Head & Neck Pathology最新文献

{"title":"Aneurysmal Bone Cyst in the Anterior Region of the Mandible.","authors":"Sinval Vinícius Barbosa do Nascimento, Weslay Rodrigues da Silva, Caroline Augusta Belo Faria, Roberta Karolina Borges de Souza, Carlos Augusto Pereira do Lago, Ana Paula Veras Sobral","doi":"10.1007/s12105-024-01641-6","DOIUrl":"10.1007/s12105-024-01641-6","url":null,"abstract":"<p><p>Aneurysmal bone cyst is a rare osteolytic lesion of uncertain etiology, commonly observed in the lower limbs, with only 1-2% of reports in gnathic bones. We present the case of a 27-year-old male patient referred to the oral and maxillofacial surgery and traumatology service due to complaints of paresthesia in the mental region and increased mandibular volume. Physical examination revealed midline shift and hard consistency. Imaging examinations demonstrated a radiolucent/hypodense lesion with disruption of the mandibular cortices. The histopathological examination of incisional biopsy material led to the diagnosis of a central giant cell lesion. The patient underwent surgical resection, and the histopathological analysis of the specimen revealed a predominantly solid lesion, characterized by blood-filled spaces of varying size, not covered by epithelium or endothelium, with the presence of spindle cells, multinucleated giant cells, and basophilic osteoid material, concluding the diagnosis of mixed-type aneurysmal bone cyst. Despite being uncommon, aneurysmal bone cysts should be considered in the differential diagnosis of volumetric increase in the gnathic bones of young patients.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11183029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332285","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":"DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing.","authors":"Gord Guo Zhu, Chuanyong Lu, Ivana Petrovic, Khedoudja Nafa, Wen Chen, Aijazuddin Syed, Satshil Rana, Michael J Klein, Sinchun Huang, Lu Wang, William D Tap, Ronald A Ghossein, Jatin Shah, Meera R Hameed","doi":"10.1007/s12105-024-01634-5","DOIUrl":"10.1007/s12105-024-01634-5","url":null,"abstract":"<p><strong>Background: </strong>Craniofacial osteosarcomas (CFOS) are uncommon malignant neoplasms of the head and neck with different clinical presentation, biological behavior and prognosis from conventional osteosarcomas of long bones. Very limited genetic data have been published on CFOS.</p><p><strong>Methods: </strong>In the current study, we performed comprehensive genomic studies in 15 cases of high-grade CFOS by SNP array and targeted next generation sequencing.</p><p><strong>Result: </strong>Our study shows high-grade CFOS demonstrate highly complex and heterogenous genomic alterations and harbor frequently mutated tumor suppressor genes TP53, CDKN2A/B, and PTEN, similar to conventional osteosarcomas. Potentially actionable gene amplifications involving CCNE1, AKT2, MET, NTRK1, PDGFRA, KDR, KIT, MAP3K14, FGFR1, and AURKA were seen in 43% of cases. GNAS hotspot activating mutations were also identified in a subset of CFOS cases, with one case representing malignant transformation from fibrous dysplasia, suggesting a role for GNAS mutation in the development of CFOS.</p><p><strong>Conclusion: </strong>High-grade CFOS demonstrate highly complex and heterogenous genomic alterations, with amplification involving receptor tyrosine kinase genes, and frequent mutations involving tumor suppressor genes.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11183031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332286","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":"Oral Papillary Squamous Cell Carcinoma and Oral Squamous Cell Carcinoma: A Histopathological and Immunohistochemical Comparative Study.","authors":"Esraa Ashraf Mahmoud, Mohsen Kazem Abdellatif, Sarah Ahmed Mohammed Mahmoud","doi":"10.1007/s12105-024-01635-4","DOIUrl":"10.1007/s12105-024-01635-4","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of the study is to investigate the immunohistochemical expression of both Alpha smooth muscle actin and Transforming Growth Factor beta and compare their expression in oral papillary squamous cell carcinoma with their expression in different histological grades of oral squamous cell carcinoma. A correlation between these immuno-histochemical expressions and histological findings will then be performed. The research question is \"Do the percentages of α-SMA and TGF-β immune-expression in OPSCC differ from that in the conventional OSCC?\".</p><p><strong>Methods: </strong>This will be achieved by collecting archival blocks of oral papillary squamous cell carcinoma and different grades of oral squamous cell carcinoma, staining the specimens with Transforming Growth Factor beta and alpha smooth muscle actin, then measuring the mean staining index of expression in each group and the area percent of both markers.</p><p><strong>Results: </strong>Results revealed that transforming growth factor beta expression in the epithelium was high in all cases of well-differentiated squamous cell carcinoma, most oral papillary squamous cell carcinoma, and poorly differentiated oral squamous cell carcinoma. On the other hand, different grades of oral squamous cell carcinoma showed a high staining index of alpha smooth muscle actin expression in the stroma. While cases of oral papillary squamous cell carcinoma were either moderate or low-staining.</p><p><strong>Conclusions: </strong>Oral papillary squamous cell carcinoma has a favourable prognosis compared to different histological grades, and the prognosis does not depend only on histological grade but also on other prognostic factors.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11183025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332288","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":"A Peculiar Finding on the Ventrolateral Surface of the Tongue.","authors":"Gerardo Gilligan, Juan Cruz Romero Panico, María Fernanda Galindez Costa, Bruno Augusto Benevenuto de Andrade, René Panico","doi":"10.1007/s12105-024-01630-9","DOIUrl":"10.1007/s12105-024-01630-9","url":null,"abstract":"<p><p>Phleboliths are reported as calcifications that occur in vascular malformations, associated with changes in blood flow dynamics, thrombus formation and subsequent calcifications. Radiological examination, such as cone beam computed tomography (CBCT) could help in demonstrating the presence of a calcifiied mass. A 45-year-old male was referred to our service with an asymptomatic nodular purplish lesion located on the ventrolateral tongue. Within the lesion, a stony mass was also evident on palpation. A digital dental radiograph demonstrated two circumscribed radiopaque structures. Phleboliths associated with vascular malformation was the main diagnostic hypothesis. The patient underwent a sclerotherapy protocol allowing surgical accessibility to the area. Phlebolyts were surgically removed using electrocoagulation. Histopathological examination revealed phleboliths in the context of a vascular malformation with intense fibrosis.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11183027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332284","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":"Intraoral Salivary Gland Cystadenomas: A Case Series Study and Literature Review.","authors":"João Paulo Gonçalves de Paiva, Daniela Giraldo Roldán, Hélen Kaline Farias Bezerra, Alan Roger Santos-Silva, Márcio Ajudarte Lopes, Pablo Agustin Vargas, Jacks Jorge","doi":"10.1007/s12105-024-01661-2","DOIUrl":"10.1007/s12105-024-01661-2","url":null,"abstract":"<p><strong>Background: </strong>Salivary gland cystadenoma (SGCA) is a rare benign tumor that predominantly occurs in the parotid gland. SGCAs affecting the minor salivary glands are uncommon and often resemble, clinically and histopathologically, other salivary gland lesions.</p><p><strong>Methods: </strong>This study aimed to describe a series of four cases of SGCA affecting intraoral sites and performed a literature review of well-reported SGCA published in the English-language literature.</p><p><strong>Results: </strong>SGCA cases included in this series were diagnosed in the buccal mucosa, lip, and hard palate of female patients aged between 19 and 78 years. All cases underwent excisional biopsy and were histologically characterized by a multicystic growth with variable degrees of capsule formation and were lined by several types of epithelium, including some cell types that are infrequently reported in SGCA. In some cases, a small collection of lymphocytes was observed adjacent to cystic formations. All SGCA were positive for periodic acid-Schiff, and immunohistochemical reactions were positive for CK7 and p63. The follow-up time ranged widely from 3 to 53 months, and to date, no recurrence has been observed.</p><p><strong>Conclusion: </strong>The literature review revealed a total of 33 published studies accounting for 55 SGCA cases.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141297038","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":"Acinic cell Carcinoma with high-grade Squamoglandular and Chondrosarcomatous Transformation Mimicking 'Carcinosarcoma ex-pleomorphic Adenoma': A Wrinkle in the Proposed Nomenclature Revision for Sarcomatoid Salivary Gland Neoplasms.","authors":"Rayan Rammal, Bethany Batson, Matthew E Spector, Simion I Chiosea, Raja R Seethala","doi":"10.1007/s12105-024-01650-5","DOIUrl":"10.1007/s12105-024-01650-5","url":null,"abstract":"<p><p>While acinic cell carcinoma (AciCC) can undergo high-grade transformation (HGT) to high-grade adenocarcinoma or poorly differentiated carcinoma, other morphologies such as spindle cell/sarcomatoid carcinoma are rare and not well-characterized. We herein report a novel case of AciCC with squamoglandular and chondrosarcomatous HGT mimicking a so-called 'carcinosarcoma ex-pleomorphic adenoma'. The patient is an 81-year-old male with a two-month history of neck swelling and referred otalgia who presented with a left parapharyngeal space mass extending into retropharyngeal space and pterygoid muscles. On resection, the tumor showed considerable morphologic diversity with high-grade serous and mucous acinar components as well as cribriform to solid apocrine-like components with comedonecrosis and squamous differentiation, all of which were embedded in a chondromyxoid background ranging from paucicellular and bland to a high-grade chondrosarcoma/pleomorphic sarcoma-like appearance. Only a minor conventional AciCC component was noted. Immunostains were negative for AR and only focally positive for GCDFP-15 arguing against a true apocrine phenotype, while PLAG1 and HMGA2 were negative arguing against an antecedent pleomorphic adenoma. On the other hand, SOX-10, DOG-1 and PAS after diastase highlighted serous acinar differentiation, and mucicarmine, and NKX3.1 highlighted mucous acinar differentiation. NR4A3 immunohistochemical staining and NR4A3 fluorescence in situ hybridization were positive in the carcinomatous and sarcomatoid components while sequencing analysis of both components revealed identical alterations involving TP53, PIK3CB, ARID1A, and STK11. This unique case warrants caution in designating all salivary sarcomatoid carcinomas with heterologous elements as part of the 'carcinoma ex-pleomorphic adenoma' family.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11111628/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141077169","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":"Chronic Sclerosing Sialadenitis of the Submandibular Gland and its Histopathological Spectrum in the IgG4-Related Disease: a Series of 17 Cases.","authors":"Vinícius Rio Verde Melo Muniz, Albina Altemani, Valéria Souza Freitas, Bruno Cunha Pires, Dandara Andrade de Santana, Larissa Abbehusen Couto, Maria Cristina Teixeira Cangussu, Ricardo Santiago Gomez, Suzana Catanhede Orsine Machado de Souza, Pablo Augustin Vargas, Patrícia Ramos Cury, Iguaracyra Barreto de Araújo, Roberta Rayra Martins Chaves, Felipe Paiva Fonseca, Jean Nunes Dos Santos","doi":"10.1007/s12105-024-01651-4","DOIUrl":"10.1007/s12105-024-01651-4","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to characterize the histopathological immunohistochemical features of chronic sclerosing sialadenitis, emphasizing the IgG4-related disease.</p><p><strong>Methods: </strong>Seventeen cases of chronic sclerosing sialoadenitis were examined for histopathological aspects, (inflammation, fibrosis, glandular parenchyma, and lymphoid follicles) and immunohistochemistry (BCL2, CD3, CD20, CD34, CD163, p63, cyclin D1, mast cell, SMA, S100A4, IgG, and IgG4) which were scored. IgG4-related disease features were investigated. Demographic and clinical data were also collected.</p><p><strong>Results: </strong>Males predominated (10:7), with an average lesion size of 3.9 cm. Common histopathological findings included reduced acinar parenchyma, lymphoid follicle formation, and ductular proliferation. CD3-positive T lymphocytes and CD34- and SMA-positive stromal fibroblasts were abundant. Nine cases (53%) showed sialoliths and three cases met the criteria for IgG4-related disease.</p><p><strong>Conclusion: </strong>CSS of the submandibular gland represents a reactive pattern rather than IgG4-RD as only 3 cases seemed to be related to IgG4-RD. The immunohistochemical profile revealed an abundant population of CD3-positive T lymphocytes, as opposed to regulatory proteins such as cyclin D1, demonstrating that populations of CD34- and SMA-positive stromal fibroblasts contribute to the fibrosis characteristic of CSS. In addition, our results provide a comprehensive insight into the study of CSS and its relationship with IgG4-RD.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11089028/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913088","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":"A Novel Gene Fusion YLPM1::PRKD1 Identified in a Cribriform Subtype of Polymorphous Adenocarcinoma.","authors":"Monica Miyakawa-Liu, Michael G Ozawa, Michelle Chen, Mobeen Rahman","doi":"10.1007/s12105-024-01648-z","DOIUrl":"10.1007/s12105-024-01648-z","url":null,"abstract":"<p><p>Cribriform adenocarcinoma of the salivary gland (CASG) is an entity that is currently classified under polymorphous adenocarcinoma (PAC), cribriform subtype per the 2022 WHO classification of head and neck tumours. There is debate about whether CASG should be considered a separate diagnostic entity, as CASG differs from conventional PAC in anatomic site, clinical behaviors, and molecular patterns. Herein we describe a challenging and unique case which shares histologic and behavioral features between CASG and conventional PAC with a YLPM1::PRKD1 rearrangement not previously reported in the literature.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11089030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140913084","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":"CLIC4 Function in the Epithelial-Mesenchymal Transition of Epithelial Odontogenic Lesions.","authors":"Mariana Carvalho Xerez, Caio César da Silva Barros, Maurília Raquel de Souto Medeiros, Rodrigo Porpino Mafra, Hévio Freitas de Lucena, Éricka Janine Dantas da Silveira, Antonio de Lisboa Lopes Costa","doi":"10.1007/s12105-024-01646-1","DOIUrl":"10.1007/s12105-024-01646-1","url":null,"abstract":"<p><strong>Background: </strong>Odontogenic lesions constitute a heterogeneous group of lesions. CLIC4 protein regulates different cellular processes, including epithelial-mesenchymal transition and fibroblast-myofibroblast transdifferentiation. This study analyzed CLIC4, E-cadherin, Vimentin, and α-SMA immunoexpression in epithelial odontogenic lesions that exhibit different biological behavior.</p><p><strong>Methods: </strong>It analyzed the immunoexpression of CLIC4, E-cadherin, and Vimentin in the epithelial cells, as well as CLIC4 and α-SMA in the mesenchymal cells, of ameloblastoma (AM) (n = 16), odontogenic keratocyst (OKC) (n = 20), and adenomatoid odontogenic tumor (AOT) (n = 8). Immunoexpressions were categorized as score 0 (0% positive cells), 1 (< 25%), 2 (≥ 25% - < 50%), 3 (≥ 50% - < 75%), or 4 (≥ 75%).</p><p><strong>Results: </strong>Cytoplasmic CLIC4 immunoexpression was higher in AM and AOT (p < 0.001) epithelial cells. Nuclear-cytoplasmic CLIC4 was higher in OKC's epithelial lining (p < 0.001). Membrane (p = 0.012) and membrane-cytoplasmic (p < 0.001) E-cadherin immunoexpression were higher in OKC, while cytoplasmic E-cadherin expression was higher in AM and AOT (p < 0.001). Vimentin immunoexpression was higher in AM and AOT (p < 0.001). Stromal CLIC4 was higher in AM and OKC (p = 0.008). Similarly, α-SMA immunoexpression was higher in AM and OKC (p = 0.037). Correlations in these proteins' immunoexpression were observed in AM and OKC (p < 0.05).</p><p><strong>Conclusions: </strong>CLIC4 seems to regulate the epithelial-mesenchymal transition, modifying E-cadherin and Vimentin expression. In mesenchymal cells, CLIC4 may play a role in fibroblast-myofibroblast transdifferentiation. CLIC4 may be associated with epithelial odontogenic lesions with aggressive biological behavior.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140898950","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":"Columnar Cell Thyroid Carcinoma: A Heterogeneous Entity Demonstrating Overlap Between Papillary Thyroid Carcinoma and Follicular Neoplasms.","authors":"Kathleen E Higgins, Peter M Sadow, Daniel N Johnson, Peng Wang, Pankhuri Wanjari, Nicole A Cipriani","doi":"10.1007/s12105-024-01645-2","DOIUrl":"10.1007/s12105-024-01645-2","url":null,"abstract":"<p><strong>Background: </strong>Columnar cell papillary thyroid carcinoma (CC-PTC) is a morphologic subtype of papillary thyroid carcinoma with a variable prognosis. It is characterized by neoplastic thyroid follicular-derived cells with pseudostratified columnar morphology arranged in papillary or follicular structures with supranuclear or subnuclear vacuoles. The molecular profile of this subtype has only recently come under scrutiny, with mixed results. The aim of this study is to further explore the morphologic, immunohistochemical, and genetic profile of CC-PTC, as well as to correlate these features with clinical outcomes.</p><p><strong>Methods: </strong>CC-PTC cases were identified from 3 institutions. Immunohistochemistry (ER, CDX2) and molecular testing (DNA and RNA sequencing) were performed. Clinicopathologic parameters and patient outcomes were recorded.</p><p><strong>Results: </strong>Twelve cases (2006-2023) were identified, all in adults (age 45-91). Two presented with disease outside the thyroid gland (neck and mediastinum) and two presented with distant metastasis. Four were high-grade differentiated thyroid carcinomas (necrosis or mitoses), one of which died of disease. Four were noninvasive or minimally invasive, one of which locally recurred. Three patients had lymph node metastases. ER and CDX2 were positive in 73% and 50%, respectively. Pathogenic mutations were found in TERT promoter (n = 3), RAS (n = 2), ATM, NOTCH1, APC, and ESR1, along with cases bearing AGK::BRAF fusion (n = 1), BRAF VE1 expression (n = 1), and NF2 loss (n = 1).</p><p><strong>Conclusions: </strong>This study represents the largest molecularly defined cohort of non-oncocytic thyroid carcinomas with columnar cell morphology. These tumors represent a genetically and behaviorally heterogeneous group of neoplasms, some of which have RAS-like or follicular neoplasm-like genetics, some of which have BRAF-p.V600E-like or classic papillary thyroid carcinoma-like genetics, and some of which remain unclear. Noninvasive or minimally invasive tumors showed an indolent course compared to those with angioinvasion, gross extrathyroidal growth, or high-grade morphology. Consideration could be given to reclassification of this neoplasm outside of the subtyping of papillary thyroid carcinoma in light of its genetic diversity, distinct morphology, and clinical behavior more closely aligned with follicular thyroid neoplasms.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140899069","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}