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Orphanet Journal of Rare Diseases Feb 2024Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This...
Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This contributes to uncertainty surrounding rare diseases, which can hinder the management of these chronic conditions. An analysis of my family's experience battling my mother's ameloblastic carcinoma highlights the difficulties in communicating the uncertainty around rare diseases and their damaging effects on our family's well-being. Here, we will recognize the importance of acknowledging uncertainty during diagnoses and advocating for enhanced detection strategies. The goal of this article is to emphasize that effective medical communication around rare diseases, accessibility to accurate information, proper services, and a shift toward a culture that prioritizes patient well-being are critical for improving health outcomes for rare disease patients.
Topics: Humans; Uncertainty; Rare Diseases; Family; Communication; Delivery of Health Care
PubMed: 38403651
DOI: 10.1186/s13023-024-03050-y -
Journal of Oral Pathology & Medicine :... Mar 2024Ameloblastic carcinoma (AC) is the most common odontogenic malignancy, constituting approximately 30% of cases in this category. Literature is sparse on malignant... (Review)
Review
BACKGROUND
Ameloblastic carcinoma (AC) is the most common odontogenic malignancy, constituting approximately 30% of cases in this category. Literature is sparse on malignant odontogenic neoplasms, with a large proportion of current knowledge derived from case reports or small case series.
METHODS
A systematic review of case series/case reports of AC was conducted following the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) Statement guidelines. Demographic and clinical information, including duration of the lesion, location, clinical presentation and radiologic features, were analysed. Additionally, the origin of the lesion (primary/secondary), Ki-67 proliferation index, treatment performed, metastasis, tumour recurrence and prognosis were collected for analysis.
RESULTS
A total of 126 studies, including 285 individual cases of AC, were included in this review. Patients presented with a near-equal distribution of painless and painful swellings. ACs presented at a median age of 45 years, with a male-to-female ratio of 1:2. The mandible was most frequently involved, with rare cases extending to involve more than one region, including crossing the midline. Although most lesions presented with poorly-demarcated borders (52.6%), unilocular lesions with well-demarcated borders (47.4%) comprised a substantial number in the sample. The proliferation index was only reported in 27 cases, with a mean score of 42% and a wide range. The probability of tumour recurrence increased, and the survival probability decreased with prolonged follow-up duration.
CONCLUSION
This study provides more comprehensive, up-to-date descriptive data on these rare odontogenic malignancies, aiding clinicians and Pathologists with the diagnosis and surgeons in their management of cases.
Topics: Humans; Male; Female; Middle Aged; Neoplasm Recurrence, Local; Odontogenic Tumors; Mandible; Prognosis; Carcinoma
PubMed: 38368851
DOI: 10.1111/jop.13517 -
Oral Oncology Mar 2024
Topics: Humans; Ameloblastoma; Odontogenic Tumors; Mandibular Neoplasms; Carcinoma
PubMed: 38271776
DOI: 10.1016/j.oraloncology.2024.106704 -
Case Reports in Dentistry 2024Peripheral ameloblastic carcinoma is an extremely rare odontogenic carcinoma. Its histopathological feature is identical to the intraosseous type. This case report...
Peripheral ameloblastic carcinoma is an extremely rare odontogenic carcinoma. Its histopathological feature is identical to the intraosseous type. This case report details a case of peripheral ameloblastic carcinoma at the right posterior maxilla region in a 60-year-old Thai male. The patient underwent a definitive treatment by partial maxillectomy and reconstruction with buccal fat pad. After 1-year follow-up, no recurrence of the lesion was found.
PubMed: 38229833
DOI: 10.1155/2024/4289276 -
Journal of Oral Pathology & Medicine :... Jan 2024Ameloblastoma and ameloblastic carcinoma are epithelial odontogenic tumors that can be morphologically similar. In the present study, we evaluated the DNA content and...
BACKGROUND
Ameloblastoma and ameloblastic carcinoma are epithelial odontogenic tumors that can be morphologically similar. In the present study, we evaluated the DNA content and Ki-67 index in the two tumors.
METHODS
The paraffin blocks of the tumors were selected to obtain sections for the immunohistochemical reactions and preparation of the cell suspension for acquisition in a flow cytometer. The Random Forest package of the R software was used to verify the contribution of each variable to classify lesions into ameloblastoma or ameloblastic carcinoma.
RESULTS
Thirty-two ameloblastoma and five ameloblastic carcinoma were included in the study. In our sample, we did not find statistically significant differences in Ki-67 labeling rates. A higher fraction of cells in 2c (G1) was correlated with the diagnosis of ameloblastoma, whereas higher rates of 5c-exceeding rate (5cER) were correlated with ameloblastic carcinoma. The Random Forest model highlighted histopathological findings and parameters of DNA ploidy study as important features for distinguishing ameloblastoma from ameloblastic carcinoma.
CONCLUSION
Our findings suggest that the parameters of the DNA ploidy study can be ancillary tools in the classification of ameloblastoma and ameloblastic carcinoma.
Topics: Humans; Ameloblastoma; Ki-67 Antigen; Odontogenic Tumors; Carcinoma; Ploidies; DNA
PubMed: 38163857
DOI: 10.1111/jop.13505 -
Cureus Nov 2023Ameloblastoma is a benign yet locally aggressive tumor of the jaw bones and is most commonly found in the lower mandibular region. Histologically, it shows benign...
Ameloblastoma is a benign yet locally aggressive tumor of the jaw bones and is most commonly found in the lower mandibular region. Histologically, it shows benign characteristics. However, ameloblastoma can turn malignant to show a more aggressive clinical course. Carcinoma ex ameloblastoma is an extremely rare malignancy arising from a pre-existing long-standing ameloblastoma or a recurrence of an ameloblastoma. According to the literature search, six to seven cases have so far been documented, and the majority of the lesions had a propensity to metastasize. Here, we present a case of carcinoma ex ameloblastoma implicating a 19-year-old male patient manifesting in the mandible, which arises from pre-existing ameloblastoma.
PubMed: 38156168
DOI: 10.7759/cureus.49536 -
BMC Oral Health Dec 2023Ameloblastoma (AM), the benign counterpart of ameloblastic carcinoma, is a benign odontogenic tumor of epithelial origin, naturally aggressive, with unlimited growth...
BACKGROUND
Ameloblastoma (AM), the benign counterpart of ameloblastic carcinoma, is a benign odontogenic tumor of epithelial origin, naturally aggressive, with unlimited growth potential and a high tendency to relapse if not adequately removed. Patients with AM treated surgically can benefit from dental implant therapy, promoting oral rehabilitation and improving their quality of life. The present study aimed to determine the survival rate of dental implants placed after surgical treatment of patients affected by AM. In addition, there were two secondary objectives: 1) To evaluate which dental implant loading protocols are most frequently used and 2) To determine the type of prosthetic restoration most commonly used in these patients.
METHODS
The Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines were followed during the study. Searches were performed in three databases (PubMed/MEDLINE, Scopus, and Google Scholar) until November 2023. Additionally, the electronic search was enriched by an iterative hand search of journals related to oral pathology and medicine, maxillofacial surgery, and oral prosthodontics and implantology. Only reports and case series in English from January 2003 to date were included. The Joanna Briggs Institute tool (JBI-Case Reports/Case Series) was used for the study quality assessment.
RESULTS
The total number of patients and implants studied were 64 and 271, respectively, all with surgically treated AM. The patient's ages ranged from 8 to 79 years, with a mean (SD) age of 37.3 ± 16.4. Fifty-three percent were male and 47% were female. The range of follow-up duration was 1 to 22 years. An implant survival/success rate of 98.1% was reported. In addition, most of them were conventionally loaded (38.3%). Hybrid implant-supported fixed dentures were the most commonly used by prosthodontists (53%).
CONCLUSIONS
Oral rehabilitation with dental implants inserted in free flaps for orofacial reconstruction in surgically treated patients with AM can be considered a safe and successful treatment modality.
Topics: Adolescent; Adult; Aged; Child; Female; Humans; Male; Middle Aged; Young Adult; Ameloblastoma; Dental Implantation, Endosseous; Dental Implants; Dental Prosthesis, Implant-Supported; Dental Restoration Failure; Neoplasm Recurrence, Local; Odontogenic Tumors; Quality of Life; Treatment Outcome
PubMed: 38110933
DOI: 10.1186/s12903-023-03765-7 -
Oral Oncology Jan 2024Ameloblastoma is characterized by aggressive nature, high recurrence rate, occasional malignant transformation, but recurrence and malignant incidence of ameloblastoma...
BACKGROUND
Ameloblastoma is characterized by aggressive nature, high recurrence rate, occasional malignant transformation, but recurrence and malignant incidence of ameloblastoma are not yet addressed by a large-scale case series study.
MATERIALS AND METHODS
This study provided a detailed description of the relationship between demographic characteristics and recurrence and malignant cases with different clinical types of ameloblastoma (n = 1626).
RESULTS
The overall incidence of recurrence and malignancy was 17.2 % and 3.4 %, respectively. Notably, we observed that there were multiple recurrent episodes (mean time, 24.3-28.7 months) among ameloblastoma patients. Multivariate analysis revealed that age of > 45 years (odds ratios (OR), 2.10; 95 % confidence interval (CI), 1.17-3.76), male (OR, 3.24; 95 %CI, 1.49-6.99), maxilla (OR, 5.58; 95 %CI, 3.11-10.0), and pre-existing recurrence (OR, 3.79; 95 %CI, 2.05-7.01) as independent factors were associated significantly with increased risk of malignancy.
CONCLUSION
Identification of the clinical factors responsible for increased risk of malignancy provides better insight in management planning for ameloblastoma.
Topics: Humans; Male; Middle Aged; Ameloblastoma; Maxilla; China; Cell Transformation, Neoplastic; Demography
PubMed: 38061123
DOI: 10.1016/j.oraloncology.2023.106651 -
Journal of Oral and Maxillofacial... 2023Ameloblastoma (AM) is considered one of the most common lesions of odontogenic origin. Although it is always considered as benign neoplasm, ameloblastic carcinoma (AC)...
Ameloblastoma (AM) is considered one of the most common lesions of odontogenic origin. Although it is always considered as benign neoplasm, ameloblastic carcinoma (AC) represents its malignant counterpart. It is characterized by the expansion of jaws, rapid growth, and a perforated cortex with well-defined unilocular/multilocular radiolucent lesions. To confirm the diagnosis of AM and AC is extremely crucial. Immunohistochemistry such as SOX2 and Ki67 plays a significant role in the confirmation of diagnosis. Management of these cases is from surgical excision with radical neck dissection. The prognosis is poor with only 5 years of survival. This review presents an interesting case of ex-AC, in which the patient was diagnosed at the same site with peripheral AM 1 year ago.
PubMed: 37854922
DOI: 10.4103/jomfp.jomfp_7_23 -
Oral Diseases Oct 2023BRD4, belonging to the bromodomain extra-terminal (BET) protein family, plays a unique role in tumor progression. However, the potential impact of BRD4 in ameloblastoma...
BACKGROUND
BRD4, belonging to the bromodomain extra-terminal (BET) protein family, plays a unique role in tumor progression. However, the potential impact of BRD4 in ameloblastoma (AM) remains largely unknown. Herein, we aimed to assess the expression and functional role of BRD4 in AM.
METHODS
The expression level of BRD4 was assessed by immunohistochemistry. The proliferation, migration, invasion, and tumorigenic abilities of AM cells were assessed by a series of assays. To explore the molecular expression profile of BRD4-depleted AM cells, RNA sequencing (RNA-seq) was performed. Bioinformatic analysis was performed on AM expression matrices obtained from the Gene Expression Omnibus (GEO). The therapeutic efficacy of BET-inhibitors (BETi) was assessed with AM patient-derived organoids.
RESULTS
Upregulation of BRD4 was observed in conventional AMs, recurrent AMs, and ameloblastic carcinomas. Depletion of BRD4 inhibited proliferation, invasion, migration, and tumorigenesis in AM. Administration of BETi attenuated the aggressiveness of AM and the growth of AM patient-derived organoids. Bioinformatic analysis indicated that BRD4 may promote AM progression by regulating the Wnt pathway and stemness-associated pathways.
CONCLUSION
BRD4 increases the aggressiveness and promotes the recurrence of ameloblastoma by regulating the Wnt pathway and stemness-associated pathways. These findings highlight BRD4 as a promising therapeutic target in AM management.
PubMed: 37798926
DOI: 10.1111/odi.14762