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Journal of Internal Medicine Jul 2009Parafibromin is a predominantly nuclear protein with a tumour suppressor role in the development of hereditary and nonhereditary parathyroid carcinomas, and the... (Review)
Review
Parafibromin is a predominantly nuclear protein with a tumour suppressor role in the development of hereditary and nonhereditary parathyroid carcinomas, and the hyperparathyroidism-jaw tumour syndrome, which is associated with renal and uterine tumours. Parafibromin is a component of the highly conserved PAF1 complex, which regulates transcriptional events and histone modifications. The parafibromin/PAF1 complex regulates genes involved in cell growth and survival, and via these, parafibromin plays a pivotal role in embryonic development and survival of adults.
Topics: Amino Acid Sequence; Animals; Genetic Predisposition to Disease; Humans; Hyperparathyroidism; Jaw Neoplasms; Molecular Sequence Data; Neoplasm Proteins; Neoplastic Syndromes, Hereditary; Parathyroid Neoplasms; Tumor Suppressor Proteins
PubMed: 19522828
DOI: 10.1111/j.1365-2796.2009.02107.x -
Australian Dental Journal Mar 2018The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a...
The complexity of the craniofacial patient mandates the cooperation of a multidisciplinary team that can systematically evaluate each individual and ensure that a protocol-driven pathway is undertaken for the best patient care. Oral and maxillofacial surgeons contribute to surgical care in this setting with specific knowledge of growth and development of the face. This enables optimum timing for early skeletal correction where appropriate, and definitive surgery following the cessation of growth to maximize function and aesthetics. This chapter will describe the major principles in managing patients with specific craniofacial anomalies and provide examples of the outcomes possible.
Topics: Adolescent; Child; Child, Preschool; Craniofacial Abnormalities; Dentistry; Face; Facial Injuries; Female; Humans; Imaging, Three-Dimensional; Infant; Infant, Newborn; Jaw Neoplasms; Macroglossia; Male; Myxoma; Skull; Synostosis; Tomography, X-Ray Computed
PubMed: 29574817
DOI: 10.1111/adj.12591 -
BMJ Case Reports Jun 2015Ameloblastic fibro-odontoma is a slow growing, benign, expansile epithelial odontogenic tumour with odontogenic mesenchyme, accounting for 0.3-1.7% of jaw tumours,...
Ameloblastic fibro-odontoma is a slow growing, benign, expansile epithelial odontogenic tumour with odontogenic mesenchyme, accounting for 0.3-1.7% of jaw tumours, signifying its rarity. The WHO defines it as "a neoplasm composed of proliferating odontogenic epithelium in a cellular ectomesenchymal tissue with varying degrees of inductive changes and dental hard tissue formation". We report a case of an 11-year-old girl who presented to the Department of Maxillo-Facial Medicine and Radiology for the evaluation of a swelling in the left posterior mandible. Her clinical chart and investigations unveiled it as ameloblastic fibro-odontoma. After a promising presurgical evaluation, the lesion was enucleated using an intraoral approach followed by osteoplasty. Osteogenesis was attained despite of any definitive techniques to promote bone regeneration. Immediate postoperative inter-maxillary fixation was performed to prevent pathological fractures for a period of 3 weeks. In an 8-month follow-up, no untoward complications were noticed.
Topics: Child; Epithelium; Female; Humans; Mandible; Mandibular Neoplasms; Mesoderm; Odontogenic Tumors; Odontoma
PubMed: 26045519
DOI: 10.1136/bcr-2015-209739 -
Indian Journal of Dental Research :... 2016Odontogenic myxomas are a rare benign odontogenic mesenchymal tumor found exclusively in the tooth-bearing area of the jaw and are usually located centrally in the...
Odontogenic myxomas are a rare benign odontogenic mesenchymal tumor found exclusively in the tooth-bearing area of the jaw and are usually located centrally in the mandible. Soft tissue localization is rarely seen and is classified as peripheral odontogenic myxoma (POM). POM is slow growing and less aggressive as compared to central myxoma. It has a low recurrence rate, comprises 3-6% of all odontogenic tumors. Only a few cases of POM on maxillary gingiva are reported in the literature. Here, we present an unusual case of primary POM occurring in the gingiva of anterior maxilla in a 14-year-old female patient.
Topics: Adolescent; Diagnosis, Differential; Female; Humans; Maxillary Neoplasms; Myxoma; Odontogenic Tumors
PubMed: 27723644
DOI: 10.4103/0970-9290.191896 -
Hormones (Athens, Greece) Mar 2024Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH)... (Review)
Review
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
Topics: Infant, Newborn; Humans; Hyperparathyroidism, Primary; Calcium; Hypercalcemia; Adenoma; Fibroma; Hyperparathyroidism; Jaw Neoplasms
PubMed: 38038882
DOI: 10.1007/s42000-023-00508-9 -
Scientific Reports Feb 2022We aimed to develop an explainable and reliable method to diagnose cysts and tumors of the jaw with massive panoramic radiographs of healthy peoples based on deep...
We aimed to develop an explainable and reliable method to diagnose cysts and tumors of the jaw with massive panoramic radiographs of healthy peoples based on deep learning, since collecting and labeling massive lesion samples are time-consuming, and existing deep learning-based methods lack explainability. Based on the collected 872 lesion samples and 10,000 healthy samples, a two-branch network was proposed for classifying the cysts and tumors of the jaw. The two-branch network is firstly pretrained on massive panoramic radiographs of healthy peoples, then is trained for classifying the sample categories and segmenting the lesion area. Totally, 200 healthy samples and 87 lesion samples were included in the testing stage. The average accuracy, precision, sensitivity, specificity, and F1 score of classification are 88.72%, 65.81%, 66.56%, 92.66%, and 66.14%, respectively. The average accuracy, precision, sensitivity, specificity, and F1 score of classification will reach 90.66%, 85.23%, 84.27%, 93.50%, and 84.74%, if only classifying the lesion samples and healthy samples. The proposed method showed encouraging performance in the diagnosis of cysts and tumors of the jaw. The classified categories and segmented lesion areas serve as the diagnostic basis for further diagnosis, which provides a reliable tool for diagnosing jaw tumors and cysts.
Topics: Case-Control Studies; Deep Learning; Humans; Jaw Cysts; Jaw Neoplasms; Predictive Value of Tests; Radiographic Image Interpretation, Computer-Assisted; Radiography, Panoramic; Reproducibility of Results
PubMed: 35115624
DOI: 10.1038/s41598-022-05913-5 -
Human Mutation Dec 2017Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy.... (Review)
Review
Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT-JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas. Moreover, CDC73 germline mutations occur in 20%-40% of patients with sporadic PC and may reveal unrecognized HPT-JT. This indicates that CDC73 mutations are major driver mutations in the etiology of PCs. However, there is no genotype-phenotype correlation and some CDC73 mutations (e.g., c.679_680insAG) have been reported in patients with sporadic PC, HPT-JT, or FIHP. Other genes involved in sporadic PC include germline MEN1 and rearranged during transfection (RET) mutations and somatic alterations of the retinoblastoma 1 (RB1) and tumor protein P53 (TP53) genes, as well as epigenetic modifications including DNA methylation and histone modifications, and microRNA misregulation. This review summarizes the genetics and epigenetics of the familial syndromic and non-syndromic (sporadic) forms of PC.
Topics: Adenoma; DNA Methylation; Epigenomics; Fibroma; Germ-Line Mutation; Humans; Hyperparathyroidism; Hyperparathyroidism, Primary; Jaw Neoplasms; MicroRNAs; Parathyroid Neoplasms; Proto-Oncogene Proteins; Retinoblastoma Binding Proteins; Tumor Suppressor Protein p53; Tumor Suppressor Proteins; Ubiquitin-Protein Ligases
PubMed: 28881068
DOI: 10.1002/humu.23337 -
Clinical Cancer Research : An Official... Jul 2017Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple... (Review)
Review
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic variants (11q13), MEN2A and MEN2B are due to pathogenic variants (10q11.21), MEN4 is due to pathogenic variants (12p13.1), and the HPT-JT syndrome is due to pathogenic variants (1q25). Although each of these genetic syndromes share the presence of neuroendocrine tumors, each syndrome has a slightly different tumor spectrum with specific surveillance recommendations based upon tumor penetrance, including the age and location for which specific tumor types most commonly present. Although the recommended surveillance strategies for each syndrome contain similar approaches, important differences do exist among them. Therefore, it is important for caregivers of children and adolescents with these syndromes to become familiar with the unique diagnostic criteria for each syndrome, and also to be aware of the specific tumor screening and prophylactic surgery recommendations for each syndrome. .
Topics: Adenoma; Adolescent; Child; Fibroma; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; Hyperparathyroidism; Jaw Neoplasms; Multiple Endocrine Neoplasia; Multiple Endocrine Neoplasia Type 2b; Proto-Oncogene Proteins; Proto-Oncogene Proteins c-ret; Risk Factors; Tumor Suppressor Proteins
PubMed: 28674121
DOI: 10.1158/1078-0432.CCR-17-0548 -
International Journal of Molecular... Jun 2022The gene, a defect which causes hyperparathyroidism-jaw tumor (HPT-JT) syndrome, encodes CDC73/parafibromin. We aimed to investigate whether CDC73 would be a target for...
The gene, a defect which causes hyperparathyroidism-jaw tumor (HPT-JT) syndrome, encodes CDC73/parafibromin. We aimed to investigate whether CDC73 would be a target for ubiquitin-proteasome degradation. We cloned full-length cDNAs encoding a family of 58 ubiquitin-specific deubiquitinating enzymes (DUBs), also known as ubiquitin-specific proteases (USPs). Use of the yeast two-hybrid system then enabled us to identify USP37 as interacting with CDC73. The biochemical interaction between the USP37 and CDC73 and their reciprocal binding domains were studied. Co-localization of CDC73 and USP37 was observed in cells. CDC73 was found to be polyubiquitinated, and polyubiquitination of CDC73 was prominent in mutants. CDC73 was deubiquitinated via K48-specific ubiquitin chains by USP37, but not by the catalytically inactive USP37 mutant. Observation of the binding between deletion mutants of CDC73 and USP37 revealed that the β-catenin binding site of CDC73 and the ubiquitin-interacting motifs 2 and 3 (UIM2 and 3) of USP37 were responsible for the interaction between the two proteins. Moreover, these two enzymes co-existed within the nucleus of COS7 cells. We conclude that USP37 is a DUB for CDC73 and that the two proteins interact through specific domains, suggesting that USP37 is responsible for the stability of CDC73 in HPT-JT syndrome.
Topics: Adenoma; Endopeptidases; Fibroma; Humans; Hyperparathyroidism; Jaw Neoplasms; Transcription Factors; Tumor Suppressor Proteins; Ubiquitins
PubMed: 35742816
DOI: 10.3390/ijms23126364 -
Head and Neck Pathology Mar 2023Cystic lesions of the gnathic bones present challenges in differential diagnosis. This category includes a smorgasbord of odontogenic and non-odontogenic entities that... (Review)
Review
BACKGROUND
Cystic lesions of the gnathic bones present challenges in differential diagnosis. This category includes a smorgasbord of odontogenic and non-odontogenic entities that may be reactive or neoplastic in nature. While most cystic jaw lesions are benign, variability in biologic behavior makes distinction between these entities absolutely crucial.
METHODS
Review.
RESULTS
Two clinical cases are presented in parallel and are followed by an illustrated discussion of the ten most likely differential diagnoses that should be considered when confronted with a cystic jaw lesion. Strong emphasis is placed on the histologic differences between these entities, empowering readers to diagnose them with confidence. Perhaps even more importantly, the more common diagnostic pitfalls in gnathic pathology are discussed, recognizing that a definitive diagnosis cannot be rendered in every situation. The histologic diagnoses for the two clinical cases are finally revealed.
CONCLUSION
Cystic lesions of the maxilla and mandible may be odontogenic or non-odontogenic. The most common cystic lesions are the reactive periapical cyst, and the dentigerous cyst (which is developmental in nature). It is important to note that cystic neoplasms also occur in the jaws, and that the presence of inflammation may obscure the diagnostic histologic features of lesions like odontogenic keratocyst and unicystic ameloblastoma. Ancillary testing is of limited diagnostic value in most scenarios. However, both clinical and radiographic information (such as the location, size, duration, associated symptoms, and morphology of the lesion in its natural habitat) are significantly useful.
Topics: Humans; Diagnosis, Differential; Jaw Neoplasms; Odontogenic Cysts; Odontogenic Tumors; Ameloblastoma; Maxilla
PubMed: 36928736
DOI: 10.1007/s12105-023-01525-1