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The Journal of Clinical Endocrinology... Sep 2014CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma. It has also been...
CONTEXT
CDC73 mutations frequently underlie the hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism (FIHP), and parathyroid carcinoma. It has also been suggested that CDC73 deletion analysis should be performed in those patients without CDC73 mutations.
OBJECTIVE
To investigate for CDC73 deletion in a family with FIHP previously reported not to have CDC73 mutations.
PATIENTS AND METHODS
Eleven members (six affected with primary hyperparathyroidism and five unaffected) were ascertained from the family, and multiplex ligation-dependent probe amplification was performed to detect CDC73 deletion using leukocyte DNA.
RESULTS
A previously unreported deletion of CDC73 involving exons 1-10 was detected in five affected members and two unaffected members who were 26 and 39 years of age. Two affected members had parathyroid carcinomas at the ages of 18 and 32 years, and they had Ki-67 proliferation indices of 5 and 14.5% and did not express parafibromin, encoded by CDC73. Primary hyperparathyroidism in the other affected members was due to adenomas and atypical adenomas, and none had jaw tumors. Two affected members had thoracic aortic aneurysms, which in one member occurred with parathyroid carcinoma and renal cysts.
CONCLUSION
A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with FIHP, due to adenomas, atypical adenomas, and parathyroid carcinomas. In addition, two affected males had thoracic aortic aneurysms, which may represent another associated clinical feature of this disorder.
Topics: Adenoma; Adolescent; Adult; Family Health; Female; Fibroma; Gene Deletion; Humans; Hyperparathyroidism; Jaw Neoplasms; Male; Parathyroid Neoplasms; Pedigree; Phenotype; Tumor Suppressor Proteins
PubMed: 24823466
DOI: 10.1210/jc.2014-1481 -
Medicina Oral, Patologia Oral Y Cirugia... Jan 2015The objective of this study was to analyze the frequency and distribution of odontogenic tumors (OTs) in the Cappadocia region of Turkey, and to compare the findings... (Review)
Review
OBJECTIVES
The objective of this study was to analyze the frequency and distribution of odontogenic tumors (OTs) in the Cappadocia region of Turkey, and to compare the findings with those reported in the literature.
STUDY DESIGN
The records of the Oral and Maxillofacial Surgery and Pathology Departments at Erciyes University, with histologic diagnosis of odontogenic tumors (based on the World Health Organization classification, 2005), over a 12-year period, were analyzed. The relative frequency of different types of tumors was also analyzed and compared with the literature.
RESULTS
OTs in the present study constituted 2.74% of all the 7,942 registered biopsies. A total of 218 cases of OTs were collected and reviewed. Of these, (94.04%) were benign and (5.96%) were malignant. The mandible was the most commonly affected anatomic location, with 170 cases (77.9%). Ameloblastoma with a predilection for the posterior mandible was the most frequent odontogenic tumor (30.28%), followed by keratocystic odontogenic tumor (19.5%), odontoma (13.4%), and odontogenic myxoma (8.5%).
CONCLUSIONS
OTs are rare neoplasms and appear to show geographic variations in the world. In Cappadocia, Turkey, they are more common in the mandible, with ameloblastoma followed by keratocystic odontogenic tumors with the incidences observed in the present study being similar to those of previous studies from Asia and Africa, and in contrast to those reported from American countries.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Female; Humans; Jaw Neoplasms; Male; Middle Aged; Odontogenic Tumors; Retrospective Studies; Time Factors; Turkey; Young Adult
PubMed: 25481228
DOI: 10.4317/medoral.19157 -
Medical Principles and Practice :... 2011The aim of this study was to determine the relative frequency of jaw lesions in Kuwait.
OBJECTIVES
The aim of this study was to determine the relative frequency of jaw lesions in Kuwait.
MATERIALS AND METHODS
Biopsy records and microscopic sections of all jaw biopsies seen in the Department of Histopathology at Amiri Hospital, Kuwait, during the period January 2004 to December 2009 were reviewed. The biopsies were divided into three major groups: developmental/inflammatory/reactive lesions (group 1), cystic lesions (group 2), and tumors and tumor-like lesions (group 3). Groups 2 and 3 were subdivided into odontogenic and nonodontogenic.
RESULTS
Three hundred and eighty-five cases were reviewed. Of the 385 cases, 115 (29.9%) were in group 1, 178 (46.2%) in group 2, and 92 (23.9%) in group 3. Overall, radicular cysts (n = 95; 24.7%) were the most common biopsied jaw lesions, followed by chronic apical periodontitis (n = 59; 15.3%), dentigerous cysts (n = 51; 13.2%), and keratocystic odontogenic tumors (n = 30; 7.8%). In group 1, chronic apical periodontitis was the most frequent lesion (n = 59; 51.3%). In group 2, odontogenic cysts (n = 166; 93.3%) were more frequent than nonodontogenic cysts (n = 12; 6.7%), and radicular cysts (n = 95; 53.4%) were the most frequent lesions in this group. Odontogenic tumors (n = 61; 66.3%) were more frequent than nonodontogenic tumors (n = 31; 33.7%) in group 3. Keratocystic odontogenic tumors (n = 30; 32.6%) were the most frequent type of lesion in this group, followed by ameloblastoma (n = 17; 18.5%). Only 3 malignant lesions were found in this study.
CONCLUSIONS
Cystic and inflammatory lesions of the jaw are more common than tumors and tumor-like lesions of the jaw in Kuwait. The majority of inflammatory lesions that occurred in the jaw were related to periapical inflammation. Most cystic and tumorous jaw lesions were odontogenic in origin. Locally aggressive odontogenic tumors were relatively more common than nonaggressive ones. Malignant jaw tumors were relatively rare.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biopsy; Child; Child, Preschool; Female; Humans; Jaw Neoplasms; Kuwait; Male; Mandible; Maxilla; Middle Aged; Odontogenic Cysts; Retrospective Studies; Young Adult
PubMed: 21986014
DOI: 10.1159/000330023 -
Diagnostic Pathology May 2011To investigate the expression of CD10 and osteopontin in dentigerous cyst and ameloblastoma and to correlate their expression with neoplastic potentiality of dentigerous...
AIMS AND OBJECTIVES
To investigate the expression of CD10 and osteopontin in dentigerous cyst and ameloblastoma and to correlate their expression with neoplastic potentiality of dentigerous cyst and local invasion and risk of local recurrence in ameloblastoma.
METHODS
CD10 and osteopontin expression was studied by means of immunohistochemistry in 9 cases of dentigerous cysts (DC) and 17 cases of ameloblastoma. There were 7 unicystic ameloblastoma (UCA) and 10 multicystic ameloblastoma (MCA). Positive cases were included in the statistical analysis, carried on the tabulated data using the Open Office Spreadsheet 3.2.1 under Linux operating system. Analysis of variance and correlation studies were performed using "R" under Linux operating system (R Development Core Team (2010). Tukey post-hoc test was also performed as a pair-wise test. The significant level was set at 0.05.
RESULTS
High CD10 and osteopontin expression was observed in UCA and MCA, and low CD10 and osteopontin expression was observed in DC. Significant correlation was seen between CD10 and osteopontin expression and neoplastic potentiality of DC and local invasion and risk of recurrences in ameloblastoma.
CONCLUSIONS
In DC, high CD10 and osteopontin expression may indicate the neoplastic potentiality of certain areas. In UCA & MCA, high CD10 and osteopontin expression may identify areas with locally invasive behavior and high risk of recurrence.
Topics: Ameloblastoma; Biomarkers, Tumor; Dentigerous Cyst; Disease Progression; Humans; Jaw Neoplasms; Neprilysin; Osteopontin
PubMed: 21609487
DOI: 10.1186/1746-1596-6-44 -
Head and Neck Pathology Sep 2016The melanotic neuroectodermal tumor of infancy (MNTI) is a rare childhood neoplasm with an alarming but classical clinical presentation. We present the case of a...
The melanotic neuroectodermal tumor of infancy (MNTI) is a rare childhood neoplasm with an alarming but classical clinical presentation. We present the case of a 2-month-old male infant treated with surgery for an aggressive MNTI on the alveolar process of the maxilla. Radiographic examination showed a diffuse osteolytic radiolucent lesion in the right maxilla, and displacement and dysmorphic changes in the developing primary tooth buds. The patient remained well without evidence of recurrence for 6 months after surgery. We discussed clinicopathological features, management alternatives, and outcome.
Topics: Biomarkers, Tumor; Humans; Immunohistochemistry; Infant; Male; Maxillary Neoplasms; Neuroectodermal Tumor, Melanotic; Oral Surgical Procedures
PubMed: 26581397
DOI: 10.1007/s12105-015-0671-8 -
Head and Neck Pathology Jun 2020Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. The classic form of the condition includes a painless cervical lymphaenopathy...
Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. The classic form of the condition includes a painless cervical lymphaenopathy accompanied by fever, weight loss and an elevated ESR. Extra nodal RDD (ENRDD) is most frequent in the head and neck. Thirty-eight cases of ENRDD have been described. Seven cases of ENRDD were identified in our pathology biopsy services. The demographic and clinical information was tabulated logically on the basis of age, gender, location and presence or absence of symptoms, treatment and follow-up. Radiographic and histopathological features were also examined. The findings in these cases were correlated with those available from the previously reported cases. Six cases affected women and one case was diagnosed in a male. The age ranged from 22-55 years. Three cases presented as a nasal mass. One of these lesions extended into the paranasal sinuses. One case was located in the maxilla and extended to involve the maxillary sinus. Three cases were diagnosed in the mandible. The maxillary and one mandibular lesion (Case 2) resulted in significant painful irregular bone destruction with a non-healing socket and tooth mobility respectively. One mandibular lesion was asymptomatic (Case 6). The third case affecting the mandible presented as a rapidly expansile mass following a tooth extraction (Case 7). Nasal masses presented with symptoms of obstruction. Nasal masses were excised with no recurrence from up to 2-3 years of follow-up. The mandibular lesions were curetted aggressively. The oral mass in Case 7 was excised synchronously. No recurrence up to 2 years was recorded in Case 2. Follow-up information is not available for Cases 6 and 7. The maxillary lesion was not intervened surgically. The patient has persistent but stable disease for a follow-up period of 2 years. ENRDD is rarely considered in the differential diagnosis in the absence of lymph node involvement. Lesions of ENRDD resemble many other histiocytic and histiocyte-rich lesions of the head and neck. This makes the diagnosis of ENRDD challenging with the potential for under diagnosis or misdiagnosis and delay in treatment.
Topics: Adult; Female; Histiocytosis, Sinus; Humans; Jaw Neoplasms; Male; Middle Aged; Nose Neoplasms; Paranasal Sinus Neoplasms; Young Adult
PubMed: 31368076
DOI: 10.1007/s12105-019-01056-8 -
Scientific Reports Sep 2021Ameloblastomas are odontogenic tumors that are rare in people but have a relatively high prevalence in dogs. Because canine acanthomatous ameloblastomas (CAA) have... (Comparative Study)
Comparative Study
Ameloblastomas are odontogenic tumors that are rare in people but have a relatively high prevalence in dogs. Because canine acanthomatous ameloblastomas (CAA) have clinicopathologic and molecular features in common with human ameloblastomas (AM), spontaneous CAA can serve as a useful translational model of disease. However, the molecular basis of CAA and how it compares to AM are incompletely understood. In this study, we compared the global genomic expression profile of CAA with AM and evaluated its dental origin by using a bulk RNA-seq approach. For these studies, healthy gingiva and canine oral squamous cell carcinoma served as controls. We found that aberrant RAS signaling, and activation of the epithelial-to-mesenchymal transition cellular program are involved in the pathogenesis of CAA, and that CAA is enriched with genes known to be upregulated in AM including those expressed during the early stages of tooth development, suggesting a high level of molecular homology. These results support the model that domestic dogs with spontaneous CAA have potential for pre-clinical assessment of targeted therapeutic modalities against AM.
Topics: Ameloblastoma; Animals; Carcinoma, Squamous Cell; Dog Diseases; Dogs; Epithelial-Mesenchymal Transition; Gene Expression Profiling; Genes, ras; Gingiva; Humans; Jaw Neoplasms; MAP Kinase Signaling System; Multigene Family; Mutation; Neoplasm Proteins; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins p21(ras); RNA, Messenger; RNA, Neoplasm; RNA-Seq; Signal Transduction; Species Specificity; Transcriptome
PubMed: 34493785
DOI: 10.1038/s41598-021-97430-0 -
Medicina (Kaunas, Lithuania) Nov 2023Ameloblastoma is the most common benign odontogenic tumor with local invasion and high recurrence, which generally occurs in the jaw bones. Hypercalcemia is a common... (Review)
Review
Ameloblastoma is the most common benign odontogenic tumor with local invasion and high recurrence, which generally occurs in the jaw bones. Hypercalcemia is a common paraneoplastic syndrome that is commonly observed in patients with malignancies but rarely encountered in patients with benign tumors. Thus far, not many cases of ameloblastoma with hypercalcemia have been reported, and the pathogenic mechanism has not been studied in depth. This paper presents a case report of a 26-year-old male diagnosed with giant ameloblastoma of the mandible, accompanied by rare hypercalcemia. Additionally, a review of the relevant literature is conducted. This patient initially underwent marsupialization, yet this treatment was not effective, which indicated that the selection of the appropriate operation is of prime importance for improving the prognosis of patients with ameloblastoma. The tumor not only failed to shrink but gradually increased in size, accompanied by multiple complications including hypercalcemia, renal dysfunction, anemia, and cachexia. Due to the contradiction between the necessity of tumor resection and the patient's poor systemic condition, we implemented a multi-disciplinary team (MDT) meeting to better evaluate this patient's condition and design an individualized treatment strategy. The patient subsequently received a variety of interventions to improve the general conditions until he could tolerate surgery, and finally underwent the successful resection of giant ameloblastoma and reconstruction with vascularized fibular flap. No tumor recurrence or distance metastasis was observed during 5 years of follow-up. Additionally, the absence of hypercalcemia recurrence was also noted.
Topics: Male; Humans; Adult; Ameloblastoma; Hypercalcemia; Mandibular Neoplasms; Neoplasm Recurrence, Local; Mandible
PubMed: 38004005
DOI: 10.3390/medicina59111956 -
Indian Journal of Dental Research :... 2006Solitary intraosseous neurofibroma is a rare benign non-odontogenic tumor. Although neurofibromas occur predominantly as a feature of neurofibromatosis affecting the... (Review)
Review
Solitary intraosseous neurofibroma is a rare benign non-odontogenic tumor. Although neurofibromas occur predominantly as a feature of neurofibromatosis affecting the soft tissue, a few cases of solitary intraosseous neurofibromas of the jaw have been reported. We herewith report a case of solitary intraosseous neurofibroma of mandible in a middle-aged woman with a discussion on its clinical, radiological, and histopathological presentation along with review of cases.
Topics: Adult; Biopsy; Diagnosis, Differential; Female; Humans; Mandibular Neoplasms; Neurofibroma; Radiography, Panoramic
PubMed: 17176831
DOI: 10.4103/0970-9290.29874 -
Journal of Cancer Research and... 2020The leiomyoma is a benign smooth-muscle neoplasm commonly found in the female genital tract, gastrointestinal tract, or skin. Leiomyomas of the oral cavity are unusual....
The leiomyoma is a benign smooth-muscle neoplasm commonly found in the female genital tract, gastrointestinal tract, or skin. Leiomyomas of the oral cavity are unusual. Oral leiomyomas are uncommon due to the paucity of the smooth muscle in the mouth (except in blood vessels) and thus the involvement of jaw bones is extremely rare. Leiomyomas have been classified as solid angiomyoma, angioleiomyoma (vascular leiomyoma), and epithelioid variants. Angioleiomyomas are benign mesenchymal tumors derived from smooth muscle, which rarely occur in the oral cavity. Malignant transformation probably does not occur but careful histopathologic examination is still necessary to differentiate these benign lesions from their malignant counterparts due to different prognosis. Although uncommon in the maxilla and mandible, they should be included in the differential diagnosis of radiolucent lesions of jaw bones. An extensive search of literature was carried out on the Medline-PubMed and Google Scholar database using the keywords such as leiomyoma, angioleiomyoma, jaw bones, maxilla, mandible, intra-osseous to thoroughly search and collect all the reported cases of intraosseous leiomyoma (but our search was not limited to these terms only). To the best of our knowledge, only 23 cases of intraosseous leiomyomas have been reported so far in the jaw bones, among which only 8 belonged to angioleiomyomas. Herein, we report the 9 case of intraosseous angioleiomyoma, one of the variants of leiomyoma and overall 24 intraosseous leiomyoma in a 6-year-old female child, together with conventional histopathologic and immunohistochemical findings.
Topics: Actins; Angiomyoma; Antigens, CD34; Biomarkers, Tumor; Child; Female; Humans; Mandibular Neoplasms; Muscle, Smooth; Rare Diseases
PubMed: 32719283
DOI: 10.4103/jcrt.JCRT_960_17