It was not possible to detect BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma: A diagnostic accuracy study.

BACKGROUND: The objective of this study is to evaluate the diagnostic accuracy of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma. METHODS: This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma-based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of BRAF V600E mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild-type BRAF lesions were included. The participants underwent plasma circulating cell-free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele-specific TaqMan™ real-time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated. RESULTS: Twelve patients with conventional ameloblastoma were included. BRAF V600E mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma-based liquid biopsy circulating cell-free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%. CONCLUSION: Plasma-based liquid biopsy does not seem to be an accurate method for the detection of the BRAF V600E mutation in circulating circulating cell-free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features.

Doenças periodontais em pacientes hivpositivos: uma revisão da literatura / Periodontal disease in HIV-positive patients: a literature review

Many papers indicate that up to 80% of HIV seropositive patients show lesions due to opportunistic infections or malignant neoplasm in oral cavity. Periodontal Diseases (PD) are among the most common oral manifestations in those patients. The aim was to describe the prevalence, the microbiologic characteristics and the clinical forms of PD in HIV seropositive patients. Consultations were conducted in scientific papers on the Virtual Health Library (Biblioteca Virtual em Saúde) - BVS database, from 2007, following selection criteria. The data from the researches varies considerably due to the lack of standardized diagnosis criteria and the methods used. Opportunistic microorganisms usually not related to periodontopathy are frequently found in HIV seropositive patients' oral cavity of and may be related to the rapid progression and severity of the PD in these individuals. The Linear Gingival Erythema (LGE) and the most aggressive and unusual forms of PD, such as Necrotizing Ulcerative Gingivitis (NUG), Necrotizing Ulcerative Periodontitis (NUP) and Necrotizing Ulcerative Stomatitis (NUS), are strongly associated to HIV infection and AIDS. Some authors link the possibility of preexisting PD progress after the HIV infection. The periodontal diseases seem to be linked to HIV infection and AIDS, and can be an important variable in diagnosis and prognosis of these systemic conditions. However, the available researches are not conclusive and there is a need for further studies, with standardized materials and methods, in order to improve the understanding on the mechanisms involved in the association of those pathologies. (AU)

Muitos estudos apontam que até 80% dos indivíduos HIV-positivos apresentam alterações provenientes de infecções oportunistas ou de neoplasia maligna na região da boca e, as Doenças Periodontais (DP) estão entre as mais frequentes manifestações orais nestes pacientes. Objetiva-se descrever a prevalência, as características microbiológicas e as formas clínicas das DP em pacientes HIV-positivos. Foram realizadas consultas em artigos científicos no banco de dados da Biblioteca Virtual em Saúde ­ BVS (a partir de 2007), seguindo critérios de seleção. Os dados de estudos têm variado consideravelmente, devido à falta de padronização nos critérios de diagnóstico e aos métodos utilizados. Microrganismos oportunistas usualmente não relacionados às periodontopatias são encontrados com frequência na cavidade oral de pacientes infectados por HIV e podem relacionar-se à rápida progressão e severidade das DP nestes indivíduos. O Eritema Gengival Linear (EGL) e formas mais agressivas e incomuns das DP, como Gengivite Ulcerativa Necrosante (GUN), Periodontite Ulcerativa Necrosante (PUN) e Estomatite Ulcerativa Necrosante (EUN), estão mais fortemente associadas à infecção por HIV e à AIDS. Alguns autores apontam a possibilidade de progressão das DP pré- existentes após infecção por HIV. Conclui-se que as doenças periodontais parecem apresentar relação com a infecção por HIV e AIDS, podendo ser uma importante variável no diagnóstico e prognóstico destas condições. No entanto, os trabalhos disponíveis atualmente não são conclusivos e, portanto, se fazem necessários novos estudos, com materiais e métodos padronizados, para uma melhor compreensão dos mecanismos envolvidos na associação entre estas patologias (AU)