Head & Neck Pathology最新文献

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.

Purpose: Accuracy in the diagnosis of HPV-associated oropharyngeal carcinoma (OPSCC) of a rapid, low-cost lateral flow immunochromatographic assay for detecting E6 oncoprotein of HPV-16 and HPV-18 was previously evaluated in a small pilot study. This cross-sectional study aimed to assess on a large case series the sensitivity and specificity of E6 oncoprotein as a diagnostic marker for HPV-associated carcinogenesis in OPSCC.

Methods: 137 consecutive patients with histologically confirmed OPSCC were enrolled in two hospitals in Northeast Italy. HPV status was determined by PCR for HPV DNA and p16^INK4a immunohistochemistry on primary tumor biopsies. An OPSCC was defined as HPV-associated when double positive for high-risk HPV-DNA and p16^INK4a overexpression in primary lesion. Cytological samples from primary tumors and metastatic lymph nodes were obtained and tested for HPV16/18 E6 oncoproteins using the lateral flow immunochromatographic assay, which requires between 90 and 120 min to provide a result. Diagnostic performances were calculated as percentage with confidence intervals (CI).

Results: Of the 137 OPSCC cases, 68 (49.6%) were HPV-associated, testing positive for both high-risk HPV-DNA and p16^INK4a, with HPV16 predominating (82.4%). An average waiting time of 22 days was observed to obtain the results of p16^INK4a and HPV-DNA after primary lesions biopsy. In patients with HPV16/18-associated OPSCC, the HPV16/18 E6 oncoprotein was detected in 59 out of 60 cytological samples from the primary lesion (sensitivity: 98.3%; 95% CI: 91.1-100%) and in 45 out of 51 cytological samples from lymph node metastases (sensitivity: 88.2%; 95% CI: 76.1-95.6%). The E6 oncoprotein assay showed a specificity of 100% in both primary tumors and lymph node metastases.

Conclusion: The low-cost lateral flow immunochromatographic assay for detecting HPV16/18 E6 oncoproteins confirmed high accuracy for identifying HPV-associated OPSCC, particularly in primary tumors, suggesting its potential as a valuable diagnostic tool in clinical practice. Its rapid diagnostic capability could significantly accelerate the process of treatment decision-making, enhancing the timely management of patients.

Aim: To characterize the immunohistochemical expression of MDM2, Bcl-2, SATB2 and Ki-67 in histological variants of unicystic ameloblastoma (UA).

Methodology: Following the ethical approval, forty (40) patients with unicystic ameloblastoma were retrieved from the archives and subjected to immunohistochemistry (IHC). Sociodemographic and clinical data were also retrieved. The results were entered into a Microsoft Excel spreadsheet and analyzed using SPSS software.

Results: Human tooth germs, which served as the control, showed moderate expression of Bcl-2 and MDM2 with slight proliferative activity in ameloblasts and moderate expression of SATB2 in ectomesenchyme and odontoblasts. Luminal UA (Type 1) showed low Ki-67 index and negative to mild Bcl-2 and MDM2 expression, whilst Type 1.2 (luminal and intraluminal), Type 1.2.3 (luminal, intraluminal and mural), and Type 1.3 (luminal and mural), including the recurrent cases, showed moderate to intense expression with high mean Ki-67 index. The difference between the study groups was statistically significant (p value < 0.001). No expression of SATB2 was noted in any histological variant of UA. Furthermore, no significant differences were noted in age, gender, site and location between the groups.

Conclusion: In contrast to luminal variant of UA, mural±intraluminal variants and recurrent cases demonstrate higher expression of Bcl-2 and MDM2 with higher mean Ki-67 index. It may thus be prudent to provide aggressive treatment for cases, not just with mural follicles but also for the patients with intraluminal plexiform proliferation, to prevent recurrence and improve patient outcomes.

Our goal for medicine is to make zero mistakes, yet the reality is that mistakes are an unfortunate part of medical practice. And when it comes to surgical pathology, it is a special case where the diagnostic "bottom line" is provided starkly and directly for all to see in the final diagnosis of the pathology report. When this diagnosis is wrong, particularly when it has serious adverse consequences for the patient, the resulting physical, mental, and emotional effects on patient, provider, pathologist, and health care system can be extremely serious. Head and neck surgical pathology, based on large second review-type studies, is a subspecialty area with average rates of major diagnostic error, but with potential for severely negative impacts on patients. Studies have shown between 1% and 7% major error rates for head and neck practice. How then, as the pathologist, can we react to and manage things when we have made a serious diagnostic mistake? Through personal experience over more than two decades, the hard-won answer is through extreme ownership and a focus on the needs of the patients, who, in the words of William J. Mayo, should have their "needs come first". The emotional impact on us as pathologists and on the clinicians we work with should also be acknowledged and managed. This article will serve as a thorough and open examination of these mistake scenarios and, focusing specifically on diagnostic errors, serve as a practical guide for what you can do, moving forward, to "make things right" to the best of your ability.

Context: Myoepithelial carcinoma (MECA) represents < 1% percent of salivary gland (SG) tumors with a mean age of 55 years. These tumors can arise de novo or in association with pre-existing pleomorphic Adenoma (PA). The cytologic features of MECA overlap with other SG neoplasms including the more common benign entities like PA and myoepithelioma and can pose a diagnostic challenge.

Design: A database search for MECA was performed spanning 10 years. 3 cases qualified with available cyto-histologic correlation. All were morphologically MECA with one case diagnosed as MECA ex-PA. The cases were subjected to a comprehensive immunohistochemical and molecular evaluation (Case#1 has been previously reported and published in head and neck pathology in 2021).

Results: A comparative analysis of these cases is presented in Table 1. All three cases were initially diagnosed as PA on cytology. On review of cytology slides, presence of metachromatic stromal fragments and bland myoepithelial cells was found to be the most common diagnostic pitfall. S100 was positive in all cases while myosin, p63, and GFAP were variably positive. Molecular analysis revealed novel, previously undescribed mutations in the three cases. Additionally, two of three cases expressed PD-L1, suggesting a role for immunotherapy in treatment.

Conclusions: Cytomorphology of MECA is poorly described in literature and can pose a diagnostic challenge due to overlapping features with salivary gland benign neoplasms. A conclusive diagnosis on cytology is often not possible. However, a high cellularity, predominant oncocytoid/ myoepithelial cell population on smears and cell block, along with a strong clinical and radiologic suspicion for malignant salivary gland tumor, should alert the cytopathologist and help avoid an erroneous benign diagnosis on cytology.

Mast cell sarcoma (MCS) is an extremely rare and aggressive malignancy primarily affecting bones, with limited literature associating it with neuroendocrine marker expression. This report presents a rare case of MCS arising in the maxillary sinus and gingiva. A 74-year-old man presented with a progressively enlarging ulcer on the right-sided upper gingiva. Magnetic resonance imaging revealed a 3.4 cm tumor on the floor of the right maxillary sinus. The patient underwent an inferior maxillectomy and right-sided neck dissection. Microscopically, the tumor consisted of monotonous round cells with oval nuclei, vesicular chromatin, inconspicuous nucleoli, and brisk mitoses. A panel of immunohistochemical stains was initially applied to exclude common sinonasal undifferentiated neoplasms, such as sinonasal undifferentiated carcinoma, melanoma, rhabdomyosarcoma, Ewing sarcoma, and lymphoma. The tumor cells showed patchy staining for INSM1 and synaptophysin, but were negative for AE1/AE3, CAM5.2, p40, chromogranin, S100, HMB45, NKX2.2, desmin, CD45 (LCA), CD3, and CD20, with intact INI1 and BRG1 expression. No specific diagnosis could be rendered based on the staining results, leading to consideration of other rare malignancies. Additional staining revealed positivity for CD117, mast cell tryptase, CD13, CD33, CD43, and CD68, confirming the MCS diagnosis. Molecular testing for KIT mutation was negative. Subsequent bone marrow biopsy demonstrated infiltration of atypical mast cells, which led to a diagnosis of mast cell leukemia. Despite high-dose chemotherapy, the patient died three months after the initial diagnosis. The undifferentiated epithelioid morphology and unusual aberrant neuroendocrine marker expression posed significant diagnostic challenges. The major differential diagnoses were discussed in this report.