Head and neck pathology最新文献

{"title":"Sinonasal Tract Osteochondromyxoma: An Underrecognized Tumor Easily Mistaken for Nasal Chondromesenchymal Hamartoma.","authors":"Justin A Bishop, Ali Alani, Igor Lima Fernandes, Carlos E Bacchi, Daniel F Klink, Carrie B Marshall, Daniel Baumhoer, Andrew L Folpe","doi":"10.1007/s12105-025-01851-6","DOIUrl":"10.1007/s12105-025-01851-6","url":null,"abstract":"<p><strong>Introduction: </strong>Matrix-producing tumors of the sinonasal region are diagnostically challenging, with a large number of similar-appearing neoplasms having different prognoses, treatment strategies, and genetic syndrome associations. Osteochondromyxoma (OCM) is a very rare tumor known to be associated with Carney complex. Since its initial description in 2001, fewer than 20 cases have been reported, with the sinonasal tract being an apparently favored site. Herein we describe 6 new cases of sinonasal OCM.</p><p><strong>Methods: </strong>OCM cases with available slides were retrieved from the surgical pathology files of the authors' practices.</p><p><strong>Results: </strong>The tumors arose in 4 boys and 2 girls, ranging from 4 to 17 years (mean, 9.5 years). All presented with nasal obstruction and a mass. Radiologically the tumors presented as indolent-appearing, heterogeneous, calcified, expansile masses. Histologically the tumors all consisted of bland, normochromatic spindled to stellate cells in a myxoid to collagenized stroma, with variable amounts of cartilage and bone formation. Mitotic activity was very low and necrosis was absent. All demonstrated complete loss of PRKAR1A expression by immunohistochemistry. Of these 6 cases, 3 had been originally diagnosed as nasal chondromesenchymal hamartomas, and one as osteosarcoma. Treatment and follow up information were available for 5 patients: all were treated with surgery, with one also receiving chemotherapy after an initial osteosarcoma diagnosis. At the time of last clinical follow-up, all 5 patients were alive, one with residual disease. No patient was known to have other stigmata of Carney complex.</p><p><strong>Conclusions: </strong>Although rare, OCM preferentially occurs in the sinonasal tract, and therefore may be encountered by head and neck pathologists. Given their predilection for young patients and overlapping morphologic features, OCM are easily misdiagnosed as other matrix-forming sinonasal tumors, especially nasal chondromesenchymal hamartoma. Immunohistochemical demonstration of PRKAR1A loss is valuable for confirming an OCM diagnosis, which should prompt clinical investigation for the possibility of Carney complex.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"117"},"PeriodicalIF":4.1,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12515183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145277077","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}

{"title":"Clear Cell Squamous Cell Carcinoma of Maxillary Alveolus-A Case Report with Diagnostic Pitfalls.","authors":"Mahija Janardhanan, Rakesh Suresh, Vindhya Savithri, Thara Aravind, Lisha Mathew, V Ravi","doi":"10.1007/s12105-025-01849-0","DOIUrl":"10.1007/s12105-025-01849-0","url":null,"abstract":"<p><strong>Background: </strong>Clear cell neoplasms are a heterogeneous group of benign and malignant tumours characterized by the presence of clear cells on histological examination. Although uncommon in the head and neck, a wide range of intraoral tumours of varied cellular origins may exhibit clear cell changes. While distinctive histomorphological features often allow accurate diagnosis, extensive clear cell alterations with overlapping patterns can pose significant diagnostic challenges. This paper highlights such challenges and the systematic approach undertaken to establish the final diagnosis.</p><p><strong>Methods: </strong>We report a rare case of the clear cell variant of oral squamous cell carcinoma (CCSCC) involving the maxillary alveolus in a 58-year-old female. Clinically and histologically, the lesion mimicked odontogenic tumours, salivary gland neoplasms, melanoma, and metastatic lesions of the jaws. Detailed histomorphological assessment, supported by special stains and immunohistochemistry, was performed to reach a definitive diagnosis.</p><p><strong>Results: </strong>Histopathology revealed epithelial islands of clear cells with features overlapping those of salivary gland and odontogenic tumours, as well as melanoma. Special stains excluded mucoepidermoid carcinoma, calcifying epithelial odontogenic tumour, and metastatic renal cell carcinoma. Immunohistochemistry demonstrated positivity for CK19, EMA and pan-Cytokeratin, with negativity for HMB-45, S100, P63, calretinin & CK10. Examination of deeper sections showed severe epithelial dysplasia with stromal invasion, confirming the diagnosis of CCSCC.</p><p><strong>Conclusion: </strong>CCSCC of the oral cavity is an exceptionally rare and diagnostically challenging entity. Accurate diagnosis requires correlation of clinical, imaging, histopathology, and immunohistochemistry. Early recognition is essential, given its aggressive clinical behaviour.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"116"},"PeriodicalIF":4.1,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12501082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145234766","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}

{"title":"High-Risk HPV Testing in Head and Neck Carcinoma: Key Updates from the 2025 College of American Pathologists Guideline.","authors":"William C Faquin, James S Lewis, Beth Beadle, Justin A Bishop, Rebecca D Chernock, Jeffrey F Krane, Joel T Moncur, James W Rocco, Mary R Schwartz, Raja R Seethala","doi":"10.1007/s12105-025-01847-2","DOIUrl":"10.1007/s12105-025-01847-2","url":null,"abstract":"<p><p>High-risk human papillomavirus (HPV) plays a significant role in the pathogenesis of certain head and neck (HN) cancers, especially squamous cell carcinomas (SCC) arising in the oropharynx. Distinction between HPV-independent and HPV-associated HNSCC has important implications for clinical management and patient prognosis in specific anatomic subsites of the head and neck. In 2018, the College of American Pathologists (CAP) issued 14 evidence-based guideline statements related to the testing, application, interpretation, and reporting of HPV and surrogate marker testing for HN carcinomas. Since that time, significant amounts of new data have been published which serves as the foundation for the updated 2025 CAP Guideline resulting in 16 evidence-based recommendations. These statements refine issues related to the application of high-risk HPV testing in patients with HNSCC, and they address some issues not fully covered in the 2018 CAP Guideline. This brief review discusses the changes that were made to the original guideline and provides a quick reference for the testing recommendations across head and neck sites.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"115"},"PeriodicalIF":4.1,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12480157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145188325","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}

{"title":"High-Risk HPV-Positive Sinonasal Adenocarcinoma: A Case Report and Review of Literature.","authors":"Claire A Krasinski, Anuj Verma, Sanhong Yu, Alexander Ladenheim","doi":"10.1007/s12105-025-01845-4","DOIUrl":"10.1007/s12105-025-01845-4","url":null,"abstract":"<p><p>High risk human papillomavirus (HR-HPV) has been a well-documented etiology of oropharyngeal malignancy. Recently, the sinonasal tract has been recognized as a second \"hot spot\" in the head and neck region for HPV associated tumors. Most HR-HPV associated tumors in the sinonasal tract are squamous cell carcinomas. High-grade non-intestinal type sinonasal adenocarcinoma (NITAC) is a rare malignant neoplasm that, to our knowledge, has been convincingly reported just once previously in association with HR-HPV. We report a new case of high grade NITAC associated with HR-HPV in a 64-year-old male patient, along with a literature review emphasizing differential diagnoses and potential clinical implications.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"114"},"PeriodicalIF":4.1,"publicationDate":"2025-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12454247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145126913","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}

{"title":"Epithelioid Osteoblastoma: Clinicopathologic Features of a Classic Case with Aggressive Behavior.","authors":"Jamerson Carvalho Silva, Dandara Andrade de Santana, Isabela Teixeira Fernandes, Alessandra Monteiro Santana, Walter Suruagy Motta Padilha, Flávia Caló de Aquino Xavier, Jean Nunes Dos Santos","doi":"10.1007/s12105-025-01848-1","DOIUrl":"10.1007/s12105-025-01848-1","url":null,"abstract":"<p><strong>Introduction: </strong>Epithelioid osteoblastoma is a rare variant of osteoblastoma, characterized by large osteoblasts with epithelioid morphology. Although benign, it can be locally aggressive, frequently affecting the spine and long bones, with up to 26% of cases in the craniofacial region, especially the mandible.</p><p><strong>Case presentation: </strong>We present a case of a 12-year-old male with a mandibular epithelioid osteoblastoma causing cortical expansion and tooth displacement. CT revealed a 4.7 cm mass with calcifications and periosteal reaction. Histology showed epithelioid osteoblast proliferation within a highly vascular stroma, scattered osteoclasts, and hemorrhagic areas, with a low Ki-67 index (< 5%) and no atypical mitoses or infiltrative growth.</p><p><strong>Differential diagnosis: </strong>Osteoid osteoma, cementoblastoma, fibro-osseous lesions, and osteosarcoma were considered. Osteosarcoma was excluded due to the absence of nuclear pleomorphism, atypical mitoses, and infiltrative growth. Clinical, radiographic, and histologic features, along with FOS/FOSB rearrangements and c-fos immunohistochemistry, aided accurate diagnosis.</p><p><strong>Management and outcome: </strong>The patient underwent marginal resection with clear margins. Follow-up for 10 months showed no recurrence.</p><p><strong>Conclusion: </strong>Epithelioid osteoblastoma reflects a histologic phenotype rather than clinical aggressiveness. Complete excision is recommended to prevent recurrence, while preoperative biopsy and careful differential diagnosis are crucial for distinguishing it from mimics, particularly osteosarcoma.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"113"},"PeriodicalIF":4.1,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12450157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145093413","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}

{"title":"Letter: Spatial Transcriptome Analysis of B7-H4 in Head and Neck Squamous Cell Carcinoma: A Novel Therapeutic Target for Anti-Immune Checkpoint Inhibitors.","authors":"Leela Kumaran, Renuka Sharma","doi":"10.1007/s12105-025-01846-3","DOIUrl":"10.1007/s12105-025-01846-3","url":null,"abstract":"","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"112"},"PeriodicalIF":4.1,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12450127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145093418","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}

{"title":"Novel BMPR1B::AFF2 in a Sinonasal Region Non-Keratinizing Squamous Cell Carcinoma.","authors":"Tyler R Selkin, Varsha Manucha, Jing Xu, Doreen Palsgrove, Julia A Bridge, Justin A Bishop","doi":"10.1007/s12105-025-01843-6","DOIUrl":"10.1007/s12105-025-01843-6","url":null,"abstract":"<p><strong>Introduction: </strong>Molecular diagnostic tools may help resolve difficult differential diagnoses, and in some cases, they uncover entirely novel findings.</p><p><strong>Methods: </strong>We performed immunohistochemistry and molecular analysis on a cytologically bland squamous tumor of the sinonasal region.</p><p><strong>Results: </strong>We found a previously unreported BMPR1B::AFF2 fusion in a difficult-to-characterize nasal and nasopharyngeal tumor exhibiting aggressive local behavior and recurrence.</p><p><strong>Conclusion: </strong>While the DEK::AFF2 fusion is well-characterized in sinonasal region tumors, alternate fusion partners are becoming increasingly recognized.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"111"},"PeriodicalIF":4.1,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12433389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145056601","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}

{"title":"Pleomorphic Adenoma with Epithelial Atypia, Apocrine Metaplasia, and/or In situ/Intracapsular Salivary Duct Carcinoma Are Indolent Lesions with Good Prognosis: A Proposal for Unified Nomenclature and Clinical Observation.","authors":"Grayson G Cole, Cole, Matt Levin, David Ferber, Spencer C Roark, Peter M Sadow, Daniel Lubin, Julie Guilmette, Jason R Pettus, Adam S Fisch, Dipti P Sajed, Fouad R Zakka, Mark W Lingen, Nicole A Cipriani","doi":"10.1007/s12105-025-01841-8","DOIUrl":"10.1007/s12105-025-01841-8","url":null,"abstract":"<p><strong>Purpose: </strong>Salivary duct carcinoma (SDC) is the most common malignancy to arise in a pleomorphic adenoma (PA). Intracapsular or non-invasive carcinoma ex PA (CXPA) is defined by the presence of malignant-appearing tumor cells within the PA that do not violate the tumor border. Knowledge regarding the possible morphologic spectrum and prognosis of intratumoral CXPA is scarce. This study aims to evaluate the morphologic, immunohistochemical, and clinical features of PAs with apocrine / salivary-duct-like intratumoral atypia.</p><p><strong>Methods: </strong>Surgical pathology databases were queried for in situ or intracapsular/intratumoral SDC ex PAs and PAs with atypical epithelial cells (AEC). Exclusion criteria included recurrent lesions, invasion, positive margins, atypia only in myoepithelial cells, or other morphologic variants. Chromogenic multiplex (androgen receptor (AR) and HER2) and monoplex (p40) assays were performed on all available cases, as well as on a control group of non-atypical benign PAs and overtly invasive SDCs. Clinical outcomes were recorded.</p><p><strong>Results: </strong>96 cases were identified: 23 AEC, 6 apocrine metaplasia, 41 benign PA, 8 SDC ex PA. All AEC, apocrine metaplasia, and benign cases were treated with surgery alone, with 3 AEC cases also receiving a neck dissection. No case recurred. Five of 8 SDC ex PA recurred; 3 died of disease. AR and HER2 were respectively expressed in 96% and 22-48% of AEC; 83% and 0% of apocrine metaplasia; 51% and 0% of benign PA; and 86-100% and 38-57% of SDC ex PA. Patients had increasing average age from benign (~ 50 years) to atypical/in situ (60 years) to invasive carcinoma (~ 70 years).</p><p><strong>Conclusion: </strong>The presence of epithelial atypia within a PA (ranging from isolated AR expression to apocrine metaplasia to overtly dysplastic/malignant epithelial cells) does not portend recurrence or metastasis if the atypia is confined within the borders of the adenoma and negative margins are achieved. Therefore, use of the term \"in situ/intracapsular/intratumoral salivary duct carcinoma ex pleomorphic adenoma\" is discouraged in light of good prognosis and potential for overtreatment by clinical teams. Nomenclature such as pleomorphic adenoma with epithelial \"atypia\" or \"dysplasia\" is recommended, followed by a comment regarding the morphologic features and likely indolent behavior.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"109"},"PeriodicalIF":4.1,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12431996/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145042932","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}

{"title":"Salivary Oncocytic Intraductal Carcinoma of Harboring a Novel GAB1::FRK Gene Fusion.","authors":"Rumeal D Whaley, Christopher D Hofich, Kevin C Halling, Beth A Pitel","doi":"10.1007/s12105-025-01842-7","DOIUrl":"10.1007/s12105-025-01842-7","url":null,"abstract":"","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"110"},"PeriodicalIF":4.1,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12431971/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145042948","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}

{"title":"Myoepithelial Carcinoma Ex-Pleomorphic Adenoma Exposing a RET Germline Mutation: A Rare Genetic Event.","authors":"Manar Al Masri, Phillip Pirgousis, Alok A Bhatt, Jordan Reynolds, Douglas Riegert-Johnson, Shweta Agarwal","doi":"10.1007/s12105-025-01840-9","DOIUrl":"10.1007/s12105-025-01840-9","url":null,"abstract":"<p><p>Myoepithelial carcinoma (MECA) is a malignant neoplasm composed exclusively of myoepithelial cells and accounts for less than 1% of all salivary gland tumors. Its diagnosis is often challenging due to histologic overlaps with benign lesions and its variable morphologic presentation. Although molecular profiling has emerged as a valuable tool in salivary gland tumor classification, the genetic landscape of MECA remains incompletely defined. We report a case of a 65-year-old male with a history of chronic lymphocytic leukemia who presented with otalgia, sore throat, and dysphagia, ultimately diagnosed with a high-grade MECA of the submandibular gland following excision. Preoperative imaging revealed extensive regional lymphadenopathy and likely metastases to the lungs and ribs, and next-generation sequencing (NGS) identified a RET p.V804M variant, well-known to be pathogenic in medullary thyroid carcinoma but previously unreported in MECA. After this genetic change was subsequently found to be germline, this finding expands the implications for the breadth of RET as a tumor driver, particularly given the patient's older age at presentation, with RET alterations in salivary tumors most commonly associated with genetic fusion events.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"108"},"PeriodicalIF":4.1,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12417343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145014272","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}