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PloS One 2015Malignant ameloblastoma, comprising metastasizing ameloblastoma and ameloblastic carcinoma, represents 1.6-2.2% of all odontogenic tumors. Due to its rare nature,...
BACKGROUND
Malignant ameloblastoma, comprising metastasizing ameloblastoma and ameloblastic carcinoma, represents 1.6-2.2% of all odontogenic tumors. Due to its rare nature, malignant ameloblastoma has only been reported in the literature in small case series or case reports. Using the Surveillance, Epidemiology and End-Results (SEER) database, we have performed a population-based study to determine the incidence rate and the absolute survival of malignant ameloblastoma.
METHOD
Using the International Classification of Diseases for Oncology (ICD-O) codes 9310/3 and 9270/3, data from the SEER database were used to calculate the incidence rate and absolute survival rate of population with malignant ameloblastoma.
RESULTS
The overall incidence rate of malignant ameloblastoma was 1.79 per 10 million person/year. The incidence rate was higher in males than females and also higher in black versus white population. The median overall survival was 17.6 years from the time of diagnosis and increasing age was associated with a statistically significant poorer survival.
CONCLUSIONS
To our best knowledge, we report the largest population-based series of malignant ameloblastoma. The incidence rate was 1.79 per 10 million person/year and the overall survival was 17.6 years.
Topics: Adolescent; Adult; Ameloblastoma; Child; Child, Preschool; Cohort Studies; Databases, Factual; Epidemiological Monitoring; Female; Humans; Incidence; Infant; Infant, Newborn; Jaw Neoplasms; Male; Middle Aged; Survival Rate; Young Adult
PubMed: 25692490
DOI: 10.1371/journal.pone.0117789 -
Dental Update 2015This article aims to discuss the clinical features, radiological assessment, histopathology and management of a variety of odontogenic cysts. It also highlights the...
This article aims to discuss the clinical features, radiological assessment, histopathology and management of a variety of odontogenic cysts. It also highlights the reclassification of odontogenic keratocysts to keratocystic odontogenic tumours.
Topics: Dentigerous Cyst; Humans; Jaw Neoplasms; Odontogenic Cysts; Odontogenic Tumors; Periodontal Cyst; Radicular Cyst
PubMed: 26506810
DOI: 10.12968/denu.2015.42.6.548 -
The Kobe Journal of Medical Sciences Dec 2017The aim of this case series was to reveal the difficulties in diagnosing fibro-osseous lesions with radiological and histopathological examinations and quantify the...
The aim of this case series was to reveal the difficulties in diagnosing fibro-osseous lesions with radiological and histopathological examinations and quantify the potential risk of infection to fibro-osseous legions. To analyze the concordance between radiological and histopathological diagnoses, this retrospective case series included patients who were clinically diagnosed with fibro-osseous lesions via radiological findings and excluded the patients who did not undergo histopathological examinations. This study also included the patients in whom histopathological results confirmed fibro-osseous legions when preoperative radiological diagnosis did not include fibro-osseous legions. Eleven patients (three men, eight women; median age 24.5 years, range 15-57 years) were enrolled. Although radiological diagnoses of fibrous dysplasia (FD) corresponded with histopathological diagnoses in seven patients, mismatches between radiological findings and histopathological results were found in three patients. In one patient, suspected diagnosis with radiological examinations was malignant lymphoma or FD. In two patients, the histopathological differentiation between FD and ossifying fibroma (OF) was difficult. One patient had lesion recurrence which was suspected to be OF with surgical findings and postoperative course after the initial surgery. In three patients, infections of FD were found. Preoperative diagnosis of OF with radiographic feature of unilocular radiolucency is difficult. In cases in which histopathological differentiation between FD and OF is difficult, operative findings should be used because OF is often found to be well-encapsulated and easily enucleated. Bone in FD showing mixed radiolucent-radiopaque may be vulnerable to infection.
Topics: Adolescent; Adult; Bone Resorption; Diagnostic Errors; Female; Fibroma, Ossifying; Fibrous Dysplasia of Bone; Humans; Jaw Neoplasms; Male; Middle Aged; Radiography, Panoramic; Tomography, X-Ray Computed; Young Adult
PubMed: 29434178
DOI: No ID Found -
Dento Maxillo Facial Radiology Jan 2010The purpose of this article is to report 20 cases of ossifying fibroma involving the jaw bone and to review the literature of this lesion. All the cases had adequate... (Review)
Review
The purpose of this article is to report 20 cases of ossifying fibroma involving the jaw bone and to review the literature of this lesion. All the cases had adequate radiographs and clinical information. Varying shapes of the lesion including cystic lesion and mixed density lesion are presented, including two massive expansile lesions, which measured more than 10 cm.
Topics: Adolescent; Adult; Child; Female; Fibroma, Ossifying; Humans; Jaw Neoplasms; Male; Middle Aged; Radiography; Young Adult
PubMed: 20089746
DOI: 10.1259/dmfr/96330046 -
Medicina Oral, Patologia Oral Y Cirugia... Mar 2007Odontogenic Calcificant Cystic Tumor (OCCT) is an infrequent injury. It arises from odontogenic epithelial rests present in the maxilla, jaw or gum. Gorlin and col.... (Review)
Review
Odontogenic Calcificant Cystic Tumor (OCCT) is an infrequent injury. It arises from odontogenic epithelial rests present in the maxilla, jaw or gum. Gorlin and col. described the OCCT for first time as an own pathological entity in 1962. Clinically, the OCCT represents 1% of the odontogenic injuries. It is possible to be found from the first decade to the eighth decade. It affects in same proportion the maxilla and the jaw, being the most common in the dented zones, with greater incidence in the first molar area. Two case reports of OCCT in two different ages, both in female individuals, one at 5 years old and the other at 35 years old are presented. Enucleation of the tumor was the treatment chosen. The purpose of this article is to present a review of the literature related to these two cases of OCCT and its treatment, putting an emphasis on its aetiology, biological behaviour and treatment.
Topics: Adult; Child, Preschool; Female; Humans; Jaw Neoplasms; Odontogenic Cyst, Calcifying
PubMed: 17322800
DOI: No ID Found -
Diagnostic Pathology Sep 2022Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying...
BACKGROUND
Hyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentations, affecting 30% of HPT-JT patients. However, OF is easily confused with other fibro-osseous lesions (FOLs) of the jaw. The correct diagnosis of HPT-JT is a real challenge and must be confirmed by genetic testing.
CASE PRESENTATION
A female proband and her father suffered from multiple and recurrent FOLs in the jaw. Considering well demarcated margin and heterogeneous calcified substance lying in a variable density of fibrous stroma, we reached the diagnosis of jaw OF through radiologic and microscopic analyses. Additionally, the proband presented with chronic anemia resulting from menorrhagia, as well as renal mixed epithelial and stromal tumor (MEST). Two patients both presented with no evidence of Hyperparathyroidism (HPT). A germline start codon mutation (c.1A > G) of CDC73 was identified in them. Copy number loss at the CDC73 gene locus was verified in the jaw tumor sample of the proband.
CONCLUSION
Regardless of whether HPT manifestations are present, patients with heritable jaw OF may be at risk for HPT-JT. Genetic testing should be adopted to confirm the diagnosis. Early recognition of HPT-JT helps to better develop tailored treatment plans and surveillance programs.
Topics: Adenoma; Codon, Initiator; Female; Fibroma; Fibroma, Ossifying; Humans; Hyperparathyroidism; Jaw Neoplasms; Kidney Neoplasms; Transcription Factors; Tumor Suppressor Proteins
PubMed: 36153594
DOI: 10.1186/s13000-022-01248-x -
Indian Journal of Cancer 2009Osteosarcomas (OS) of the jaws are uncommon lesions representing 6-8% of skeletal OS. We assessed the characteristics, demographics, prevalence clinical and... (Comparative Study)
Comparative Study
BACKGROUND
Osteosarcomas (OS) of the jaws are uncommon lesions representing 6-8% of skeletal OS. We assessed the characteristics, demographics, prevalence clinical and histopathological findings and distribution of gnathic OS relative to non-gnathic OS in four major treatment centers.
MATERIALS AND METHODS
This study assessed 13 gnathic OS patients of 98 OS patients from four major referral centers during 1996-2007. The age distribution, gender, involved site, clinical findings, signs, symptoms, grade and sub-types were assessed. Hematoxylin-eosin, Picrosirius red, Ponceau trichrome, Masson trichrome and osteoid staining methods were used.
RESULTS
Of the 98 OS lesions, 85 (86.8%) involved the skeleton, the youngest patient was 6 and the oldest 60 years old; 13 lesions (13.2%) involved the jaws (seven mandibular and six maxillary) and the youngest and oldest patients were 15 and 50 years-old, respectively. Non-gnathic OS was more prevalent between the ages of 11 and 20 years (avg. 15 years) and was common in the distal femur and proximal tibia, presenting most frequently with pain and swelling. OS of the jaws, however, presented more than 10 years later than non-gnathic OS, being more prevalent between the ages of 20 and 30 years (avg. 27 years). OS of the jaws most frequently involved the mandibular body and the posterior maxillary alveolar ridge, presenting frequently with pain, swelling and loosening of teeth. Two patients with gnathic OS died during the 10-year follow-up period (15.3%).
CONCLUSION
Prevalence of OS of the jaws was about twice as high as that reported in other studies and presented later than non-gnathic cases. Pain and swelling were common signs and symptoms in this disease. The mixed sub-type was the most common sub-type of gnathic OS.
Topics: Adolescent; Adult; Age Factors; Bone Neoplasms; Child; Female; Humans; Jaw Neoplasms; Male; Middle Aged; Osteosarcoma; Prognosis; Retrospective Studies; Young Adult
PubMed: 19574676
DOI: 10.4103/0019-509X.52958 -
Oncotarget Jan 2017Ameloblastoma of the jaws remains the top difficult to treat odontogenic tumour and has a high recurrence rate. New evidence suggests that non-coding RNAs (ncRNAs) play...
Ameloblastoma of the jaws remains the top difficult to treat odontogenic tumour and has a high recurrence rate. New evidence suggests that non-coding RNAs (ncRNAs) play a critical role in tumourgenesis and prognosis of cancer. However, ameloblastoma ncRNA expression data is lacking. Here we present the first report of ameloblastoma ncRNA signatures. A total of 95 ameloblastoma cases and a global array transcriptome technology covering > 285.000 full-length transcripts were used in this two-step analysis. The analysis first identified in a test cohort 31 upregulated ameloblastoma-associated ncRNAs accompanied by signalling pathways of cancer, spliceosome, mRNA surveillance and Wnt. Further validation in an independent cohort points out the long non-coding (lncRNAs) and small nucleolar RNA (snoRNAs): LINC340, SNORD116-25, SNORA11, SNORA21, SNORA47 and SNORA65 as a distinct ncRNA signature of ameloblastoma. Importantly, the presence of these ncRNAs was independent of BRAF-V600E and SMO-L412F mutations, histology type or tumour location, but was positively correlated with the tumour size. Taken together, this study shows a systematic investigation of ncRNA expression of ameloblastoma, and illuminates new diagnostic and therapeutic targets for this invasive odontogenic tumour.
Topics: Adult; Aged; Ameloblastoma; Female; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; Gene Regulatory Networks; Humans; Jaw Neoplasms; Male; Middle Aged; Oligonucleotide Array Sequence Analysis; RNA, Untranslated; Signal Transduction
PubMed: 27965463
DOI: 10.18632/oncotarget.13889 -
Molecular Genetics & Genomic Medicine May 2023Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence <1/1000000, caused by a pathogenic variant... (Review)
Review
BACKGROUND
Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is the rarest familial cause of primary hyperparathyroidism, with an incidence <1/1000000, caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin, a protein involved in many cellular mechanisms. Patients with HPT-JT have a 15-20% of risk of developing parathyroid carcinoma, whereas it accounts for only 1% of all cases of primary hyperparathyroidism. Patients also develop jaw tumors in 30% of cases, kidney abnormalities in 15% of cases, and uterine tumors in 50% of patients.
CASE REPORT
Here are report two atypical cases of HPT-JT with variable expressivity in the same family. In front of an isolated primary hyperparathyroidism at 28 years of age of incidental discovery following a weight gain, the propositus benefited a first-line panel by Next-Generation Sequencing of the genes involved in familial hyperparathyroidism: CaSR, CDC73, MEN1, and RET. Genetic testing revealed the presence of a pathogenic germline variation CDC73: c.687_688dup; p.Val230Glufs*28, found only in nine families in the literature and allowing the diagnosis of HPT-JT. Given a history of primary hyperparathyroidism at 52 years and adenomyosis, the patient's mother also underwent a genetic analysis that found her daughter's variation and established her inherited trait.
CONCLUSION
In view of the clinical and genotypic heterogeneity, we confirm the interest of using an extended gene panel for the diagnosis of familial primary hyperparathyroidism. CDC73 variations could be more frequent than described in the literature. The association of primary hyperparathyroidism with uterine involvement could be a new indication for analysis.
Topics: Humans; Female; Hyperparathyroidism, Primary; Tumor Suppressor Proteins; Jaw Neoplasms; Fibroma
PubMed: 36639964
DOI: 10.1002/mgg3.2133 -
PloS One 2017Odontogenic tumors (OT) represent a specific pathological category that includes some lesions with unpredictable biological behavior. Although most of these lesions are...
OBJECTIVES
Odontogenic tumors (OT) represent a specific pathological category that includes some lesions with unpredictable biological behavior. Although most of these lesions are benign, some, such as the ameloblastoma, exhibit local aggressiveness and high recurrence rates. The most common types of ameloblastoma are the solid/multicystic (SA) and the unicystic ameloblastoma (UA); the latter considered a much less aggressive entity as compared to the SA. The microRNA system regulates the expression of many human genes while its deregulation has been associated with neoplastic development. The aim of the current study was to determine the expression profiles of microRNAs present in the two most common types of ameloblastomas.
MATERIAL & METHODS
MicroRNA expression profiles were assessed using TaqMan® Low Density Arrays (TLDAs) in 24 samples (8 SA, 8 UA and 8 control samples). The findings were validated using quantitative RTqPCR in an independent cohort of 19 SA, 8 UA and 19 dentigerous cysts as controls.
RESULTS
We identified 40 microRNAs differentially regulated in ameloblastomas, which are related to neoplastic development and differentiation, and with the osteogenic process. Further validation of the top ranked microRNAs revealed significant differences in the expression of 6 of them in relation to UA, 7 in relation to SA and 1 (miR-489) that was related to both types.
CONCLUSION
We identified a new microRNA signature for the ameloblastoma and for its main types, which may be useful to better understand the etiopathogenesis of this neoplasm. In addition, we identified a microRNA (miR-489) that is suggestive of differentiating among solid from unicystic ameloblastoma.
Topics: Adolescent; Adult; Ameloblastoma; Female; Gene Expression Profiling; Humans; Jaw Neoplasms; Male; MicroRNAs; Middle Aged; Young Adult
PubMed: 29053755
DOI: 10.1371/journal.pone.0186841