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Frontiers in Endocrinology 2024Hereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these,...
BACKGROUND
Hereditary primary hyperparathyroidism (PHPT) accounts for 5-10% of all PHPT cases, necessitating genetic testing for diagnosis and management. Among these, hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant disorder caused by mutations with variable clinical presentations and incomplete symptoms.
CASE SUMMARY
The proband, diagnosed with PHPT, underwent parathyroidectomy at the age of 41 with pathological examination of parathyroid carcinoma (PC). Hereditary PHPT was initially suspected due to the early-onset PHPT and family history. Genetic testing identified a heterozygous mutation, NM_024529.4: c. 687_688delAG (p. Arg229Serfs*37). Even in the absence of jaw tumors, the diagnosis of HPT-JT was confirmed based on the discovery of renal cysts. A secondary thyroidectomy was performed to reduce the risk of recurrence.
CONCLUSION
Genetic testing is strongly recommended in cases of early-onset PHPT, family history, jaw tumors, renal and uterine involvement, atypical parathyroid tumors, and PC. This testing provides valuable information for personalized management, and counseling is available for affected families.
Topics: Humans; Adenoma; Fibroma; Hyperparathyroidism; Jaw Neoplasms; Mutation; Parathyroid Neoplasms; Tumor Suppressor Proteins; Adult
PubMed: 38348418
DOI: 10.3389/fendo.2024.1330185 -
Oral and Maxillofacial Surgery Jun 2024Noonan syndrome (NS) is a phenotypically variable inherited multi-system disorder. Maxillofacial findings can be diagnostic, especially in the evaluation of discrete...
Noonan syndrome (NS) is a phenotypically variable inherited multi-system disorder. Maxillofacial findings can be diagnostic, especially in the evaluation of discrete facial dysmorphia. Diagnostic landmark findings of therapeutic relevance for the jaws such as central giant cell granuloma (CGCG) are rare in NS. However, recent molecular genetic studies indicate that these rare, benign lesions are neoplasms and more common in specific syndromes grouped under the umbrella term RASopathies. A specialist surgical diagnosis can be helpful in identifying the underlying disease. This report outlines diagnosis and treatment of a case of CGCG for which jaw diagnosis became the key to identifying a syndromic disease.
Topics: Humans; Noonan Syndrome; Granuloma, Giant Cell; Diagnosis, Differential; Male; Female; Mandibular Diseases; Jaw Diseases
PubMed: 38347383
DOI: 10.1007/s10006-024-01209-2 -
Oral and Maxillofacial Surgery Jun 2024Jaw-stretching devices, including the Amplification, Resistance, and Kinetics of the Jaw (ARK-JSD), are an effective option for treating trismus after head and neck...
PURPOSE
Jaw-stretching devices, including the Amplification, Resistance, and Kinetics of the Jaw (ARK-JSD), are an effective option for treating trismus after head and neck cancer (HNC) treatment. The force, however, that is applied to the patient's jaw is unknown.
METHODS
Ten ARK-JSD devices were constructed for each of the levels of resistance (total of 30 samples). Each sample was tested using a Universal Testing Machine (UTM).
RESULTS
The easy, medium, and hard ARK-JSD had a mean maximum force of 12.3, 21.0, and 32.7 Newtons (N) at a mean interincisal distance (IID) of 8.0 mm, 13.0 mm, and 16.0 mm, respectively. The force varied by 6.9 N for the easy and 24.1 N for the hard ARK-JSD. Fatigue analysis demonstrated up to 5.5 N loss of force over 10 weeks.
CONCLUSION
The ARK-JSD is a low-cost trismus device that can force between 12.3 and 32.7 N. The variation in resistance may impact efficacy. Understanding this variation will assist clinicians and patients using the ARK-JSD for trismus therapy.
Topics: Trismus; Humans; Head and Neck Neoplasms; Equipment Design; Kinetics
PubMed: 38319397
DOI: 10.1007/s10006-024-01218-1 -
Beijing Da Xue Xue Bao. Yi Xue Ban =... Feb 2024To analyze the three-dimensional radiographic characteristics of calcifying odontogenic cyst and calcifying epithelial odontogenic tumor using spiral computed tomography...
OBJECTIVE
To analyze the three-dimensional radiographic characteristics of calcifying odontogenic cyst and calcifying epithelial odontogenic tumor using spiral computed tomography (CT) and cone-beam computed tomography (CBCT).
METHODS
Clinical records, histopathological reports, and CBCT or non-enhanced spiral CT images of 19 consecutive patients with calcifying odontogenic cyst (COC) and 16 consecutive patients with calcifying epithelial odontogenic tumor (CEOT) were retrospectively acquired, and radiographic features, including location, size, expansion, internal structure and calcification, were analyzed.
RESULTS
Among the 19 COC cases (12 males and 7 females, with an average age of 27 years), 89.5% (17/19) of the lesions originated from the anterior and premolar areas, 100.0% of them exhibited cortex expansion, and 78.9% had discontinued cortex. Among the 16 CEOT cases (3 males and 13 females, with an average age of 36 years), 81.3% (13/16) of the lesions were in the premolar and molar areas, 56.3% of them exhibited cortex expansion, and 96.8% had discontinued cortex. According to the distribution of internal calcifications, these lesions were divided into: Ⅰ (non-calcification type): absence of calcification; Ⅱ (eccentric marginal type): multiple calcifications scattered along one side of the lesion; Ⅲ (diffused type): numerous calcifications diffusely distributed into the lesion; Ⅳ (plaque type): with a ≥ 5 mm calcified patch; Ⅴ (peri-coronal type): multiple calcifications clustered around impacted teeth. Calcifications were present in 73.7% of COC lesions, including 9 type Ⅱ, 3 type Ⅲ and 2 type Ⅳ lesions, and 42.8% of CEOT lesions had calcification images, including 2 type Ⅲ and 5 type Ⅴ lesions. Six COC lesions had odontoma-like images. Moreover, 8 of 9 type Ⅰ CEOTs were histologically Langerhans cell-rich subtype, which had a smaller size (with an average mesiodistal diameter of 17.8 mm) and were not associated with impacted teeth.
CONCLUSION
COC lesions tended to originate from the anterior part of the jaw and exhibit cortex expansion, and were sometimes associated with odontoma. CEOT commonly occurred in the posterior jaw and had discontinued cortex. Two lesions had significantly different calcification map. Over 70% of COC lesions had calcification images, which were mostly scattered along one side of the cysts, far from the impacted teeth. Approximately 60% of CEOT lesions exhibited smaller size and non-calcification, and the remaining CEOT cases often had calcification images clustered around the impacted teeth.
Topics: Male; Female; Humans; Adult; Odontogenic Cyst, Calcifying; Odontoma; Retrospective Studies; Tooth, Impacted; Odontogenic Tumors; Odontogenic Cysts; Calcinosis; Skin Neoplasms
PubMed: 38318907
DOI: 10.19723/j.issn.1671-167X.2024.01.020 -
BMC Oral Health Feb 2024The range of mandibular invasion by a tumour needs to be determined accurately to minimize unnecessary damage to the mandible. This study aimed to compare tumour...
BACKGROUND
The range of mandibular invasion by a tumour needs to be determined accurately to minimize unnecessary damage to the mandible. This study aimed to compare tumour boundary lines on computed tomography/magnetic resonance (CT/MR) images with those from pathological findings during the preoperative assessment of mandibular invasion by oral squamous cell carcinoma (OSCC). By comparing the methods, the potential of CT/MR for this application could be further elucidated.
METHODS
Eight patients with OSCC were imaged with CT/MR, mandibular specimens were collected, and the material site was measured. Haematoxylin-eosin staining was used for histopathological assessment. The presence and boundaries of bone invasion were evaluated. The CT/MR and histopathological boundaries of bone invasion were delineated and merged to compare and calculate the deviation of CT/MR and histopathological boundaries using the Fréchet distance.
RESULTS
The mean Fréchet distance between the CT and pathological tumour boundaries was 2.69 mm (standard error 0.46 mm), with a minimum of 1.18 mm, maximum of 3.64 mm, median of 3.10 mm, and 95% confidence interval of 1.40-3.97 mm. The mean Fréchet distance between the tumour boundaries on the MR and pathological images was 3.07 mm (standard error 0.56 mm), with a minimum of 1.53 mm, maximum of 4.74 mm, median of 2.90 mm, and 95% confidence interval of 1.53-4.61 mm.
CONCLUSIONS
CT/MR imaging can provide an effective preoperative assessment of mandibular invasion of OSCC. Pathology images can be positioned on CT/MR scans with the help of computer software to improve the accuracy of the findings. The introduction of the Fréchet distance to compare tumour boundary lines is conducive to computer image diagnosis of tumour invasion of jaw boundaries.
Topics: Humans; Carcinoma, Squamous Cell; Mouth Neoplasms; Squamous Cell Carcinoma of Head and Neck; Sensitivity and Specificity; Neoplasm Invasiveness; Mandible; Tomography, X-Ray Computed; Magnetic Resonance Imaging; Head and Neck Neoplasms
PubMed: 38308269
DOI: 10.1186/s12903-024-03920-8 -
Journal of Applied Clinical Medical... Jun 2024To determine whether a dual-isocenter volumetrically modulated arc therapy (VMAT) technique results in lower normal pulmonary dosage compared to a traditional single... (Comparative Study)
Comparative Study
Single isocenter versus dual isocenter treatment using flattening filter-free and jaw-tracking volumetrically modulated arc therapy for boot-shaped lung cancer: Evaluation of dosimetric and feasibility.
BACKGROUND
To determine whether a dual-isocenter volumetrically modulated arc therapy (VMAT) technique results in lower normal pulmonary dosage compared to a traditional single isocenter technique for boot-shaped lung cancer.
METHODS
A cohort of 15 patients with advanced peripheral or central lung cancer who had metastases in the mediastinum and supraclavicular lymph nodes was randomly selected for this retrospective study. VMAT plans were generated for each patient using two different beam alignment techniques with the 6-MV flattening filter-free (FFF) photon beam: single-isocenter jaw-tracking VMAT based on the Varian TrueBeam linear accelerator (S-TV), and dual-isocenter VMAT based on both TrueBeam (D-TV) and Halcyon linear accelerator (D-HV). For all 45 treatment plans, planning target volume (PTV) dose coverage, conformity/homogeneity index (CI/HI), mean heart dose (MHD), mean lung dose (MLD) and the total lung tissue receiving 5, 20, 30 Gy (V, V, V) were evaluated. The monitor units (MUs), delivery time, and plan quality assurance (QA) results were recorded.
RESULTS
The quality of the objectives of the three plans was comparable to each other. In comparison with S-TV, D-TV and D-HV improved the CI and HI of the PTV (p < 0.05). The MLD was 13.84 ± 1.44 Gy (mean ± SD) for D-TV, 14.22 ± 1.30 Gy and 14.16 ± 1.42 Gy for S-TV and D-HV, respectively. Lungs-V was 50.78 ± 6.24%, 52.00 ± 7.32% and 53.36 ± 8.48%, Lungs-V was 23.72 ± 2.27%, 26.18 ± 2.86% and 24.96 ± 3.09%, Lungs-V30Gy was 15.69 ± 1.76%, 17.20 ± 1.72% and 16.52 ± 2.07%. Compared to S-TV, D-TV provided statistically significant better protection for the total lung, with the exception of the lungs-V. All plans passed QA according the gamma criteria of 3%/3 mm.
CONCLUSIONS
Taking into account the dosimetric results and published clinical data on radiation-induced pulmonary injury, dual-isocenter jaw-tracking VMAT may be the optimal choice for treating boot-shaped lung cancer.
Topics: Humans; Radiotherapy, Intensity-Modulated; Radiotherapy Planning, Computer-Assisted; Lung Neoplasms; Radiotherapy Dosage; Organs at Risk; Retrospective Studies; Feasibility Studies; Particle Accelerators
PubMed: 38286001
DOI: 10.1002/acm2.14292 -
Radiology. Imaging Cancer Jan 2024Interpretation of posttreatment imaging findings in patients with head and neck cancer can pose a substantial challenge. Malignancies in this region are often managed... (Review)
Review
Interpretation of posttreatment imaging findings in patients with head and neck cancer can pose a substantial challenge. Malignancies in this region are often managed through surgery, radiation therapy, chemotherapy, and newer approaches like immunotherapy. After treatment, patients may experience various expected changes, including mucositis, soft-tissue inflammation, laryngeal edema, and salivary gland inflammation. Imaging techniques such as CT, MRI, and PET scans help differentiate these changes from tumor recurrence. Complications such as osteoradionecrosis, chondroradionecrosis, and radiation-induced vasculopathy can arise because of radiation effects. Radiation-induced malignancies may occur in the delayed setting. This review article emphasizes the importance of posttreatment surveillance imaging to ensure proper care of patients with head and neck cancer and highlights the complexities in distinguishing between expected treatment effects and potential complications. CT, MR Imaging, Radiation Therapy, Ear/Nose/Throat, Head/Neck, Nervous-Peripheral, Bone Marrow, Calvarium, Carotid Arteries, Jaw, Face, Larynx © RSNA, 2024.
Topics: Humans; Neoplasm Recurrence, Local; Head and Neck Neoplasms; Osteoradionecrosis; Radiation Injuries; Positron-Emission Tomography
PubMed: 38276904
DOI: 10.1148/rycan.230155 -
Clinical Oral Investigations Jan 2024The primary aim of the present study was to compare head and neck cancer treatment modality surgery and surgery with radiotherapy or chemoradiotherapy alone for dental... (Observational Study)
Observational Study
Survival of dental implants and occurrence of mucosal overgrowth in patients with head and neck cancer treated with/without radiotherapy and mucosal graft-two-year follow-up.
OBJECTIVES
The primary aim of the present study was to compare head and neck cancer treatment modality surgery and surgery with radiotherapy or chemoradiotherapy alone for dental implant (DI) survival. The second aim was to evaluate the prevalence of mucosal overgrowth around DI after treatment with or without mucosal grafts.
MATERIALS AND METHODS
An observational retrospective study consisted of 59 patients with malignant head and neck tumors that received DI between 2015 and 2019. Treatment modalities together with information on oral rehabilitation with DI, prevalence of mucosal overgrowth, and precursor lesions were gathered from the hospital records. Radiation doses were determined using a sum of three-dimensional dose distributions.
RESULTS
Overall DI survival rate was 88%, in irritated jaw 89%, and in nonirradiated jaw 88% in this observational period (p = 0.415, mean follow-up was 2 years 10 months, range 9-82 months). Mucosal overgrowth was found in 42 of 196 implants (21%), of which 36 cases (86%) were associated in grafted areas (p < 0.001). Oral lichen planus/lichenoid reaction was diagnosed in 14 of all 59 (24%) oral cancer patients.
CONCLUSION
Implant survival was not significantly influenced by radiation therapy in this observational period. In grafted bone, implant survival was significantly inferior than in native bone. Mucosal overgrowth around implants was more common in mucosal grafted areas versus nongrafted.
CLINICAL RELEVANCE
This study demonstrates the impact of grafted bone to dental implant survival rate and mucosal overgrowth.
Topics: Humans; Dental Implants; Dental Implantation, Endosseous; Follow-Up Studies; Retrospective Studies; Dental Restoration Failure; Head and Neck Neoplasms
PubMed: 38273180
DOI: 10.1007/s00784-023-05479-0 -
Current Oncology (Toronto, Ont.) Jan 2024We aimed to evaluate the use of CDK4/6 inhibitors as a risk factor for medication-related osteonecrosis of the jaw (MRONJ) in a cohort of patients with metastatic breast... (Observational Study)
Observational Study
OBJECTIVE
We aimed to evaluate the use of CDK4/6 inhibitors as a risk factor for medication-related osteonecrosis of the jaw (MRONJ) in a cohort of patients with metastatic breast cancer treated with denosumab.
METHODS
This was a multicentre, retrospective, observational study. All patients with breast cancer treated with denosumab (January 2011-December 2022) were included. The relationship between CDK4/6 inhibitors and MRONJ was analysed.
RESULTS
A total of 243 patients were included, ninety-five (44.2%) of whom used a CDK4/6 inhibitor. There were 21 patients with MRONJ. In patients treated with denosumab without CDK4/6 inhibitors, the incidence of MRONJ and mean time to the occurrence of MRONJ were 6.6% (8/120) and 16.8 months (SD 7.8), respectively; in patients treated with denosumab and CDK4/6 inhibitor, these values were 13.7% (13/95) and 15.4 months (SD 8.7), respectively. The difference in the incidence was not significant ( = 0.085). Among the 19 patients who used abemaciclib, the probability of MRONJ occurrence was significantly higher compared to patients not using CDK4/6 inhibitors ( = 0.0178).
CONCLUSIONS
These results suggest that the incidence of MRONJ in patients with metastatic breast cancer treated with denosumab is higher, and the onset of MRONJ occurs earlier in the presence of CDK4/6 inhibitors. The differences were statistically significant in the patients who used abemaciclib. Given that the use of this combination is very common in routine clinical practice, it would be advisable to carry out larger prospective studies to clarify the risk of this association.
Topics: Humans; Female; Breast Neoplasms; Denosumab; Prospective Studies; Retrospective Studies; Osteonecrosis; Cyclin-Dependent Kinase 4; Aminopyridines; Benzimidazoles
PubMed: 38248101
DOI: 10.3390/curroncol31010016 -
Journal of Dentistry (Shiraz, Iran) Dec 2023Metastatic lesions of the jaws are a diagnostic challenge because of their scarcity and uncharacteristic clinical-radiographic features. Carcinoma of unknown primary...
Metastatic lesions of the jaws are a diagnostic challenge because of their scarcity and uncharacteristic clinical-radiographic features. Carcinoma of unknown primary origin (CUP) is characterized by the existence of metastatic disease with no recognized primary neoplasm after a comprehensive work-up. CUP shows a poor prognosis with limited treatment choices. This paper presents a 64-year-old male with a chief complaint of paresthesia of the chin and lower lip. Panoramic radiography showed an ill-defined radiolucency in the left mandibular molar area and the residue of the first molar root. Microscopic examination demonstrated features of mucin-producing adenocarcinoma and was not similar to common neoplasms of the jaw. The whole-body scan revealed multiple osseous uptakes. CDX2 was diffusely positive. However, in the end, the origin of the primary tumor was not determined. Considering the aforementioned data, the diagnosis of metastatic adenocarcinoma with unknown primary origin was made. CUP of the oral cavity is an extremely rare event. The possibility of metastasis should be raised in a patient who complains of paresthesia. Awareness of the clinical and histopathologic features of these malignancies is crucial for clinicians and pathologists to have a proper diagnosis.
PubMed: 38149229
DOI: 10.30476/dentjods.2023.97749.2034