Head & Neck Pathology最新文献

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Malignant Salivary Gland Neoplasm of the Tongue Base with EWSR1::BEND2 Fusion: An Unusual Case with Literature Review. 舌根部恶性唾液腺肿瘤伴 EWSR1::BEND2 融合:罕见病例及文献综述。
IF 3.2
Head & Neck Pathology Pub Date : 2024-11-04 DOI: 10.1007/s12105-024-01726-2
Yuan-Dong Zhang, Jiang-Jie Sun, Shao-Yan Xi, Zhi-Min Jiang, De-Rong Xie, Qiong Yang, Xu-Chao Zhang
{"title":"Malignant Salivary Gland Neoplasm of the Tongue Base with EWSR1::BEND2 Fusion: An Unusual Case with Literature Review.","authors":"Yuan-Dong Zhang, Jiang-Jie Sun, Shao-Yan Xi, Zhi-Min Jiang, De-Rong Xie, Qiong Yang, Xu-Chao Zhang","doi":"10.1007/s12105-024-01726-2","DOIUrl":"10.1007/s12105-024-01726-2","url":null,"abstract":"<p><strong>Purpose: </strong>Salivary gland malignancies may have overlapping architectural patterns, tumor morphology, and immunohistochemical phenotypes, presenting challenges in precise classification. Molecular phenotyping has become quite useful for providing an additional diagnostic modality, and potential drug targets. Here we reported a young female patient with salivary gland tumor of the tongue base harboring genetic alterations by next generation sequencing (NGS).</p><p><strong>Methods: </strong>The morphological, immunohistochemical and molecular features of this case were described, and related literature was reviewed.</p><p><strong>Results: </strong>The tumor showed an epithelial myoepithelial architecture arranged in cords and tubules interwoven with a chondromyxoid stroma, along with perineural invasion and adjacent striated muscle infiltration. Myoepithelial cells were positive for CK5/6, partially positive for P63 and CK7, and sporadically positive for S100. Immunoprofiling revealed a low density of infiltrating lymphocytes and macrophages and the absence of programmed death ligand 1 (PD-L1). Notably, RNA-based NGS showed EWSR1::BEND2 gene fusion in this tumor, and EWSR1 break-apart was confirmed by fluorescence in situ hybridization. This led to a final diagnosis of a minor salivary gland malignancy with EWSR1::BEND2 fusion. Only two other cases of salivary gland tumors with EWSR1::BEND2 fusion had been previously reported, which were also detected via RNA-based NGS.</p><p><strong>Conclusion: </strong>This study emphasized that EWSR1::BEND2 fusion may drive the carcinogenesis in salivary glands neoplasia. In clinic RNA-based NGS could be essential for precise genotyping of EWSR1 fusion in this rare disease.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11535138/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142568574","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Squamous Cell Carcinoma with Prominent Eosinophils. 鳞状细胞癌伴有明显的嗜酸性粒细胞。
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-28 DOI: 10.1007/s12105-024-01718-2
Thomas N Helm, Sanica Bhele, Julie C Fanburg-Smith
{"title":"Squamous Cell Carcinoma with Prominent Eosinophils.","authors":"Thomas N Helm, Sanica Bhele, Julie C Fanburg-Smith","doi":"10.1007/s12105-024-01718-2","DOIUrl":"10.1007/s12105-024-01718-2","url":null,"abstract":"<p><p>Eosinophils are often encountered in the stroma and peritumoral microenvironment of squamous cell carcinomas. Because eosinophils are readily identified on routine hematoxylin and eosin stained sections, researchers have explored multiple ways in which identifying the extent of eosinophil infiltration on routine biopsy and excisional specimens might provide diagnostic and prognostic information. We review the literature on this evolving topic.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Deep Convolutional Neural Network for Accurate Classification of Myofibroblastic Lesions on Patch-Based Images. 基于斑块图像的深度卷积神经网络对肌成纤维细胞病变的准确分类
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-28 DOI: 10.1007/s12105-024-01723-5
Daniela Giraldo-Roldán, Giovanna Calabrese Dos Santos, Anna Luíza Damaceno Araújo, Thaís Cerqueira Reis Nakamura, Katya Pulido-Díaz, Marcio Ajudarte Lopes, Alan Roger Santos-Silva, Luiz Paulo Kowalski, Matheus Cardoso Moraes, Pablo Agustin Vargas
{"title":"Deep Convolutional Neural Network for Accurate Classification of Myofibroblastic Lesions on Patch-Based Images.","authors":"Daniela Giraldo-Roldán, Giovanna Calabrese Dos Santos, Anna Luíza Damaceno Araújo, Thaís Cerqueira Reis Nakamura, Katya Pulido-Díaz, Marcio Ajudarte Lopes, Alan Roger Santos-Silva, Luiz Paulo Kowalski, Matheus Cardoso Moraes, Pablo Agustin Vargas","doi":"10.1007/s12105-024-01723-5","DOIUrl":"10.1007/s12105-024-01723-5","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to implement and evaluate a Deep Convolutional Neural Network for classifying myofibroblastic lesions into benign and malignant categories based on patch-based images.</p><p><strong>Methods: </strong>A Residual Neural Network (ResNet50) model, pre-trained with weights from ImageNet, was fine-tuned to classify a cohort of 20 patients (11 benign and 9 malignant cases). Following annotation of tumor regions, the whole-slide images (WSIs) were fragmented into smaller patches (224 × 224 pixels). These patches were non-randomly divided into training (308,843 patches), validation (43,268 patches), and test (42,061 patches) subsets, maintaining a 78:11:11 ratio. The CNN training was caried out for 75 epochs utilizing a batch size of 4, the Adam optimizer, and a learning rate of 0.00001.</p><p><strong>Results: </strong>ResNet50 achieved an accuracy of 98.97%, precision of 99.91%, sensitivity of 97.98%, specificity of 99.91%, F1 score of 98.94%, and AUC of 0.99.</p><p><strong>Conclusions: </strong>The ResNet50 model developed exhibited high accuracy during training and robust generalization capabilities in unseen data, indicating nearly flawless performance in distinguishing between benign and malignant myofibroblastic tumors, despite the small sample size. The excellent performance of the AI model in separating such histologically similar classes could be attributed to its ability to identify hidden discriminative features, as well as to use a wide range of features and benefit from proper data preprocessing.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
NanoString nCounter-Based Assay for Detection of Fusion-Associated Salivary Gland Tumors. 基于 NanoString nCounter 的融合相关唾液腺肿瘤检测试剂盒。
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-28 DOI: 10.1007/s12105-024-01710-w
Angela Goytain, Tony L Ng
{"title":"NanoString nCounter-Based Assay for Detection of Fusion-Associated Salivary Gland Tumors.","authors":"Angela Goytain, Tony L Ng","doi":"10.1007/s12105-024-01710-w","DOIUrl":"10.1007/s12105-024-01710-w","url":null,"abstract":"<p><strong>Purpose: </strong>Salivary gland tumors include numerous subtypes that vary from benign to highly aggressive, with many showing overlapping histopathological features that can make diagnosis challenging. Most subtypes express driver fusion genes that are tumor specific, and detection of such fusions is useful for differentiating amongst specific diagnoses, determining appropriate tumor grading, and guiding effective treatment. Currently, fusions can be detected by FISH, RT-PCR or through next-generation sequencing approaches, all of which are highly effective methodologies but can be costly or time consuming.</p><p><strong>Methods: </strong>We developed a rapid NanoString nCounter platform-based assay to detect salivary gland tumor fusions using a combination of fusion junction-specific probes and an approach through differential exon expression analysis. The assay includes 68 junction-specific probes and analysis of exon expression across 9 fusion-associated genes in a single multiplex assay.</p><p><strong>Results: </strong>Out of 55 retrospective and 171 prospective cases assayed, we accurately detected the majority of cases of pleomorphic adenoma, adenoid cystic carcinoma, cribriform adenocarcinoma, clear cell carcinoma, secretory carcinoma and NUT-rearranged carcinoma, including cases of these tumor types arising in non-salivary gland sites, with the major drawback being an inability to detect MAML2-containing mucoepidermoid samples. With mucoepidermoid carcinoma excluded, the assay shows an overall sensitivity of 96.1% and specificity of 100%.</p><p><strong>Conclusion: </strong>We show that the majority of salivary gland tumor fusions can be effectively detected with a single rapid NanoString based assay, which can serve as a useful adjunctive tool for routine diagnostic head and neck pathology. The assay is low cost with a rapid turnaround time (30 h total assay time per sample batch, with minimal technician input required) compared to alternate detection methods.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Comparative Analysis of MYB Expression by Immunohistochemistry and RNA Sequencing in Clinical Gene Fusion Detection in Adenoid Cystic Carcinoma. 腺样囊性癌临床基因融合检测中免疫组织化学与 RNA 测序对 MYB 表达的比较分析
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-26 DOI: 10.1007/s12105-024-01719-1
Adam S Fisch, Alexander A Farahani, Julia Thierauf, A John Iafrate, Jochen K Lennerz, William C Faquin
{"title":"Comparative Analysis of MYB Expression by Immunohistochemistry and RNA Sequencing in Clinical Gene Fusion Detection in Adenoid Cystic Carcinoma.","authors":"Adam S Fisch, Alexander A Farahani, Julia Thierauf, A John Iafrate, Jochen K Lennerz, William C Faquin","doi":"10.1007/s12105-024-01719-1","DOIUrl":"10.1007/s12105-024-01719-1","url":null,"abstract":"<p><strong>Purpose: </strong>MYB has been shown to play a central role in oncogenesis in a majority of adenoid cystic carcinomas (ACC). Testing for MYB expression via immunohistochemistry (IHC) or testing for the MYB gene fusion by next-generation sequencing (NGS) have become useful tools for the diagnosis of ACC. In addition, detection of MYB expression may have implications for patient management.</p><p><strong>Methods: </strong>A cohort of 35 ACC cases was identified from the archival pathology files of the Massachusetts General Hospital. Cases were tested for MYB expression using a panel of 4 different commercially available MYB antibodies and scored using a modified Allred system. RNA-based NGS for MYB gene fusion detection was also performed.</p><p><strong>Results: </strong>Among 4 different MYB antibodies, the sensitivity for MYB detection ranged from 26 to 97%. When a 30% threshold for determination of MYB immunohistochemical positivity was used, the AB_10900735 IHC clone showed the maximum sensitivity (97%). RNA sequencing revealed 19 (54%) cases positive for MYB fusions, and expression analysis derived from the sequencing data confirmed a significant association between MYB expression and fusion status (p = 0.036). Although less sensitive, the AB_778878 MYB clone showed a significant positive association between IHC staining and MYB RNA expression (R<sup>2</sup> = 0.15, p = 0.023).</p><p><strong>Conclusion: </strong>The detection of MYB expression using immunohistochemistry varies significantly depending on the antibody used. Comparison with MYB fusion and transcription levels, as determined by NGS, reveals that MYB has a complex relationship between genetic alterations, transcript levels, and protein abundance.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510441","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Squamous Cell Carcinoma Arising in a Squamous Odontogenic Tumor of the Maxilla: Case Report and Review of the Literature. 上颌骨鳞状牙本质瘤中出现的鳞状细胞癌:病例报告和文献综述。
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-24 DOI: 10.1007/s12105-024-01692-9
Fawaz Alotaibi, Yousef Alshamrani, Harish Tummala, Abdulrahman Hesham, Leticia Ferreira Cabido, Mehrnaz Tahmasbi, John M Wright
{"title":"Squamous Cell Carcinoma Arising in a Squamous Odontogenic Tumor of the Maxilla: Case Report and Review of the Literature.","authors":"Fawaz Alotaibi, Yousef Alshamrani, Harish Tummala, Abdulrahman Hesham, Leticia Ferreira Cabido, Mehrnaz Tahmasbi, John M Wright","doi":"10.1007/s12105-024-01692-9","DOIUrl":"10.1007/s12105-024-01692-9","url":null,"abstract":"<p><p>Squamous odontogenic tumor (SOT) is an exceedingly rare, benign epithelial odontogenic tumor showing squamous differentiation. It is composed of variably sized and shaped islands of cytologically bland, mature squamous epithelium within a fibrous stroma. In this report, we present a rare transformation of a squamous odontogenic tumor (SOT) of the maxilla into a well-differentiated squamous cell carcinoma (SCC) with involvement of the pterygoid plates. To the best of our knowledge, only two cases of malignant transformation of SOT has been reported in the literature. Herein, we seek to report this extremely rare occurrence to raise awareness of oral and maxillofacial surgeons and pathologists of this unusual, but serious event and perform a literature review of squamous odontogenic tumors.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11502723/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Do not Judge a book by its Cover: A Secretory Carcinoma Arising from a Salivary Gland Heterotopia in Laterocervical lymph-node. 不要以貌取人:后颈淋巴结唾液腺异位的分泌性癌。
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-22 DOI: 10.1007/s12105-024-01708-4
Giulia Querzoli, Carlotta Liberale, Vicenzo Maiolo, Daria Maria Filippini, Elisabetta Nobili, Giambattista Siepe, Annalisa Altimari, Gabriele Molteni, Maria Pia Foschini
{"title":"Do not Judge a book by its Cover: A Secretory Carcinoma Arising from a Salivary Gland Heterotopia in Laterocervical lymph-node.","authors":"Giulia Querzoli, Carlotta Liberale, Vicenzo Maiolo, Daria Maria Filippini, Elisabetta Nobili, Giambattista Siepe, Annalisa Altimari, Gabriele Molteni, Maria Pia Foschini","doi":"10.1007/s12105-024-01708-4","DOIUrl":"10.1007/s12105-024-01708-4","url":null,"abstract":"<p><p>Heterotopia, the occurrence of specific tissues in ectopic sites during embryogenesis, includes the presence of salivary gland tissue in unusual locations. Salivary gland neoplasms arising from heterotopic sites are rare. Secretory Carcinoma (SC) is a rare salivary gland carcinoma characterized by ETV6-NTRK3 fusion gene, very rarely described in salivary gland heterotopia. Here a case of SC originating from salivary gland heterotopia in a neck lymph node is reported, together with a literature review.A 66-year-old male presented with a left neck mass. Imaging and fine needle aspiration cytology indicated a preliminary diagnosis of a benign/low-grade malignancy neoplasm.Following surgery (superficial parotidectomy and mass excision), histological examination revealed SC within an intranodal salivary heterotopia, confirmed by molecular analysis.Heterotopic salivary gland tissue (HSGT) is rare, and its association with neoplasms is even rarer. Tumours arising on HSGT, share histological similarities with those affecting orthotopic salivary glands. This unique case expands the understanding of SC occurrences on HSGT.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142485872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Segmental Odontomaxillary Dysplasia: Systematic Review. 节段性牙颌发育不良:系统综述。
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-22 DOI: 10.1007/s12105-024-01717-3
Alessandra Acioli Landim, Mariela Peralta-Mamani, Guilherme Acioli Landim, Ademir Franco, José Luiz Cintra Junqueira, Mariana Quirino Silveira Soares
{"title":"Segmental Odontomaxillary Dysplasia: Systematic Review.","authors":"Alessandra Acioli Landim, Mariela Peralta-Mamani, Guilherme Acioli Landim, Ademir Franco, José Luiz Cintra Junqueira, Mariana Quirino Silveira Soares","doi":"10.1007/s12105-024-01717-3","DOIUrl":"10.1007/s12105-024-01717-3","url":null,"abstract":"<p><strong>Purpose: </strong>This PRISMA-guided and PROSPERO-registered systematic review aimed to summarise the current knowledge on the characteristics (clinical, radiographic, and histopathological) and treatment options for segmental odontomaxillary dysplasia (SOD).</p><p><strong>Methods: </strong>Descriptive studies, case series, and case reports were searched up to May 2024 in PubMed, Embase, Web of Science, SciELO, and the Cochrane Library databases. Statistical association analyses were performed on clinical variables, using chi-square tests.</p><p><strong>Results: </strong>The 35 included studies detailed 60 SOD cases in patients with a mean age of 12 ± 9.6 years. 11. Males were more frequently affected than females (62% or 1.6:1 ratio). Most cases involved the right maxilla (55%) and presented facial asymmetry and/or unilateral swelling (78%). Three cases involved both maxillae and mandible; Skin alterations were reported in 50% of the cases. Intraoral alterations such as alveolar process enlargement and gingival hyperplasia were also frequently observed (84% and 58%, respectively). All patients presented tooth alterations and 1st and/or 2nd upper premolars were absent in 80% of the cases. Dense bone and altered trabecular patterns were frequently observed in radiographs. Histopathological exams commonly showed dense trabecular bone and hyperplasic gingival tissue. Only 33 cases reported the SOD treatment, which ranged from follow-up without intervention up to surgery and orthodontics. No significant associations were found between sex and facial asymmetry or continuous lesion growth (p > 0.05). Additionally, no associations were found between intraoral alterations or symptoms and continuous lesion growth (p > 0.05).</p><p><strong>Conclusion: </strong>This review presents SOD epidemiological, clinical, radiographic and histopathological data. Evidence regarding treatment is scarce.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Uncommon and Challenging Phenotypes of High-Risk Human Papillomavirus-Associated Head and Neck Carcinomas Revealed by High-Throughput Studies. 高通量研究揭示的高危人类乳头瘤病毒相关头颈癌的不常见和挑战性表型。
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-22 DOI: 10.1007/s12105-024-01707-5
Alex P Tannenbaum, Taja Lozar, Changxue Lu, Megan Schumacher, Athena Golfinos, Huy Q Dinh, Natalie Taylor, Randall J Kimple, David Yang, Paul M Harari, Paul F Lambert, Ricardo V Lloyd, Rong Hu
{"title":"Uncommon and Challenging Phenotypes of High-Risk Human Papillomavirus-Associated Head and Neck Carcinomas Revealed by High-Throughput Studies.","authors":"Alex P Tannenbaum, Taja Lozar, Changxue Lu, Megan Schumacher, Athena Golfinos, Huy Q Dinh, Natalie Taylor, Randall J Kimple, David Yang, Paul M Harari, Paul F Lambert, Ricardo V Lloyd, Rong Hu","doi":"10.1007/s12105-024-01707-5","DOIUrl":"10.1007/s12105-024-01707-5","url":null,"abstract":"<p><strong>Background: </strong>HPV- associated squamous cell carcinoma (SCC) is uncommon in non-oropharynx sites and not well characterized. This study aims to investigate uncommon phenotypes of HPV-associated head and neck carcinoma, the prevalence and morphologic spectrum of HPV-associated SCC in the oral cavity, larynx and hypopharynx.</p><p><strong>Method: </strong>P16 immunostaining and HPV E6/7 in situ hybridization (ISH) were performed on tissue microarrays comprised of SCCs from different anatomic sites: oropharynx (n = 270), hypopharynx (n = 52), oral cavity (n = 95) and larynx (n = 123). Tumors were classified as HPV-associated based on a positive E6/7 ISH testing. RNA sequencing was performed on several selected cases.</p><p><strong>Result: </strong>66% oropharynx SCCs (OPSCCs) were HPV-associated; all were p16/HPV testing concordant except one which was p16 negative. The p16-/HPV + OPSCC resembled similar gene expression signature with p16+/HPV + OPSCCs by transcriptome analysis. 6/95 (6%) oral cavity SCCs were HPV-associated, all from male patients and 5/6 (83%) arose from the floor of mouth. Morphologically, 3/6 (50%) showed keratinizing SCC and 5/6 (83%) demonstrated HPV-associated squamous dysplasia in adjacent mucosa. 1/123 (less than 1%) larynx SCCs and 0/52 hypopharynx SCCs were HPV-associated.</p><p><strong>Conclusion: </strong>Although uncommon, p16 negative HPV-associated OPSCC can occur, emphasizing the importance of judicious HPV testing. The morphology of HPV-associated oral cavity SCCs may deviate from prototypic nonkeratinizing SCC, making them difficult to recognize. Presence of HPV-associated squamous dysplasia could serve as a morphologic clue.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Papillary Thyroid Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma: Case Report of a Rare Subtype with Cytological and Molecular Study. 甲状腺乳头状癌伴有纤维瘤病/筋膜炎样/类脂质基质:一种罕见亚型的病例报告及细胞学和分子学研究
IF 3.2
Head & Neck Pathology Pub Date : 2024-10-22 DOI: 10.1007/s12105-024-01720-8
Hosamadean Benghashir, Mahir Petkar, Rajen Goyal
{"title":"Papillary Thyroid Carcinoma with Fibromatosis/Fasciitis-Like/Desmoid-Type Stroma: Case Report of a Rare Subtype with Cytological and Molecular Study.","authors":"Hosamadean Benghashir, Mahir Petkar, Rajen Goyal","doi":"10.1007/s12105-024-01720-8","DOIUrl":"10.1007/s12105-024-01720-8","url":null,"abstract":"<p><strong>Background: </strong>Papillary thyroid carcinoma (PTC) with fibromatosis/fasciitis-like/desmoid-type stroma is a rare subtype of PTC,characterized by two distinct components: a classic papillary carcinoma component and a spindle cell proliferationresembling fibromatosis or nodular fasciitis. This stromal component adds a unique dimension to the tumor'spathology, making diagnosis more challenging and potentially leading to misclassification.</p><p><strong>Case presentation: </strong>We present a case of this rare entity which contributes to the growing body of literature by providing additionalmolecular data, which may shed light on the biological behaviour of the fibromatosis-like stroma and its relationshipwith the papillary carcinoma component. This case underscores the importance of recognizing this subtype, as itsspindle cell proliferation could be mistaken for a separate neoplasm or reactive process, resulting in inappropriatemanagement.</p><p><strong>Conclusions: </strong>Increased awareness of this entity will help pathologists avoid diagnostic pitfalls and guide clinicians in developingmore precise treatment plans, addressing both the malignant papillary component and the unique stromal features.This case further enriches the current understanding of the heterogeneity of PTC and highlights the need fortailored management strategies in rare subtypes.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142477759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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