RESUMO
Solitary plasmacytoma (SP) is an early-stage plasma cell malignancy that is in between monoclonal gammopathy of undetermined significance (MGUS) and multiple myeloma (MM) along the spectrum of plasma cell disorders. SPs can be divided into 2 groups according to location: solitary bone plasmacytoma (SBP) - these occur most commonly in the vertebrae and secondarily in long bones, and extramedullary plasmacytoma (EMP) - these encompass all nonosseus SPs. The etiology is still unknown, and they generally display a destructive course with preponderance of males. Both lesions present a risk of progression to multiple myelom. Its presence in jaws is extremely rare and when it is seen, angulus and ramus mandible are most common sites of occurrence. Histopathological examination and systemic investigation are mandatory for confirmation but support of immunohistochemistry positivity for CD138 was also done for establishing the final diagnosis.
RESUMO
The advancements in epigenetics of oral squamous cell carcinoma (OSCC), are made in regard to DNA hypermethylation of MGMT, DAPK, ECAD (E-cadherin) and p16, as an important component of oral carcinogenesis and new potential biomarkers in molecular diagnostic strategies. The objective of the study was to evaluate the methylation status of the proposed genes and their possible role in the tumor genesis and diagnosis of OSCC. MATERIALS AND METHODS: From sixty surgically treated and molecularly analyzed patients, we obtained three groups of bioptical materials: tumor, normal contralateral and healthy tissues. Comparison of the frequencies of DNA methylation for all transcripts was utilized to validated their potential role in the cancerogenesis and detection of OSCC. RESULTS: The most often methylated genes in the tumor samples were ECAD, MGMT, DAPK followed by p16 genes (90% vs 75% vs 75% vs 52,5%), respectively. We observed frequent methylated genes in contralateral mucosa and consistently unmethylated- 0% in healthy samples. ECAD methylated genes showed the highest sensitivity for diagnosing OSCC in tumor and contralateral tissues (90% and 89,7% respectively, with a specificity of 100%). CONCLUSION: ECAD and MGMT have tumor-specific signatures and can be considered as potential noninvasive diagnostic biomarkers in OSCC.
Assuntos
Carcinogênese/genética , Carcinoma de Células Escamosas/diagnóstico , Metilação de DNA , Neoplasias Bucais/diagnóstico , Regiões Promotoras Genéticas/genética , Biomarcadores Tumorais/genética , Caderinas/genética , Carcinoma de Células Escamosas/genética , Estudos de Casos e Controles , Metilação de DNA/genética , Metilases de Modificação do DNA/genética , Enzimas Reparadoras do DNA/genética , DNA de Neoplasias/genética , Proteínas Quinases Associadas com Morte Celular/genética , Genes p16 , Humanos , Neoplasias Bucais/genética , Proteínas Supressoras de Tumor/genéticaRESUMO
BACKGROUND: The hyperparathyroidism (HPT) is a condition in which the parathyroid hormone (PTH) levels in the blood are increased. HPT is categorised into primary, secondary and tertiary. A rare entity that occurs in the lower jaw in association with HPT is the so-called brown tumour, which an osteolytic lesion is predominantly occurring in the lower jaw. It is usually a manifestation of the late stage of the disease. Osteosclerotic changes in other bones are almost always associated with renal osteodystrophy in secondary HPT and are extremely rare in primary HPT. This article reports a rare case of a brown tumour in the mandible as the first sign of a severe primary HPT, associated with osteosclerotic changes on the skull. CASE REPORT: A brown tumour in the mandible was diagnosed in 60 - year old female patient with no previous history of systemic disease. The x - rays showed radiolucent osteolytic lesion in the frontal area of the mandible affecting the lamina dura of the frontal teeth, and skull osteosclerosis in the form of salt and pepper sign. The blood analyses revealed increased values of PTH, calcitonin and ß - cross-laps, indicating a primary HPT. The scintigraphy of the parathyroid glands showed a presence of adenoma in the left lower lobe. The tumour lesion was surgically removed together with the lower frontal teeth, and this was followed by total parathyroidectomy. The follow - up of one year did not reveal any signs of recurrence. CONCLUSION: It is critical to ensure that every osteolytic lesion in the maxillofacial region is examined thoroughly. Moreover, a proper and detailed systemic investigation should be performed. Patients should undergo regular check-ups to prevent late complications of HPT.
