Head & Neck Pathology最新文献

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Interpretative Nuances in Risk Prediction of Ameloblastoma Recurrence.
IF 3.2
Head & Neck Pathology Pub Date : 2025-04-08 DOI: 10.1007/s12105-025-01777-z
Carlos M Ardila, Pradeep K Yadalam
{"title":"Interpretative Nuances in Risk Prediction of Ameloblastoma Recurrence.","authors":"Carlos M Ardila, Pradeep K Yadalam","doi":"10.1007/s12105-025-01777-z","DOIUrl":"https://doi.org/10.1007/s12105-025-01777-z","url":null,"abstract":"","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"42"},"PeriodicalIF":3.2,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811966","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}
引用次数: 0
Tonsillar Leishmaniasis: A Rare Clinical Entity Mimicking Malignancy in the Oropharynx - A Case Series from Northeastern Italy.
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-26 DOI: 10.1007/s12105-025-01773-3
Giulia Querzoli, Margherita Ortalli, Stefania Varani, Matteo Errani, Andrea Ambrosini-Spaltro, Marina Del Vecchio, Anna Rita Lombardi, Paolo Rinaldi, Carlo Biagetti, Riccardo Albertini, Luca Amorosa, Alessandro Rosti, Marco Trebbi, Paolo Farneti, Ernesto Pasquini, Antonio Mastroianni, Maria Pia Foschini, Valeria Gaspari
{"title":"Tonsillar Leishmaniasis: A Rare Clinical Entity Mimicking Malignancy in the Oropharynx - A Case Series from Northeastern Italy.","authors":"Giulia Querzoli, Margherita Ortalli, Stefania Varani, Matteo Errani, Andrea Ambrosini-Spaltro, Marina Del Vecchio, Anna Rita Lombardi, Paolo Rinaldi, Carlo Biagetti, Riccardo Albertini, Luca Amorosa, Alessandro Rosti, Marco Trebbi, Paolo Farneti, Ernesto Pasquini, Antonio Mastroianni, Maria Pia Foschini, Valeria Gaspari","doi":"10.1007/s12105-025-01773-3","DOIUrl":"10.1007/s12105-025-01773-3","url":null,"abstract":"<p><strong>Purpose: </strong>Tegumentary leishmaniasis (TL) is a neglected disease in Europe, often underdiagnosed or misdiagnosed due to its variable clinical presentation. Mucosal leishmaniasis (ML) is a rare manifestation of TL, and isolated tonsillar leishmaniasis is an even rarer finding, with very few reported cases. This study aims to expand knowledge on this unusual clinical entity by describing five cases of isolated tonsillar leishmaniasis diagnosed in the Emilia-Romagna region (ERR), northeastern Italy, emphasizing diagnostic challenges and treatment outcomes.</p><p><strong>Methods: </strong>Between January 2014 and December 2024, all consecutive patients presenting with unilateral tonsillar swelling and pharyngodynia were evaluated at otolaryngology units in ERR hospitals. Histopathological analysis, special stains (H&E, Giemsa, PAS, Ziehl-Neelsen), and immunostaining (CD1a) were performed at the referring hospital. Microbiological confirmation was obtained through real-time PCR targeting Leishmania kDNA and rRNA. Treatment was administered according to current TL guidelines.</p><p><strong>Results: </strong>We included five patients who presented with unilateral tonsillar swelling mimicking malignancy and with a histological diagnosis of non-necrotizing granulomas. Histology revealed amastigotes in four cases. PCR confirmed Leishmania infection in all cases. Treatment with liposomal amphotericin B or pentamidine led to complete clinical remission.</p><p><strong>Conclusion: </strong>Isolated tonsillar leishmaniasis should be considered in the differential diagnosis of head and neck tumors, especially in endemic regions. Histological and molecular tools are essential for accurate diagnosis. Increased awareness among clinicians and pathologists is necessary to improve recognition and management of this rare presentation.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"39"},"PeriodicalIF":3.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11947358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732337","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
Mucoepidermoid Carcinoma Associated with an Intercalated Duct Lesion: Precursor or Coincidence?
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-26 DOI: 10.1007/s12105-025-01774-2
Joshua S Goldfaden, Seungwon Kim, Raja R Seethala
{"title":"Mucoepidermoid Carcinoma Associated with an Intercalated Duct Lesion: Precursor or Coincidence?","authors":"Joshua S Goldfaden, Seungwon Kim, Raja R Seethala","doi":"10.1007/s12105-025-01774-2","DOIUrl":"10.1007/s12105-025-01774-2","url":null,"abstract":"<p><strong>Background: </strong>Mucoepidermoid carcinoma (MEC) typically occurs in isolation. We report an unusual case of MEC coexisting with an intercalated duct lesion (IDL), both harboring MAML2 rearrangements.</p><p><strong>Case presentation: </strong>An 82-year-old male with a left parotid mass underwent superficial parotidectomy.</p><p><strong>Methods: </strong>Microscopic examination of immunohistochemical stains and fluorescence in situ hybridization (FISH) studies were performed.</p><p><strong>Results: </strong>The parotid demonstrated an intermediate grade MEC and an adjacent IDL with the typical abluminal ΔNp63 (p40) and ductal SOX-10 immunopositivity, but absent LEF-1 and nuclear β-catenin staining. FISH confirmed MAML2 rearrangements in both lesions.</p><p><strong>Conclusion: </strong>This case expands the spectrum of IDL-associated tumors and suggests IDLs may serve as MEC precursors.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"41"},"PeriodicalIF":3.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11947407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732326","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
Salivary Epithelial-Myoepithelial Carcinoma: Clinical, Histopathological and Molecular Study from A Latin American Case Series with a Novel MSH3 Driver.
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-26 DOI: 10.1007/s12105-025-01776-0
Monique Sedlmaier França, Paula Valente E Silva, Marina Henriques do Amaral, Rennan Garcias Moreira, Fernanda Viviane Mariano Corrêa, Jean Nunes Dos Santos, Marina Gonçalves Diniz, Ricardo Santiago Gomez, Roberta Rayra Martins-Chaves
{"title":"Salivary Epithelial-Myoepithelial Carcinoma: Clinical, Histopathological and Molecular Study from A Latin American Case Series with a Novel MSH3 Driver.","authors":"Monique Sedlmaier França, Paula Valente E Silva, Marina Henriques do Amaral, Rennan Garcias Moreira, Fernanda Viviane Mariano Corrêa, Jean Nunes Dos Santos, Marina Gonçalves Diniz, Ricardo Santiago Gomez, Roberta Rayra Martins-Chaves","doi":"10.1007/s12105-025-01776-0","DOIUrl":"10.1007/s12105-025-01776-0","url":null,"abstract":"<p><strong>Purpose: </strong>Epithelial-myoepithelial carcinoma (EMC) is a rare malignant neoplasm of the salivary glands. Although most studies have reported the predominant, recurring driver mutation is in HRAS, its molecular pathogenesis is not yet fully understood. The aim of this study is to describe the clinical and histopathological characteristics of a case series of salivary EMC with non-RAS genetic variants.</p><p><strong>Methods: </strong>Fifteen formalin-fixed paraffin-embedded (FFPE) samples of EMC were retrospectively retrieved. Clinicopathological data was recovered from medical records. Two cases with sufficient tissue were assessed through next-generation sequencing (NGS).</p><p><strong>Results: </strong>EMC occurred more frequently in females (60%). The mean age at diagnosis was 59.5 (± 14.5) years. The parotid was the most common primary site (80%). Time from first symptoms to diagnosis was 41 months in average. Pathological staging I, II and III occurred in 21.4%, 28.6% and 50% of the cases, respectively. Only one participant had regional lymph node involvement, and none were metastatic. The margins were involved in 41.6% of cases. All the patients were surgically treated, including neck dissection in two subjects, and 33% received adjuvant radiotherapy. One patient relapsed (6.7%) after an average of 32.4 months of follow-up. NGS analysis revealed 160 germline mutations in 46 genes of interest, of which 11 were previously described as pathogenic or as variant of uncertain significance (VUS). Only one somatic frameshift deletion involving MSH3 (c.1148del p.K383Rfs*32) gene was detected.</p><p><strong>Conclusion: </strong>This study explores EMC in a Latin American cohort. The findings align with global literature, and a novel MSH3 mutation was identified. However, further research is needed to confirm its significance and potential impact on tumor behavior.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"40"},"PeriodicalIF":3.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11947366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732331","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
Molecular Markers in Oral Lichen Planus - Insight into Pathogenesis.
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-26 DOI: 10.1007/s12105-025-01775-1
Maria Zaharieva Mutafchieva, Milena Nenkova Draganova, Georgi Tomchev Tomov
{"title":"Molecular Markers in Oral Lichen Planus - Insight into Pathogenesis.","authors":"Maria Zaharieva Mutafchieva, Milena Nenkova Draganova, Georgi Tomchev Tomov","doi":"10.1007/s12105-025-01775-1","DOIUrl":"10.1007/s12105-025-01775-1","url":null,"abstract":"<p><strong>Purpose: </strong>Oral lichen planus (OLP) is a chronic inflammatory disease, characterized by immune-mediated basal keratinocyte apoptosis. In recent years the importance of programmed cell death for the tissue destruction in OLP has been disputed, while at the same time an increased proliferative index has been reported in the epithelium of these lesions. OLP is considered as a precancerous condition. This study investigated the expression of pro-apoptotic, anti-apoptotic and proliferative markers in OLP lesions in an attempt to understand more about the pathogenesis and malignant potential of the disease.</p><p><strong>Methods: </strong>Twenty patients with histologically confirmed OLP were compared to ten healthy controls through immunohistochemical analysis of the levels of p53, p63, bcl-2, Ki-67 and COX-2.</p><p><strong>Results: </strong>The results demonstrated significantly decreased expression of p63 in OLP lesions compared to normal oral mucosa. The levels of p53, bcl-2, Ki-67, and COX-2 were not significantly different from those in the control group. A significant association was found between p63 and Ki-67 (p = 0.001), as well as between p63 and p53 (p = 0.016). Expression of the inflammatory COX-2 and the apoptotic p53 appeared to be independent of each other (p = 0.44). The intensity of expression of any of the five analyzed markers was not related to the severity of the clinical manifestation.</p><p><strong>Conclusions: </strong>The obtained results suggest that apoptosis may not be the dominant mechanism in the disease's pathogenesis. Decreased expression of p63 on the other hand appears to play an important role. Among the possible effects of this protein deficiency are activation of programmed cell death, cell cycle arrest, cellular senescence, or anoikis; suppression of cell proliferation or changes in cell differentiation. The observed reduction in p63, Ki67 and bcl-2 levels predisposes to epithelial thinning, erosions and/or ulcers. For the presented OLP cohort, there was no molecular evidence of increased malignant potential of the lesions.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"38"},"PeriodicalIF":3.2,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11947335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732323","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
Infectious Diseases in the Head and Neck with Eosinophilia.
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-24 DOI: 10.1007/s12105-025-01759-1
Irene Chen, Abberly Lott Limbach
{"title":"Infectious Diseases in the Head and Neck with Eosinophilia.","authors":"Irene Chen, Abberly Lott Limbach","doi":"10.1007/s12105-025-01759-1","DOIUrl":"10.1007/s12105-025-01759-1","url":null,"abstract":"<p><p>Eosinophilia, defined as an elevated eosinophil count either in blood or tissue, has diverse implications for diagnosing and managing various diseases. Elevated eosinophil levels are often associated with conditions such as allergic reactions, autoimmune disorders, and specific infections. In the realm of head and neck pathology, eosinophilia can offer valuable insights into underlying infectious processes, which are often challenging to diagnose due to their overlap with other inflammatory and allergic conditions. This review describes the roles of blood and tissue eosinophilia in several infectious processes affecting the head and neck region. We focus on nine key conditions: allergic fungal rhinosinusitis, mycetoma, invasive fungal rhinosinusitis, rhinosporidiosis, baylisascariasis, toxocariasis, onchocerciasis, loiasis, and histoplasmosis. Allergic fungal rhinosinusitis, for example, is a hypersensitivity reaction to fungal antigens and is frequently associated with significant eosinophilic inflammation. Conversely, mycetoma, invasive fungal rhinosinusitis, and rhinosporidiosis may include eosinophils as part of a mixed inflammatory infiltrate. Histoplasmosis may also induce systemic eosinophilia as an atypical immune response to fungal infection. Additionally, baylisascariasis, toxocariasis, onchocerciasis, and loiasis are parasitic infections that often lead to systemic eosinophilia. By exploring these conditions, this review elucidates how identification of eosinophilia contributes to the diagnostic process. Understanding the association between eosinophilia and these infectious processes involving the head and neck is crucial for enhancing diagnostic accuracy, differentiating between similarly presenting conditions, and guiding effective treatment strategies.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"37"},"PeriodicalIF":3.2,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933600/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143701574","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
Correction: International Consensus Recommendations of Diagnostic Criteria and Terminologies for Extranodal Extension in Head and Neck Squamous Cell Carcinoma: An HN CLEAR Initiative (Update 1).
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-19 DOI: 10.1007/s12105-025-01772-4
Ruta Gupta, Timothy Fielder, Munita Bal, Simion I Chiosea, Jane E Dahlstrom, Aanchal Kakkar, Katalin Kiss, Jan Laco, Neha Mittal, Sunil Pasricha, Spinder Samra, Nina Zidar, Martin Bullock, Rebecca Chernock, William Faquin, Shao Hui Huang, Jean Yang, Sun Och Yoon
{"title":"Correction: International Consensus Recommendations of Diagnostic Criteria and Terminologies for Extranodal Extension in Head and Neck Squamous Cell Carcinoma: An HN CLEAR Initiative (Update 1).","authors":"Ruta Gupta, Timothy Fielder, Munita Bal, Simion I Chiosea, Jane E Dahlstrom, Aanchal Kakkar, Katalin Kiss, Jan Laco, Neha Mittal, Sunil Pasricha, Spinder Samra, Nina Zidar, Martin Bullock, Rebecca Chernock, William Faquin, Shao Hui Huang, Jean Yang, Sun Och Yoon","doi":"10.1007/s12105-025-01772-4","DOIUrl":"10.1007/s12105-025-01772-4","url":null,"abstract":"","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"36"},"PeriodicalIF":3.2,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665133","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
Calcifying Epithelial Odontogenic Tumour (Pindborg Tumour): A Report of 20 Cases and Review of the Literature.
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-15 DOI: 10.1007/s12105-024-01716-4
Lucas Fabian Polti, Romina Belén Gorrino-Baquero, Krissya María Villegas, Nathalie Amaya-Londoño, María Luisa Paparella
{"title":"Calcifying Epithelial Odontogenic Tumour (Pindborg Tumour): A Report of 20 Cases and Review of the Literature.","authors":"Lucas Fabian Polti, Romina Belén Gorrino-Baquero, Krissya María Villegas, Nathalie Amaya-Londoño, María Luisa Paparella","doi":"10.1007/s12105-024-01716-4","DOIUrl":"10.1007/s12105-024-01716-4","url":null,"abstract":"<p><strong>Aim: </strong>The aim of the present work was to analyze 20 cases of calcifying epithelial odontogenic tumour (CEOT), also known as \"Pindborg tumour\", and contrast the data with findings reported in the literature.</p><p><strong>Materials and methods: </strong>Twenty cases of CEOT filed in the archives of the Surgical Pathology Laboratory of the Oral Pathology Department, School of Dentistry, University of Buenos Aires, over a period of 63 years (1960-2023) were retrieved. Their histopathological, histochemical-immunohistochemical, and clinical-radiographic features were evaluated, and the obtained data were compared with those reported in the literature.</p><p><strong>Results: </strong>CEOT accounted for 1% of odontogenic tumours and 0.02% of oral pathologies filed over the study period. Seventeen cases (85%) were intraosseous lesions (solid: 14 cases; cystic: three cases). Three cases (15%) were extraosseous (solid: two cases; cystic: one case). One case, an intraosseous tumour, was malignant. Three cases (15%) showed clear cells (intraosseous location: two cases; extraosseous location: one case), and two cases (10%) (intraosseous) had fusiform cells. All cases showed amyloid deposits and calcifications. Mean age was 36 years (10-71 years). A female predominance was observed (12 cases, 60%), and the prevalent location was the mandible (14 cases, 70%).</p><p><strong>Conclusions: </strong>CEOT is infrequent and presents a wide range of morphological features, making diagnosis challenging. Two cases in our series, intraosseous tumours, showed spindle cell epithelial proliferation, and one extraosseous case was cystic. To our knowledge, this is the first study to report these findings.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"34"},"PeriodicalIF":3.2,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910454/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634053","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
Intraneural Pseudoperineuriomatous Proliferations and Traumatic Neuromas: A Retrospective Multicenter Study of Clinicopathological Characteristics. 硬膜内假包膜神经瘤增生和创伤性神经瘤:临床病理特征的回顾性多中心研究。
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-15 DOI: 10.1007/s12105-025-01771-5
Jully Elisabeth Gundlach, Victor Angelo Martins Montalli, Larissa Araujo Agatti, Thamiris Castro Abrantes, Kelly Tambasco Bezerra, Aline Corrêa Abrahão, Mário José Romañach, Silvio Luiz Vieira Oliveira, Nara Ligia Martins Almeida, Vanessa Soares Lara, Fernanda Aragão Felix, Patrícia Carlos Caldeira, Lucas Guimarães Abreu, Ricardo Alves Mesquita, Cristiane Furuse, Ana Lia Anbinder
{"title":"Intraneural Pseudoperineuriomatous Proliferations and Traumatic Neuromas: A Retrospective Multicenter Study of Clinicopathological Characteristics.","authors":"Jully Elisabeth Gundlach, Victor Angelo Martins Montalli, Larissa Araujo Agatti, Thamiris Castro Abrantes, Kelly Tambasco Bezerra, Aline Corrêa Abrahão, Mário José Romañach, Silvio Luiz Vieira Oliveira, Nara Ligia Martins Almeida, Vanessa Soares Lara, Fernanda Aragão Felix, Patrícia Carlos Caldeira, Lucas Guimarães Abreu, Ricardo Alves Mesquita, Cristiane Furuse, Ana Lia Anbinder","doi":"10.1007/s12105-025-01771-5","DOIUrl":"10.1007/s12105-025-01771-5","url":null,"abstract":"<p><strong>Background and purpose: </strong>Described in 2013, intraneural pseudoperineuriomatous proliferations (IPP) present perineurial cells concentrically surrounding the axon-Schwann cell complexes, forming pseudo-onion bulbs. Different from intraneural perineuriomas, rare neoplasms with differentiation of perineural cells, IPP are reactive, associated with fibrosis, and frequently diagnosed histologically as traumatic neuroma (TN). The aim of this study was to characterize IPP by exploring its clinicopathological features and differentiating it from the main neural lesions that are part of the histopathological differential diagnosis through a retrospective study in six Brazilian Oral Pathology laboratories.</p><p><strong>Methods: </strong>Cases diagnosed as IPP, TN and intraneural perineuriomas were selected from the archives of the participating centers. Data on age, sex, race, symptoms, site, size, and clinical features and diagnosis were obtained from histopathological reports. Hematoxylin and eosin-stained slides were then re-evaluated by two examiners. Finally, statistical tests were performed to assess the association between clinical, pathological and demographic characteristics (p < 0.05).</p><p><strong>Results: </strong>After reclassification, 152 TN, 48 IPP and no case of intraneural perineurioma were diagnosed. Clinically, IPP and TN are similar, but IPP affects younger individuals, presents less reported pain, and is more commonly found on the tongue, while TN is frequently observed on the lip, alveolar ridge, and mental foramen. Both lesions typically present as fibrous nodules, often clinically misdiagnosed as fibrous hyperplasia. IPP is fibrous in all cases, more superficial in the mucosa, less frequently associated with adipose tissue and inflammation. These features may assist clinical dentists and pathologists in differentiating lesions.</p><p><strong>Conclusion: </strong>Although histologically similar, pathologists should note the perineural cell proliferation in IPP to avoid confusion with TN (a common reactive lesion) or intraneural perineurioma (a rare neoplastic lesion).</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"32"},"PeriodicalIF":3.2,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634177","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
BRAF p.V600E-Negative Langerhans Cell Histiocytosis Associated with a Periapical Cyst: A Case Presentation with Broad Review of the Differential Diagnosis and Disease Pathophysiology.
IF 3.2
Head & Neck Pathology Pub Date : 2025-03-15 DOI: 10.1007/s12105-025-01763-5
Anneze Odendaal, Ashwin Kassan, Leon Janse van Rensburg, Amir H Afrogheh
{"title":"BRAF p.V600E-Negative Langerhans Cell Histiocytosis Associated with a Periapical Cyst: A Case Presentation with Broad Review of the Differential Diagnosis and Disease Pathophysiology.","authors":"Anneze Odendaal, Ashwin Kassan, Leon Janse van Rensburg, Amir H Afrogheh","doi":"10.1007/s12105-025-01763-5","DOIUrl":"10.1007/s12105-025-01763-5","url":null,"abstract":"<p><strong>Background: </strong>Langerhans cell histiocytosis (LCH) rarely presents in the oral and maxillofacial region, and while isolated and small collections of Langerhans-type cells have been found in periapical cysts, there have been no reported cases of LCH arising in periapical cysts.</p><p><strong>Methods: </strong>A 58-year-old female presented with isolated erythematous dry skin lesions and a radiolucent lesion of the anterior maxilla. Microscopic examination of the enucleation specimen revealed a periapical cyst with large collections of atypical cells with grooved folded nuclei with eosinophils consistent with LCH. Immunohistochemistry (IHC) was performed to confirm the diagnosis. BRAF mutation status was evaluated with the BRAF p. V600E antibody and the automated real-time PCR-based Idylla™ assay, capable of qualitative detection of 5 mutations in codon 600 of the BRAF gene.</p><p><strong>Results: </strong>The LCH cells were positive for S100, CD1a, and Langerin (CD 207) and negative for BRAF p. V600E mutations. Ki-67 was 45%.</p><p><strong>Conclusion: </strong>The association of LCH with a periapical cyst could be explained by the active surveillance and migration of neoplastic Langerhans-type cells in blood to the site of apical chronic inflammation, in a patient with LCH. Careful attention to morphologic features in conjunction with Langerin IHC, helps exclude other closely-related dendritic tumours. BRAF p. V600E testing, ideally with real-time PCR assays, can help identify patients who may benefit from BRAF inhibitor therapies. New generations of sequencing that cover a large panel of genetic alterations beyond the frequent BRAF p. V600E mutations (e.g. rare in-frame BRAF deletions), could provide valuable information about the extent, prognosis and treatment of LCH patients.</p>","PeriodicalId":47972,"journal":{"name":"Head & Neck Pathology","volume":"19 1","pages":"33"},"PeriodicalIF":3.2,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11910447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634131","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
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