Objective Parathyroid Carcinoma is a rare malignant neoplasm, accounting for less than 1% of primary hyperparathyroidism cases. Parathyroid carcinomas are characterized by markedly elevated levels of PTH, severe hypercalcemia and established target organ damage. The authors report the experience of a single centre regarding the management and outcome of patients with parathyroid carcinomas and revise relevant literature. Design Retrospective review of all patients with parathyroid carcinoma evaluated at a tertiary oncologic centre from 1991 until 2021. Results Seventeen patients were identified (10 males), with a mean age at diagnosis of 53 ± 16 years and a median follow‐up of 16.5 years. Most patients presented with hypercalcemia (n = 15), with a mean serum calcium concentration of 13.5 mg/dl (9.6–16.5) and mean PTH of 1173 pg/ml (276–2500). Hyperparathyroidism‐mediated organ damage was observed in most patients (n = 16), with predominant renal (n = 12) and skeletal (n = 9) complications. En bloc surgical resection was performed in nine patients. Three patients underwent adjuvant radiotherapy. Recurrence was observed in 8 cases (47.1%) after a median of 24 months following surgery and no independent predictors of recurrence were identified. The overall survival and disease specific survival at 5‐year was 88% and 94%, respectively. CDC73 mutations were present in 38.5% of analysed patients and one patient was diagnosed with MEN1. Conclusion Parathyroid carcinoma is associated with a significant rate of recurrence and limited effective treatment beyond initial complete surgical resection. Therefore, preoperatively high index of suspicion is paramount to optimize patient care. This is, to our knowledge, the largest Portuguese cohort published so far.
Osteosarcomas of the jaws (OSJ) are difficult to diagnose, rare malignant lesions, with uncharacteristic radiographic and clinical presentation. Early diagnosis and treatment are essential to improve long-term prognosis. The current report presents a rare case of a primary conventional osteoblastic osteosarcoma of the anterior maxilla in a 25-year-old female. She presented to a private dental clinic after developing pain, facial oedema and palpation tenderness of a mass associated with the upper right lateral incisor. The signs and symptoms mimicked very closely a regular radiolucent and symptomatic periapical pathology, and the definitive diagnosis was only possible through a combination of clinical, radiographic and histopathological findings. The patient was referred to an oncology facility, where she was submitted to radical excision surgery through a hemi-maxillectomy. Although other pathologies are uncommon, the differential diagnosis of lesions compatible with odontogenic periapical pathology should not be neglected.
Background Despite current improvements in systemic cancer treatment, brain metastases (BM) remain incurable, and there is an unmet clinical need for effective targeted therapies. Methods Here, we sought common molecular events in brain metastatic disease. RNA sequencing of thirty human BM identified the upregulation of UBE2C, a gene that ensures the correct transition from metaphase to anaphase, across different primary tumor origins. Results Tissue microarray analysis of an independent BM patient cohort revealed that high expression of UBE2C was associated with decreased survival. UBE2C-driven orthotopic mouse models developed extensive leptomeningeal dissemination, likely due to increased migration and invasion. Early cancer treatment with dactolisib (dual PI3K/mTOR inhibitor) prevented the development of UBE2C-induced leptomeningeal metastases. Conclusions Our findings reveal UBE2C as a key player in the development of metastatic brain disease and highlight PI3K/mTOR inhibition as a promising anticancer therapy to prevent late-stage metastatic brain cancer.
Despite current improvements in systemic cancer treatment, brain metastases (BM) remain incurable, and there is an unmet clinical need for effective targeted therapies. Here, we sought common molecular events in brain metastatic disease. RNA sequencing of thirty human BM identified the upregulation of UBE2C, a gene that ensures the correct transition from metaphase to anaphase, across different primary tumor origins. Tissue microarray analysis of an independent BM patient cohort revealed that high expression of UBE2C was associated with decreased survival. UBE2C-driven orthotopic mouse models developed extensive leptomeningeal dissemination, likely due to increased migration and invasion. Early cancer treatment with dactolisib (dual PI3K/mTOR inhibitor) prevented the development of UBE2C-induced leptomeningeal metastases. Our findings reveal UBE2C as a key player in the development of metastatic brain disease and highlight PI3K/mTOR inhibition as a promising anticancer therapy to prevent late-stage metastatic brain cancer.
The deposition of colored endogenous or exogenous substances in the tissues of the tongue may result in pigmented lesions of the lingual mucosa. The accurate identification of the underlying condition can be difficult to achieve and relies mainly on patient history and clinical and histological evaluation. We present the case of a 30-year-old male referred to our hospital with a chief complaint of extensive pigmentation of the lingual dorsum. A diagnosis of physiologic pigmentation based on clinical and histological findings was made. Since some life-threatening diseases may present solely as pigmented lesions of the tongue, an early diagnosis is of utmost importance.
Introduction: Malignant peripheral nerve sheath tumor (MPNST) is rare soft tissue sarcoma that arises from a peripheral nerve or shows nerve sheath differentiation. Case Report: We present a case of a 43-year-old female diagnosed with neurofibromatosis type 1 and with a plexiform neurofibroma of the infratemporal fossa (IF) evolving for about four years. Examination revealed facial asymmetry with the prominence of the right hemiface, without facial pain, motor deficits or facial numbness. The magnetic resonance imaging (MRI) showed a lesion in right IF with well-defined limits and 18F-FDG positron emission tomography/computed tomography (PET/CT) showed intense metabolism that was attributed to malignant transformation. Cytology confirmed a MPNST. Excision of the IF lesion by maxillary swing approach was performed. The anatomopathological evaluation of the lesion revealed a 7×6×3 cm high grade MPNST arising within a neurofibroma. The excision was juxtalesional. The tumor was staged at pT3cN0M0, IIIB. The patient underwent adjuvant radiotherapy. Currently, after 12 months of follow-up, the patient is asymptomatic, without neurologic deficits. The MRI performed three months after the end of radiotherapy shows no evidence of tumor recurrence. Conclusion: The only known definitive curative treatment for MPNST is complete surgical resection with wide negative margins. The maxillary swing approach delivers wide tumor exposure, providing controlled dissection with minimizing morbidity. Despite maximal efforts, MPNSTs are usually highly aggressive. Increased tumor size and high-grade morphology, features which were observed in our patient, have been identified as factors that negatively affect long-term survival. We encourage a multidisciplinary approach in the management of these rare tumors to optimize outcomes.
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