A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of CDC73 genetic testing and parafibromin staining. This narrative review included a sample-focused analysis from the past decade according to a PubMed search. We identified 17 original human studies (≥4 patients per article). The mean age at disease onset was between 20.8 and 39.5 years, while the largest study found that 71% of patients had HJT recognised before the age of 30. Males and females seemed to be equally affected, in contrast with sporadic PHP. PHP represented the central manifestation of HJT, occurring as the first manifestation in up to 85% of HJT cases. A biochemistry panel found a mean serum calcium level above the level of 12 mg/dL in PHP. PTH was elevated in HJT as well, with average values of at least 236.6 pg/mL. The most frequent pathological type in PHP was a parathyroid adenoma, but the incidence of a parathyroid carcinoma was much higher than in non-HJT cases (15% of all parathyroid tumours), with the diagnosis being established between the age of 15 and 37.5. In some families up to 85% of carriers suffered from a parathyroid carcinoma thus indicating that certain CDC73 pathogenic variants may harbour a higher risk. An important issue in HJT was represented by the parafibromin profile in the parathyroid tumours since in HJT both parathyroid adenomas and carcinomas might display a deficient immunoreactivity. Another frequent manifestation in HJT was ossifying fibromas of the jaw (affecting 5.4% to 50% of patients; the largest study found a prevalence of 15.4%). HJT was associated with a wide variety of kidney lesion (mostly: kidney cysts, with a prevalence of up to 75%, and renal tumours involved in 19% of patients). The risk of uterine lesions seemed increased in HJT, especially with concern to leiomyomas, adenofibromas, and adenomyosis. The underlying pathogenic mechanisms and the involvement of CDC73 pathogenic variants and parafibromin expression are yet to be explored. Currently, the heterogeneous expression of parafibromin status and, the wide spectrum of CDC73 mutations including the variety of clinical presentations in HJT, make it difficult to predict the phenotype based on the genotype. The central role of HJT-PHP is, however, the main clinical element, while the elevated risk of parathyroid carcinoma requires a special awareness.

OBJECTIVE: This review aims to analyse the recurrence rate in BRAFv600e+ and BRAFv600e- ameloblastomas and explore its association with clinicopathological variables.
METHODS: A comprehensive search was conducted using databases including PubMed, Embase, Cochrane Central Register of Controlled Trials, Clinicaltrials.gov, Google Scholar and grey literature, without any limitation on start date or language up to 20 June 2023. A random effect meta-analysis was conducted and Metaregression analyses were performed based on available clinicopathological factors.
RESULTS: Fifteen studies met the criteria for meta-analysis of outcomes. There was no significant difference in overall recurrence rates between the two groups (risk difference = 0.001, p-value = 0.987). Increasing male:female ratio in the BRAFv600e+ group was associated with a lower reported recurrence, suggesting a higher recurrence rate in females. The odds of having mandibular lesion were four times higher in BRAFv600e+ cases compared to BRAFv600e- cases (confidence interval: 2.121-7.870, p < 0.001, I2  = 28.37%).
CONCLUSIONS: Within the BRAFv600e+ group, females showed a higher reported recurrence rate. This specific clinical group may benefit from BRAFv600e mutation investigation and potential upscaled surgical treatment and additional BRAF inhibitor therapy, which needs validation in future studies.

Odontogenic myxoma (OM) is a rare tumour arising in the jaws. The tumour is purported to be odontogenic in origin due to the frequent localisation of the tumour inside the jaws in close relation to teeth. The aim of this report was to detail the course of a patient who developed OM of the maxilla, underwent adequate ablative surgery and reconstruction, including tooth transplantation to the original tumour site, and subsequently developed a local recurrence in close proximity to the teeth transplanted to the reconstructed maxilla 6 years after the first diagnosis. Once again, a partial maxillary resection was performed, with no reconstruction. The patient has been free from tumour recurrence for over 20 years. We discuss the current hypothesis on OM pathogenesis and the possible impact of actively dividing cells on tumour re-growth.

Cherubism is a rare benign, autosomal-dominant hereditary fibro-osseous condition predominantly affecting the jaws. Symmetrical cyst-like expansions of the jaws cause the characteristic facial swellings. The disease is often associated with severe malposition of teeth. The gene for cherubism is src homology 3 binding protein 2 (SH3BP2) located on chromosome 4p16.3. The repeated experience of this self-limiting disorder in affected individuals published in the medical literature has resulted in a wait-and-see strategy regarding therapeutic options. Indeed, cessation and regression of even large bone expansions can be expected in early adulthood. Nevertheless, severe facial disfiguring and functional impairment can make surgical intervention necessary. This report details the surgical procedures carried out in a patient with progressive and disfiguring jaw expansions at the end of adolescence, the mutation of SH3BP2 gene, and the limited effect of surgically assisted orthodontic tooth movement in a patient with disease-associated impaired tooth development and tooth eruption.

Hyperparathyroidism-jaw tumour syndrome (HPT-JT) is a rare variant of familial hyperparathyroidism, characterized by primary hyperparathyroidism (PHPT) due to one or multiple parathyroid adenomas, and benign tumours of the mandible and maxilla. It has an autosomal dominant pattern of inheritance, and is associated with mutations that deactivate the cell division cycle protein 73 homolog (CDC73) gene, also known as hyperparathyroidism 2 (HRPT2), located on the long arm of chromosome 1, that encodes for the tumour suppressor protein parafibromin. In the majority of cases, PHPT is the presenting symptom, but up to 30 % of HPT-JT cases initially present with an ossifying fibroma of the maxillofacial bones. HPT-JT may result in severe hypercalcemia-related complications and an elevated risk of parathyroid carcinoma. For this reason, early identification of the disease is important. We present the case of a 23-year-old woman who was found to have jaw tumours and was later diagnosed with PHPT. Genetic analysis revealed a novel mutation in exon 1 of CDC73. This report contributes to the understanding of the genetics of this rare syndrome. It also highlights the fact that HPT-JT should be considered and CDC73 mutation analysis should be performed in cases of early-onset PHPT associated with ossifying fibromas of the jaw.

It was recently demonstrated that ~80% of Merkel cell carcinomas (MCCs) harbour a novel polyomavirus, Merkel cell polyomavirus (MCPyV). MCPyV has been detected in various human tissue samples. However, previous studies on the prevalence of MCPyV in oral tumours or tumour-like lesions are incomplete. To address this issue, we measured MCPyV DNA quantity using quantitative polymerase chain reaction (qPCR) in 327 oral tumours or tumour-like lesions and 54 jaw tumours or cyst lesions from 381 immunocompetent patients, as well as in 4 oral lesions from 4 immunosuppressed patients. qPCR revealed a low MCPyV prevalence (25/381, 6.6%) with low viral loads (0.00024-0.026 copies/cell) in oral and maxillofacial tumours and tumour-like lesions from immunocompetent patients. The prevalence was 7/176 (4.0%) in invasive squamous cell carcinomas (SCCs) [2/60 (3.33%) SCCs of the tongue, 4/52 (7.7%) SCCs of the gingiva and 1/19 (5.3%) SCCs of the floor of the mouth], 1/10 (10%) in dysplasias, 1/5 (20%) in adenocarcinomas, 2/13 (15.4%) in adenoid cystic carcinomas, 1/10 (10%) in non-Hodgkin\'s lymphomas, 3/10 (30%) in lipomas, 3/5 (60%) in neurofibromas, 1/3 (33.3%) in Schwannomas, 2/12 (16.7%) in Warthin\'s tumours, 2/11 (18.2%) in pyogenic granulomas, 1/14 (7.1%) in radicular cysts and 1/12 (8.3%) in ameloblastomas. The prevalence in lesions from immunosuppressed patients (1/4, 25%) was higher compared with that in lesions from immunocompetent patients (25/381, 6.6%), but the difference was not statistically significant. To the best of our knowledge, this study was the first to report prevalence data of MCPyV in tumours and cysts of the jaws (2/54, 3.7%). These data indicated absence of MCPyV-related tumours or tumour-like lesions in the oral cavity and jaws and suggested that the detected MCPyV DNA was derived from non-neoplastic background tissues with widespread low-level MCPyV infection.

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BACKGROUND: Characteristics and epidemiology of jaw tumours have been described mostly in adults. Compared with their adult counterparts, childhood jaw tumours show considerable differences. The aim of this study was to describe the different jaw tumours in children, define diagnostic tools to determine their specificity and describe optimal treatment.
METHODS: All children patients with jaw lesions, excluding cysts, apical granuloma and osteitis were included in our study between 1999 and 2009. The medical records were analyzed for clinical, radiological, and pathological findings, treatments and recurrences.
RESULTS: Mean patient age was 10.9 years old, ranging from 2 months to 18 years old. Of the 63 lesions, 18 were odontogenic and 45 non-odontogenic lesions. 6% of all cases were malignant tumours; the mean age of presentation was 7.25 years old, [ranging from 0.2 to 18 years old]. Approximately 80% of the tumours developed after 6 years of age. Odontogenic tumours occurred more often after the age of 6.
CONCLUSIONS: Compared with their adult counterpart, childhood jaw tumours show considerable differences in their clinical behaviour and radiological and pathological characteristics. Clinical features of some tumours can be specific to children. Tumourigenesis is related to dental development and facial growth. Conservative treatment should be considered.

Ameloblastic fibroma (AF) is a rare odontogenic tumour of the jaw which usually occurs in the first 2 decades of life. The common clinical manifestation is a slow-growing swelling. We report a case of a 16-year-old male patient presenting with extensive AF of the mandible. He underwent a conservative enucleation. The tumour recurred 2 years after the initial surgery, requiring the second enucleation. The patient has continued to be followed closely and has been disease-free for 4 years. Recent evidence suggests that the recurrent rate of AF is relatively high, and malignant transformation of AF may occur after recurrences or multiple surgeries. A conservative treatment approach with close surveillance is recommended. Anatomical limitations should be taken into account, especially when enucleation of AF in the posterior portion of the jaw is performed. Current surgical pathologic issues of the tumour are also discussed.