Head & Neck Pathology最新文献

Heterotopia, the occurrence of specific tissues in ectopic sites during embryogenesis, includes the presence of salivary gland tissue in unusual locations. Salivary gland neoplasms arising from heterotopic sites are rare. Secretory Carcinoma (SC) is a rare salivary gland carcinoma characterized by ETV6-NTRK3 fusion gene, very rarely described in salivary gland heterotopia. Here a case of SC originating from salivary gland heterotopia in a neck lymph node is reported, together with a literature review.A 66-year-old male presented with a left neck mass. Imaging and fine needle aspiration cytology indicated a preliminary diagnosis of a benign/low-grade malignancy neoplasm.Following surgery (superficial parotidectomy and mass excision), histological examination revealed SC within an intranodal salivary heterotopia, confirmed by molecular analysis.Heterotopic salivary gland tissue (HSGT) is rare, and its association with neoplasms is even rarer. Tumours arising on HSGT, share histological similarities with those affecting orthotopic salivary glands. This unique case expands the understanding of SC occurrences on HSGT.

Purpose: This PRISMA-guided and PROSPERO-registered systematic review aimed to summarise the current knowledge on the characteristics (clinical, radiographic, and histopathological) and treatment options for segmental odontomaxillary dysplasia (SOD).

Methods: Descriptive studies, case series, and case reports were searched up to May 2024 in PubMed, Embase, Web of Science, SciELO, and the Cochrane Library databases. Statistical association analyses were performed on clinical variables, using chi-square tests.

Results: The 35 included studies detailed 60 SOD cases in patients with a mean age of 12 ± 9.6 years. 11. Males were more frequently affected than females (62% or 1.6:1 ratio). Most cases involved the right maxilla (55%) and presented facial asymmetry and/or unilateral swelling (78%). Three cases involved both maxillae and mandible; Skin alterations were reported in 50% of the cases. Intraoral alterations such as alveolar process enlargement and gingival hyperplasia were also frequently observed (84% and 58%, respectively). All patients presented tooth alterations and 1st and/or 2nd upper premolars were absent in 80% of the cases. Dense bone and altered trabecular patterns were frequently observed in radiographs. Histopathological exams commonly showed dense trabecular bone and hyperplasic gingival tissue. Only 33 cases reported the SOD treatment, which ranged from follow-up without intervention up to surgery and orthodontics. No significant associations were found between sex and facial asymmetry or continuous lesion growth (p > 0.05). Additionally, no associations were found between intraoral alterations or symptoms and continuous lesion growth (p > 0.05).

Conclusion: This review presents SOD epidemiological, clinical, radiographic and histopathological data. Evidence regarding treatment is scarce.

Background: HPV- associated squamous cell carcinoma (SCC) is uncommon in non-oropharynx sites and not well characterized. This study aims to investigate uncommon phenotypes of HPV-associated head and neck carcinoma, the prevalence and morphologic spectrum of HPV-associated SCC in the oral cavity, larynx and hypopharynx.

Method: P16 immunostaining and HPV E6/7 in situ hybridization (ISH) were performed on tissue microarrays comprised of SCCs from different anatomic sites: oropharynx (n = 270), hypopharynx (n = 52), oral cavity (n = 95) and larynx (n = 123). Tumors were classified as HPV-associated based on a positive E6/7 ISH testing. RNA sequencing was performed on several selected cases.

Result: 66% oropharynx SCCs (OPSCCs) were HPV-associated; all were p16/HPV testing concordant except one which was p16 negative. The p16-/HPV + OPSCC resembled similar gene expression signature with p16+/HPV + OPSCCs by transcriptome analysis. 6/95 (6%) oral cavity SCCs were HPV-associated, all from male patients and 5/6 (83%) arose from the floor of mouth. Morphologically, 3/6 (50%) showed keratinizing SCC and 5/6 (83%) demonstrated HPV-associated squamous dysplasia in adjacent mucosa. 1/123 (less than 1%) larynx SCCs and 0/52 hypopharynx SCCs were HPV-associated.

Conclusion: Although uncommon, p16 negative HPV-associated OPSCC can occur, emphasizing the importance of judicious HPV testing. The morphology of HPV-associated oral cavity SCCs may deviate from prototypic nonkeratinizing SCC, making them difficult to recognize. Presence of HPV-associated squamous dysplasia could serve as a morphologic clue.

Background: Papillary thyroid carcinoma (PTC) with fibromatosis/fasciitis-like/desmoid-type stroma is a rare subtype of PTC,characterized by two distinct components: a classic papillary carcinoma component and a spindle cell proliferationresembling fibromatosis or nodular fasciitis. This stromal component adds a unique dimension to the tumor'spathology, making diagnosis more challenging and potentially leading to misclassification.

Case presentation: We present a case of this rare entity which contributes to the growing body of literature by providing additionalmolecular data, which may shed light on the biological behaviour of the fibromatosis-like stroma and its relationshipwith the papillary carcinoma component. This case underscores the importance of recognizing this subtype, as itsspindle cell proliferation could be mistaken for a separate neoplasm or reactive process, resulting in inappropriatemanagement.

Conclusions: Increased awareness of this entity will help pathologists avoid diagnostic pitfalls and guide clinicians in developingmore precise treatment plans, addressing both the malignant papillary component and the unique stromal features.This case further enriches the current understanding of the heterogeneity of PTC and highlights the need fortailored management strategies in rare subtypes.

Mesenchymal neoplasms of the thyroid gland are exceptionally rare accounting for less than 0.5% of all intrathyroidal tumors with hemangiomas comprising merely 6% of them. The clinicopathologic characteristics of two additional examples of thyroid hemangioma together with a thorough review of the pertinent literature are presented. A 62-year-old man and an 18-year-old woman presented with asymptomatic, soft-to-palpation, mobile nodules of the right thyroid lobe classified as TI-RADS 5 and TI-RADS 4, respectively, on ultrasound imaging. Microscopically, lesions featured a circumscribed, unencapsulated, lobular proliferation of variably-sized, congested, vascular channels lined by a single layer of flattened, cytologically bland endothelial cells, together with interspersed residual follicles. Vascular endothelial cells were strongly positive for CD31, CD34 and ERG, and negative for pancytokeratin AE1/AE3, TTF1, and PAX8. A diagnosis of cavernous hemangioma was rendered in the clinical setting of Hashimoto thyroiditis and follicular adenoma, respectively. Following inclusion of the current cases, a total of 53 intrathyroidal hemangiomas were identified in the literature with a patient mean age of 48.9 years (range = 0.17-84) and a slight female predilection (F:M = 1.4:1). A proclivity for the right thyroid lobe (59.6%) was noted with the striking majority of cases exhibiting features of cavernous hemangioma (95.2%). Prognosis is favorable and surgical resection is considered curative. The occasionally alarming clinical presentation in conjunction with absence of pathognomonic imaging features and limited diagnostic accuracy of FNA cytopathology for such lesions renders surgical intervention necessary for definitive diagnosis of intrathyroidal hemangiomas and exclusion of other epithelial and non-epithelial pathologic entities.

Acinic cell carcinoma (ACC) is a salivary gland malignancy most commonly arising in the parotid gland. It is the second most common salivary gland carcinoma in children. It is characterised by neoplastic cells with acinar morphology arranged in variably architectural features, including solid, cystic or follicular patterns. Conventional ACC typically has a low-grade clinical pattern, whereas high grade ACC exhibits a more aggressive clinical course with distant metastasis a high mortality rate. Most ACCs are characterised by gene rearrangements in the NR4A3 gene. Here, we present a case of high grade ACC lacking NR4A3 gene translocation but harbouring a hitherto undescribed SYN2::PPARG gene fusion of uncertain clinical significance. Clinical, radiological, histological and genomic features of the case are discussed alongside a brief review of the literature.

Squamous cell carcinoma (SCC) is one of the most common malignancies involving the parotid gland, but it has been recognized that the vast majority of parotid SCC represents metastases, especially from the ipsilateral facial skin. Bona fide primary SCC of the parotid is so rare that it is unclear whether it truly exists at all. We sought to molecularly characterize cases diagnosed as primary parotid gland SCC to see if they possess a unique genetic makeup.We identified cases in our archives which had been diagnosed as primary SCC of the parotid gland. In all cases, metastatic disease was excluded by a thorough history and physical examination. Cases with histologic evidence of a precursor neoplasm (e.g., carcinoma ex-pleomorphic adenoma) were also excluded. Targeted next-generation sequencing (NGS) was attempted on all cases.Six cases diagnosed as primary parotid SCC were identified, arising in 4 males and 2 females ranging from 8 to 73 years (mean, 51.8 years). All cases exhibited keratinization and unequivocal invasion. Four of 6 appeared to be arising from cystically dilated ducts. Five of 6 exhibited well-developed cellular atypia; the remaining case, while cytologically bland, demonstrated perineural invasion. Targeted NGS was successful in 5 of 6 cases. Two SCC harbored several mutations in a mutational profile reminiscent of SCCs seen in other organs. One case harbored YAP1::MAML2, a fusion previously reported in porocarcinoma and other neoplasms. One case harbored IRF2BP2::RUNX2, and presumably represents keratocystoma or SCC ex-keratocystoma. Finally, one case an increase of C > T mutations consistent with ultraviolet damage, suggesting that this case represented a cryptic metastasis from cutaneous SCC.Our analysis did not confirm a unifying genetic signature for purported primary parotid SCC. Indeed, our findings suggest that true primary parotid gland SCC is even rarer than already believed. In our 5 cases with results, NGS findings demonstrated that one was likely a keratocystoma, one a cryptic metastasis from a cutaneous SCC, and one a porocarcinoma, either metastatic or primary. The two remaining cases had complex genotypes reminiscent of SCCs from other sites. This may be the signature of genuine parotid primary SCC, but metastasis from an SCC from another organ cannot be excluded. Accordingly, a diagnosis of primary parotid gland SCC should be viewed with skepticism.

Background: Primordial odontogenic tumor (POT) is a rare benign tumor arising from odontogenic epithelium and ectomesenchyme. It typically presents in children and young adults. POT is often found in the posterior mandible and frequently presents as asymptomatic swelling. A systematic review of the literature was conducted to comprehensively analyze the clinicopathologic features of this rare entity over the past ten years.

Methods: A systematic review of POT case series and case reports following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) statement guidelines was performed. Data on demographics and clinical characteristics, including age, sex, clinical presentation, duration of the lesion, location, and radiographic and histological features, were extracted. A quantitative description of immunohistochemical studies reported in the literature was also performed. Treatment, a follow-up period, and recurrence were collected for analysis.

Results: This review included 26 studies involving 36 POT cases. Patients often presented with asymptomatic swelling at a median age of 12 years, with a male-to-female ratio of 1.18:1. The posterior mandible was the most commonly affected site, while three cases were noted in the anterior region exclusively in the maxilla. Most lesions appeared as unilocular radiolucencies with well-defined borders; however, five cases exhibited fine trabeculation or radiopacities. The primary histological features observed in POT included ectomesenchymal stroma lined by columnar cells with nuclear reverse polarity. Most cases were treated through enucleation and curettage (50.0%), followed by tumor excision (36.1%). Only one case demonstrated recurrence among the 29 cases with known follow-up information.

Conclusion: This study offers comprehensive and current descriptive data on POT, enhancing the ability of clinicians and pathologists to accurately identify these rare lesions and thereby avoid misdiagnosis and inappropriate management.

Background: Invasive fungal rhinosinusitis (IRFS) is a rare but highly fatal disease. The two primary groups of pathogens, Mucorales and Aspergillus, require different treatments and have distinct prognoses.

Purpose: This study aimed to analyze the histopathological features of IFRS.

Methods: We conducted a retrospective study involving 57 IFRS cases. Demographic and comorbid characteristics were obtained from clinical records. Two pathologists independently examined the histopathological features using H&E, PAS, and GMS-stained slides. Fungal groups were identified with PCR under the guidance of histopathology.

Results: The mean age of IFRS was 58.9 ± 13.4. The male-to-female ratio was 1.4:1. 100% of cases had diabetes comorbidity. Mucorales, Aspergillus, and other fungi were found in 61.4%, 33.3%, and 5.3% of cases, respectively. No Aspergillus and Mucorales co-infections were detected. Histopathology and PCR results were strongly concordant in classifying pathogens (Cohen's kappa = 84.2%, 95% CI 60.1% - 100%, p < 0.001). Mucormycosis exhibited higher rates of extensive necrosis and vascular invasion, and lower rates of pigment and spore presence than the non-Mucormycosis group (p < 0.001, p = 0.01, p = 0.02, p = 0.03, respectively). Extensive necrosis and vascular invasion were statistically significantly correlative (OR = 13.03, 95% CI 2.62-64.75, p = 0.002).

Conclusions: IFRS predominantly affects older adults and males. Histopathology is a reliable method for differentiating between Mucorales and Aspergillus. When extensive necrosis is detected, it is critical to investigate for vascular invasion carefully. The vascular invasion, degree of necrosis, pigments, and spores are valuable factors for distinguishing fungal agents of IFRS.

Purpose: Evaluate the immunohistochemical expression of the ING3 in actinic cheilitis and squamous cell carcinoma of the lower lip.

Methods: Forty-five specimens of actinic cheilitis and 48 specimens of squamous cell carcinoma of the lower lip were submitted to immunohistochemical detection of ING3. The protein expression in different cellular sublocations was compared between the two groups, and associations with the clinicopathological variables were analyzed. A significance level of 5% was adopted for all tests.

Results: Deaths were significantly more frequent in tumors with a high histopathological risk score (p < 0.05). In actinic cheilitis, significant differences were found in the nucleus-cytoplasmic expression of ING3 and expression restricted to the cytoplasm with binary histopathological grading (p < 0.05). In squamous cell carcinoma of the lower lip, there was no statistically significant difference when comparing ING3 expressions with clinical and morphological parameters (p > 0.05). Nucleo-cytoplasmic ING3 expression was significantly lower in squamous cell carcinoma of the lower lip when compared to actinic cheilitis (p < 0.05) and the expression restricted to the cytoplasm was significantly higher in squamous cell carcinoma of the lower lip (p < 0.05).

Conclusion: The results of this study suggest that there is a marked decrease in the nuclear expression of ING3 as malignant progression occurs, indicating an impaired tumor suppressor function of this protein in actinic cheilitis and squamous cell carcinoma of the lower lip.