Head & Neck Pathology最新文献

Tissue eosinophilia is a common finding during histopathologic evaluation and recognizing its presence oftentimes aids pathologists in arriving at the correct diagnosis. The head and neck region is an anatomic location where an abundance of eosinophil-rich disorders occur. In this review, we seek to provide an overview of eosinophil morphology, production, regulation, lifecycle, recruitment, function, and mediators. We will also summarize the most commonly diagnosed eosinophil-rich disorders, both non-neoplastic and neoplastic, occurring in the head and neck.

Purpose: The earliest known case of cemento-osseous dysplasia could be detected in a Bronze Age skeleton, dating back 4500 years ago in the region of the North Caucasus. Although the soft tissue was missing, sufficient diagnosis could be achieved by using different methods that prove the existence of fibro-osseous processes already in prehistory. Skeletal remains provide a direct view of such changes which cannot be obtained from a living patient without compromising.

Methods: A skeleton of a 30-40-year-old female individual from the burial mound of Budyonnovsk 10 (including 19 individuals) in Southern Russia was investigated using macroscopic, radiographic, and microscopic methods.

Results: In the mandible, destruction of the labial wall of the alveoli 32 and 31 is already visible macroscopically. At the base of the lesion, the original bone is replaced by fine porous bone including small dense particles: plain radiography and computed tomography evidence localized processes to the periapical areas of all lower incisors. The lesions are mainly radiolucent, only the particles in alveolus 32 have a radiopaque appearance. Microscopy shows woven bone as filling of the lesions and additional hypocellular materials in alveolus 32, which can best be explained as cementum-like structures.

Conclusions: The lesion´s location in the periapical areas of the lower incisors, the woven bone, and cementum-like structures fit the diagnosis of periapical cemento-osseous dysplasia. The presence of a second individual with focal cemento-osseous dysplasia in this burial mound is an interesting co-occurrence that requires further genetic analysis.

Limitations: The diagnosis is solely based on the skeletal remains, soft tissue components are missing.

Suggestions for further research: Genetic analyses are planned to detect the underlying mutation for the two individuals.

Purpose: Plasma circulating tumor HPV DNA (ctHPVDNA) persistence after curative-intent treatment may identify patients with HPV-positive cancers at risk for recurrence. Technical validation is required for use as an integral biomarker in a prospective clinical trial.

Methods: Development and analytical validation of a digital droplet PCR assay for detection and quantification of 13 high-risk HPV types (i.e., Cell-Free 13) was performed with oligonucleotides/plasmids encoding type-specific E6/E7 coding regions. Clinical performance, determinants of detection/quantification, and associations of pre-treatment ctHPVDNA with progression-free survival (PFS) were also evaluated in a prospective cohort of 272 head and neck cancer patients.

Results: Limit of detection, limit of quantification, and linear range of quantification were 5, 16 and 16-200,000 virus copies for all 13 high-risk HPV types. No cross-reactivity was detected across all 13 HPV types. At 10,000 copies, inter-assay coefficients of variation ranged from 0.3 to 4.6%. Multiplexing, DNA purification method, input plasma volume, total input cell-free (< 1800 ng) or genomic (< 700 ng) DNA did not affect HPV detection or quantification. The assay had a sensitivity of 91.7% (95%CI 87.3-94.9%) and specificity of 97.7% (95%CI 87.7-99.9%) for ctHPVDNA detection in the setting of newly diagnosed HPV-positive oropharyngeal cancer. Tumor and nodal stage categories, tumor viral load (ρ = 0.41, p < 0.05), and HPV integration status were associated with ctHPVDNA quantitative level. Pre-treatment ctHPVDNA greater than the median (231 copies/ml) was associated with worse PFS (HR = 2.14, 95%CI 1.16-3.97, p = 0.0156) in univariate analysis. However, this was no longer significant after adjustment for clinical covariates (HR_adj = 1.81, 95%CI 0.97-3.37, p = 0.0635).

Conclusion: Cell-Free 13 demonstrated excellent analytical performance and clinical sensitivity/specificity in HPV-positive oropharyngeal cancer. Pre-treatment ctHPVDNA may be associated with oncologic outcomes.

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.