DICER1 Mutations Define the Landscape of Poorly Differentiated Thyroid Carcinoma in Children and Young Adults: Case Report and Literature Review.

Poorly differentiated thyroid carcinoma (PDTC) is a rare malignancy, representing ~1% of all thyroid tumors. It is characterized by high-grade histologic features without the anaplastic characteristics observed in anaplastic thyroid carcinoma. Although rare in children and young adults, there is emerging evidence of clinical and genetic differences with PDTC in adults. We present a case of a 19-year-old female with a right thyroid lobe nodule classified as an EU-TIRADS 5 lesion. Subsequent FNAC showed a cellular aspirate of solitary cells and scant microfollicles with variable nuclear irregularities, which was designated a Bethesda class IV lesion. Thyroidectomy revealed histopathological features consistent with PDTC, including solid/trabecular growth, increased mitotic activity, central necrosis, and extensive vascular invasion. Molecular analysis identified germline and somatic DICER1 mutations in the absence of other established driver mutations of PDTC. This case report describes the fourth reported patient with a PDTC and germline DICER1 mutation. Our findings contribute to a limited body of literature on pediatric/young adult PDTC cases and highlight the pivotal role of DICER1 mutations. Emerging evidence suggests that pediatric PDTC may exhibit unique clinical and genetic characteristics, prompting further research into its molecular profile.

A deep learning approach for radiological detection and classification of radicular cysts and periapical granulomas.

OBJECTIVES: Dentists and oral surgeons often face difficulties distinguishing between radicular cysts and periapical granulomas on panoramic imaging. Radicular cysts require surgical removal while root canal treatment is the first-line treatment for periapical granulomas. Therefore, an automated tool to aid clinical decision making is needed. METHODS: A deep learning framework was developed using panoramic images of 80 radicular cysts and 72 periapical granulomas located in the mandible. Additionally, 197 normal images and 58 images with other radiolucent lesions were selected to improve model robustness. The images were cropped into global (affected half of the mandible) and local images (only the lesion) and then the dataset was split into 90% training and 10% testing sets. Data augmentation was performed on the training dataset. A two-route convolutional neural network using the global and local images was constructed for lesion classification. These outputs were concatenated into the object detection network for lesion localization. RESULTS: The classification network achieved a sensitivity of 1.00 (95% C.I. 0.63-1.00), specificity of 0.95 (0.86-0.99), and AUC (area under the receiver-operating characteristic curve) of 0.97 for radicular cysts and a sensitivity of 0.77 (0.46-0.95), specificity of 1.00 (0.93-1.00), and AUC of 0.88 for periapical granulomas. Average precision for the localization network was 0.83 for radicular cysts and 0.74 for periapical granulomas. CONCLUSIONS: The proposed model demonstrated reliable diagnostic performance for the detection and differentiation of radicular cysts and periapical granulomas. Using deep learning, diagnostic efficacy can be enhanced leading to a more efficient referral strategy and subsequent treatment efficacy. CLINICAL SIGNIFICANCE: A two-route deep learning approach using global and local images can reliably differentiate between radicular cysts and periapical granulomas on panoramic imaging. Concatenating its output to a localizing network creates a clinically usable workflow for classifying and localizing these lesions, enhancing treatment and referral practices.

An expansile presentation of focal cemento-osseous dysplasia of the mandible in a young girl.

A 6-year-old girl presented with a grossly expansive lesion of the left lower jaw. Radiological investigations revealed a large mixed radiolucent/radio-opaque lesion of the left mandible extending into the ramus. Correlation of biopsy and imaging results lead to the diagnosis of an expansile form of focal cemento-osseous dysplasia. Surgical enucleation was performed, and the patient remained free of recurrence after 6 months of follow-up. When dealing with fibro-osseous lesions of the jaw, correlation of radiological and pathological results is mandatory to make a correct diagnosis and avoid unnecessarily extensive surgery.

Non-neoplastic salivary gland diseases in children: a 10-year review at a tertiary center.

OBJECTIVES: Non-neoplastic salivary gland diseases are rare in children. This paper aims to present the spectrum of encountered non-neoplastic salivary gland diseases at a tertiary center by describing the demographics, clinical characteristics, and outcomes in this patient population. METHODS: A review of electronic medical records was performed from 2010 until 2020. Relevant data were retrieved and charted according to the type of salivary gland disease. A comparison between diseases was made for demographics, presenting symptoms, treatment, and outcomes. RESULTS: Fifty patients with 11 different non-neoplastic salivary gland diseases were identified. Sialolithiasis was the most prevalent condition (12/50), with 83% localized in the submandibular gland. In contrast to gender, age, and symptoms, the location of pathology was significantly associated with the diagnosis (p < 0.001). In patients with sialolithiasis, a hybrid procedure (combined endoscopy and lithotomy) resulted in 100% resolution of symptoms. For (plunging) ranula, marsupialisation had a relative risk of recurrence of 9.6 compared to (partial) extirpation of the sublingual gland. CONCLUSIONS: Children with salivary gland diseases present with overlapping symptoms, making clinical diagnosis challenging. The present study may aid physicians and specialists in diagnosing the most prevalent conditions in children. Although no gold standards exist for their treatment, hybrid procedures (sialolithiasis) and subglingual gland extirpation (ranula) showed superior results over alternatives.

Postoperative complications following orthognathic surgery in patients with rheumatic diseases: A 2-year follow-up study.

OBJECTIVE: The purpose of this study was to describe the complications following orthognathic surgery in patients with rheumatic diseases and to evaluate rheumatic disease as a possible risk factor. METHODS: A retrospective cohort study was conducted during a 6-year period. The sample consisted of rheumatic and healthy patients who underwent orthognathic surgery. The outcome variables included infection, relapse, respiratory complications, hemorrhage, neurosensory disturbances, temporomandibular joint complications, and removal of osteosynthesis material. Bivariate analysis and logistic regression were applied to identify rheumatic disease as an independent risk factor for complications after orthognathic surgery. RESULTS: Twenty patients were identified as having rheumatic diseases (male: 2; female: 18; mean age: 37.8 ± 13.6 years), and 278 patients were systemically healthy (male: 105; female: 173; mean age: 25.8 ± 11.8 years). The most frequent complications in rheumatic and healthy patients were delayed recovery from neurosensory disturbance (55% and 33%), removal of osteosynthesis material (45% and 26%), and infection (35% and 7%). Following adjustment for possible confounders, rheumatic disease showed a significant association with infection (OR = 4.191, p = 0.016). CONCLUSION: Patients with rheumatic diseases are at a higher risk of postoperative infection following orthognathic surgery compared to healthy patients.

Influence of systemic comorbidities on the complications of orthognathic surgery: A scoping review.

The potential impact of systemic comorbidities has not yet been thoroughly explored in orthognathic surgery. Therefore, the following scoping review was conducted to accumulate evidence on the possible impact of systemic comorbidities on the orthognathic surgery complications. PubMed, Embase, Cochrane, and Web of Science databases were searched up to April 2022 to identify studies about patients with systemic comorbidities who underwent orthognathic surgery. A total of 12,938 articles were screened, and seven articles met the inclusion criteria. Only one study had control group, other six articles had a non-comparative study design. The current evidence suggests a high impact of rheumatic diseases and neuromuscular disorders on the surgery- and patient-related postoperative complications following orthognathic surgery. At the same instance, the findings of the review should be interpreted with caution due to a lack of substantial evidence for extrapolating the findings to a contemporary surgical practice.

Prevalence of systemic conditions in an orthognathic surgery population: A 20-year single-center study.

OBJECTIVE: To describe the prevalence and characteristics of patients with systemic conditions in an orthognathic surgery population. STUDY DESIGN: A retrospective review was conducted of 1653 patients undergoing orthognathic surgery between 2001 and 2020. Patients were grouped per category of systemic condition and relevant information was retrieved from medical records. Clinical and perioperative characteristics were compared between patients with and without systemic conditions using χ2 tests and 95% confidence intervals. Age was compared using a cumulative logit model. RESULTS: The proportion of patients with systemic conditions undergoing orthognathic surgery was 16% (272 of 1653 patients). Patients with systemic conditions were on average 6 years older than patients without systemic conditions (P < .001). Significant differences in age compared to healthy patients were found for endocrinological (12 years; 95% confidence interval [CI], 8-16 years), gastrointestinal (10 years; 95% CI, 3-18 years), pneumological (5 years; 95% CI, 2-13 years), and cardiovascular disorders (17 years; 95% CI, 12-21 years). CONCLUSION: Nearly 1 out of 6 patients undergoing orthognathic surgery has a systemic condition. Knowledge of the prevalence and characteristics of these patients creates awareness among surgeons and a foundation for future studies on perioperative management.