Genomic profile of two Brazilian choroid plexus tumors by whole-exome sequencing.

Choroid plexus tumors (CPTs) are rare intracranial neoplasms, representing <1% of all brain tumors, yet they represent 20% of first-year pediatric brain tumors. Although these tumors have been linked to TP53 germline mutations in the context of Li-Fraumeni syndrome, their somatic driver alterations remain poorly understood. In this study, we report two cases of lateral ventricle tumors: 3-yr-old male diagnosed with an atypical choroid plexus papilloma (aCPP), and a 6-mo-old female diagnosed with a choroid plexus carcinoma (CPC). We performed whole-exome sequencing of paired blood and tumor tissue in both patients, categorized somatic variants, and determined copy-number alterations. Our analysis revealed a tier II variant (Association for Molecular Pathology [AMP] criteria) in BRD1, a H3 and TP53 acetylation agent, in the aCPP. In addition, we detected copy-number gains on Chromosomes 12, 18, and 20 and copy-number losses on Chromosomes 13q and 22q (BRD1 locus) in this tumor. The CPC tumor had only a pathogenic germline TP53 variant, based on American College of Medical Genetics (ACMG) criteria, with a clinical and familiar history of Li-Fraumeni syndrome. The CPC patient presented loss of heterozygosity (LoH) of TP53 loci and hyperdiploid genome. Both tumors were microsatellite-stable. This is the first study performing whole-exome sequencing in Brazilian choroid plexus tumors, and in line with the literature, we corroborate the absence of recurrent somatic mutations in these tumors. Further studies with larger sample sizes are necessary to confirm our findings and better understand the underlying biology of these tumors.

Meningioma of the Fourth Ventricle: Literature Review

Meningiomas are among the most common central nervous system tumors, with an incidence that ranges from 15% to 40% of intracranial tumors. Of these, only 0.5% to 3% are intraventricular, and the rarest of them occurs in the fourth ventricle. Fourth-ventricle meningiomas originate generally fromthe choroid plexus and have no dural adhesions. Most often, they manifest in young patients, around 41 years of age, with a possible predominance in females, through intracranial hypertension and cerebellar syndromes. The treatment consists of surgical resection, which commonly presents good results due to the characteristics of the tumor. So, for better preoperative planning, the radiological differentiation of the most frequent tumors in this location is important. Themost common histologic subtypes are fibroblastic and meningothelial, both grade I according to the World Health Organization (WHO), although there are reports of tumors of grades II and III. We report a case ofmeningioma of the fourth ventricle operated in our institution, and we have conducted a literature review, through which we found that 57 cases have been reported so far, with the first one reported in 1938.

Hypermethylation of BRCA1 Gene in Meningioma in Elderly Males.

BACKGROUND/AIM: Breast cancer 1, early onset (BRCA1) gene is expressed in the cells of the breast and other tissues, where it plays a role in cell-cycle regulation, transcription, repair of DNA double-stranded breaks, ubiquitination, transcriptional regulation as well as other functions, such as cell response regulation to mitogenic signals triggered by estrogens. Considering that meningioma shows greater tumor growth during pregnancy, can express estrogen receptors and proliferate in response to estrogenic stimulation, the hypothesis that this type of tumor may share molecular mechanisms that involve exposure to estrogen should be investigated. Therefore, the aim of the present study was to investigate the BRCA1 gene methylation profile in meningioma. MATERIALS AND METHODS: Methylation-specific polymerase chain reaction (PCR) assay was performed on 50 meningioma samples from male and female patients. Statistical analysis was carried out using Fisher's exact test. RESULTS: The most important finding of this study was that 100% of the male patients over 55 years with meningioma showed BRCA1 methylated in their tumor cells. CONCLUSION: The silencing of BRCA1 through hypermethylation seems to play an important role in meningioma.

Tratamento intracístico de craniofaringioma com interferon alfa: relato de caso / Intracystic Treatment of Craniopharyngiomas with Interferon Alpha: A Case Report

Craniofaringiomas são tumores histologicamante benignos, extrínsecos ao parênquima cerebral. Visando ao controle da doença, preconiza-se, como tratamento padrão, a tentativa de ressecção completa, meticulosamente planejada com vistas a preservar as funções habituais do paciente. Outras formas de terapias podem ser utilizadas como alternativas ou comoadjuvantes à cirurgia. Considerando-se quemuitos craniofaringiomas apresentam componente cístico, a utilização de cateteres posicionados no interior do lúmen cístico para aplicação de agentes quimioterapêuticos, como o interferon alfa (IFNa), tem-se mostrado promissora. Administração intratumoral de 3 milhões de unidades de IFNa em dias alternados, totalizando doze ciclos, tem sido utilizada empiricamente. Relatamos o caso de uma paciente de 12 anos de idade, com diagnóstico de craniofaringioma de predomínio cístico, tratada no Hospital de Câncer de Barretos (HCB) utilizando a aplicação de IFNa semanalmente, que apresentou evolução favorável.

Craniopharyngiomas are histologicaly benign tumors, whose ideal brain treatment requires its complete surgical resection, while preserving most of the usual functions of the patient. Due to the complexity of the surgical procedure, related to location (surrounded by paraselar structures), it is often difficult to achieve its complete resection. Thus, alternative therapies have been reported, including the use of intracystic IFNa on alternate days. We report the case of a 12 year-old female, diagnosed with cystic craniopharyngioma, weekly treated with intracystic IFNa, for a total of 12 cycles, with favorable outcome.

Pilomyxoid astrocytoma of the brainstem.

A pilomyxoid astrocytoma is a recently described tumor that occurs predominantly in the hypothalamic-chiasmatic region and is rarely found elsewhere. It has similar features as pilocytic astrocytomas, but has distinct histological characteristics and a poorer prognosis. A pilomyxoid astrocytoma is an aggressive tumor, and increased awareness is necessary with a suspect case. We present the first case of a pilomyxoid astrocytoma of the brainstem described after the newest World Health Organization classification of central nervous system tumors.

Obstrução intestinal no idoso / Intestinal obstruction in the elderly

RACIONAL: O envelhecimento da população é realidade sentida na vivência diária, levando à necessidade associada de prover cuidados médicos eletivos e de emergência a um número cada vez maior de idosos. OBJETIVO: Avaliar os aspectos clínicos, terapêuticos e evolutivos de pacientes idosos com obstrução intestinal atendidos no Hospital das Clínicas da Faculdade de Medicina de Botucatu - UNESP. MÉTODOS: Análise retrospectiva de pacientes internados no período de janeiro de 2002 a dezembro de 2006. Foram estudados 50 pacientes, 24 homens e 26 mulheres, com idade média de 74,7 ± 7,4 anos, analisando-se a diferenciação entre obstrução funcional e orgânica; a freqüência das causas obstrutivas; a mortalidade; a incidência dos sinais e sintomas; e correlação laboratorial. RESULTADOS: O quadro obstrutivo intestinal teve as seguintes causas: brida (38%), câncer de colon (24%), hérnias (12%), impactacão fecal (12%), carcinomatose (10%) e volvo da sigmóide (4%). A mortalidade foi de 18% associada à complicações infecciosas em todos os pacientes. CONCLUSÕES: a) A distinção entre a obstrução intestinal funcional e orgânica oferece dificuldade no idoso; b) o câncer do colon constitui-se em importante causa de obstrução intestinal com quadro obstrutivo já na primeira manifestação clínica desse tumor; c) bridas e hérnias são igualmente importantes na etiologia da obstrução intestinal; d) os sinais clínicos obstrutivos são poucos evidentes no idoso e a leucometria é mais fidedigna para este diagnóstico.

BACKGROUND: Population aging is a reality that is experienced daily, leading to an associated need for providing elective and emergency medical care to an increasing number of elderly individuals. AIM: To evaluate clinical, therapeutic and developmental aspects of patients with intestinal obstruction assisted at the University Hospital of the Botucatu School of Medicine - UNESP. METHODS: Retrospective analysis of patients hospitalized from January 2002 to December 2006. A group of fifty patients comprising 24 males and 26 females at a mean age of 74.7 ± 7.4 years were studied. RESULTS: The main causes for intestinal obstruction were: adhesion (38%), colon cancer (24%), hernia (12%), fecal impaction (12%), carcinomatosis (10%) and sigmoid volvulus (4%). Mortality was of 18%, being associated with infection complications in all patients. CONCLUSIONS: a) The distinction between functional and organic intestinal obstruction in elderly individuals is difficult; b) Colon cancer is an important cause of intestinal obstruction, since obstructive conditions may be the first clinical manifestation of such tumors; c) Adhesion and hernia are equally important in the etiology of bowel obstruction, the former so being in terms of incidence and the latter in relation to the possibility of developing bowel strangling; d) The clinical signs of obstruction are not evident in elderly individuals and leukocyte count can be more reliable for this diagnosis.