vascular Transformation of Lymph Node Sinuses via Oncomine Comprehensive Assay.","authors":"Shaymaa Hegazy, Rana Naous","doi":"10.1177/10668969251314122","DOIUrl":"10.1177/10668969251314122","url":null,"abstract":"<p><p>Vascular transformation of lymph node sinuses (VTSs) is defined as phenotypic transformation of the lymph node sinusoidal lining from lymphatic to vascular endothelium. The pathogenesis of VTS remains unclear. Thus far, VTS has not been characterized at the molecular level. Herein, we shed some light on VTS pathogenesis while providing a detailed description of its clinical, histopathologic, immunophenotypic, and molecular features. Our specimens involved 2 women and 3 men, aged 36 to 66 years (mean 49 years old). The lymph nodes were in the right inguinal (<i>n</i> = 2), left axillary (<i>n</i> = 1), right renal perihilar (<i>n</i> = 1), and left external iliac (<i>n</i> = 1) regions. The lesions ranged from 0.5 cm to 1.5 cm (mean 0.9 cm). All 5 specimens showed no recurrences on follow-up. Three specimens exhibited a spindle cell subtype, 1 specimen showed a mixed subtype, and another specimen displayed solid subtype. Immunohistochemically, VTS demonstrated variable staining for CD31, CD34, ERG, D2-40, and SMA. Next-generation sequencing revealed mutations in ataxia-telangiectasia mutated (Tier I/II) and <i>NBN</i> (variants of uncertain significance [VUSs]) genes in 1 specimen, while mutations in <i>POLE</i> (VUS), <i>FANCI</i> (VUS), <i>ARID1A</i> (VUS), <i>ERBB4</i> (VUS), and <i>MSH6</i> (VUS) genes were seen in 3 other specimens. The VUS genomic alterations were regarded as germline mutations given their variant allele frequency approaching 50%. In conclusion, most genomic alterations in VTS are germline VUS with rare pathogenic Tier I/II mutation detected in 1 specimen. Based on our case series, it is appropriate to consider VTS as a nonneoplastic process until more data exist.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1373-1382"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143501244","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}

{"title":"An Unexpected Finding of a Large Mixed Epithelial and Stromal Tumor of the Bilateral Seminal Vesicles in a Patient with Lower Urinary Tract Obstruction.","authors":"Haili Luo, Andrew Shepherd, James Kovacic, Ankur Dhar, Krishan Rasiah, Christopher Toon","doi":"10.1177/10668969241309942","DOIUrl":"10.1177/10668969241309942","url":null,"abstract":"","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1437-1440"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080007","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}

{"title":"Benign Pathologies Encountered in the Whipple Pancreatico-Duodenectomy Specimen- 11-Year Experience from a Tertiary Care Center.","authors":"Sunayana Misra, Vrushali Mahajan, Surbhi Kansal, Divya Khaitan, Seema Rao, Sonia Badwal, Samiran Nundy, Kishan Rawat, Shashi Dhawan","doi":"10.1177/10668969251323932","DOIUrl":"10.1177/10668969251323932","url":null,"abstract":"<p><p>IntroductionPancreaticoduodenectomy is the standard treatment for resectable pancreatic head malignancies and other ampullary/peri-ampullary lesions. It is also the standard of care for symptomatic relief in chronic pancreatitis. However, despite advancements in diagnostic modalities, some lesions that are clinically suspicious for malignancy may reveal a surprising benign pathology. Thus, various neoplastic and non-neoplastic lesions are encountered in the pancreaticoduodenectomy specimens.MethodsPancreaticoduodenectomy specimens received at our institute over a period of 11 years were retrieved. Only those patients with a final diagnosis of benign neoplastic or non-neoplastic disease were included in the study. The clinical data, age, sex, presenting complaint, relevant imaging, cyst fluid cytology, and preoperative tissue diagnosis wherever available, were recorded. Patients with a preoperative malignant diagnosis for which pancreaticoduodenectomy was performed and subsequently turned out to be benign/non-neoplastic were analyzed for possible preoperative diagnostic pitfalls.ResultsBenign tumors and non-neoplastic lesions together comprised 8% of the total patients. Serous cystic neoplasm was the most common benign tumor while the most common non-neoplastic entity was chronic pancreatitis. Concordance of preoperative fine-needle aspiration cytology diagnosis with the final histopathological diagnosis was noted in 44% patients. Other rare lesions such as choledochocele, arteriovenous malformation, and adenomyomatous hyperplasia of the common bile duct were also encountered.ConclusionIn this study, we highlight the spectrum of benign neoplastic and non-neoplastic lesions encountered in pancreaticoduodenectomy specimens at a tertiary care center, emphasizing on those lesions that were clinically suspicious for malignancy and revealed a surprising benign diagnosis on the final surgical pathology excision specimen.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1411-1424"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143657132","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}

{"title":"Extragastrointestinal Gastrointestinal Stromal Tumor Presenting as Paratesticular Mass - A Diagnostic Conundrum.","authors":"Bakialakshmi Velayutham, Hari Siddardha Malla, S Manwar Ali, Ashok Kumar Sahoo, Shalini Chaudhary, Pavithra Ayyanar","doi":"10.1177/10668969251324534","DOIUrl":"10.1177/10668969251324534","url":null,"abstract":"<p><p>Extragastrointestinal gastrointestinal stromal tumors are uncommon in the paratesticular region and pose a diagnostic challenge. A 47-year-old man presented with a painless testicular mass for three months. Ultrasonography showed a solid lesion in the right distal spermatic cord region. Excision of the mass showed an encapsulated solid, firm tumor of size 5 cm. Microscopic examination showed a spindle cell tumor arranged in fascicles, nodular and storiform patterns. The mitotic rate was 17-19/5 mm². The mesothelial lining of the tunica vaginalis was noted. Using immunohistochemistry, the tumor cells were positive for KIT, DOG1, and CD34, while negative for SMA, desmin, S100, STAT6, and EMA. H3K27me3 was retained in the tumor cells. The MIB-1 labeling index was 25% in the area of greatest labeling. We report an additional example of paratesticular EGIST and discuss the diagnostic approach and literature review. Knowledge about this tumor at rare sites and the clinicopathological features are needed for the definitive diagnosis and prognosis.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1531-1535"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143523371","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}

{"title":"A Novel <i>CLTC::RPS6KB1</i> Fusion in a Poorly Differentiated Carcinoma Involving the Lung and Mediastinum.","authors":"Mitchell Zhao, Nicholas Protopsaltis, Mina Sabet, Shulei Sun, Grace Lin, Farnaz Hasteh, Wei Song","doi":"10.1177/10668969251323935","DOIUrl":"10.1177/10668969251323935","url":null,"abstract":"<p><p>Cancer genetics studies have dramatically advanced the understanding of the molecular drivers in various types of neoplasms. This progress is also leading to the discovery of more new molecular agents to block those drivers, which has significantly improved cancer patient survival, especially in non-small cell lung cancer (NSCLC). However, in about 25% of NSCLC tumors molecular drivers are not yet known. Herein, we present a poorly differentiated carcinoma involving lung and mediastinum. Next generation sequencing-based RNAseq identified a novel fusion, <i>CLTC::RPS6KB1</i>, while no other known drivers were present.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1526-1530"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12276399/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>PRRX1</i>-Rearranged Mesenchymal Tumor in a Core Needle Biopsy.","authors":"Claudia Grosse, Petar Noack, Alexandra Grosse","doi":"10.1177/10668969241311492","DOIUrl":"10.1177/10668969241311492","url":null,"abstract":"<p><p><i>PRRX1-</i>rearranged mesenchymal tumors are a recently described subset of soft tissue tumors, characterised by a <i>PRRX1::NCOA1/2</i> or <i>PRRX1::KMT2D</i> gene fusion and by distinctive morphological features.¹ They show a circumscribed, multi-nodular growth pattern with bland spindle cells in a myxo-collagenous stroma, surrounded by staghorn-like vessels with perivascular hyalinization. First described by Lacambra et al in 2019,² they were originally named <i>PRRX1-NCOAx</i>-rearranged fibroblastic tumors. A total of 22 tumors have been reported since then.^{1- 7} Later, a subsequent study expanded the molecular spectrum of these tumors by detecting an alternative <i>PRRX1::KMT2D</i> fusion and variable degrees of S100 and SOX10 expression in a subset of tumors, which led to a proposed revision of the original nomenclature to <i>PRRX1</i>-rearranged mesenchymal tumors, a term, that comprises also tumors with non-<i>NOCA1/2</i> fusion partners and allows for the possibility of partial neural or neuroectodermal differentiation. Loss of <i>RB1</i> has been recently detected in two <i>PRRX1-</i>rearranged mesenchymal tumors on immunohistochemistry and FISH analysis,⁷ suggesting a potential overlap with <i>RB1</i>-deficient soft tissue tumors. As an emerging entity, <i>PRRX1-</i>rearranged mesenchymal tumors have not been included (yet) in the publication of the 2020 World Health Organization classification of soft tissue and bone tumors.⁸.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1454-1458"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065699","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}

{"title":"Detection of Microsatellite Instability in Endometrial Carcinoma Using a Novel Homopolymer Assay.","authors":"Catherine M Nicka, Donald C Green, Gregory J Tsongalis, Laura J Tafe","doi":"10.1177/10668969241311500","DOIUrl":"10.1177/10668969241311500","url":null,"abstract":"<p><p>Approximately 30% of endometrial cancers are associated with microsatellite instability (MSI) caused by deficiencies in the DNA mismatch repair (MMR) genes (dMMR). MMR testing by immunohistochemistry for MMR proteins and MSI testing by polymerase chain reaction (PCR) are routinely utilized to screen patients with colorectal cancer and endometrial cancer for Lynch syndrome and, more recently, to identify patients eligible for immunotherapy. The Biocartis Idylla™ MSI assay is a fully automated, cartridge-based real-time PCR assay. The assay uses as little as one formalin-fixed paraffin-embedded (FFPE) tumor section and is designed to detect seven novel MSI biomarkers consisting of short homopolymers located in <i>ACVR2A</i>, <i>BTBD7</i>, <i>DIDO1</i>, <i>MRE11</i>, <i>RYR3</i>, <i>SEC31A</i> and <i>SULF2</i> genes. Mutation in two of these markers is considered MSI-H. FFPE of 35 ECs (25 dMMR and 10 microsatellite stable (MSS)) were used in this study. When tumor content was ≤20% on a slide, macrodissection was performed. The overall percent agreement with MMR IHC was 97% (31/32) with sensitivity = 96% and specificity = 100%. Pre-analytic evaluation of the manufacturer's recommended 20% tumor content cut-off is essential to ensure valid results. The Idylla MSI assay offers several advantages over other PCR-based assays including minimal hands-on time, rapid turn-around-time, no requirement for a paired normal sample and the use of FFPE directly without an extraction step.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1341-1348"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143541950","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}

{"title":"High-grade Endometrial Endometrioid Carcinoma: A Case Report of Complete Transdifferentiation to Pilomatrix-like Carcinoma.","authors":"Gabriela Patrichi, Andrei Patrichi, Andrea Palicelli, Thais Maloberti, Dario de Biase, Robert Soslow, Simona Stolnicu","doi":"10.1177/10668969251326262","DOIUrl":"10.1177/10668969251326262","url":null,"abstract":"<p><p>IntroductionEndometrial endometrioid carcinomas can show multiple lines of differentiation, including pilomatrix-like high-grade endometrioid carcinoma, a recently described tumor with similarity to cutaneous pilomatrix carcinoma and associated with very aggressive clinical behavior.MethodsWe present a 56-year-old woman with an endometrial tumor associated with secondary involvement of both ovaries, left tubo-ovarian ligament and obturator lymph nodes. The diagnosis of high-grade endometrioid carcinoma in a previously performed curettage was confirmed in the hysterectomy specimen.ResultsMicroscopically, the tumor exhibited a solid, nested/insular pattern with basaloid cells, predominantly seen at the periphery, ghost cell keratinization towards the center of the nests, and extensive geographic necrosis. No low-grade endometrioid carcinoma component was identified throughout the primary tumor or metastases after extensive sampling. Immunohistochemical assessment showed aberrant cytoplasmic and nuclear expression of β-catenin, and focal CDX2 expression. Tumor cells were negative for PAX8, and estrogen and progesterone receptors (ER/PR). The next-generation sequencing (NGS) analysis found a <i>CTNNB1</i> pathogenic mutation (p.Ser37Phe, c.110C > T; variant allele frequency: 18.6%). Based on these morphologic, immunohistochemistry and NGS analysis, a diagnosis of pilomatrix-like high-grade endometrioid carcinoma was established.ConclusionThe absence of a low-grade endometrioid carcinoma component makes this pilomatrix-like high-grade endometrioid carcinoma, a very rare tumor, even more special. This and the absence of PAX8 and ER/PR expression in an unusual morphological context proved to be diagnostically challenging. This patient's presentation at high stage is concordant with the literature's description of this tumor as aggressive. It is not yet known whether standard adjuvant therapies for high-risk endometrial carcinomas are effective.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1536-1540"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624753","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}

{"title":"Incidence and Pitfalls of Intratesticular Adipose Tissue Encountered in Orchiectomy Specimens.","authors":"Ngoc-Nhu Jennifer Nguyen, Hailey Gosnell, Richard R Pacheco, Mahmut Akgul, Sean R Williamson, Ankur R Sangoi","doi":"10.1177/10668969241309941","DOIUrl":"10.1177/10668969241309941","url":null,"abstract":"<p><p>Based on the eighth edition of the American Joint Committee on Cancer staging system, postpubertal germ cell tumors (GCT) and malignant sex cord-stromal tumors (SCST) of the testis invading hilar soft tissue are of pathologic stage pT2. Adipose tissue is typically used as an anatomical landmark by pathologists for determining hilar soft tissue invasion. Herein, we evaluated for the presence, location, and extent of intratesticular fat in a multi-institutional cohort of orchiectomies. Consecutive orchiectomies from 3 academic institutions were reviewed (n = 605), including both benign and malignant specimens. Intratesticular fat was identified by hematoxylin and eosin (H&E) evaluation in 11/605 (1.8%) orchiectomies, including the following diagnoses: mixed non-teratomatous GCT (n = 1), mixed GCT with a teratoma component (n = 2), pure teratoma (n = 2), Leydig cell hyperplasia (n = 1), regressed GCT (n = 1), hormone therapy effect (n = 1), atrophic changes (n = 1), fibrosis (n = 1), infarction (n = 1). Adipose tissue was located within the rete testis stroma (n = 2), just below the rete testis (n = 4), within nodules of Leydig hyperplasia between the seminiferous tubules (n = 1), or within the confines of testicular parenchyma (n = 4). Among the 4 specimens containing admixed neoplastic (teratomatous) fat, the extent of adipose tissue ranged from 3.0 to 11.0 mm (mean 6.8 mm). Among the 7 specimens with non-neoplastic adipose tissue within/near the rete, the extent ranged from 0.1 to 12.7 mm (mean 2.3 mm). Although uncommon, intratesticular fat can be found in orchiectomy specimens, which may represent a staging pitfall in GCT and SCST especially when located at the interface between the testicular parenchyma and hilum.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"1334-1340"},"PeriodicalIF":0.9,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143254285","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}