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International Journal of Molecular... Feb 2024A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as... (Review)
Review
A total of 1 out of 10 patients with primary hyperparathyroidism (PHP) presents an underlying genetic form, such as multiple endocrine neoplasia types 1, 2A, etc., as well as hyperparathyroidism-jaw tumour syndrome (HJT). We aimed to summarise the recent data, thus raising more awareness regarding HJT, from the clinical perspective of PHP in association with the challenges and pitfalls of genetic testing and parafibromin staining. This narrative review included a sample-focused analysis from the past decade according to a PubMed search. We identified 17 original human studies (≥4 patients per article). The mean age at disease onset was between 20.8 and 39.5 years, while the largest study found that 71% of patients had HJT recognised before the age of 30. Males and females seemed to be equally affected, in contrast with sporadic PHP. PHP represented the central manifestation of HJT, occurring as the first manifestation in up to 85% of HJT cases. A biochemistry panel found a mean serum calcium level above the level of 12 mg/dL in PHP. PTH was elevated in HJT as well, with average values of at least 236.6 pg/mL. The most frequent pathological type in PHP was a parathyroid adenoma, but the incidence of a parathyroid carcinoma was much higher than in non-HJT cases (15% of all parathyroid tumours), with the diagnosis being established between the age of 15 and 37.5. In some families up to 85% of carriers suffered from a parathyroid carcinoma thus indicating that certain pathogenic variants may harbour a higher risk. An important issue in HJT was represented by the parafibromin profile in the parathyroid tumours since in HJT both parathyroid adenomas and carcinomas might display a deficient immunoreactivity. Another frequent manifestation in HJT was ossifying fibromas of the jaw (affecting 5.4% to 50% of patients; the largest study found a prevalence of 15.4%). HJT was associated with a wide variety of kidney lesion (mostly: kidney cysts, with a prevalence of up to 75%, and renal tumours involved in 19% of patients). The risk of uterine lesions seemed increased in HJT, especially with concern to leiomyomas, adenofibromas, and adenomyosis. The underlying pathogenic mechanisms and the involvement of pathogenic variants and parafibromin expression are yet to be explored. Currently, the heterogeneous expression of parafibromin status and, the wide spectrum of mutations including the variety of clinical presentations in HJT, make it difficult to predict the phenotype based on the genotype. The central role of HJT-PHP is, however, the main clinical element, while the elevated risk of parathyroid carcinoma requires a special awareness.
Topics: Male; Female; Humans; Young Adult; Adult; Parathyroid Neoplasms; Jaw Neoplasms; Hyperparathyroidism; Fibroma; Transcription Factors; Tumor Suppressor Proteins; Adenoma
PubMed: 38396977
DOI: 10.3390/ijms25042301 -
Indian Journal of Pathology &... Apr 2024Sinonasal teratocarcinosarcoma (SNTCS) is an extremely rare and aggressive malignant tumor arising in the sinonasal tract, having a combined clinicopathological feature...
Sinonasal teratocarcinosarcoma (SNTCS) is an extremely rare and aggressive malignant tumor arising in the sinonasal tract, having a combined clinicopathological feature of teratoma and carcinosarcoma. It shows a male predominance and affects adults with an age range of 18-79 years and a mean age of 60 years. Here, we report a case of SNTCS in a 14-year-old male patient who presented with swelling over the upper right alveolus and pain in the right jaw for 2 months. The tumor was completely removed by right total maxillectomy with orbital mess reconstruction, and postoperative radiotherapy with chemotherapy was given. The follow-up of the patient for 2 years has shown evidence of recurrence and is now on palliative care.
Topics: Humans; Male; Adolescent; Carcinosarcoma; Teratoma; Paranasal Sinus Neoplasms; Histocytochemistry; Nose Neoplasms; Microscopy; Treatment Outcome; Tomography, X-Ray Computed
PubMed: 38391375
DOI: 10.4103/ijpm.ijpm_1164_21 -
Indian Journal of Pathology &... Apr 2024Adenoid ameloblastoma with dentinoid (AAD) is a hybrid odontogenic tumor comprising histopathological presentation of ameloblastoma (AM) and adenomatoid odontogenic...
BACKGROUND
Adenoid ameloblastoma with dentinoid (AAD) is a hybrid odontogenic tumor comprising histopathological presentation of ameloblastoma (AM) and adenomatoid odontogenic tumor (AOT) along with extracellular dentinoid material.
CASE PRESENTATION
A 35-year-old female reported an asymptomatic swelling in the left mandibular posterior region. Histopathological examination revealed composite features of AM with AOT along with dentinoid material, which stained positively with Van Gieson and trichrome stains.
CONCLUSION
The present case report serves to add further to the modicum of literature reports pertaining to AAD, which may gain recognition as a distinct entity in future World Health Organization (WHO) classification of odontogenic tumors.
Topics: Humans; Female; Adult; Ameloblastoma; Odontogenic Tumors; Mandibular Neoplasms; Mandible
PubMed: 38391318
DOI: 10.4103/ijpm.ijpm_186_22 -
Journal of Veterinary Diagnostic... Feb 2024Orofacial masses or swellings are a common presenting complaint in lagomorphs. Similar gross appearances of the masses can complicate clinical interpretation, and...
Orofacial masses or swellings are a common presenting complaint in lagomorphs. Similar gross appearances of the masses can complicate clinical interpretation, and histologic review often provides the final diagnosis. Underlying causes vary from infectious to neoplastic. Although inflammatory changes are most commonly reported, various neoplasms occur, although the prevalence of specific tumor types is relatively unknown. We reviewed retrospectively 120 cases (87.5% biopsy, 12.5% autopsy) of neoplastic and non-neoplastic orofacial masses received from January 2000-February 2023 at 2 institutions: University of Guelph, Canada (Animal Health Laboratory and Department of Pathobiology), and Finn Pathologists, United Kingdom. All final diagnoses were achieved through histologic assessment. We included masses or mass-like swellings from the oral cavity, including the mandible and maxilla, and surrounding skin and soft tissues of the oral cavity and jaw. Submissions included pet and commercial (meat and fur) rabbits. Neoplastic lesions were most common (60%), including trichoblastomas, papillomas, melanocytic neoplasms, sarcomas, round-cell tumors, carcinomas (including squamous cell carcinoma), lipomas, odontogenic neoplasms, polyps, osteoma, neuroma, peripheral keratinizing ameloblastoma, and apocrine adenoma. Inflammatory diagnoses (30%) included abscesses, osteomyelitis, dermatitis, and sialadenitis. Other diagnoses (7%) included cysts, as well as hyperplastic skin and proliferative bone lesions. Three cases had no definitive diagnosis. The importance of histologic assessment in diagnosing orofacial "masses" in rabbits is highlighted, given that the most common diagnostic category overall was neoplasia.
PubMed: 38389410
DOI: 10.1177/10406387241234326 -
Esophagus : Official Journal of the... Apr 2024Poor oral health is an independent risk factor for upper-aerodigestive tract cancers, including esophageal cancer. Several studies have investigated short-term outcomes...
BACKGROUND
Poor oral health is an independent risk factor for upper-aerodigestive tract cancers, including esophageal cancer. Several studies have investigated short-term outcomes after esophagectomy and the impact of periodontal disease, but few have examined the impact of periodontal disease on long-term outcomes. The purpose of this study was to investigate the rate of periodontitis among esophagectomy patients and the prognostic value of periodontitis and its effect on prognosis after esophagectomy.
METHODS
A total of 508 patients who underwent esophagectomy received oral health care from a dentist before cancer treatment at Akita University Hospital between January 2009 and December 2021. We assessed the presence and severity of the patients' periodontitis and divided them into no-periodontitis, mild periodontitis, severe periodontitis and edentulous jaw groups. We then assessed 10-year overall survival (OS) and disease-specific survival (DSS) and determined whether periodontitis was an independent prognostic factor affecting OS and DSS.
RESULTS
We found that 101 (19.9%) patients had no periodontitis, 207 (40.8%) had mild periodontitis, 176 (34.6%) had severe periodontitis requiring tooth extraction, and 24 (4.7%) had edentulous jaw. Both OS and DSS were significantly poorer in the periodontitis than no-periodontitis group (p < 0.001). In detail, the edentulous jaw group had the poorest prognosis (p < 0.001). Multivariate analysis showed that periodontitis was an independent risk factor affecting OS and DSS.
CONCLUSION
Esophageal cancer patients had a high prevalence of periodontitis. Moreover, the presence of periodontitis and severity of periodontitis are independent risk factors contributing to a poorer prognosis after esophagectomy.
Topics: Humans; Esophagectomy; Neoplasm Staging; Esophageal Neoplasms; Prognosis; Periodontitis; Jaw, Edentulous
PubMed: 38376617
DOI: 10.1007/s10388-024-01045-z -
Journal of Cancer Research and... Oct 2023Osteosarcoma (OS) is the most common primary malignancy of bone excluding hematological malignancies. Most common sites of tumor are long bones of extremities. OS of the...
Osteosarcoma (OS) is the most common primary malignancy of bone excluding hematological malignancies. Most common sites of tumor are long bones of extremities. OS of the jaw are extremely rare with mandible being more commonly after than maxilla. Hereby, we present two cases of OS of jaw with one patient being male and other female.
Topics: Female; Male; Humans; Osteosarcoma; Extremities; Hematologic Neoplasms; Mandible; Bone Neoplasms
PubMed: 38376327
DOI: 10.4103/jcrt.jcrt_2295_21 -
Asian Journal of Surgery May 2024
Topics: Humans; Fibroma; Mandibular Neoplasms; Odontogenic Tumors
PubMed: 38350778
DOI: 10.1016/j.asjsur.2024.01.177 -
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