Apresentação atípica de osteossarcoma femoral em paciente de 63 anos: relato de caso / Atypical presentation of femoral osteosarcoma in a 63-year-old patient: case report / Presentación atípica del osteosarcoma de fémur en un paciente de 63 años: informe de un caso

Introdução: O osteossarcoma consiste na neoplasia maligna mais comum do tecido ósseo. Possui seu pico de incidência em pacientes jovens, na segunda década de vida, sendo pouco frequentes os casos em pacientes mais idosos. O tumor se caracteriza por ser produtor de matriz óssea e derivado de células-tronco mesenquimais. A histopatologia da lesão é complementada pela imuno-histoquímica, através da expressão de marcadores como SATB2 e Ki-67. Objetivo: Relatar um caso clínico de paciente em idade atípica de acometimento por osteossarcoma e correlacionar com os dados préexistentes na literatura sobre o tema. Material e Método: Trata-se de relato de caso baseado em levantamento de prontuário de paciente com osteossarcoma. Resultados: Paciente do sexo masculino, 63 anos, apresentando dor e massa palpável em região de joelho direito. Realizados exames de imagem que evidenciaram lesão agressiva, com componentes líticos e escleróticos. Biópsia da lesão mostrou-se sugestiva de osteossarcoma. Após diagnóstico, foi realizada desarticulação coxofemoral de membro inferior direito. O estudo anatomopatológico revelou lesão, medindo 13,0 x 8,0 cm, compatível com osteossarcoma de alto grau, apresentando invasão linfovascular e estadiamento patológico pT3. Conclusão: Osteossarcomas em pacientes idosos configuram uma rara apresentação da neoplasia, sendo de fundamental importância a divulgação de casos na literatura para estabelecimento de condutas entre equipes. (AU)

Introduction: Osteosarcoma is the most common malignant neoplasm of bone tissue. It has its peak incidence in young patients in the second decade of life, and cases in older patients are infrequent. The tumor is characterized by being a producer of bone matrix and derived from mesenchymal stem cells. The histopathology of the lesion is complemented by immunohistochemistry, through the expression of markers such as SATB2 and Ki-67. Objective: To report a clinical case of a patient at atypical age of involvement by osteosarcoma and correlate with pre-existing data in the literature on the subject. Material and Method: This is a case report based on medical records of patients with osteosarcoma. Results: Male patient, 63 years old, presenting pain and palpable mass in the right knee region. Imaging tests were performed that showed aggressive lesion, with lytic and sclerotic components. Biopsy of the lesion was shown to be suggestive of osteosarcoma. After diagnosis, hip dysfunction of the right lower limb was performed. The anatomopathological study revealed lesion, measuring 13.0 x 8.0 cm, compatible with highgrade osteosarcoma, presenting lymphovascular invasion and pathological staging pT3. Conclusion: Osteosarcomas in elderly patients constitute a rare presentation of the neoplasm, being of fundamental importance the disclosure of cases in the literature to establish conducts between teams. (AU)

Introducción: El osteosarcoma es la neoplasia maligna más frecuente del tejido óseo. Tiene su máxima incidencia en pacientes jóvenes en la segunda década de la vida, con casos poco frecuentes en pacientes de mayor edad. El tumor se caracteriza por ser productor de matriz ósea y derivar de células madre mesenquimales. La histopatología de la lesión se complementa con la inmunohistoquímica, mediante la expresión de marcadores como SATB2 y Ki-67. Objetivo: Relatar un caso clínico de paciente en edad atípica de acometimiento por osteosarcoma y correlacionarlo con los datos preexistentes en la literatura sobre el tema. Material y Método: Se trata de un informe de caso basado en la historia clínica de un paciente con osteosarcoma. Resultados: Paciente varón de 63 años que presenta dolor y masa palpable en la región de la rodilla derecha. Los exámenes de imagen mostraron una lesión agresiva con componentes líticos y escleróticos. La biopsia de la lesión fue sugestiva de osteosarcoma. Tras el diagnóstico, se realizó una desarticulación coxofemoral del miembro inferior derecho. El estudio anatomopatológico reveló una lesión de 13,0 x 8,0 cm, compatible con un osteosarcoma de alto grado, que presentaba invasión linfovascular y una estadificación patológica pT3. Conclusión: Los osteosarcomas en pacientes idosos configuran una rara presentación de la neoplasia, siendo de fundamental importancia la divulgación de casos en la literatura para el establecimiento de conductas entre equipos. (AU)

Investigating VEGF. miR-145-3p, and miR-101-3p Expression in Patients with Cholangiocarcinoma.

INTRODUCTION: Cholangiocarcinoma (CCA) is the second most common type of primary liver cancer. Several factors, such as epigenetic changes in promoter genes, gene expression, and microRNAs (miR), can contribute to genomic instability in cancer. This study aimed at evaluating the expression of VEGF, miRs 145-3p, and 101-3p in patients with CCA and their potential as biomarkers for diagnosis and prognosis of CCA. MATERIAL AND METHODS: Sixty two patients were studied. Out of these 62 patients, 41 cases had confirm CCA and 21 cases had hepatopathies complications. The RNA was extracted from a paraffined tissue block, and then the synthesis of cDNA was performed. The analysis of the expression of VEGF, miR-145-3p, and miR-101-3p was carried out by polymerase chain reaction in real time.  Results: The findings revealed that miRs 145-3p and 101-3p were under expressed in the case group compared to the control group (0.46; 0.17; P = 0.0001, respectively). VEGF was overexpressed in the case group compared to the control group (11.8; P = 0.0001). An increase in miR-145-3p expression level was observed in patients with perihilar CCA compared to those with distal CCA (0.51 ± 0.41; 0.17 ± 0.13; P = 0.0698). Survival rate analysis showed that 41.9% of patients with intrahepatic CCA and 31.5% of patients with extrahepatic CCA were free from death within 11 months, leading to a significant difference (P> 0.05). CONCLUSION: The underexpression of miRNAs, tumor suppressors, the overexpression of VEGF, smoking, and aging were associated with CCA based on our findings. It seems that the reduced expression of the studies miRNAs and increased expression of VEGF can contribute to a decrease in survival rate of patients with tumor in their intrahepatic bile ducts.

Genetic Variants Related to Cell Cycle and Stability of Telomere in Patients with Glioma.

Background: Glioma, most common primary malignant brain tumor in adults, is highly aggressive and associated with a poor prognosis. Evaluate the association of polymorphisms related of to the cell cycle, integrity and DNA repair with gliomas, as well as lifestyle habits, comorbidities, survival and response to treatment. Methods: Were studied 303 individuals distributed into: Study Group - 100 patients with gliomas, regardless of the degree of malignancy, and Control Group - 203 individuals without clinical signs of the disease. These polymorphisms were genotyped by TaqMan® SNP Genotyping Assay. Significance level was set at 5%. Results: Smoking, alcohol consumption, systemic arterial hypertension (SAH) and diabetes mellitus (DM) prevailed in patients, compared to controls (P=0.0088, P=0.0001, P=0.0001, P=0.0011, respectively). In the logistic regression analysis, alcohol consumption and SAH were identified as independent risk factors for gliomas (P=0.0001, P=0.0027, respectively). Patients with low-grade gliomas showed survival in one year (92.0±6.8%), compared to patients with high-grade gliomas (24.0±5.3; P=0.011). Conclusion: Polymorphisms involved in cell cycle, telomere protection and stability and DNA repair are not associated with gliomas. On the other hand, alcohol consumption and SAH stand out as independent risk factors for the disease. Low-grade gliomas, response to treatment and the combination of chemotherapy with Temozolomide and radiation therapy show increased survival of patients.

Genetic variants related to angiogenesis and apoptosis in patients with glioma.

BACKGROUND: Glioma, the most common primary malignant brain tumor in adults, is highly aggressive and associated with a poor prognosis. The objectives of this study were to evaluate the association of genetic polymorphisms related to angiogenesis and apoptosis with gliomas, as well as comorbidities, lifestyle, clinical profile, survival and response to treatment (temozolomide [TMZ] and radiotherapy [RT]) in patients with the disease. METHODS: In a total of 303 individuals, genotypes were performed by real-time PCR, and clinical data, lifestyle and comorbidities were obtained from medical records and questionnaires. The significance level was set at 5%. RESULTS: Smoking, alcohol consumption, systemic arterial hypertension, diabetes mellitus and body mass index prevailed among patients, compared to controls (p < 0.05). The heterozygous genotype rs1468727 (T/C) and the homozygous genotype rs2010963 (G/G) (p > 0.05) were observed in both groups. Lifestyle and comorbidities showed independent risk factors for the disease (p < 0.0001, p = 0.0069, p = 0.0394, respectively). Patients with low-grade gliomas had a survival rate of 80.0 ± 1.7% in three years. For the combination of TMZ+RT, survival was 78.7 ± 7.6% in 20 months, compared to TMZ only (21.9 ± 5.1%, p = 0.8711). CONCLUSIONS: Genetic variants were not associated with gliomas. Specific lifestyle habits and comorbidities stood out as independent risk factors for the disease. Low-grade gliomas showed an increase in patient survival with TMZ+RT treatment.

Genetic variants related to angiogenesis and apoptosis in patients with glioma / Variantes genéticas relacionadas à angiogênese e apoptose em pacientes com glioma

ABSTRACT Background Glioma, the most common primary malignant brain tumor in adults, is highly aggressive and associated with a poor prognosis. The objectives of this study were to evaluate the association of genetic polymorphisms related to angiogenesis and apoptosis with gliomas, as well as comorbidities, lifestyle, clinical profile, survival and response to treatment (temozolomide [TMZ] and radiotherapy [RT]) in patients with the disease. Methods In a total of 303 individuals, genotypes were performed by real-time PCR, and clinical data, lifestyle and comorbidities were obtained from medical records and questionnaires. The significance level was set at 5%. Results Smoking, alcohol consumption, systemic arterial hypertension, diabetes mellitus and body mass index prevailed among patients, compared to controls (p < 0.05). The heterozygous genotype rs1468727 (T/C) and the homozygous genotype rs2010963 (G/G) (p > 0.05) were observed in both groups. Lifestyle and comorbidities showed independent risk factors for the disease (p < 0.0001, p = 0.0069, p = 0.0394, respectively). Patients with low-grade gliomas had a survival rate of 80.0 ± 1.7% in three years. For the combination of TMZ+RT, survival was 78.7 ± 7.6% in 20 months, compared to TMZ only (21.9 ± 5.1%, p = 0.8711). Conclusions Genetic variants were not associated with gliomas. Specific lifestyle habits and comorbidities stood out as independent risk factors for the disease. Low-grade gliomas showed an increase in patient survival with TMZ+RT treatment.

RESUMO Introdução Glioma, tumor cerebral maligno, é altamente agressivo e associado a mau prognóstico. Os objetivos deste estudo foram avaliar a associação de polimorfismos genéticos relacionados a angiogênese e apoptose em pacientes com glioma, bem como suas comorbidades, hábitos de vida, perfil clínico, sobrevida e resposta ao tratamento (temozolomida [TMZ] e radioterapia [RT]). Métodos 303 indivíduos foram genotipados por PCR em tempo real, e foram coletados dados clínicos, hábitos de vida e comorbidades. Admitiu-se nível de significância para valor p < 0,05. Resultados Tabagismo, elitismo, hipertensão arterial sistêmica, diabetes mellitus e índice de massa corporal prevaleceram entre os pacientes, comprados aos controles (p < 0,05). O genótipo heterozigoto rs1468727 (T/C) e homozigoto rs2010963 (G/G) (p > 0,05) foram observados em ambos os grupos. Tabagismo, elitismo, hipertensão arterial sistêmica, diabetes mellitus e índice de massa corporal apresentaram fatores de risco independentes para a doença (p < 0.0001, p = 0.0069, p = 0.0394, respectivamente). Os pacientes com gliomas de baixo grau apresentaram sobrevida de 80,0 ± 1,7% em três anos. Para a combinação de RT e TMZ, a sobrevida foi de 78,7±7,6% em 20 meses, em comparação com TMZ (21,9 ± 5,1%, p = 0,8711). Conclusões As variantes genéticas não estiveram associadas aos gliomas. Hábitos de vida e comorbidades específicas destacaram-se como fatores de risco independentes para a doença. O tratamento com TMZ + RT mostrou aumento na sobrevida dos pacientes.

Atypical Teratoid Rhabdoid Tumor in a Child: Case Report / Tumor teratóide rabdóide atípico emuma criança: relato de caso

Atypical teratoid/rhabdoid tumor (ATRT) is a rare and aggressive type of embryonal tumor of the central nervous system (CNS) occurring in childhood. The present study aims to describe the case of a 16-year-old girl who presented with an occipital mass lesion that was diagnosed as ATRT.We present a brief review of the current knowledge of the treatment of this rare neoplasm. A previously healthy 16-year-old girl was referred after two episodes of partial complex seizure 2 weeks before admission. MRI showed a right parieto-occipital lesion with homogeneous contrast-enhancing and significant surrounding brain edema. The patient underwent uneventful surgical resection of the lesion and was discharged home on the fifth postoperative day. Pathologic examination revealed it to be ATRT. The patient was referred to chemotherapy and radiotherapy. After 6 months of follow-up, the patient remains free of seizure and disease progression. ATRT is a rare and aggressive disease. Therefore, early diagnosis and treatment may improve the patient's prognosis and quality of life.

O tumor teratoide rabdoide atípico (TTRA) é um tipo de neoplasia rara, com comportamento maligno, que atinge o sistema nervoso central (SNC) de crianças. O objetivo do presente estudo é relatar o caso de uma paciente de 16 anos de idade admitida no nosso serviço com uma lesão occipital que revelou tratar-se de TTRA em estudo anatomopatológico. Uma paciente previamente hígida foi admitida no nosso serviço referindo ocorrência de dois episódios de crises convulsivas nas últimas 2 semanas. A ressonância magnética de crânio mostrou a presença de lesão occipital direita com captação homogênea do meio de contraste. A paciente foi submetida a cirurgia de ressecção da lesão expansiva sem intercorrências. A análise histopatológica e imuno-histoquímica revelou tratar-se de TTRA. A paciente foi encaminhada para a realização de quimioterapia e radioterapia complementares ao tratamento cirúrgico. Após 6 meses de seguimento ambulatorial, a paciente encontra-se assintomática, sem recorrência das crises convulsivas e/ou progressão radiológica da doença. TTRA é uma doença rara e agressiva. Com isso, diagnóstico e tratamento antecipados podem aprimorar prognóstico e qualidade de vida dos pacientes.