Head and neck pathology最新文献

{"title":"Metastatic SMARCA4-Deficient Undifferentiated Carcinoma of the Oral Cavity: A Case Report and Review of Literature.","authors":"Min Kyeong Kim, Peter Hertz, Sook-Bin Woo","doi":"10.1007/s12105-025-01819-6","DOIUrl":"https://doi.org/10.1007/s12105-025-01819-6","url":null,"abstract":"<p><strong>Purpose: </strong>SMARCA4-deficient high-grade malignancies are increasingly recognized across various anatomic sites, namely the genitourinary tract thorax, gastrointestinal tract, head and neck, and central nervous system. Within the head and neck region, the sinonasal tract is most commonly affected. These tumors are aggressive, often presenting with local or distant metastases at diagnosis, and median survival ranges from 4 to 7 months. We report a rare case of SMARCA4-deficient carcinoma presenting as a metastasis to the oral cavity, highlighting key histopathologic and clinical features.</p><p><strong>Case report: </strong>A 63-year-old woman presented with a 3.0 × 2.0 × 2.0 cm exophytic mass involving teeth #25-28 and a 4 cm poorly defined radiolucency in the mandible. Histologically, the tumor was composed of diffuse sheets of large polygonal epithelioid cells with indistinct borders, pale eosinophilic cytoplasm, vesicular pleomorphic nuclei, prominent nucleoli, and numerous atypical mitotic figures and apoptotic bodies. Immunohistochemistry showed focal positivity for pankeratin, CAM5.2, and claudin-4. The tumor was negative for S100, SOX10, and SMARCA4 (BRG1), confirming SMARCA4-deficiency. A CT scan revealed a 5.5 cm mandibular lesion and a 16 cm right upper lobe lung mass, with additional nodules in the contralateral lung, thyroid, kidney, and widespread lymphadenopathy. The findings were consistent with a primary thoracic SMARCA4-deficient undifferentiated tumor with diffuse metastases. The patient died within two months of initial diagnosis of the oral metastasis.</p><p><strong>Conclusion: </strong>To our knowledge, this is the first reported case of this unusual tumor metastasizing to the oral cavity. Given the aggressive nature and metastatic potential of these tumors, it is essential to evaluate for a distant primary malignancy when such a lesion is encountered in the head and neck.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"85"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human Dirofilariasis- An Underrecognized Zoonosis.","authors":"Vindhya Savithri, Rakesh Suresh, Mahija Janardhanan, Ravi Veeraraghavan, Jaeson Mohanan Painatt, Aravind M S, Thara Aravind, Lisha Mathew","doi":"10.1007/s12105-025-01826-7","DOIUrl":"https://doi.org/10.1007/s12105-025-01826-7","url":null,"abstract":"<p><p>Dirofilariasis is a rare zoonotic disease caused by the filarial nematode of the genus Dirofilaria. It is an uncommon zoonosis which was previously reported in endemic areas. However, with climate change, it is being reported in non-endemic areas too. Domestic animals like dogs are their natural hosts and in rare instances, their microfilariae may spread by mosquito bite to humans where they may cause subcutaneous nodules or severe cardiopulmonary disease depending on the species. Dirofilariasis, caused by the species Dirofilaria repens, presenting clinically as subcutaneous nodules have been reported in the face including the oral cavity and orbital area. A 60-year-old female patient reported with the complaint of a facial swelling of one month duration. A non-tender firm swelling was noted in the buccal vestibule in relation to the mandibular left canine and premolars. An odontogenic source of infection was ruled out, and an excisional biopsy was done. Cross-sections of the adult Dirofilaria repens worm with an eosinophil-rich granulomatous reaction was identified on microscopy.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"88"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unusual Locations of Extra-Glossal Ectomesenchymal Chondromyxoid Tumors with RREB1-MRTFB Gene Fusions: A Report of Two Cases.","authors":"Alexandre Archambault Marsan, Myriam Chevarie-Davis, Josée Doyon, Joel Abikhzer, Jennifer Sirois, Jérémie Berdugo","doi":"10.1007/s12105-025-01806-x","DOIUrl":"https://doi.org/10.1007/s12105-025-01806-x","url":null,"abstract":"","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"83"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Palisading Adenocarcinoma: Several New Inherited Cases in Six Patients of a Familial Cohort.","authors":"Xiaoyang Zhang, Justin A Bishop, Chunrui Yang, Yuyan Yang, Jiangtao Cui, Meizhou Liu","doi":"10.1007/s12105-025-01824-9","DOIUrl":"https://doi.org/10.1007/s12105-025-01824-9","url":null,"abstract":"<p><strong>Introduction: </strong>The past two decades have seen the introduction of several new variants of established salivary gland tumors, along with occasional, entirely novel entities. Palisading adenocarcinoma was described in 2023 with a handful of subsequent additional case reports. We encountered several seemingly inherited cases of palisading adenocarcinoma in a familial cohort.</p><p><strong>Methods: </strong>Within the affected family, all available archival surgical pathology and cytopathology material was retrieved and reviewed. Clinical history was obtained through chart review. Whole-exome sequencing was performed on two cases.</p><p><strong>Results: </strong>Six patients were affected by palisading adenocarcinoma. The patients ranged from 33 to 72 years (mean, 52.3 years) and were all women. Each patient had ≥ 2 documented tumors, and the locations of involvement were: parotid gland (n = 7), floor of mouth (n = 4), submandibular gland (n = 3), neck (n = 2), orbit (n = 1), and maxilla (n = 1). Although not every clinically documented case was available for histologic review, all cases that were evaluated demonstrated the features described for palisading adenocarcinoma, including two cell populations of ducts with polygonal neuroendocrine-like cells arranged as trabeculae with palisading, and strong positivity for CD56 but not other neuroendocrine markers. Whole-exome sequencing did not reveal any recurrent alterations.</p><p><strong>Conclusion: </strong>We present 18 new cases of palisading adenocarcinoma, including 12 documented pathologically, occurring in women in the same family. This series doubles the published experience of this emerging tumor. While most of the previously published features of palisading adenocarcinoma were confirmed (female predominance, Asian population, sublingual and submandibular location), this series expands what is known about this neoplasm with novel sites (with parotid gland being most common) and apparent inheritability, a very rare characteristic among salivary gland neoplasms. While we were unable to uncover its molecular driver, this potential inheritability is a clue that may allow for future studies to unravel the genetics of palisading adenocarcinoma.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"86"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reticular and Myxoid Variant of EBV-positive Nasopharyngeal Carcinoma Mimicking Salivary Gland Tumors: A Case Series.","authors":"Che-Chi Liao, Ying-Ju Kuo, Yen-Wen Lu, Ko-Hung Shen, Shiuan-Li Wey, Ren-Ching Wang, Nien-Yi Chang, Min-Shu Hsieh, Yun-An Chen","doi":"10.1007/s12105-025-01825-8","DOIUrl":"https://doi.org/10.1007/s12105-025-01825-8","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to characterize the rare morphological variant of nasopharyngeal carcinoma known as reticular and myxoid nasopharyngeal carcinoma (RMNK-NPC), which poses diagnostic challenges due to its resemblance to salivary gland tumors. We seek to detail its histopathological and immunohistochemical features, clarify differential diagnoses, and evaluate clinical outcomes.</p><p><strong>Methods: </strong>Cases of RMNK-NPC were retrospectively identified from pathology consultation archives and multidisciplinary conference records in Taiwan. Histopathological features, including results of previously performed immunohistochemical stains and Epstein-Barr virus-encoded RNA (EBER) in situ hybridization, were reviewed by three pathologists. Relevant clinical information and imaging findings were collected when available. A literature search was conducted to identify previously reported cases with similar histological features.</p><p><strong>Results: </strong>The cohort included eight patients (7 males, 1 female; median age 65.5 years). Clinical presentations included advanced-stage tumors with lymph node metastases in seven patients and distant metastasis in two patients. All tumors exhibited myxoid stroma with reticular, trabecular, and cord-like arrangements of epithelioid to spindle cells, with transition to non-keratinizing squamous cell carcinoma (NKSCC) in three cases. Immunohistochemistry showed consistent positivity for pan-cytokeratin and squamous markers, while other myoepithelial markers were mostly negative, except SOX10. EBER ISH showed strong nuclear positivity in most cases, confirming EBV association. Limited follow-up data for four patients who received chemoradiotherapy showed stable disease at 3-4 months in two. The other two patients died at 42 and 108 months, respectively, from unrelated causes, with no recurrence observed.</p><p><strong>Conclusion: </strong>RMNK-NPC represents an EBV-associated NPC with unique histomorphology that overlaps with salivary gland tumors. Accurate diagnosis relies on comprehensive immunohistochemical panels and EBER ISH. Awareness of this entity is crucial to avoid misdiagnosis and guide appropriate treatment.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"87"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629236","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Metastatic Intraparotid Balloon Cell Melanoma: A Diagnostic Challenge.","authors":"Reed A McKinney, Kerry B Baumann, Robert D Foss","doi":"10.1007/s12105-025-01814-x","DOIUrl":"https://doi.org/10.1007/s12105-025-01814-x","url":null,"abstract":"<p><strong>Background: </strong>BCM is an uncommon cytomorphologic variant with the potential to mimic unrelated neoplastic conditions, especially in the absence of a known cutaneous primary lesion or limited access to immunohistochemical stains.</p><p><strong>Case presentation: </strong>A 28-year-old male patient presented with recent onset parotid gland mass. The mass was excised, and the subsequent workup elicited an interpretation of metastatic balloon cell melanoma (BCM). Despite an extensive evaluation, no evidence of a primary tumor site was identified.</p><p><strong>Diagnosis: </strong>The diagnosis was confirmed based on positive staining for BRAF, HMB45, Melan-A, PRAME, S100, and SOX-10 in the malignant cells.</p><p><strong>Conclusion: </strong>Familiarity with the histologic and immunophenotypic findings may help to ensure an accurate diagnosis.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"84"},"PeriodicalIF":0.0,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144629233","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case of Acinic Cell Carcinoma Metastasizing to the Heart.","authors":"Aniqa Nuzhat Chowdhury, Shayna DeSando, Fatima Zahra Aly","doi":"10.1007/s12105-025-01808-9","DOIUrl":"10.1007/s12105-025-01808-9","url":null,"abstract":"<p><p>We present the case of a patient with acinic cell carcinoma of the parotid gland who was found to have metastasis to the left atrium of the heart. The pathologic findings and prior reports of metastasis of acinic cell carcinoma are discussed in this article. Grading of acinic cell carcinoma and utility of immunohistochemical study using NOR-1 is discussed.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"82"},"PeriodicalIF":0.0,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12234930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144577583","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":"Revision of an Early History of Calcifying Epithelial Odontogenic Tumor: Herkert's Original Description (1914).","authors":"Fumio Ide, Shinnichi Sakamoto, Michiko Nishimura, Yuji Miyazaki, Kentaro Kikuchi","doi":"10.1007/s12105-025-01823-w","DOIUrl":"10.1007/s12105-025-01823-w","url":null,"abstract":"","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"81"},"PeriodicalIF":0.0,"publicationDate":"2025-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12228626/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144568311","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":"Lipomatous Metaplasia in a Warthin Tumor: A Rare Histopathological Finding.","authors":"Asiye Üzümcü, Melek Büyük, Beyza Nur Baysal, Neslihan Berker, Mine Güllüoğlu","doi":"10.1007/s12105-025-01822-x","DOIUrl":"10.1007/s12105-025-01822-x","url":null,"abstract":"<p><p>We present a case of Warthin tumor (WT) exhibiting lipomatous metaplasia. This rare histopathological feature can mimic lipomatous lesions, particularly in hypocellular samples, and should be recognized as a potential diagnostic pitfall. Recognition of this feature is important to avoid diagnostic errors.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"80"},"PeriodicalIF":0.0,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12227378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144562614","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":"Blue Nevus of The Palate: A Case Image.","authors":"Laura Silva Siano Rodrigues, Isabella de Almeida Francisquini, Yuri de Lima Medeiros, Daniel Amaral Alves Marliere, Vivian Petersen Wagner, Matheus Furtado de Carvalho","doi":"10.1007/s12105-025-01821-y","DOIUrl":"10.1007/s12105-025-01821-y","url":null,"abstract":"<p><p>A 54-year-old female patient was referred to the oral surgery department of a public university with a complaint of a dark spot on the palate that had been present for eight months. Clinical examination revealed a well-circumscribed, darkly pigmented macule measuring approximately 1.5 cm × 1 cm located in the posterior hard palate. The lesion's location and size raised suspicion of malignancy. An incisional biopsy was performed, and histopathological analysis showed the presence of spindle cells containing light brown pigmented granules compatible with melanin. The final diagnosis was of blue nevus. The lesion was surgically excised, with satisfactory healing, and a follow-up period of 5 months. Blue nevus is a melanocytic lesion that typically presents as a small pigmented spot and is rare in the oral cavity. This case is notable due to the lesion's size and location and overlapping features commonly associated with malignancy, posing a diagnostic challenge, particularly for pathologists who infrequently review melanocytic lesions. This highlights the critical role of histopathological analysis in establishing a definitive diagnosis. Additionally, careful clinical follow-up is essential to monitor healing and detect any potential recurrence.</p>","PeriodicalId":520636,"journal":{"name":"Head and neck pathology","volume":"19 1","pages":"79"},"PeriodicalIF":0.0,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12209113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144532814","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}