International Journal of Surgical Pathology最新文献

{"title":"PCSK2 can be Useful in a Panel Approach to Distinguish Foregut and Midgut Neuroendocrine Tumors.","authors":"Alexander Ladenheim, Jasper X Zheng, Abebe Teklu, Karen Matsukuma","doi":"10.1177/10668969241260208","DOIUrl":"10.1177/10668969241260208","url":null,"abstract":"<p><strong>Introduction: </strong>A number of immunohistochemical stains have been examined for utility in establishing the site of origin for metastatic well-differentiated neuroendocrine tumors (NETs). In the gastrointestinal (GI) tract, distinguishing metastatic duodenal NETs from jejunoileal and other GI NETs is important for clinical work-up, prognosis, and therapy. A recent study indicated that prohormone convertase 2 (PCSK2 or PC2) had broad expression in small intestine and appendiceal NETs. Because the study did not include duodenal NETs, we examined PCSK2 expression in duodenal and other GI NETs.</p><p><strong>Methods: </strong>GI NETs (n = 69) and 13 corresponding lymph node metastases from stomach, duodenum, pancreas, ileum, appendix, and rectum were evaluated for the expression of PCSK2, along with ISL1, NKX2.2, CDX2, SATB2, and PAX8. Expression of each stain was evaluated using the H-score system, and differences in expression by site were evaluated by the chi square test.</p><p><strong>Results: </strong>PCSK2 was expressed at similar frequency in duodenal (50%), pancreatic (59%), and ileal NETs (40%). PCSK2 was infrequently expressed in stomach (0%), appendiceal (8%), and rectal (25%) NETs. However, incorporating PCSK2 into a panel including ISL1, NKX2.2, CDX2, and SATB2 allowed development of an algorithm which had 87% sensitivity and 93% specificity for classification of ileal NETs; and 68% sensitivity and 98% specificity for pancreaticoduodenal NETs.</p><p><strong>Conclusions: </strong>In contrast to previous findings, PCSK2 does not show specificity for any particular GI site. An algorithmic approach incorporating the expression of PCSK2 with that of ISL1, NKX2.2, CDX2, and SATB2 is useful in discriminating pancreatic, duodenal, ileal, appendiceal, and rectal NETs.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"76-84"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734058","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":"The Spectrum of <i>Sarcina</i> Colonization in the Gastrointestinal Tract of Pediatric and Adolescent Patients.","authors":"Yannis Hadjiyannis, Seemaab Ali, Qian Wang, Erin C Crawford, Stefan Scholz, Paul K Waltz, Feras Alissa, Mary H Ayers, Miguel Reyes-Múgica, Claudia M Salgado","doi":"10.1177/10668969241260207","DOIUrl":"10.1177/10668969241260207","url":null,"abstract":"<p><strong>Introduction: </strong><i>Sarcina</i> organisms are rare, gram-positive, sugar-fermenting cocci, identifiable in tissues only by histologic examination or molecular testing. Since its discovery, the pathogenicity and relevance of <i>Sarcina</i> in the human gastrointestinal tract has remained ill-defined. A recent literature review of 66 reported examples demonstrated the potential for severe complications such as emphysematous gastritis and gastric perforation. In pediatrics, colonization is associated with mucosal alterations and/or gastrointestinal dysmotility/obstruction with variable outcomes, including death secondary to gastric perforation. Yet, the features of <i>Sarcina</i> colonization within the gastrointestinal tract of adolescents are poorly understood and rarely reported.</p><p><strong>Methods: </strong>We present the gastrointestinal histopathological findings and the complete history of 4 pediatric patients with <i>Sarcina</i> colonization at our institution. Additionally a literature review with focus in the keywords \"<i>Sarcina</i>\" and \"gastrointestinal' was performed, and the clinical and histopathological features of all previously reported examples of Sarcina in the gastrointestinal tract of pediatric patients were summarized.</p><p><strong>Results: </strong>All 4 patients had delayed gastric emptying, 3 of them due to neurologic disease, and one with pyloric obstruction due to duodenal ulceration with <i>Helicobacter</i> gastritis. In the 3 patients with available esophageal biopsies, it was associated to esophagitis with increased intraepithelial eosinophils.</p><p><strong>Conclusion: </strong>The potential pathogenicity of Sarcina colonization in the gastrointestinal tract of pediatric patients needs to be reevaluated. Due to potential serious complications, the identification of these organisms in the gastrointestinal tract sample should be reported and warrants further evaluation for possible gastrointestinal dysmotility or other mucosal alterations.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"65-75"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141734062","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":"Glioblastoma, IDH-Wildtype With Epithelioid Morphology and a <i>BCR::NTRK2</i> Fusion.","authors":"Gianfranco E Umeres-Francia, Javier A Arias-Stella, Saro Manoukian, Leonidas Arvanitis","doi":"10.1177/10668969241239679","DOIUrl":"10.1177/10668969241239679","url":null,"abstract":"<p><p>Glioblastoma, IDH-wildtype (GBM) is a high-grade astrocytic glioma that accounts for the majority of malignant brain tumors in adults. Within this entity, epithelioid GBM represents a histological subtype characterized by a loosely cohesive aggregate of large cells with abundant cytoplasm, and vesicular nuclei that usually harbors the <i>BRAF V600E</i> mutation. Molecular alterations in GBMs are frequent and play an important role in the diagnosis of this entity. Among the many genetic alterations reported, <i>NTRK</i> fusions are rare and account for <2% of gliomas. Furthermore, <i>NTRK2</i> fusions are most seen in pediatric populations. Recent approval of the TRK inhibitor larotrectinib by the Food and Drug Administration (FDA) has brought interest in the study and recognition of <i>NTRK</i> fusions in multiple types of tumors. Trials that assess the response to this drug in cancers carrying <i>NTRK</i> fusions have yielded favorable results. We discuss a rare presentation of an adult-type GBM with epithelioid morphology and a <i>BCR::NTRK2</i> gene fusion.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"138-144"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140335652","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":"Fumarate Hydratase-Deficient Renal Cell Carcinoma with Nucleolar Pattern of GATA3 Immunoexpression: Report of 2 Cases.","authors":"Sidhartha Chaudhry, Oleksandr Kravtsov","doi":"10.1177/10668969241253210","DOIUrl":"10.1177/10668969241253210","url":null,"abstract":"<p><p>Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare aggressive type of renal cell carcinoma. The significant morphologic overlap with other types of renal neoplasia and the limited availability of FH and 2-succinylcholine immunostains for diagnostic use outside large referral centers have created numerous diagnostic pitfalls. As FH-deficient RCC can be associated with hereditary leiomyomatosis and renal cell cancer syndrome, the importance of an accurate diagnosis goes beyond the prognosis and treatment of an individual patient. We present 2 patients with FH-deficient RCC showing a peculiar pattern of GATA3 immunoexpression restricted to tumor nucleoli. If confirmed in further larger studies, this could provide an additional diagnostic clue for considering the FH-deficient RCC diagnosis, and given the frequent papillary morphology and possible hilar location can lead to the misdiagnosis as high-grade urothelial carcinoma, and is an important diagnostic pitfall to be aware of.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"199-203"},"PeriodicalIF":0.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141065232","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":"<i>PRRX1</i>-Rearranged Mesenchymal Tumor in a Core Needle Biopsy.","authors":"Claudia Grosse, Petar Noack, Alexandra Grosse","doi":"10.1177/10668969241311492","DOIUrl":"https://doi.org/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":"10668969241311492"},"PeriodicalIF":0.9,"publicationDate":"2025-01-31","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":"Molecular Characteristics of a <i>ZFTA::RELA</i> Fusion Gliosarcoma: A Case Report.","authors":"Tzah Feldman, Eugene Vlodavsky, Shada Sarji, Asmaa Yousef Abu El Hija, Mony Benifla, Liat Oren, Myriam Ben-Arush, Yaniv Zohar","doi":"10.1177/10668969241311520","DOIUrl":"https://doi.org/10.1177/10668969241311520","url":null,"abstract":"<p><p>The combination of ependymoma and gliosarcoma elements in the same tumor is extremely rare, and the molecular characteristics of these entities are not clear. Here, we present a rare aggressive brain tumor in a 12-year-old boy harboring a <i>ZFTA::RELA</i> gene fusion, a characteristic feature of supratentorial ependymomas. On the other hand, the histopathological, molecular, and methylation profiles were compatible with a diagnosis of a mesenchymal type, IDH wild-type glioblastoma multiforme (GBM). Additional somatic alterations provide evidence of RAS/MAPK signaling pathway activation. Overall, this report highlights the histopathological and molecular characteristics of a rare and aggressive glial tumor.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969241311520"},"PeriodicalIF":0.9,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143065700","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":"Giant Cell Tumor of the Uterus: A Report and Review of the Literature.","authors":"João Martins Gama, James Trent Fry, Charles Matthew Quick","doi":"10.1177/10668969241312402","DOIUrl":"https://doi.org/10.1177/10668969241312402","url":null,"abstract":"<p><p>Giant cell tumors are neoplasms that usually occur in the long bones of young adults. They can rarely present in the soft tissue and may display malignant behavior. Giant cell malignancies have previously been reported as tumors primary of the uterus but are exceptionally rare. Although uncommon, it is important to consider when a neoplasm with osteoclast-like giant cells is encountered. In this report, we describe a 70-year-old female patient with an unremarkable past history who presented with an enlarged uterus. Transvaginal ultrasound demonstrated multiple fibroids and a thickened endometrium. A biopsy diagnosis of a highgrade sarcoma was rendered and further refined in the surgical resection as malignant giant cell tumor of the uterus. In this case report, we describe the findings of this case and discuss the differential diagnosis of this entity.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969241312402"},"PeriodicalIF":0.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052491","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":"Aberrant Cytoplasmic INSM1 Expression in Erythroid Cells: A Potential Diagnostic Pitfall Versus Neuroendocrine Neoplasms.","authors":"Douglas Jian-Xian Wu, Gregory W Charville, Ankur R Sangoi","doi":"10.1177/10668969241311524","DOIUrl":"https://doi.org/10.1177/10668969241311524","url":null,"abstract":"<p><p>Insulinoma-associated protein 1 (INSM1) is a relatively new immunostain used in the diagnostic assessment of tumors with neuroendocrine differentiation. While INSM1 positivity has been described in some non-neuroendocrine neoplasms, reactivity in red blood cells (RBCs) has only been anecdotally noted in one prior study without description of the degree/extent of staining. INSM1 staining in nucleated erythroid precursors has not been previously reported. Herein, 100 small biopsy specimens containing RBCs where INSM1 was used for diagnostic workup were reviewed. Additionally, 5 benign bone specimens and 5 adrenal myelolipoma specimens containing nucleated erythroid precursors were stained with INSM1. INSM1 staining intensity (0-3) and staining extent (0-100%) in RBC/erythroid cells was evaluated and an H-score was calculated (0-300). Positive cytoplasmic INSM1 staining in RBCs was observed in 99/100 (99%) specimens, with mean staining intensity of 2.1 (median = 2) and mean staining percent of 59% (median = 70%), with mean H-score of 125 (median = 140). Positive cytoplasmic INSM1 staining was identified in 10/10 (100%) specimens containing nucleated erythroid precursors, with mean staining intensity of 2.7 (median = 3) and mean staining percent of 53% (median = 50%), with mean H-score of 132 (median = 120). INSM1 is frequently positive in RBCs and nucleated erythroid precursors, albeit with variable staining intensity and extent. Although the INSM1 staining is cytoplasmic in RBCs (lacking nuclei) and nucleated erythroid precursors, the morphological features can mimic positive nuclear staining of neuroendocrine neoplasms. Particularly in small biopsy samples, which often contain background RBCs, positive INSM1 staining should be reviewed with caution to avoid misdiagnosis of neuroendocrine differentiation.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969241311524"},"PeriodicalIF":0.9,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143052490","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":"Primary Visceral Ewing Sarcoma (Gastric and Bladder) with KIT Expression: A Report of Two Patients and a Differential Diagnostic Approach.","authors":"Anas Chaachou-Charradi, Silvia Bagué, Carmen Medina Medina, Javier Lavernia, Reyes Claramunt, José A López Guerrero, Samuel Navarro, Antonio Llombart-Bosch, Sean R Williamson, Isidro Machado","doi":"10.1177/10668969241308205","DOIUrl":"https://doi.org/10.1177/10668969241308205","url":null,"abstract":"<p><p>Extra-skeletal Ewing sarcoma is a rare tumor, most commonly occurring in the paravertebral region, extremities, retroperitoneum, and very rarely in visceral locations. We present two primary visceral Ewing sarcomas confirmed at the molecular level: one located in the stomach and the other in the bladder. Both tumors demonstrated strong and diffuse membranous CD99 expression, accompanied by variable KIT immunoreactivity. Additionally, we provide a review of the literature on primary gastric and bladder ES, including an analysis of differential diagnoses for gastric and bladder tumors exhibiting CD99 and KIT expression.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969241308205"},"PeriodicalIF":0.9,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046747","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":"KRT20-/SATB2+/MCPyV+ Sinonasal Merkel Cell Carcinoma: A Detailed Immunohistochemical and In Situ Hybridization Study.","authors":"Gabriela Fonseca Rocha, Heitor Albergoni Silveira, Herberth Campos Silva, Fernando Chahud, Mariângela Ottoboni Brunaldi, Ana Terezinha Marques Mesquita, Jorge Esquiche León","doi":"10.1177/10668969241308228","DOIUrl":"https://doi.org/10.1177/10668969241308228","url":null,"abstract":"<p><p>Merkel cell carcinoma (MCC) is an uncommon aggressive neoplasm, usually arising in sun-exposed skin of the head and neck. By immunohistochemistry, KRT20 and MCPyV positivity are found in about 90% and 80% of MCCs, respectively. Noteworthy, viral status in lip/oral cavity MCCs is poorly known. A 78-year-old male was referred presenting a tumor mass on the right maxilla four months ago. Computed tomography revealed an extensive osteolytic lesion in the right maxillary sinus extending into the orbit and nasal cavity and crossing the midline. Microscopy revealed large necrotic areas admixed by sheets of small, round cells with hyperchromatic nuclei exhibiting a '\"salt and pepper\" chromatin pattern, which showed immunopositivity for pan-KRT AE1/AE3, EMA, CD56, CD99 (weak), CD138, S100 (focal), vimentin (focal), synaptophysin, FLI1, INSM1, MCPyV, SATB2, and Ki-67 (MKI67 [40%]). Moreover, intact RB1 and wild-type p53 expression were observed. Relevantly, KRT20, KRT5/6, chromogranin A, p40, p63, HMB45, NF, TTF1, TDT (DNTT), PAX5, p16, KIT, as well as high-risk HPV and EBER1/2 (both by ISH), were negative. This report illustrates that a detailed immunohistochemical study, including STAB2 and MCPyV markers, as well as a careful clinical workup, are essential to adequately classify high-grade neuroendocrine carcinomas, especially KRT20-negative MCC.</p>","PeriodicalId":14416,"journal":{"name":"International Journal of Surgical Pathology","volume":" ","pages":"10668969241308228"},"PeriodicalIF":0.9,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005276","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}