Head & Neck Pathology最新文献

Purpose: Measure associations between clinicopathological and immunohistochemical human Mut-L homologue 1 (hMLH1) gene, and human Mut-L homologue 2 (hMSH2) genes, variables in recurrent AMBs.

Methods: This study consisted of a research retrospective, observational case-control study consisting of 22 cases of recurrent AMB and 22 non-recurrent cases. Cases of AMB with more than one year of follow-up were included in the study. Quantitative immunohistochemical analysis was performed considering the cellular location (nuclear) of the proteins studied. The McNemar test was used to compare variables between primary and recurrent AMBs. Recurrence-free survival was analyzed by the Kaplan-Meier method and survival functions were compared according to the variables using the log-rank test.

Results: The posterior mandible was the most affected site in the recurrent (n = 18, 81.8%) and non-recurrent groups (n = 16, 72.8%). Recurrence-free survival was 50.0 (34.5-63.6) months. The following factors were significantly associated with AMB recurrence: presence of cortical bone expansion (p = 0.01), absence of bone reconstruction (p = 0.02), conservative treatment (p = 0.02), loss of hMSH2 (p = 0.01) and hMLH1 (p = 0.04) immunoexpression, and strong Ki-67 immunoexpression (p = 0.03). The risk factors for AMB recurrence were anatomical location (OR = 3.31), locularity (OR = 1.07), cortical expansion (OR = 6.17), cortical perforation (OR = 2.10), bone resorption (OR = 1.52), tooth impaction (OR = 1.86), jaw reconstruction (OR = 6.92), and immunoexpression of hMSH2 (OR = 10.0) and hMLH1 (OR = 4.50).

Conclusion: Radiographic appearance, treatment modality, and immunoexpression of mismatch repair proteins can be used as predictors of AMB recurrence.

Purpose: Extranodal extension (ENE) increases the risk of recurrence and death in head and neck squamous cell carcinoma (HNSCC) patients and is an indication for treatment escalation. Histopathology forms the mainstay of diagnosing ENE. There is substantial variation in the diagnosis of ENE and related terminology. Harmonising the diagnostic criteria for ENE was identified as a priority by the Head and Neck Consensus Language for Ease of Reproducibility (HN CLEAR) Steering Committee and its global stakeholders.

Methods: An international working group including 16 head and neck pathologists from eight countries across five continents evaluated whole slide images of haematoxylin and eosin-stained sections depicting potential diagnostic problems through nine virtual meetings to develop consensus guidelines.

Results: ENE should be diagnosed only when viable carcinoma extends through the primary lymph node (LN) capsule and directly interacts with the extranodal host environment with or without desmoplastic stromal response. Identifying the original LN capsule and reconstruction of its contour can assist in the detection and assessment of ENE. The term matting is recommended for confluence of two or more nodes due to histologically identifiable tumour extending from one LN to another. Matting constitutes major form of ENE. On the other hand, the terms fusion/adhesion/confluence/conglomeration and other synonyms of adhesion should be limited to confluence due to fibrosis or inflammation without histologically identifiable tumour between involved lymph nodes. Tumour extension along narrow needle tracks or spillage of cyst contents following an FNA do not constitute ENE.

Conclusions: The consensus recommendations encompassing the definition of ENE, macroscopic and histologic examination of lymph nodes (LN) and practical guidelines for handling challenging cases are provided.

Purpose: In 2022, the World Health Organization (WHO) proposed new criteria for the diagnosis of oral epithelial dysplasia (OED), however their association with patient's outcome is still unknown. This study compared the different classification systems of OED and evaluate their efficacy in predicting malignant transformation.

Methods: A total of 195 slides of leukoplakia and erythroplakia were graded according to the WHO 2017, 2022, and the Binary System classification, and were correlated with the lesion's evolution.

Results: A progressive increase in malignant transformation according to the severity of OED, with both the WHO and the Binary classification systems was detected. Among individual criteria, changes in cell morphology were independently associated with an increased risk of malignant transformation (HR = 2.8, 95%CI 1.1-7.5, p = 0.032). Considering the new set of OED criteria published in 2022, it was detected that a new cutoff of 4 architectural alterations and 6 cytological alterations predicts better malignant transformation.

Conclusion: Malignant transformation was equally predicted by the OED classification systems. Due to the increased number of architectural and cytological features in WHO 2022, a new cutoff for classifying OED from low to high-grade considering 4 architectural and 6 cytological alterations is proposed. The findings allow a more accurate assessment of malignant transformation risk in OED.

Background: Autophagy is involved in several critical cellular processes regulating cell survival and death. Past research suggests that it may either act as a tumor suppressor or promote tumor progression. The purpose of this systematic review and meta-analysis was to evaluate the clinical and prognostic utility of a significant autophagy related protein-Beclin1, in oral squamous cell carcinoma (OSCC).

Methods: Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines were followed. Relevant literature was retrieved from PubMed, ScienceDirect and Google Scholar database. After removal of duplicates quality of the studies was assessed using Newcastle-Ottawa Scale. Heterogeneity was assessed using I² index. Random effect model was used if I² was more than 50% else fixed effect model was selected. Meta-analysis was carried out using Review Manager (RevMan; Version 5.4).

Results: Five studies with 494 cases were included in this meta-analysis. Beclin1 expression in OSCC was not significantly associated (p > 0.05) with gender, age, tumor size, lymph node metastasis, histological differentiation and overall survival. Nevertheless, a trend for low Beclin1 expression favoring tumor progression was observed. Sensitivity analysis revealed significant nodal positivity related to low Beclin1 expression.

Conclusion: This study provided an overview of Beclin1 expression in OSCC and highlighted additional evaluations while its use as a prognostic marker. It is suggested that future studies should assess both nuclear as well as cytoplasmic expression of Beclin1 and report intra- and inter-tumor variations in its expression relating to clinicopathological parameters.

Purpose: Ameloblastic fibro-odontoma (AFO) is a rare benign mixed odontogenic tumor that, after being classified for years as a distinct entity, was redefined as a "developing odontoma" in the 2017 World Health Organization classification. This article presents a unique case of an AFO with an FGFR1 mutation.

Methods: We present a case of an 8-year-old child with a slowly progressive swelling in the lower left mandible. Next-generation sequencing (TSO500 panel) was performed.

Results: Panoramic radiography revealed an odontogenic tumor; therefore, a transoral enucleation was performed. Pathological microscopic examination confirmed the diagnosis of AFO, and next-generation sequencing detected an FGFR1 mutation.

Conclusion: The presence of an FGFR1 mutation in an AFO may suggest a closer biological relationship between ameloblastic fibroma and AFO, potentially distinguishing it from odontomas. Further research, including genetic studies, is needed to enhance our understanding and refine the classification of these tumors.

Purpose: Approximately 10% of all lymphomatoid papulosis (LyP) cases affect pediatric patients. Pediatric LyP is clinically similar to adult LyP, frequently with cutaneous involvement, whereas the affectation of mucosal surface is rare. The LyP clinicopathological spectrum includes type A, B, C, D, E, and LyP with DUSP22/IRF4 rearrangement, with LyP type D representing < 5% of all LyP cases.

Methods: We have previously reported 2 cases of exclusively intraoral LyP type C and E. To date, about 50 cases of LyP type D have been reported; of them, 8 cases, all but one with exclusive skin involvement, corresponded to pediatric patients. Rare LyP type C cases can lack CD30 expression, creating diagnostic difficulties with lymphoma.

Results: Here, we report an extremely rare case of intraoral LyP type D with scarce/absent CD30 expression affecting a 12-year-old white Brazilian boy.

Conclusions: To our best knowledge, this is the first pediatric case of LyP type D with exclusive intraoral involvement.

Background: One of the major challenges in the treatment of laryngeal squamous cell carcinoma (LSCC) with organ-preserving therapies is the emergence of treatment resistance. The JAK/STAT pathway has been increasingly implicated in this resistance, particularly through the overexpression or persistent activation of STAT3. Increased STAT3 expression is thought to be associated with resistance to radiotherapy and/or chemotherapy, and STAT3 inhibitors have been proposed as potential targeted treatments.

Objectives: The primary objective of this study is to investigate the relationship between STAT3 expression and treatment resistance in patients with LSCC undergoing organ-preserving therapy and to evaluate the association between STAT3 expression and clinical/histopathologic prognostic parameters. A secondary objective is to evaluate STAT3 expression in diagnostic biopsies and laryngectomy specimens from treatment-resistant patients to investigate the potential predictability of treatment resistance from initial biopsy specimens.

Methodology: The study included 123 patients diagnosed with LSCC between 2008 and 2022, all of whom received nonsurgical treatment. Patients were divided into two groups based on their response to treatment: treatment-sensitive patient group (TSPG) and treatment-resistant patient group (TRPG). Immunohistochemical staining for p-STAT3 was performed on a diagnostic biopsy for each TSPG patient and on both pre- and post-treatment biopsies for each TRPG patient. STAT3 expression levels were scored and their association with treatment resistance, clinical and pathological parameters was analysed.

Results: No statistically significant difference in p-STAT3 expression was found between the two groups. TSPG patients were significantly older at diagnosis (p = 0.038), and tumor location differed between groups (p = 0.001). No significant differences in histopathologic or clinical prognostic parameters were observed between patients with high and low STAT3 expression. In addition, no significant difference in STAT3 staining was found between diagnostic biopsies and laryngectomy specimens in TRPG patients.

Conclusion: STAT3 expression was not associated with treatment resistance in LSCC, and its expression level did not correlate with prognostic parameters or survival outcomes. Therefore, STAT3 does not appear to be a useful biomarker for predicting treatment resistance or prognosis in LSCC.

Background: Necrotizing sialometaplasia (NSM) is a rare self-limiting inflammatory lesion, with most cases affecting the minor salivary glands, especially those located in the palate (70%). To date, about 261 cases of NSM have been reported. Of them, 7 cases affected the tongue; 37 cases occurred after surgery; and 17 cases showed association with neoplasms.

Methods: A 50-year-old male patient was diagnosed with squamous cell carcinoma (SCC) of the tongue. After surgical excision, the tumor diagnosis was well-differentiated SCC with a close surgical margin. Re-excision of the margin was indicated.

Results: Microscopically, the surgical margin showed neither residual SCC nor epithelial dysplasia. However, it was possible to observe 7 foci containing typical areas of NSM distributed throughout the surgical specimen, which, by immunohistochemistry, revealed a glandular nature with presence of myoepithelial cells.

Conclusion: We present here an unusual multifocal NSM affecting the tongue at the site of a prior resection for SCC with close margins, which, to the best of our knowledge, has not been reported to date.

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.

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.