-
Canadian Medical Association Journal Dec 1977Although odontogenic keratocysts are benign they are often locally destructive and tend to recur after conservative surgical treatment. They must therefore be...
Although odontogenic keratocysts are benign they are often locally destructive and tend to recur after conservative surgical treatment. They must therefore be distinguished from other cysts of the jaw. Keratocysts possess outpouchings and microscopic daughter cysts from which recurrences may arise. Histologic examination is essential for diagnosis since the appearances on roentgenograms and at operation usually do not reveal the true nature of the lesion. Since many nondental surgeons and pathologists are unaware of odontogenic keratocysts a case is presented in which surgical treatment was originally conservative and finally relatively radical.
Topics: Adult; Diagnosis, Differential; Humans; Keratins; Male; Mandible; Mandibular Neoplasms; Odontogenic Cysts; Recurrence
PubMed: 589539
DOI: No ID Found -
Journal of Dental Research Jan 2019BRAF V600E is the most common mutation in conventional ameloblastoma (AM) of the mandible. In contrast, maxillary AMs appear to harbor more frequently RAS, FGFR2, or SMO...
BRAF V600E is the most common mutation in conventional ameloblastoma (AM) of the mandible. In contrast, maxillary AMs appear to harbor more frequently RAS, FGFR2, or SMO mutations. Unicystic ameloblastoma (UAM) is considered a less aggressive variant of ameloblastoma, amenable to more conservative treatment, and classified as a distinct entity. The aim of this study was to characterize the mutation profile of UAM ( n = 39) and to compare it to conventional AM ( n = 39). The associations between mutation status and recurrence probability were also analyzed. In the mandible, 94% of UAMs (29/31, including 8/8 luminal, 6/8 intraluminal, and 15/15 mural subtypes) and 74% of AMs (28/38) revealed BRAF V600E mutations. Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. Of the 3 maxillary UAMs, only 1 revealed a BRAF V600E mutation. Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. In maxillary UAMs, the BRAF V600E mutation prevalence appears to be lower as was shown for AM previously. It could therefore be argued that UAM and AM are part of the spectrum of the same disease. AMs without BRAF V600E mutations were associated with an increased rate of local recurrence ( P = 0.0003), which might indicate that routine mutation testing also has an impact on prognosis.
Topics: Ameloblastoma; Genetic Markers; Humans; Jaw Neoplasms; Mitogen-Activated Protein Kinase Kinases; Mutation; Neoplasm Recurrence, Local; Odontogenic Tumors; Prognosis; Proto-Oncogene Proteins B-raf
PubMed: 30216733
DOI: 10.1177/0022034518798810 -
Ear, Nose, & Throat Journal Aug 2021
Topics: Aged; Ameloblastoma; Diagnosis, Differential; Humans; Jaw; Jaw Neoplasms; Male; Medical Illustration
PubMed: 31608678
DOI: 10.1177/0145561319880977 -
Ear, Nose, & Throat Journal Sep 2021
Topics: Calcinosis; Female; Humans; Infratemporal Fossa; Jaw Neoplasms; Mandibular Condyle; Medical Illustration; Middle Aged; Osteochondroma; Skull Base Neoplasms; Tomography, X-Ray Computed
PubMed: 32126817
DOI: 10.1177/0145561320910681 -
The American Journal of Case Reports Oct 2022BACKGROUND Brown and jaw tumors are rare entities of poorly understood etiology that are regarded as end-stage of bone remodeling in patients with long-lasting and... (Review)
Review
Association Between Parafibromin Expression and Presence of Brown Tumors and Jaw Tumors in Patients with Primary Hyperparathyroidism: Series of Cases with Review of the Literature.
BACKGROUND Brown and jaw tumors are rare entities of poorly understood etiology that are regarded as end-stage of bone remodeling in patients with long-lasting and chronic hyperparathyroidism. Jaw tumors are mainly diagnosed in jaw tumors syndrome (HPT-JT syndrome) and are caused by mutation in the CDC73 gene, encoding parafibromin, a tumor suppressing protein. The aim of this work is to present 4 cases of patients in whom the genetic mutation of the CDC73 gene and clinical presentation coexist in an unusual setting that has not yet been described. CASE REPORT We present cases of 4 patients with primary hyperparathyroidism. Three were diagnosed with brown tumors (located in long bones, ribs, iliac, shoulders) and 1 with brown and jaw tumors. Expression of parafibromin in affected parathyroid tissues were analyzed. In patients without positive parafibromin staining, we searched for CDC73 mutation using next-generation sequencing. Parafibromin staining was positive in 1 patient with brown tumors and was negative in 2 individuals with brown tumors and 1 with brown and jaw tumors. CDC73 mutation was detected in two-thirds of patients (60%) with negative staining for parafibromin and brown tumors. MEN1 mutation was found in the patient with brown tumor and positive staining for parafibromin. CONCLUSIONS Patients with hyperparathyroidism and coexistence of brown tumors or jaw tumors might have decreased expression of parafibromin in parathyroid adenoma tissue, which might be caused by CDC73 mutation and suggest a genetic predisposition. Further research on much larger study groups is needed.
Topics: Humans; Hyperparathyroidism, Primary; Tumor Suppressor Proteins; Jaw Neoplasms; Parathyroid Neoplasms; Fibroma; Transcription Factors
PubMed: 36271606
DOI: 10.12659/AJCR.936135 -
Medicine Feb 2020Jaw phosphaturic mesenchymal tumors (PMTs) are a rare neoplasm with uncertain histogenesis. This study aimed to clarify the clinical and pathological features of jaw...
Jaw phosphaturic mesenchymal tumors (PMTs) are a rare neoplasm with uncertain histogenesis. This study aimed to clarify the clinical and pathological features of jaw PMTs.We reviewed the clinical records of 39 patients diagnosed with PMTs in the jaws, and investigated clinical and morphologic characteristics, histologic subtypes, and immunophenotypes of all cases.Microscopic analyses revealed 2 major histologic tumor subtypes: "phosphaturic mesenchymal tumors of mixed epithelial and connective tissue" (PMTMECT), and "phosphaturic mesenchymal tumors of mixed connective tissue" (PMTMCT). PMTMECTs and PMTMCTs accounted for 29 and 10 cases of PMTs, respectively. Most PMTMECT diagnoses were made predominantly in males aged <45 years, and the incidence was similar in both the mandible and maxilla. In contrast, patients with PMTMCTs are predominantly females aged ≥45 years, and all tumors were in the mandible. Histologically, PMTMECT had lower cellularity and a more elongated and spindled mesenchymal component with less elaborate intrinsic microvasculature than PMTMCT. Immunohistochemically, the epithelia of all PMTMECTs was immunoreactive for AE1/AE3. Other immunohistochemical staining of PMTMECTs revealed positive expression of vimentin, SATB2, ERG, CD99, Bcl-2, CD56, S-100, D2-40, CD68, SMA, and CD34 in either one or both components. Immunohistochemical staining of PMTMCTs was diffusely positive for vimentin and a varied ratio of positivity for SATB2, ERG, CD99, Bcl-2, CD56, S-100, D2-40, CD68, SMA, and CD34, but negative for AE1/AE3. Most patients were cured by complete resection, except 2 patients who had repeated recurrences, one of which also had multiple metastasis.Jaw PMT can be divided into 2 major histological subtypes. PMTMECTs are more common than are PMTMCTs, and can transform into malignant PMTMCTs during the progression. PMTMECTs were more commonly observed in males and the incidence was similar in both the maxilla and mandible. PMTMCTs were almost always observed in the mandible of females. Compared with PMTMCTs, PMTMECTs have an admixture of epithelial components with less prominent vasculature and lower cellularity. There were no statistically significant differences in the expression of immunohistochemical markers except AE1/AE3 between PMTMECTs and PMTMCTs. However, immunohistochemical markers have great significance for differentiating other mesenchymal tumors.
Topics: Biomarkers, Tumor; Female; Humans; Jaw Neoplasms; Male; Sex Factors; Survival Analysis; Treatment Outcome
PubMed: 32049812
DOI: 10.1097/MD.0000000000019090 -
Journal of Internal Medicine Jun 2003Amongst hyperparathyroidism-related syndromes, hyperparathyroidism-jaw tumour syndrome is one of the least common and relatively unknown but its clinical and genetic...
Amongst hyperparathyroidism-related syndromes, hyperparathyroidism-jaw tumour syndrome is one of the least common and relatively unknown but its clinical and genetic aspects are not less interesting or important. With the recent identification of its genes, we can now better characterize the disease, both clinically and genetically, which will certainly impact the field of endocrinology and oncology. In this article, we review the clinico-pathological features and genetic basis of this syndrome with the hope that it will create awareness and interest in this disease amongst clinicians and basic scientists.
Topics: Genes, Tumor Suppressor; Humans; Hyperparathyroidism; Jaw Neoplasms; Kidney Neoplasms; Maxillary Neoplasms; Multiple Endocrine Neoplasia Type 1; Parathyroid Neoplasms; Syndrome
PubMed: 12755959
DOI: 10.1046/j.1365-2796.2003.01168.x -
Journal of Oral Science Oct 2022Primordial odontogenic tumor (POT) is a rare mixed odontogenic tumor composed of primitive ectomesenchyme similar to the dental papilla. The outer surface consists of...
Primordial odontogenic tumor (POT) is a rare mixed odontogenic tumor composed of primitive ectomesenchyme similar to the dental papilla. The outer surface consists of columnar/cuboidal odontogenic epithelium similar to the inner enamel epithelium, and there is no hard tissue formation. Until now, 27 cases have been reported in the English literature. This article describes the clinicopathological characteristics of one case of POT, representing the oldest patient (aged 26 years) reported to date.
Topics: Adult; Calcinosis; Epithelium; Humans; Jaw Neoplasms; Male; Odontogenic Tumors
PubMed: 36070922
DOI: 10.2334/josnusd.22-0028 -
Journal of Translational Medicine Feb 2019Osteosarcoma (OS) is the most common cancer of bone. Jaw osteosarcoma (JOS) is rare and it differs from other OS in terms of the time of occurrence (two decades later)...
BACKGROUND
Osteosarcoma (OS) is the most common cancer of bone. Jaw osteosarcoma (JOS) is rare and it differs from other OS in terms of the time of occurrence (two decades later) and better survival. The aim of our work was to develop and characterize specific mouse models of JOS.
METHODS
Syngenic and xenogenic models of JOS were developed in mice using mouse (MOS-J) and human (HOS1544) osteosarcoma cell lines, respectively. An orthotopic patient-derived xenograft model (PDX) was also developed from a mandibular biopsy. These models were characterized at the histological and micro-CT imaging levels, as well as in terms of tumor growth and metastatic spread.
RESULTS
Homogeneous tumor growth was observed in both the HOS1544 and the MOS-J JOS models by injection of 0.25 × 10 and 0.50 × 10 tumor cells, respectively, at perimandibular sites. Histological characterization of the tumors revealed features consistent with high grade conventional osteosarcoma, and the micro-CT analysis revealed both osteogenic and osteolytic lesions. Early metastasis was encountered at day 14 in the xenogenic model, while there were no metastatic lesions in the syngenic model and in the PDX models.
CONCLUSION
We describe the first animal model of JOS and its potential use for therapeutic applications. This model needs to be compared with the usual long-bone osteosarcoma models to investigate potential differences in the bone microenvironment.
Topics: Animals; Cell Line, Tumor; Cell Proliferation; Female; Humans; Jaw Neoplasms; Lung Neoplasms; Mandible; Mice, Inbred C57BL; Mice, SCID; Osteosarcoma; Tumor Burden; X-Ray Microtomography; Xenograft Model Antitumor Assays
PubMed: 30813941
DOI: 10.1186/s12967-019-1807-5 -
Indian Journal of Dental Research :... 2023Ameloblastoma is a benign, locally aggressive neoplasm that constitutes about 1-3% of the tumors of the jaw. Wide surgical excision with adequate safe margin is the most...
Ameloblastoma is a benign, locally aggressive neoplasm that constitutes about 1-3% of the tumors of the jaw. Wide surgical excision with adequate safe margin is the most common treatment of choice. The study aimed to manage cases with unicystic ameloblastoma while preserving the continuity of the mandible (without resection). This article presents a series of cases ranging from 18 to 40 years old patients of both sexes with unicystic ameloblastoma, especially in the mandible showing more male predilection than female. All the cases presented in this article were treated by enucleation and curettage. None of the patients presented post-operative paresthesia. None of the cases went in for resection. Post-operative recovery was uneventful in all the patients. All the patients were followed up for a period of 3.5-5 years. None of the cases reported recurrence at the date of publication.
Topics: Humans; Male; Female; Adolescent; Young Adult; Adult; Ameloblastoma; Mandibular Neoplasms; Neoplasm Recurrence, Local; Mandible; Research
PubMed: 37417069
DOI: 10.4103/ijdr.ijdr_521_22