Head & Neck Pathology最新文献

We describe the novel occurrence of a adenocarcinoma involving the trachea, with distinct solid and glandular components, in a 34-year-old patient. We illustrate its morphological and immunophenotypic features and describe the molecular finding of an EWSR1::BEND2 gene fusion detected by next-generation sequencing (NGS). We discuss the findings in comparison to BEND2-fusion associated neoplasms reported in the head and neck region in the literature to date.

Objective: To analyze the frequency, clinical, histopathological, and radiological characteristics of ameloblastoma in Nigeria over the course of two decades.

Study design: A retrospective analysis was conducted on 371 cases at a Nigerian university hospital between 2000 and 2023. Age, gender, site, histological variants, tumor size and duration were analyzed. Statistical analyses included the Shapiro-Wilk test, Mann-Whitney U test, Chi-square test, and Spearman rank correlation analysis.

Results: The median patient age was 30 years (mean age 32.2), with a male-to-female ratio of 1.12:1. 54.7% of cases occurred in young adults (age range 20-39 years). Among the lesions, 11.3% were in the maxilla and 88.7% in the mandible. Patients with mandibular lesions had a median age of 29 years, while those with maxillary lesions had a statistically significantly higher median age of 37.5 years p-value = 0.001. Median tumor size was 36 cm² for the mandible and 24 cm² for the maxilla (significant p-value of 0.002). There was no correlation between tumor size, age, or gender. However, there was a significant correlation between tumor size and the duration of the condition.

Conclusion: The study concludes that ameloblastoma is more frequent among younger individuals in Nigeria and often presents with larger tumor sizes, emphasizing the need for early detection and intervention.

Introduction: Segmental Odontomaxillary Dysplasia (SOD) is a non-hereditary, unilateral developmental anomaly recently included in the WHO's classification of head and neck tumors.

Case presentation: Here, we report the case of an 8-year-old boy presenting with unilateral maxillary enlargement and pain without facial asymmetry. Computed tomography revealed a hypodense area in the maxillary bone with altered bone structure and osseous expansion. An incisional biopsy showed fibrous hyperplasia in the gingiva, dysplastic dentin, and reversal lines in the bone trabeculae. Following the diagnosis of SOD, the patient was referred for treatment.

Conclusion: To date, only 72 cases have been reported. SOD typically manifests in early childhood, with a male predominance. While the etiology remains unclear, mutations in the PIK3CA gene have been associated with its development. Further research is needed to better understand the disease and improve patient management.

Introduction: Solitary fibrous tumor (SFT) represents an uncommon mesenchymal neoplasm affecting primarily the extremities and deep soft tissues with, overall, benign but locally aggressive biologic behavior and an underlying pathognomonic NAB2::STAT6 fusion. Intraosseous SFTs are infrequent, and involvement of the jawbones is exceedingly rare.

Case presentation: A 54-year-old woman presented with an asymptomatic, well-demarcated, multilocular radiolucency of the left posterior mandible featuring focally irregular borders, root resorption and lingual cortex perforation. The lesion had shown progressive growth over a 6-year period. Microscopically, a proliferation of predominantly ovoid and spindle-shaped cells with indistinct cell membrane borders, elongated, plump or tapered, hyperchromatic nuclei, and lightly eosinophilic cytoplasm was noted. Marked cytologic atypia, pleomorphism and mitoses were absent. A secondary population of epithelioid cells exhibiting ovoid or elongated vesicular nuclei, and abundant, pale eosinophilic or vacuolated cytoplasm was also present. The supporting stroma was densely fibrous with areas of marked hyalinization and variably-sized, ramifying, thin-walled vessels. By immunohistochemistry, lesional cells were strongly and diffusely positive for STAT6 and CD99, and focally immunoreactive for MDM2 and SATB2. Ki-67 was expressed in less than 5% of lesional cells, while most interspersed epithelioid cells were positive for the histiocyte marker, CD163. Molecular analysis disclosed a NAB2::STAT6 fusion confirming the diagnosis of SFT. The patient underwent segmental mandibulectomy.

Conclusions: Herein, we report the first case of primary intraosseous SFT of the mandible with complete documentation of its characteristic immunohistochemical and molecular features. Diagnosis of such unusual presentations may be further complicated by the challenging histomorphologic diversity of SFT.

Purpose: Current standard of care for ameloblastoma (conventional/unicystic - mural type) usually mandates extensive bone resection that frequently necessitates immediate reconstruction with serious sequelae, especially among young patients. BRAF-mutated ameloblastomas can be targeted by BRAF inhibitors to markedly reduce their size, enabling conservative removal of residual tumor. We aimed to characterize the effect of post-treatment histomorphologic changes.

Methods: Study included 14 patients, 11 mandibular and three maxillary tumors. Cases with very minimal residual tumor were defined as near-complete response, while those with mostly vital residual tumor as partial response. The epithelium component was scored for architectural and cellular changes, stroma - for fibrosis, inflammation and new bone formation, on a 3-tired score system: 0-no, 1-focal and 3-frequent changes. The mean scores of each parameter, total epithelium and total stroma were calculated and related to duration of treatment. Differences in the mean scores were investigated for mandibular tumors with near-complete response (n = 3) and partial response (n = 8).

Results: There were no significant differences in mean epithelium or stroma scores between tumors with near-complete and those with partial response (2.22 ± 0.68 versus 2.08 ± 0.43, p = 0.55; 1.41 ± 1.04 versus 1.43 ± 0.44, p = 0.27), suggesting that ameloblastomas have potential to undergo complete response to targeted treatment. This is probably dependent upon tumor/patient/treatment-related factors. Response to treatment appears to be predictable with neoplastic epithelium being first, while the stromal response increases during treatment, the entire process expanding over weeks-to-months.

Conclusion: Albeit preliminary, these are the first comprehensive histomorphologic findings on BRAF-treated ameloblastomas. Analyzing the suggested parameters in tumors with partial response, should highlight which tumor component has responded/failed to respond. This could serve as a basis for decision-taking toward subsequent steps in adjuvant treatment (e.g., follow-up, conservative surgery, modifications/changes in treatment regimen, combinations of approaches), with a prime aim of jaw preservation and minimal risk of sequelae.

Purpose: This study aimed to conduct a systematic review summarizing the clinicopathological, prognostic, and molecular features of salivary gland intraductal carcinoma (SGIC).

Methods: This study followed the PRISMA 2020 guidelines and was registered in the PROSPERO database. It included case reports, case series studies, and cohort studies of SGIC indexed in the PubMed, Web of Science, Scopus, and Embase databases published between 1983 and 2024. Collected variables underwent descriptive analysis, association analysis using Fisher's tests, and Kaplan-Meier analysis. The quality assessment of the included studies was conducted using the Joanna Briggs Institute tools.

Results: This systematic review yielded 59 studies, comprising 186 SGIC cases. Most of cases involved the parotid gland of male patients around 60 years old. Lesions predominantly exhibited noninvasive growth, an intercalated duct phenotype, and minimal pleomorphism. Most of the patients did not develop recurrent or metastatic disease, indicating a good prognosis. However, male sex, invasive lesions, adjuvant treatments, high-grade lesions, as well as lymph node or distant metastasis negatively affected the survival rates. Overall SGIC cases showed S100, mammaglobin, SOX10, AR, CK7, p63, calponin, CK14, SMA, and p40 positivity and a low Ki67 index. Common molecular alterations included NCOA4-RET, TRIM33-RET, and TRIM27-RET fusions, and HRAS, PIK3CA, and BRAF V600E mutations.

Conclusion: SGIC is a histopathologically and molecularly heterogeneous lesion with an overall excellent prognosis. The presence of invasive lesions, as well as lymph node or distant metastasis, has emerged as one of the most critical prognostic factors in SGIC patients.

Background: Oncocytoma is a primary benign epithelial neoplasm comprising less than 2% of salivary tumors with a low recurrence rate.

Methods: A systematic review of documented case reports and case series of oncocytomas is presented. Searches from different databases were performed to identify articles from 1956 to 2024. The variables included were gender, age, symptoms, duration time before diagnosis, type of gland, histological features, special or immunohistochemical evaluation, treatment, follow-up, recurrence, and relation with a medical condition or syndrome.

Results: Of the 147 cases reported, 53.1% affected females, and 46.9% were in males. The average age was 58.7 years, and the mean size was 2.3 cm. The most common clinical presentation was swelling (92.6%) and 66.7% were asymptomatic. The parotid was the most commonly affected gland with 66% of cases, the submandibular gland with 23.3%, and the minor salivary glands with Phosphotungstic acid-hematoxylin (PTAH) was the most common special stain used in 36.7%, followed by a combination with Periodic acid-Schiff (PAS) with and without diastase in 26.6%. Excisional biopsy was the most common treatment in 38.1% followed by superficial parotidectomy in 32.7%. Follow-up was 34.7 months on average. Bilateral oncocytomas were found in 4.8% with a 6 to 1 female-male proportion. Recurrence was found in 2.7% and association with Birt-Hogg-Dube (BHD) syndrome was 8.2%.

Conclusion: Salivary oncocytoma is a rare epithelial neoplasm with nonspecific clinical presentations. Diagnosis can be suspected on cytology and confirmed by histologic examination. The lesion has an indolent clinical course and most of the reported cases did not recur. There seems to be an association between bilateral oncocytomas and females and a low but interesting association with BHD. Overall, this review serves to better highlight the features of this rare benign neoplasm.

Objective: To evaluate the influence of MMR complex protein immunoexpression on disease-free survival in oropharyngeal SCC treated non-surgically.

Materials and methods: 85 cases of oropharyngeal SCC diagnosed and treated at the Ceará Cancer Institute were surveyed, from which clinical-pathological data and paraffin blocks of incisional biopsies were retrieved for immunohistochemical reaction for MSH2, MSH6, PMS2, MLH1 and p16. Disease-free survival was calculated and Kruskal-Wallis and Friedman/Dunn tests, chi-square and Fisher's exact, Log-Rank Mantel Cox and Cox regression were performed.

Results: In p16- tumors, loss of MSH2 expression was associated with shorter disease-free survival (p = 0.035) and mean MSH6 expression was significantly higher than MSH2 (p = 0.001). Loss of MSH2 expression in p16 + tumors was associated with longer disease-free survival compared to p16- tumors. Imbalance in the MSH6/MSH2 ratio in p16 + tumors was associated with longer survival compared to p16- tumors. MLH1/PMS2 imbalance was significantly higher in p16 + with recurrence (p = 0.003). Low MSH2 immunoexpression increased the risk of relapse by 9.10 times (CI95% 1.99 to 83.06).

Conclusion: Microsatellite instability in oropharyngeal SCC is demonstrated by the association between loss of protein expression and its heterodimer imbalance with disease-free survival. It was demonstrated that the imbalance of the MMR complex can consequently lead to resistance to treatment and a decrease in disease-free survival in p16 + oropharyngeal SCC tumors.

Purpose: BSND is a chloride channel subunit that is expressed in the normal salivary gland. We aimed to validate the utility of BSND immunohistochemistry in the differential diagnosis of oncocytic salivary gland neoplasms.

Methods: BSND immunohistochemistry was performed in a retrospective cohort of 93 salivary gland lesions, enriched with tumors with oncocytic features and histologic variants of mucoepidermoid carcinoma (MEC).

Results: All oncocytomas (n = 18) showed diffuse membranous BSND immunopositivity. Warthin tumors (n = 18) were also positive for BSND, but the staining pattern was patchy cytoplasmic and membranous in 10-25% of tumor cells. Using a threshold of 10% BSND-positive cells, all Warthin tumors were positive, while none of Warthin-like MECs or non-MEC salivary tumors were positive. Applying the same 10% positivity criterion, two oncocytic MECs were positive for BSND. The percentage of BSND staining in oncocytic MECs was up to 20%. In contrast, BSND was diffusely positive in oncocytomas with a median percentage of positivity of 95% (range: 40 - 100%). Therefore, a higher threshold of > 20% BSND-positive cells may be considered when differentiating between oncocytoma and oncocytic MEC.

Conclusion: BSND immunohistochemistry is a potentially useful diagnostic marker for salivary gland neoplasms, especially oncocytic and Warthin-like MECs. A threshold of ≥ 10% positivity can differentiate Warthin tumors from Warthin-like MECs, whereas > 20% positivity can be effective for separating oncocytomas from oncocytic MECs.

A 41-year-old woman presented with a facial asymmetry in the mental region and a painful, well-circumscribed, tender mass in the right lower buccal vestibule, associated with extensive ill-defined bone rarefaction with subtle cortical bone resorption. Microscopically, a proliferation of bland spindle cells interspersed with collagen fibers and prominent staghorn-like blood vessels was observed. Immunohistochemical analysis revealed strong positivity for CD34, Bcl-2, CD99, and STAT-6, confirming the diagnosis of Solitary Fibrous Tumor (SFT). Conservative surgical enucleation was performed, and 4 years later, recurrence was observed with extensive bone involvement and moth-eaten margins resembling a malignant tumor. SFT is a distinctive spindle cell tumor of fibroblastic differentiation, characterized by prominent branching staghorn-like vessels and a specific NAB2::STAT6 gene fusion. We herein contribute with a central SFT of the mandible with recurrent behavior and radiographic appearance suggesting malignancy.