Head & Neck Pathology最新文献

Purpose: Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a rare, locally aggressive tumor with distinct pathological features and treatment paradigms commonly occurring in the head and neck region. Microscopically, it consists of a biphasic population of small neuroblast-like cells and larger melanin-containing epithelioid cells. The main purpose of this study is to characterize clinicopathological and immunohistochemical features of MNTI at a single institution and discuss challenges in the differential diagnosis.

Methods: We performed a retrospective analysis of MNTI cases diagnosed at our center during a 10-year period and discussed the differential diagnoses.

Results: Eleven MNTI cases were identified. Median patient age was 5 months. Male to Female ratio was 1.75:1. Tumor distribution was in the Maxilla (n = 8), Mandible (n = 1) greater wing of Sphenoid (n = 1), and Temporal bone (n = 1). All tumors revealed classic biphasic morphology in the resection specimens. By immunohistochemistry, 9/9 (100%) cases were positive for both AE1/AE3 and HMB45 in the larger epithelioid cells and 6/6 (100%) were positive for Synaptophysin in the smaller neuroblast-like cells. One patient had unique nested areas composed of mature glial tissue. One patient who had incomplete resection was given adjuvant radiotherapy. One patient developed a solitary ipsilateral lymph nodal metastasis. Follow-up period ranged from 1 to 93 months. All the patients were alive with no evidence of disease at the last follow-up (median: 16 months).

Conclusions: Lack of consideration of MNTI in the differential diagnosis can lead to misdiagnosis and undue exposure to cytotoxic therapies. Awareness of the classic biphasic morphology and distinct immunoprofile of MNTI is essential.

Purpose: Mucoepidermoid carcinoma is the most common malignant tumor of the salivary gland. MEC harboring MAML2 rearrangement has a favorable prognosis. This study investigated the histologic and locational diversity of head and neck mucoepidermoid carcinoma, clinicopathologic characteristics, and associations with CRTC1/3::MAML2 fusion.

Methods: Patients with head and neck mucoepidermoid carcinoma (n = 128) treated from February 2004 to December 2016 were included. Retrospective analysis encompassed clinical data, pathologic findings, and prognoses, with concurrent performance of fluorescence in situ hybridization to detect MAML2 rearrangement.

Results: The 128 head and neck mucoepidermoid carcinomas comprised 76 parotid gland, 29 oral cavity, 10 submandibular/sublingual, 8 pharynx, 2 lip, 2 sinonasal cavity, and 1 larynx MEC. The parotid gland was the most common site (59%), and the classic subtype was predominant (69%). MAML2 fusion was detected in 84% of analyzed cases and was strongly associated with low-grade tumors (P < 0.001). MAML2-negative cases exhibited higher rates of lymphovascular invasion, nodal metastasis, and poorer outcomes. Tumors in the parotid, submandibular gland, sublingual gland, oral cavity, and oropharynx, showed more frequent MAML2 rearrangement, than nasopharynx, larynx, lip, and paranasal sinus origin (P < 0.001). The classic and Warthin-like subtypes showed higher MAML2 rearrangement than other subtypes (P = 0.001). MAML2 fusion status was a statistically significant predictor of overall survival by univariate (P = 0.039) and multivariate (P = 0.048) analyses.

Conclusion: The presence MAML2 fusion is a favorable prognostic marker in mucoepidermoid carcinoma, with its prevalence varying by location and subtype. Its varying prevalence across locations and subtypes highlights its significant prognostic relevance. These findings underscore the importance of molecular testing and histopathologic evaluation in predicting clinical outcomes.

Purpose: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Background: 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.

Case presentation: An 82-year-old male with a left parotid mass underwent superficial parotidectomy.

Methods: Microscopic examination of immunohistochemical stains and fluorescence in situ hybridization (FISH) studies were performed.

Results: 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.

Conclusion: This case expands the spectrum of IDL-associated tumors and suggests IDLs may serve as MEC precursors.

Purpose: 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.

Methods: 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).

Results: 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.

Conclusion: 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.

Purpose: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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.

Aim: 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.

Materials and methods: 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.

Results: 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%).

Conclusions: 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.