{"title":"Molecular classification of medulloblastoma using immunohistochemistry: A single centre study","authors":"Jason L. Harry , Nomusa B. Shezi , Absalom Mwazha","doi":"10.1016/j.anndiagpath.2025.152463","DOIUrl":"10.1016/j.anndiagpath.2025.152463","url":null,"abstract":"<div><div>Medulloblastoma (MB) is the second most common malignant paediatric central nervous system (CNS) tumour. The World Health Organisation (WHO) advocates an integrated pathological and molecular approach to diagnosis. Immunohistochemistry (IHC) has been proven to be a valid surrogate for molecular subtyping in low resource settings. This study aimed to use IHC to classify MB into different molecular subtypes.</div><div>Patients diagnosed with medulloblastoma between 2011 and 2021 were included in the study. Clinicopathological characteristics, treatment patterns and outcomes were reviewed. Molecular subgrouping into wingless signalling activated (WNT), sonic hedgehog (SHH), and non-WNT/non-SHH was performed by immunohistochemical staining, using β-catenin, Yes-associated protein 1 (YAP1) and GRB2-Associated Binding Protein 1 (GAB1) antibodies.</div><div>Of the 32 children evaluated, the mean age at diagnosis was 9.9 years with M: F ratio of 1.5:1. Classic (75.8 %) and desmoplastic/nodular (24.2 %) were the only two histopathological variants reported. Non-WNT/non-SHH constituted the majority of cases (54.5 %), followed by SHH (36.4 %) and WNT subgroups (9.1 %). The 5-year overall survival and 5-year progression-free survival was 41 % and 38 % respectively. The 30-day operative mortality rate was 28.1 %.</div><div>Molecular subgroups determined by immunohistochemistry, can be easily incorporated into routine practice in low resource settings. The overall survival rate in our cohort is lower than thate reported in the literature due to high post-operative mortality and low uptake of adjuvant oncotherapy.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152463"},"PeriodicalIF":1.5,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143561714","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}
Serena Salzano , Giada Maria Vecchio , Maria Failla , Andrea Russo , Teresio Avitabile , Antonio Longo , Rosario Caltabiano , Giuseppe Broggi
{"title":"Metastases from uveal melanoma may lack S100 expression: A clinico-pathologic and immunohistochemical study with emphasis on potential causes and diagnostic implications","authors":"Serena Salzano , Giada Maria Vecchio , Maria Failla , Andrea Russo , Teresio Avitabile , Antonio Longo , Rosario Caltabiano , Giuseppe Broggi","doi":"10.1016/j.anndiagpath.2025.152464","DOIUrl":"10.1016/j.anndiagpath.2025.152464","url":null,"abstract":"<div><div>Uveal melanoma (UM) is the most common primary intraocular malignancy in adults, with a high mortality rate due to metastasis, primarily to the liver. The differential diagnosis of metastatic UM, particularly in distinguishing it from cutaneous melanoma (CM), can be challenging due to overlapping histopathological features. This study investigates the immunohistochemical expression of S100 in a cohort of 41 cases, including 13 metastatic UMs, 18 metastatic CMs, and 10 primary UMs. Our results demonstrate a significant lack of S100 immunoreactivity in metastatic UM, with 84.6 % of cases showing negativity, in contrast to the diffuse positivity seen in both primary UM and metastatic CM. This finding suggests that the absence of S100 could serve as a useful marker to differentiate metastatic UM from CM, especially in cases where the primary tumor is unknown. Furthermore, the study highlights the potential diagnostic pitfall of relying solely on S100 expression on small biopsies. The absence of S100 in metastatic UM may reflect a shift in antigenic expression, possibly due to tumor dedifferentiation or clonal selection of S100-negative cells with a higher metastatic potential. Our findings emphasize the importance of employing a comprehensive immunohistochemical panel, including markers such as HMB45, SOX10, and Melan-A, in the accurate diagnosis of metastatic melanomas.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152464"},"PeriodicalIF":1.5,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143561713","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":"Pitfalls and considerations in the diagnosis of Hirschsprung's disease: A focus on pathological assessment","authors":"Farzaneh Afshari","doi":"10.1016/j.anndiagpath.2025.152465","DOIUrl":"10.1016/j.anndiagpath.2025.152465","url":null,"abstract":"<div><div>Hirschsprung's disease (HSCR) is a congenital disorder of the intestine characterized by the absence of ganglion cells (GCs) in the myenteric and submucosal plexuses of the distal colon, leading to functional obstruction. The diagnosis of HSCR relies heavily on histopathological examination, yet pitfalls abound. Underdiagnosis can lead to delayed diagnosis, the need for reoperation, or risk of complications; conversely, overdiagnosis can lead to unnecessary surgery and its associated side effects. This comprehensive pictorial review addresses common diagnostic challenges using cases from our hospital, a tertiary pediatric facility and referral center for HSCR patients, and emphasizes the need for close cooperation among pathologists, surgeons, pediatric gastroenterologists, and radiologists to achieve optimal management for patients with HSCR.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152465"},"PeriodicalIF":1.5,"publicationDate":"2025-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143561715","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}
Louise Baandrup , Susanne K. Kjær , Óli Jacobsen , Michael Bzorek , Thomas Thiilmark Eriksen , Lise Grupe Larsen , Anne-Marie Kanstrup Fiehn
{"title":"Development of a digital algorithm for assessing tumor-stroma ratio, tumor budding and tumor infiltrating lymphocytes in vulvar squamous cell carcinomas","authors":"Louise Baandrup , Susanne K. Kjær , Óli Jacobsen , Michael Bzorek , Thomas Thiilmark Eriksen , Lise Grupe Larsen , Anne-Marie Kanstrup Fiehn","doi":"10.1016/j.anndiagpath.2025.152462","DOIUrl":"10.1016/j.anndiagpath.2025.152462","url":null,"abstract":"<div><div>Tumor-stroma ratio (TSR), tumor budding (TB), and tumor-infiltrating lymphocytes (TILs) are prognostic markers in some cancers but with unknown significance in vulvar squamous cell carcinoma (VSCC). This pilot study primarily aimed to develop a digital method for evaluating TSR, TB and TILs in VSCC and secondarily to investigate variation in these factors by p16 status. An independent training set stained with CD3/cytokeratin and CD8/cytokeratin was used to develop a deep learning-based Application Protocol Package (APP) segmenting tissue into background, epithelium, or stroma. TSR was defined as percentage of tumor epithelium relative to total tumor area, and tumor buds were defined as clusters of 1–4 tumor cells. A second APP quantified CD3+ and CD8+ lymphocytes in the intraepithelial and stromal compartments, respectively. The digital algorithms were applied to the study cohort of 41 VSCC cases, achieving satisfactory performance without manual corrections. TSR ranged between 33 and 91% with median of 64%, and median number of buds was 4 (range: 0–48) buds/mm<sup>2</sup>. Median density and range of CD3+ lymphocytes were 222 (13-2320) cells/mm<sup>2</sup> in the intraepithelial and 1978 (397–6683) cells/mm<sup>2</sup> in the stromal compartment, respectively. CD8+ lymphocyte counts were lower. There was a tendency towards lower TSR and higher number of buds in p16-negative compared with p16-positive VSCC. Finally, automated measures were compared with manual evaluations showing high concordance. The developed automated method provided precise and objective measurements of TSR, TB and TILs. The algorithms should be validated in a larger cohort and correlated with clinicopathological characteristics and prognosis to determine their clinical relevance.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152462"},"PeriodicalIF":1.5,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143553007","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}
Gözde Arslan , Yasemin Yuyucu Karabulut , İrem Yeleser , Mehmet Emin Erdal , Serap Demir , Asena Ayça Özdemir
{"title":"Correlation of hsa-mirna-342–3p and SOX 6 Expression with Diabetic Nephropathy Classification, Prognostic Histomorphological Parameters and Laboratory Findings in Diabetic Nephropathy","authors":"Gözde Arslan , Yasemin Yuyucu Karabulut , İrem Yeleser , Mehmet Emin Erdal , Serap Demir , Asena Ayça Özdemir","doi":"10.1016/j.anndiagpath.2025.152461","DOIUrl":"10.1016/j.anndiagpath.2025.152461","url":null,"abstract":"<div><div>Diabetic nephropathy (DN) is one of the leading causes of end-stage renal disease. The most popular biomarkers in current research on DN are microRNAs. There are studies showing that while the expression of SOX6 increases, hsa-miR-342–3p expression decreases in kidney tissues with DN. The current study evaluated hsa-miR-342–3p expression by Real Time PCR and SOX6 expression by immunohistochemistry in a cohort of 110 DN biopsies, as well as their relationship with various clinical and histomorphological parameters. An inverse relationship between expression of hsa-miR-342–3p and SOX6 was demonstrated. SOX6 genetic expression was correlated with serum creatinine and tubular basement membrane thickening. Immunohistochemically, SOX6 staining was observed in mesangial cells and podocytes in 21 patients, with tubular staining in 45, and interstitial staining in 27 patients. Tubular staining was associated with proteinuria, interstitial fibrosis and inflammation; interstitial staining was associated with creatinine; and staining in the glomerular compartment was associated with advanced DN class. Our study is the first in the literature in which SOX6 was applied immunohistochemically in human kidney tissue, and its relation with DN classes was examined. We demonstrate its correlation with laboratory and histomorphological parameters, and provide a rational basis for future studies on larger patient groups that may result in the development of new biomarkers to predict the progression of DN and enhance its treatment.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152461"},"PeriodicalIF":1.5,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143553008","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}
Zhiyan Fu , Eundong Park , Hasan Basri Aydin , Neharika Shrestha , Liz M. Yang , Antranik Dabaghian , Hwajeong Lee
{"title":"Acellular mucin in non-neoplastic inflammatory conditions of lower gastrointestinal tract","authors":"Zhiyan Fu , Eundong Park , Hasan Basri Aydin , Neharika Shrestha , Liz M. Yang , Antranik Dabaghian , Hwajeong Lee","doi":"10.1016/j.anndiagpath.2025.152449","DOIUrl":"10.1016/j.anndiagpath.2025.152449","url":null,"abstract":"<div><h3>Purpose</h3><div>In the context of neoplasia, acellular mucin in lower gastrointestinal (GI) tract implies occult mucin-producing tumor and warrants additional workup. The clinical significance of acellular mucin in benign conditions remains unclear.</div></div><div><h3>Methods</h3><div>Lower GI tract surgical specimens with acellular mucin without documented neoplastic conditions (colonic diverticulitis (n = 16), appendicitis (n = 14), and others (n = 8)) were retrieved. Low grade appendiceal mucinous neoplasm (LAMN) (n = 24) and diverticulitis without acellular mucin (n = 28) were used as controls for appendicitis and diverticulitis cases, respectively. Clinical data, histological findings, and additional workups performed due to acellular mucin were collected.</div></div><div><h3>Results</h3><div>Patients with appendicitis with acellular mucin frequently presented with signs and symptoms of acute appendicitis (p = 0.016) compared to LAMN. 71 % were interval appendectomy, and 57 % had diverticula. In colonic diverticulitis cohort, no differences were found in terms of the duration of symptoms, age, gender and the degree of inflammation between the groups with and without acellular mucin. Seven of 8 patients with other conditions with acellular mucin had a history of abdominal surgery or fistula. Additional workup included levels (n = 7), consults (n = 11), and stains (n = 4).</div></div><div><h3>Conclusion</h3><div>Acellular mucin can be seen in a variety of benign conditions but this phenomenon is probably under-recognized and leads to additional investigations. Acellular mucin is likely translocated from the lumen through diverticulum or mural defect. Considering clinical context is crucial in providing accurate diagnosis while preserving laboratory resources.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152449"},"PeriodicalIF":1.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143403584","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}
Piero Caneve , Nina Schraps , Katharina Möller , Seyma Büyücek , Florian Lutz , Viktoria Chirico , Florian Viehweger , Viktor Reiswich , Clara von Bargen , Simon Kind , Anne Menz , Martina Kluth , Claudia Hube-Magg , Christian Bernreuther , Guido Sauter , Andreas H. Marx , Ronald Simon , Till Krech , Stefan Steurer , Christoph Fraune , Andreas M. Luebke
{"title":"Brachyury expression is highly specific for chordoma: A tissue microarray study involving 14,976 cancers from 135 different tumor types and subtypes","authors":"Piero Caneve , Nina Schraps , Katharina Möller , Seyma Büyücek , Florian Lutz , Viktoria Chirico , Florian Viehweger , Viktor Reiswich , Clara von Bargen , Simon Kind , Anne Menz , Martina Kluth , Claudia Hube-Magg , Christian Bernreuther , Guido Sauter , Andreas H. Marx , Ronald Simon , Till Krech , Stefan Steurer , Christoph Fraune , Andreas M. Luebke","doi":"10.1016/j.anndiagpath.2025.152448","DOIUrl":"10.1016/j.anndiagpath.2025.152448","url":null,"abstract":"<div><div>Brachyury protein plays a role in defining the midline of bilaterian organisms. Commonly expressed in chordomas, brachyury immunohistochemistry is used to distinguish chordomas from their differential diagnoses. However, brachyury expression has also been described to frequently occur in other cancer entities. To better comprehend the role of brachyury expression in cancer, a tissue microarray containing 14,976 samples from 135 different tumor entities and 608 samples of 76 different normal tissue types were analyzed by immunohistochemistry. Brachyury staining was found in 55 (0.44 %) of the 12,409 interpretable tumor samples, including 37 (0.3 %) with weak, 10 (0.08 %) with moderate, and 8 (0.06 %) with strong positivity. Brachyury staining strongly predominated in chordomas. Of ten chordomas, 7 were strongly and 3 moderately positive. Only 5 of the 134 analyzed further tumor categories showed brachyury staining, 4 of which originated from testicular germ cells. Brachyury positivity occurred in 21.4 % of 42 yolk sac tumors, 15.2 % of 46 embryonal carcinomas, 4.4 % of 562 seminomas, and 2.4 % of 41 teratomas of the testis. Our data support the previously suggested high specificity of brachyury for chordoma detection, and demonstrate that germ cell tumors represent the only additional group of unrelated cancer entities expressing brachyury at a significant level.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"76 ","pages":"Article 152448"},"PeriodicalIF":1.5,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143377899","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":"Salivary gland-like low-grade clear cell carcinomas of the thoracic cavity: A clinical, immunohistochemical, and molecular analysis of three cases","authors":"Annikka Weissferdt , Bruce Wenig , Cesar A. Moran","doi":"10.1016/j.anndiagpath.2025.152446","DOIUrl":"10.1016/j.anndiagpath.2025.152446","url":null,"abstract":"<div><div>Three cases of an unusual neoplasm with striking clear cell features resembling salivary gland origin of the thoracic cavity are presented. The patients were three men between the ages of 52 and 69 years (average: 60.5 years), who presented with non-specific symptoms, such as chest pain, cough, and dyspnea. Diagnostic imaging showed that two tumors were intrapulmonary neoplasms, one in right lower lobe and one in the left upper lobe, while the third tumor was located in the anterior mediastinum. Surgical resection was accomplished in all cases. Grossly, the tumors were described as light tan, soft and well-delineated. Necrosis and hemorrhage were not present. Histologically, the three tumors showed similar morphological features consisting of a neoplastic cellular proliferation arranged in small lobules and round glandular structures, some of which contained amorphous eosinophilic secretions. Individual tumor cells had abundant clear cytoplasm, round nuclei, and inconspicuous nucleoli. Cellular atypia was minimal and only scattered mitotic figures were present. Immunohistochemical studies showed that the tumor cells were positive for pancytokeratin and GATA-3, focally and weakly positive for DOG1 and TRPS1 while negative for numerous other epithelial and neuroendocrine markers. Molecular analysis showed negative results for <em>EGFR</em>, <em>ROS1</em>, or <em>ALK</em> mutation<em>, MAML2 and EWSR1</em> rearrangement and <em>ETV6::NTRK3</em> fusion, respectively. Clinical follow up showed that all patients were alive without tumor recurrence or metastasis. We believe that the histological features, immunohistochemical profile, and the results of the molecular analysis are supportive of a yet undescribed tumor entity, provisionally designated as <em>salivary gland-like low-grade clear cell carcinomas</em>.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"75 ","pages":"Article 152446"},"PeriodicalIF":1.5,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076452","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}
Arkar Htoo , Soe Htet Arker , Rose Sneha George , Lorene Chung , Anne Chen
{"title":"Utility of the manual hematology cell counter for Ki-67 assessment in gastrointestinal and pancreatobiliary well-differentiated neuroendocrine tumors","authors":"Arkar Htoo , Soe Htet Arker , Rose Sneha George , Lorene Chung , Anne Chen","doi":"10.1016/j.anndiagpath.2025.152443","DOIUrl":"10.1016/j.anndiagpath.2025.152443","url":null,"abstract":"<div><div>In the World Health Organization (WHO) 5th edition, prognosis of gastrointestinal (GI) well-differentiated neuroendocrine tumors (WDNET) depends on proliferation rate, commonly assessed by ki-67 immunohistochemical stain. In daily practice, the gold standard for WHO grade assessment by ki-67 staining, printing a photo of a tumor hotspot, counting the number of ki-67-positive cells out of 500 tumor cells, and calculating a percentage, is time-consuming and many cases are eyeballed. This study investigates the utility of a common tool, the manual cell counter used in hematology smear cell counting, for GI WDNET ki-67 counting. Of 59 resections, the number of cases with a WHO grade difference between gold standard print-and-count and the original report, eyeballing, and hematology counter method, was 23 (39 %), 14 (24 %) and 7 (12 %) cases, respectively. Of 37 biopsies, the number of cases with a WHO grade difference between gold standard print-and-count and the original report, eyeballing, and hematology counter method, was 10 (27 %), 12 (32 %) and 7 (19 %) cases, respectively. For resections, Chi square analysis comparing hematology counter method versus original report, where many cases were likely eyeballed, showed statistically significantly less cases with differing WHO grades from gold standard print-and-count for hematology counter-assessed cases (P = 0.0007), and the same Chi square analysis was marginally not significant (P = 0.09) for hematology counter versus eyeballing. Times taken to perform hematology counter method were statistically significantly lower than times taken for print-and-count. This study suggests the hematology cell counter could strike a reasonable balance between time and accuracy for WDNET resections.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"75 ","pages":"Article 152443"},"PeriodicalIF":1.5,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145236","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 diagnostic utility of SOX11 Immunohistochemical expression in malignant peripheral nerve sheath tumors and their potential mimickers","authors":"Elif Tasar Kapakli , Melike Pekmezci , Kubra Katipoglu , Figen Soylemezoglu , Gokhan Gedikoglu , Tarık Tihan , Kemal Kosemehmetoglu","doi":"10.1016/j.anndiagpath.2025.152447","DOIUrl":"10.1016/j.anndiagpath.2025.152447","url":null,"abstract":"<div><div>Malignant peripheral nerve sheath tumor (MPNST) comprises 5–10 % of all soft tissue sarcomas, and their diagnosis may be challenging given the absence of robust immunohistochemical and molecular signatures. SOX11 expression has previously been shown to be present in a small subset of MPNST. In the present study, we evaluated a group of MPNST for SOX11 expression by immunohistochemistry. We similarly assessed a group of benign and malignant spindle cell tumors that are in the differential diagnosis of MPNST, to more expansively establish the specificity of the antibody. In total, 59 MPNSTs, 27 synovial sarcomas, 19 leiomyosarcomas, 19 rhabdomyosarcomas, 19 solitary fibrous tumors, 4 clear cell sarcomas of soft tissue, 19 malignant melanomas, 22 schwannomas (11 classical, 11 cellular), 9 neurofibromas (4 plexiform, 2 atypical, and 3 classical) and 9 nodular fasciitis were included. SOX11 was strongly positive in 41 of 59 MPNSTs (67 %), 16 of 27 synovial sarcomas (59 %), 11 of 19 rhabdomyosarcomas (58 %), 1 of 4 clear cell sarcomas (25 %), and 5 of 9 nodular fasciitis (56 %). In contrast, neurofibromas(n=11)), schwannomas (n=22), leiomyosarcomas (n=22), and solitary fibrous tumors (n=19) were either negative or showed only weak and focal expression for SOX11. The sensitivity and specificity of strong SOX11 expression in differentiating MPNST from its mimickers were 70 % and 73 %, respectively. In conclusion, the diagnostic utility of SOX11 expression for MPNST is limited, but the absence of significant SOX11 expression in benign/atypical nerve sheath tumors is interesting and deserves further investigation.</div></div>","PeriodicalId":50768,"journal":{"name":"Annals of Diagnostic Pathology","volume":"75 ","pages":"Article 152447"},"PeriodicalIF":1.5,"publicationDate":"2025-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076453","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}