Head & Neck Pathology最新文献

Background: The recent World Health Organization (WHO) classification of odontogenic tumours defines Sclerosing Odontogenic Carcinoma (SOC) as a rare primary intraosseous carcinoma (PIOC) of the jaws. With the exception of one case, there have been no cases of SOC with metastatic disease. We report a unique case of SOC with neck node metastases, further expanding the clinical, radiological and histological spectrum of this rare intriguing tumour.

Methods: A 52-year-old female presented with a destructive radiolucent lesion of right mandible. Incisional biopsy was interpreted as desmoplastic ameloblastoma. The segmental mandibulectomy specimen was histologically consistent with SOC with positive anterior margin. Further resection with neck dissection revealed positive right levels IB and IIA nodes. Immunohistochemistry and Fluroscent In Situ Hybridization (FISH) were performed to confirm the diagnosis.

Results: The tumour was positive for CK5, p63, p40 and negative for CK19, CK20, CK7, SOX-10, S100, ER, PR, BRAFV600E, and EWSR1 gene rearrangements. Ki67 was 15%.

Conclusion: To avoid confusion with PIOC, a high grade squamous cell carcinoma of the jaws with poor prognosis, SOC may be best defined as a rare infiltrative and locally aggressive odontogenic carcinoma with metastatic potential but with a reasonably favourable outcome. SOC shares similar histologic features with many benign and malignant tumours. An appropriate panel of immunohistochemical markers, in conjunction with special stains and molecular studies can help refine the differential diagnosis. It appears that a Ki67 proliferation index of more than 10%, may pose a risk for nodal metastasis and may assist in planning the clinical management. To achieve lower rates of positive margins and tumour recurrence, a wider resection margin (more than a centimetre) is recommended.

Purpose: This study aimed to investigate the role of DNA ploidy and proliferation index in distinguishing ameloblastoma (AB) from ameloblastic carcinoma (AC).

Methods: The study included 29 ACs, 6 conventional ABs that transformed into ACs, and a control cohort of 20 conventional ABs. The demographics and clinicopathologic details of the included cases were summarised and compared. The Ki-67 proliferation index was scored using the QuPath open-source software platform. DNA ploidy analysis was performed using high-resolution flow cytometry.

Results: The cohort of ABs presented at an overall younger age compared to both primary and secondary ACs. There was a statistically significant difference between the median duration of the tumour when comparing primary and secondary ACs, with ACs presenting with longer durations than the AB cohort. All cases of AC showed a relatively high median proliferation index of 41.7%, with statistically significant higher scores compared to ABs. DNA ploidy analysis showed that all cases in the AB cohort were diploid. Two diploid cases of AB that transformed into ACs were aneuploid when the corresponding secondary AC was analysed. Fourteen cases of AC were diploid and 12 were aneuploid, with no statistically significant association found between DNA ploidy status of primary and secondary ACs. A statistically significant difference was noted when the DNA ploidy status of ABs was compared to that of ACs. When comparing the Ki-67 proliferation score of ACs to their DNA ploidy status, no statistically significant association was noted.

Conclusion: DNA ploidy analysis and proliferation index via Ki-67 IHC are useful ancillary tests that may be used to support a diagnosis of AC and may assist in distinguishing between challenging cases of AB and AC.

Leiomyosarcoma (LMS) is a malignant mesenchymal neoplasm showing smooth muscle differentiation. Primary LMS of the thyroid gland is quite rare, accounting for only 0.014% of cases. We report a case of a leiomyosarcoma arising in the right thyroid lobe of a 43-year-old man with complete remission following surgery, radiation therapy and chemotherapy.

Introduction: Solitary fibrous tumor (SFT) is a fibroblastic neoplasm of uncertain biological origin that is rare in the tongue.

Case report: A 42-year-old woman presented with a painless, submucosal nodule in the tongue. Based on the clinical hypothesis of benign mesenchymal neoplasia, the lesion was excised, and the specimen was submitted for histopathological analysis. Microscopically, a proliferation of spindle cells with a patternless arrangement was observed, separated by dilated and angulated vascular spaces. Immunohistochemical analysis revealed positivity for CD34, CD99, Bcl-2, Ki-67 (< 5%), and negativity for S-100. Additionally, the tumor cells showed a positive nuclear reaction for STAT6. The diagnosis was a solitary fibrous tumor.

Conclusions: This report presents a case of SFT in the tongue, emphasizing its clinicopathological, microscopic, and immunohistochemical features.

Eosinophilia is a notable feature in various hematological malignancies, including specific types of leukemias and lymphomas that may occur in the head and neck. In hematologic malignancies, eosinophilia can be primary, driven by genetic abnormalities, or secondary, resulting from cytokine and chemokine production by the neoplastic cells or the tumor microenvironment. This review examines the association between eosinophilia and head and neck hematolymphoid malignancies including Classic Hodgkin lymphoma, T-cell lymphoblastic leukemia, mature T and NK-cell lymphomas, and Langerhans cell histiocytosis. It explores the underlying mechanisms of eosinophilia in these malignancies, highlighting the role of chemokines and cytokines such as IL-5, TARC, and eotaxin. Recognition of eosinophilia may aid in the diagnosis of these conditions and understanding the mechanisms of eosinophilia may provide insights into potential prognostic implications and treatment strategies.

Purpose: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.

Methods: Fine-needle aspiration (FNA), histopathology, immunohistochemistry, and molecular studies of this case were described.

Results: Fine-needle aspiration (FNA) revealed atypical basaloid cells, suggesting primary salivary gland carcinoma or metastasis. Histological examination showed basaloid-squamous cells with a monomorphic appearance containing foci of sebaceous differentiation, expressing pancytokeratin, p40, and androgen receptor, while CD34 staining was negative. Molecular studies identified a NAB2::STAT6 fusion, along with an AKT1 mutation.

Conclusion: This case further expands the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms and emphasizes comprehensive histopathological and molecular analysis in challenging head and neck tumors. It suggests STAT6 immunohistochemistry as a potential screening tool for head and neck tumors resembling sebaceous carcinoma, myoepithelial tumors, or GLI1-altered neoplasms.

Purpose: Recurrent diffuse-type tenosynovial giant cell tumor: Clinical presentation, Diagnosis, and Management.

Background: Tenosynovial giant cell tumor (TGCT), is a neoplasm arising from synovial joints, bursae, or tendon sheaths. The initial clinical symptoms are vague and non-diagnostic. Patients may present with non-specific complaints such as subtle joint discomfort or pain. As the lesion progresses, the joint range of motion will become limited resulting in swelling, effusion, stiffness, and hemarthrosis. According to the World Health Organization (WHO) classification, TGCTs are divided into two main subtypes based on their growth pattern: localized or diffuse. Diffuse-type TGCTs tend to be more aggressive.

Case presentation: An 82-year-old female presented with right facial swelling and discomfort. MRI showed a large mass centered in the right temporomandibular joint (TMJ) with erosive osseous changes at the skull base. Past medical history was significant for surgical resection of TGCT of the TMJ, 5 years earlier. The patient was subsequently seen by oral and maxillofacial surgery and neurosurgery and underwent a surgical resection. Histologic examination was consistent with a recurrent diffuse-type TGCT with chondroid metaplasia.

Discussion: The role of CSF1 protein over-expression in various synovial pathologies.

Purpose: Oral squamous cell carcinoma (OSCC) is a significant public health challenge associated with high mortality rates primarily due to its invasive and metastatic behavior. This study aimed to evaluate the expression patterns of five critical biomarkers: β-catenin, E-cadherin, podoplanin (PDPN), CXCR4, and p53 in OSCC tissues and to investigate their correlations with clinicopathologic features and patient outcomes.

Methods: We conducted an immunohistochemical analysis utilizing tissue microarrays (TMAs) from 95 patients diagnosed with primary OSCC. The expression levels of the five biomarkers were quantified using H-scores. Statistical analyses, including Kruskal-Wallis tests, Dunn's post-hoc tests, and correlation analyses, were performed to explore the associations between biomarker expression, clinicopathologic parameters, and overall patient survival.

Results: The study found that loss of E-cadherin and β-catenin expression was significantly associated with increased tumor depth and lymphatic invasion, corroborating their role in the process of epithelial-mesenchymal transition (EMT). High levels of PDPN were noted in both early and late-stage OSCC, indicating its potential involvement in initiating invasive behaviors. Notably, CXCR4 expression exhibited positive correlations with E-cadherin and β-catenin, suggesting a hybrid invasion phenotype incorporating both EMT and collective invasion strategies. Although Cox regression analysis did not reveal significant associations between biomarker expression and overall survival (OS) or disease-specific survival (DSS), factors such as alcohol consumption, tumor size, lymph node involvement, and advanced clinical stage emerged as significant negative predictors of both OS and DSS.

Conclusion: The expression profiles of β-catenin, E-cadherin, PDPN, CXCR4, and p53 in OSCC tissues provide valuable insights into a hybrid model of invasion that integrates mechanisms of EMT with an important rule in the tumor invasion. This nuanced understanding of OSCC progression highlights the potential of PDPN and CXCR4 as novel therapeutic targets, emphasizing the need for further investigation into their roles in OSCC biology and the development of targeted treatments that could improve patient outcomes and survival rates.

We present the case of a 51-year-old man with Von Hippel-Lindau disease and a history of renal transplantation who developed a persistent, painful tongue lesion with episodes of significant swelling. Given his history of prolonged immunosuppression and elevated cancer risk, oral squamous cell carcinoma was a major concern. However, histopathological evaluation confirmed recrudescent herpes simplex virus (HSV) infection rather than malignancy. The lesion fully resolved with antiviral therapy. This case is notable for its presentation mimicking malignancy in a high-risk patient and highlights the importance of considering infectious etiologies in immunosuppressed individuals. It underscores the need for thorough histopathologic evaluation to prevent misdiagnosis and ensure appropriate treatment, especially in patients at increased risk for both infection and cancer.

Purpose: Ultrasound-guided fine-needle aspiration cytology (FNAC) is a widely used diagnostic procedure which facilitates the differentiation of salivary gland lesions. Although the performance of salivary gland FNAC (SG-FNAC) has improved since the introduction of the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC), the range of the reported performance is still wide. Therefore, the aim of this study was to determine lesion- and sampling-related factors that influence the success of SG-FNAC.

Methods: All SG-FNAC cases performed in a tertiary referral hospital between September 1st, 2011, and August 31st, 2022, were retrospectively identified. Demographic, histopathological, lesion-specific, and sampling-related data were retrieved from the clinical charts. Cytopathological reports were categorized according to the MSRSGC. The risk of malignancy (ROM), the performance measures, and factors influencing the success of SG-FNAC were calculated.

Results: Overall, 1289 cases with histopathological follow-up diagnosis (out of 1952 SG-FNACs) were included. The ROM was: non-diagnostic = 23.9%, non-neoplastic = 4.4%, atypia of undetermined significance (AUS) = 34.5%, neoplasm-benign = 1.0%, neoplasm-salivary gland neoplasm of uncertain malignant potential (SUMP) = 15.3%, suspicious for malignancy = 74.1%, malignant = 96.2%. The sensitivity, specificity, accuracy, positive, and negative predictive value for differentiating benign from malignant lesions (excluding lesions categorized as AUS and SUMP) were 87.5%, 97.7%, 96.3%, 85.0%, and 98.1%, respectively. A larger lesion size (OR (95% CI) = 1.21 (1.06-1.39), p = 0.004), a higher number of obtained slides (OR (95% CI) = 1.31 (1.17-1.46), p < 0.001), and the physician performing the FNAC (p = 0.047) were independent predictors for a higher success, while localization of the lesion within the submandibular compared to the parotid gland (OR (95% CI) = 0.38 (0.19-0.77), p = 0.008) was an independent predictor for lower success of SG-FNAC.

Conclusion: This is the largest single-center study evaluating SG-FNAC performance to date. It identified independent lesion-and sampling-related factors influencing the success of SG-FNAC. Knowledge of those can improve performance of the procedure.