Worth Syndrome-Patient Report, Diagnostic Work-Up, and Surgical Management of a Rare Craniofacial Entity.

Worth syndrome is a rare genetic bone disorder that often presents with cortical thickening of the mandible and an increase in mandibular width. The authors report the preoperative considerations in a young female with Worth syndrome, operative planning, and successful mandibular reduction using cutting guides.

Oral cancer screening knowledge and practices among dental professionals at the University of Toronto.

INTRODUCTION: Opportunistic oral cancer screening during visits to the dentist is a non-invasive and accessible option for detection of pre-malignant lesions and early-stage malignancies. The objective of this study was to investigate the knowledge, practices, and attitudes towards oral cancer screening among dentists. METHODS: A 42-item survey was sent to 650 dental professionals affiliated with the University of Toronto. Data regarding training/practice characteristics, knowledge of oral cavity cancer, current screening practices, attitudes towards screening, and remuneration were collected. RESULTS: Ninety-one dentists responded. Most obtained their dental degree from Canada (71.4%) and were practicing in large urban centers (87.9%). Most dentists correctly identified the oral tongue (87.8%) and floor of mouth (80%) as the two of most common sites of oral cavity cancer but only 56% correctly identified the most common presentation. 91% performed intra/extra oral examinations at every patient visit. Only 9.9% of dentists discussed the risk factors of oral cancer and 33% were not familiar with resources for smoking cessation and alcohol abuse. International medical graduates were more likely to discuss risk factor management than Canadian medical graduates (p < 0.01). Over 80% of dentists referred to a specialist when a suspected lesion was found. The greatest barrier for oral cancer screening was lack of time. Almost all dentists (98.8%) reported that their screening practices do not differ depending on the patient's insurance status and 63.8% reported compensation would not influence their decision to perform oral examinations. CONCLUSION: Most dentists have a good knowledge of the presentation and risk factors associated with oral cavity cancer. Most dentists perform screening with every patient, with no influence from compensation and insurance status. Dentists are therefore an excellent first contact for oral cavity cancer screening for the general public and for high-risk populations.

An Atypical Case of Mucocutaneous Blastomycosis in the Greater Toronto Area.

Blastomycosis is an uncommon infection caused by Blastomyces dermatitidis. While management is fairly straightforward, diagnosis can be quite challenging. We describe a case of a healthy 37-year-old man who presented with progressive mucocutaneous lesions, without lung or other systemic involvement. Treatment with itraconazole resulted in complete resolution of signs and symptoms. This case showcases the variety of blastomycosis clinical presentation and the importance of blastomycosis in the differential diagnosis of verrucous and papillomatous mucocutaneous lesions.

Regenerative potential of platelet concentrates in chronic oral mucosal lesions.

Chronic oral mucosal diseases (COMDs) represent a significant challenge for clinicians and patients. They are commonly associated with chronic pain and negative effects on healing and patient's quality of life. Regenerative medicine including the use of biological autologous blood-derived substances (e.g., platelet concentrates [PCs]), has been reported to improve healing and reduce pain in orthopedic and maxillofacial surgeries as well as chronic oral mucosal diseases. In this review, we aim to describe the different types of PCs and their applications in the management of COMDs such as lichen planus, mucositis, pemphigus vulgaris, mucous membrane pemphigoid, and plasma cell mucositis, in terms of healing potential, pain control, and quality of life. Overall, PC applications seem to enhance healing and reduce pain in patients with COMDs. However, due to the small sample size and the lack of standardized clinical trials, further research is required to support these findings.

Oropharyngeal Cancer Staging Health Record Extraction Using Artificial Intelligence.

Importance: Accurate, timely, and cost-effective methods for staging oropharyngeal cancers are crucial for patient prognosis and treatment decisions, but staging documentation is often inaccurate or incomplete. With the emergence of artificial intelligence in medicine, data abstraction may be associated with reduced costs but increased efficiency and accuracy of cancer staging. Objective: To evaluate an algorithm using an artificial intelligence engine capable of extracting essential information from medical records of patients with oropharyngeal cancer and assigning tumor, nodal, and metastatic stages according to American Joint Committee on Cancer eighth edition guidelines. Design, Setting, and Participants: This retrospective diagnostic study was conducted among a convenience sample of 806 patients with oropharyngeal squamous cell carcinoma. Medical records of patients with staged oropharyngeal squamous cell carcinomas who presented to a single tertiary care center between January 1, 2010, and August 1, 2020, were reviewed. A ground truth cancer stage dataset and comprehensive staging rule book consisting of 135 rules encompassing p16 status, tumor, and nodal and metastatic stage were developed. Subsequently, 4 distinct models were trained: model T (entity relationship extraction) for anatomical location and invasion state, model S (numerical extraction) for lesion size, model M (sequential classification) for metastasis detection, and a p16 model for p16 status. For validation, results were compared against ground truth established by expert reviewers, and accuracy was reported. Data were analyzed from March to November 2023. Main Outcomes and Measures: The accuracy of algorithm cancer stages was compared with ground truth. Results: Among 806 patients with oropharyngeal cancer (mean [SD] age, 63.6 [10.6] years; 651 males [80.8%]), 421 patients (52.2%) were positive for human papillomavirus. The artificial intelligence engine achieved accuracies of 55.9% (95% CI, 52.5%-59.3%) for tumor, 56.0% (95% CI, 52.5%-59.4%) for nodal, and 87.6% (95% CI, 85.1%-89.7%) for metastatic stages and 92.1% (95% CI, 88.5%-94.6%) for p16 status. Differentiation between localized (stages 1-2) and advanced (stages 3-4) cancers achieved 80.7% (95% CI, 77.8%-83.2%) accuracy. Conclusion and Relevance: This study found that tumor and nodal staging accuracies were fair to good and excellent for metastatic stage and p16 status, with clinical relevance in assigning optimal treatment and reducing toxic effect exposures. Further model refinement and external validation with electronic health records at different institutions are necessary to improve algorithm accuracy and clinical applicability.

Clinical outcomes of oral epithelial dysplasia managed by observation versus excision.

IMPORTANCE: Oral potentially malignant disorders, including oral epithelial dysplasia (OED), are a group of conditions with an increased risk of progression to oral cancer. Clinical management of OED is challenging and usually involves monitoring with repeated incisional biopsies or complete surgical excision. OBJECTIVE: To determine if complete surgical excision of OED impacts malignant transformation or improves survival outcomes in lesions that progress to malignancy. DESIGN: A retrospective review of all patients diagnosed with OED between 2009 and 2016 was completed, and patients were followed until January 2022 for disease course and outcomes. RESULTS: Hundred and fifty-five cases of OED met the inclusion criteria. Among the 61 lesions managed by observation, 15 progressed to cancer. Among the 94 lesions managed by surgical excision, 27 progressed to cancer. The overall malignant transformation rate was 27%, with an annual rate of 6.4%. Surgical excision with or without histologically negative margins did not decrease malignant transformation but was associated with lower oncologic staging at the time of diagnosis and improved survival. CONCLUSIONS AND RELEVANCE: Surgical excision of OED with or without negative margins did not reduce the rate of transformation to oral cancer but resulted in lower oncologic staging at diagnosis, leading to improved patient outcomes. Our results support the implementation of more extensive tissue sampling to improve cancer diagnosis and patient outcomes.

Oral soft-tissue biopsy: an overview.

Proper management of an oral mucosal lesion begins with diagnosis, and the gold standard for diagnosing disease, oral or otherwise, is tissue biopsy. The oral environment, which is moist and confined, poses challenges for collecting a viable tissue sample that will be suitable for diagnosis. These challenges are further compounded by the myriad of biopsy techniques and devices now available. In addition, certain oral subsites are subject to diagnostic pitfalls that necessitate modifications of technique. This article provides an overview of the oral soft-tissue biopsy and highlights some potential pitfalls.

EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland.

Hyalinizing clear-cell carcinoma (HCCC) is a rare, low-grade salivary gland tumor with distinctive clear-cell morphology and pattern of hyalinization as well as focal mucinous differentiation. However, histological overlap exists with other salivary gland tumors, such as epithelial-myoepithelial carcinoma (EMCa), salivary myoepithelial carcinoma, and mucoepidermoid carcinoma (MEC). The potential relationship between HCCC and its morphological mimics has not been yet investigated at the genetic level. In this study, we conducted a molecular analysis for the presence of rearrangements in MAML2, commonly seen in MECs, and EWSR1, involved in "soft tissue myoepithelial tumors" (SMET) by fusion with POU5F1, PBX1, or ZNF444. Fluorescence in situ hybridization (FISH) was performed on 23 HCCC cases for abnormalities in MAML2, EWSR1, FUS, POU5F1, PBX1, and ZNF444. FISH for MAML2 was negative in all cases (0 of 14), including those with mucinous differentiation (0 of 7). An EWSR1 rearrangement was identified in 18 of 22 HCCCs (82%), while no break-apart signals were seen in FUS, POU5F1, PBX1, or ZNF444. 3'RACE on an EWSR1 rearranged HCCC identified an EWSR1-ATF1 fusion, which was confirmed by RT-PCR. ATF1 involvement was further confirmed by FISH analysis in 13 of 14 EWSR1-rearranged HCCC cases (93%). In contrast, all control cases tested, including among others 5 EMCa and 3 MEC with clear cells, were negative for EWSR1 and ATF1 rearrangements. The presence of EWSR1-ATF1 fusion in most HCCCs reliably separates these tumors from its histological mimics. The distinction from MEC is particularly important, as conventional MEC grading schemes overgrade these indolent HCCCs, potentially impacting on treatment.

Oral melanosis after tyrosine kinase inhibition with Imatinib for chronic myelogenous leukemia: report of a case and review of the literature.

Dermatologic manifestations from therapy with imatinib are well known and frequently include hypopigmentation, and less commonly, hyperpigmentation. There have been few reports of oral hyperpigmentation. We present a case of palatal melanosis related to imatinib therapy for chronic myelogenous leukemia. This case is reported to add to the sparse literature concerning mucosal reactions related to this medication.

Referred Orofacial Pain as an Initial Symptom of Distant, Nonmetastatic Cancer: Report of a Case and Review of the Literature.

Referred orofacial pain as the first symptom of an otherwise silent distant, nonmetastatic cancer has been reported, but there is sparse literature on the subject. Referred pain may not be considered in the orofacial pain differential diagnosis because of its rarity; however, this may delay a cancer diagnosis. The authors present a case report and a review of the English literature. Peer-reviewed publications were identified through a systematic search of MEDLINE, Embase, and Cochrane CENTRAL. Historic cases were reviewed, and available data regarding demographics, pain characteristics, treatment, cancer diagnosis, and outcome were extracted. Thirty-seven cases were identified. All cancers were intrathoracic. The average age was 54.1 years with a slight female predominance (3:2). Common pain characteristics were (1) diffuse location affecting the ear (76%), jaw (46%), and temple (30%); (2) constant duration (65%); (3) aching quality (74%); (4) severe intensity (94%); and (5) associated systemic symptoms (68%) such as weight loss and digital clubbing. The average time from the onset of facial pain to seeking medical attention was 9 months, and the average time from seeking medication attention to cancer diagnosis was 8 months. Orofacial pain was often attributed to odontogenic (35%) or neuropathic (25%) causes, and treatments for these conditions were also common. The impact of referred orofacial pain on the cancer prognosis was not possible because of the nature of the reviewed studies (case reports with no comparison group). Cancer-associated referred orofacial pain as a first symptom is rare but should be considered in cases with intractable pain and associated systemic symptoms.

Identification of specific clinical risk factors associated with the malignant transformation of oral epithelial dysplasia.

BACKGROUND: Factors that increase the risk of malignant transformation of oral epithelial dysplasia (OED) are not completely elucidated. METHODS: A retrospective chart review was performed assessing risk factors for transformation of OED, and cancer staging for transformed cases at Sunnybrook Health Sciences Centre. RESULTS: Two-hundred four patients were diagnosed with OED, and 16.7% (34) underwent malignant transformation. Risk factors associated with transformation included: heavy tobacco smoking, excessive EtOH consumption, non-homogenous leukoplakia, size >200 mm2 , moderate dysplasia or greater than moderate, progression of dysplasia grades, and immunosuppression. Transformed cases followed for a dysplastic lesion were associated with a stage-I cancer diagnosis, and cancer cases with no prior biopsy were associated with a stage-IV diagnosis. CONCLUSIONS: In addition to commonly cited risk factors, immunosuppression was associated with malignant transformation, including the use of topical steroids. Analyzing risk factors can help clinicians define risk of progression in patients with OED.

Trigeminal neuralgia caused by intracranial epidermoid tumour: report of a case.

Trigeminal neuralgia is a recognized complication in patients with intracranial tumours affecting the trigeminal nerve. This case report describes an epidermoid tumour at the cerebellopontine angle in a middle-aged man with otherwise classical unilateral trigeminal neuralgia. The case highlights the difficulties of diagnosis and the importance of a multidisciplinary approach when trigeminal neuralgia occurs concurrently with a brain tumour.

Death, dying and bereavement: a survey of dental practitioners.

The dentist's role following the death of a patient in his/her practice has received little attention in the literature. This study determined the prevalence of death within a dental practice. It also investigated methods by which dentists supported grieving survivors, and how frequently dentists received formal bereavement education in dental school. A perceived need for training in death and dying was also investigated. A survey was mailed to 200 randomly selected general dental practitioners in Ontario, Canada. It was found that (1) the vast majority of respondents (86%) had experienced the death of a patient within the past 12 months; (2) support methods included sending sympathy cards (79.3%), sending flowers (34.5%), attending the funeral or wake (23%), or visiting/calling survivors (11.5%); (3) only 4% of respondents reported receiving formal bereavement education during dental school; and (4) 61% believed bereavement education should be included in the dental school curricula. While the majority of dentists in this study provided bereavement support and believed they could effectively comfort grieving persons, these dentists experienced significant stress when dealing with issues of death and bereavement. The stress may be explained by inadequate education and exposure to the issues of death and dying.

Using quantitative tissue phenotype to assess the margins of surgical samples from a pan-Canadian surgery study.

BACKGROUND: The purpose of this study was to use quantitative tissue phenotype (QTP) to assess the surgical margins to examine if a fluorescence visualization-guided surgical approach produces a shift in the surgical field by sparing normal tissue while catching high-risk tissue. METHODS: Using our QTP to calculate the degree of nuclear chromatin abnormalities, Nuclear Phenotypic Score (NPS), we analyzed 1290 biopsy specimens taken from surgical samples of 248 patients enrolled in the Efficacy of Optically-guided Surgery in the Management of Early-staged Oral Cancer (COOLS) trial. Multiple margin specimens were collected from each surgical specimen according to the presence of fluorescence visualization alterations and the distance to the surgical margins. RESULTS: The NPS in fluorescence visualization-altered (fluorescence visualization-positive) samples was significantly higher than that in fluorescence visualization-retained (fluorescence visualization-negative) samples. There was a constant trend of decreasing NPS of margin samples from non-adjacent-fluorescence visualization margins to adjacent-fluorescence visualization margins. CONCLUSION: Our results suggested that using fluorescence visualization to guide surgery has the potential to spare more normal tissue at surgical margins.

An actionable test using loss of heterozygosity in identifying high-risk oral premalignant lesions.

OBJECTIVES: To develop an actionable test using fluorescence capillary electrophoresis (FCE) to assess loss of heterozygosity (LOH) of histologically similar low-grade lesions (LGLs) to identify high-risk lesions for oral cancer progression. STUDY DESIGN: To determine the cutoffs of LOH, the FCE results of 52 surgical margin samples were used to compare with the existing LOH results from the previously validated 32 P-GE approach. Using the developed FCE workflow, an independent set of 102 LGLs with known progression status was used to determine the LOH molecular risk (MR) patterns and associated risk of progression. RESULTS: Using 65% cutoff LOH-FCE, the agreement of LOH-32 P-GE had an average of 82.3% (76.8-87.8). Compared with nonprogressors (n = 61), anatomic site and MR patterns (LOH at 9 p21, 3 p14, or 17 p13) were independent risk factors. High-risk profile of tongue and MR3 (LOH at 9 p21 and/or 3 p14 and 17 p13) was significantly associated with progression (hazard ratio [HR] 6.7; 95% confidence interval [CI] 2.6-17.6) with specificity of 98.4% at identifying progressors. CONCLUSIONS: We have developed an objective test using LOH to stratify the risk of LGLs. With further validation, it can be used in the clinical settings to provide clinicians additional information guiding the management of these lesions.

Oncocytic lipoadenoma of the parotid gland with sebaceous differentiation. Study of its keratin profile.

Oncocytic lipoadenomas of salivary gland are extremely rare tumors with only two previously reported cases. In this paper, we describe an additional example of oncocytic lipoadenoma showing sebaceous differentiation, a hitherto unreported occurrence. The tumor was encapsulated and measured 3 x 2.5 x 2 cm. Microscopically, the tumor comprised a mixture of oncocytes with "light" and "dark" cells intimately associated with mature adipose tissue. The oncocytes were positive for low molecular keratin, epithelial membrane antigen (EMA), and keratin 7, with only a small subgroup of cells expressing high-molecular-weight keratin, keratin 5/6, keratin 19, and p63. Terminally differentiated sebaceous cells were positive for EMA and keratin 14 only. Calponin and actins were negative, indicating a lack of myoepithelial cells in the tumor. The keratin profile and p63 expression of this oncocytic lipoadenoma suggest the presence of a dual cell population somewhat similar to the dual cell population described in some ultrastructural studies of pure salivary gland oncocytomas and may represent partial basal-cell differentiation. The presence and nature of a dual cell population in oncocytic neoplasms of salivary glands merit further investigation to confirm these observations.