Clinical, demographic, anatomopathological, and molecular findings in patients with medulloblastoma treated in a single health facility / Achados clínicos, demográficos, anatomopatológicos e moleculares de portadores de meduloblastoma tratados em uma única instituição

ABSTRACT Objective: To describe the clinical, demographic, anatomopathological, molecular, and survival characteristics of patients with medulloblastoma. Methods: Retrospective study based on patient information obtained from the review of medical records. Overall and event-free survival were analyzed using the Kaplan-Meier estimator, and the curves were compared by the log-rank test. Results: Among the patients investigated, 70 were male (66%), and age at diagnosis ranged from 2 months to 22 years. The most frequent signs and symptoms were headache (80.8%) and vomiting (75.8%). Regarding treatment, most patients (63.2%) underwent complete surgical resection, with a predominance of classic histology (63.2%). The 5-year overall survival rate was 67.9%, and the 10-year rate was 64.2%. Patients with molecular profile characteristic of the wingless (WNT) subgroup had a better prognosis, with 5-year overall survival of 75%. Conclusions: The clinical, demographic, anatomopathological, and molecular characteristics of patients with medulloblastoma described in the present study were mostly similar to those reported in the literature. Patients submitted to complete tumor resection had better clinical outcomes than those who underwent incomplete resection/biopsy. Patients classified as high-risk showed worse overall and event-free survival than those in the standard-risk group, and the presence of metastasis at diagnosis was associated with recurrence.

RESUMO Objetivo: Descrever as características clínicas, demográficas, anatomopatológicas, moleculares e de sobrevida de pacientes portadores de meduloblastoma. Métodos: Estudo retrospectivo, no qual as informações dos pacientes foram obtidas pela revisão dos prontuários médicos. Análises de sobrevida global e de sobrevida livre de eventos foram realizadas por meio da construção de curvas de Kaplan-Meier e a comparação entre as curvas foi feita pelo teste log-rank. Resultados: Entre os pacientes analisados, 70 pertenciam ao sexo masculino (66%) e a idade ao diagnóstico variou de dois meses a 22 anos. Os sinais e sintomas de maior frequência foram cefaleia (80,8%) e vômitos (75,8%). Em relação ao tratamento, a maioria (63,2%) dos pacientes foi submetida à ressecção cirúrgica total e apresentava como histologia predominante a forma clássica (63,2%). A taxa de sobrevida global em cinco anos foi de 67,9% e, em 10 anos, de 64,2%. Os pacientes com perfil molecular característico do subgrupo wingless (WNT) apresentaram melhor prognóstico, com sobrevida global em cinco anos de 75%. Conclusões: As características clínicas, demográficas, anatomopatológicas e moleculares dos pacientes com meduloblastoma descritas no presente estudo foram majoritariamente semelhantes às descritas na literatura. Pacientes submetidos à ressecção completa do tumor tiveram melhor evolução clínica do que aqueles com ressecção incompleta/biópsia. Pacientes estratificados como de alto risco apresentaram pior sobrevida global e livre de eventos do que o grupo standard e a presença de metástases ao diagnóstico se mostrou associada à ocorrência de recidiva da doença.

A Rare Case of Medulloblastoma with Supratentorial Metastasis Two Years after Treatment

One of the most invasive malignant tumors of the cerebellum is medulloblastoma, which is also the most common malignant tumor of the brain in children. Patients with a recurrent disease following initial treatment have the most unfavorable prognosis. The most common metastasis locations are the spine, the posterior fossa, the bones, and the supratentorium. Late medulloblastoma metastasis in the supratentorial intraventricular region is uncommon. We report here a case with supratentorial seeding.

Metachronic breast and cerebellar neoplasm in a young patient / Neoplasias mamária e cerebelar metacrônicas em uma paciente jovem

Abstract Several factors trigger the development of genetic mutations that are responsible for causing a neoplasm. Medulloblastoma is a malignant and invasive cerebellar neoplasm, that affects children and young adults. Mucinous carcinoma is a special type of breast cancer. Being a special atypical subtype of invasive carcinoma, it most frequently affects women of advanced age and represents 1 to 7% of all breast cancers. The reported case aims to show the rarity of the occurrence of desmoplastic medulloblastoma and mammary mucinous carcinoma in a young patient in a short period of time, in different sites, without direct anatomical attachment and without occurrence of metastasis. Initially, this patient had a desmoplastic medulloblastoma and was treated with lumpectomy and radiotherapy. After 13 months, the patient was diagnosed with a mucinous breast carcinoma, underwent mastectomy, adjuvant chemotherapy and is currently undergoing endocrinotherapy. We conclude, based on the metachronous characteristic of the neoplasia and clinical characteristics, that the patient is likely to have Li-Fraumeni syndrome, an autosomal dominant disease with mutation of the TP53 gene, which is the the main involved. Because the patient does not present all the characteristics of the phenotype of the syndrome, she can thus be classified as having Li-Fraumeni variant or Li-Fraumeni-like syndrome.

Resumo Diversos fatores desencadeiam o desenvolvimento de mutações genéticas que são responsáveis por originar uma neoplasia. O meduloblastoma é uma neoplasia cerebelar maligna e invasiva que acomete crianças e adultos jovens. O carcinoma mucinoso é um tipo de câncer de mama especial por ser um subtipo atípico de carcinoma invasivo, que acomete com maior frequência mulheres de idade avançada e representa entre 1 a 7% do total de neoplasias mamárias. O caso relatado tem como objetivo mostrar a raridade da ocorrência do meduloblastoma desmoplásico e carcinoma mucinoso mamário em uma paciente jovem em um curto período de tempo, em diferentes sítios sem ligação anatômica direta e sem ocorrência de metástase. Inicialmente, esta paciente possuía um meduloblastoma desmoplásico e foi tratada com tumorectomia e radioterapia. Após 13 meses, a paciente foi diagnosticada com carcinoma mucinoso de mama, sendo submetida a mastectomia, quimioterapia adjuvante e atualmente está sendo tratada com endocrinoterapia. Concluímos, com base na característica metacrônica da neoplasia e características clínicas, que a paciente apresenta a síndrome de Li-Fraumeni, doença autossômica dominante com mutação do gene TP53, que é o principal gene envolvido nesta síndrome. Por não apresentar as características completas do fenótipo da síndrome, a paciente pode assim ser classificada como portadora de uma variante da síndorme de Li-Fraumeni ou síndrome do tipo Li-Fraumeni.

Risk factors for the prognosis of pediatric medulloblastoma: a retrospective analysis of 40 cases

OBJECTIVES: In this study, we evaluated the association of molecular subtypes, clinical characteristics and pathological types with the prognosis of patients with medulloblastoma. METHODS: We analyzed forty patients with medulloblastoma who underwent surgical resection at our center between January 2004 and June 2014. Risk factors associated with survival, disease progression and recurrence were analyzed with a univariate Cox regression analysis, and the identified significant risk factors were further analyzed by Kaplan-Meier survival curves. RESULTS: Factors associated with overall survival included M stage (p=0.014), calcification (p=0.012), postoperative treatment, postoperative Karnofsky Performance Scale (KPS) score (p=0.015), and molecular subtype (p=0.005 for WNT and p=0.008 for SHH). Number of symptoms (p=0.029), M stage (p<0.001), and postoperative radiotherapy (p=0.033) were associated with disease progression. Patients with the WNT or SHH subtype had better survival outcomes than patients with non-WNT/SHH subtypes. Risk factors for disease progression-free survival were symptoms >2 and ≥M1 stage without postoperative radiotherapy. The risk of recurrence increased with advanced M stage. Protective factors for recurrence included M0 stage and a combination of chemotherapy and radiotherapy. CONCLUSION: We identified the risk factors associated with survival, disease progression and recurrence of medulloblastoma patients. This information is helpful for understanding the prognostic factors related to medulloblastoma.

CTNNB1, AXIN1 and APC expression analysis of different medulloblastoma variants

OBJECTIVES: We investigated four components of the Wnt signaling pathway in medulloblastomas. Medulloblastoma is the most common type of malignant pediatric brain tumor, and the Wnt signaling pathway has been shown to be activated in this type of tumor. METHODS: Sixty-one medulloblastoma cases were analyzed for β-catenin gene (CTNNB1) mutations, β-catenin protein expression via immunostaining and Wnt signaling pathway-related gene expression. All data were correlated with histological subtypes and patient clinical information. RESULTS: CTNNB1 sequencing analysis revealed that 11 out of 61 medulloblastomas harbored missense mutations in residues 32, 33, 34 and 37, which are located in exon 3. These mutations alter the glycogen synthase kinase-3β phosphorylation sites, which participate in β-catenin degradation. No significant differences were observed between mutation status and histological medulloblastoma type, patient age and overall or progression-free survival times. Nuclear β-catenin accumulation, which was observed in 27.9% of the cases, was not associated with the histological type, CTNNB1 mutation status or tumor cell dissemination. The relative expression levels of genes that code for proteins involved in the Wnt signaling pathway (CTNNB1, APC, AXIN1 and WNT1) were also analyzed, but no significant correlations were found. In addition, large-cell variant medulloblastomas presented lower relative CTNNB1 expression as compared to the other tumor variants. CONCLUSIONS: A small subset of medulloblastomas carry CTNNB1 mutations with consequent nuclear accumulation of β-catenin. The Wnt signaling pathway plays a role in classic, desmoplastic and extensive nodularity medulloblastoma variants but not in large-cell medulloblastomas.

Neoplasias sólidas de células redondas en edad pediátrica: correlación entre diagnóstico morfológico e inmunohistoquímica / Solid neoplasm of circle celis in the pediatric age: correlation between morphological and immunohistochemistry diagnóstic

Precisar la importancia de realizar el estudio de inmunohistoquímica y su correlación con el diagnóstico anatomopatológico de rutina para el diagnóstico de los tumores sólidos malignos de células redondas en pacientes pediátricos. Se realizó un estudio transversal, descriptivo, retrospectivo no experimental. Se estudiaron 147 pacientes con diagnóstico de neoplasia de células redondas, de los cuales 96 cumplieron con criterios de inclusión. La mayor frecuencia de casos la obtuvo el linfoma No Hodgkin (20,8%), seguido del linfoma de Hodgkin (15,6%) y tumor de Wilms (17,7%). El grupo etario mayormente afectado fue el escolar (37,5%). El género predominante fue el masculino (60,4%). Las manifestaciones clínicas más frecuentes fueron masa palpable (76,04%), fiebre(44,79%), anemia (41,67%), dolor (41,30%) y pérdida de peso (33,33%). Se evidenció la mayor correlación diagnóstica en el tumor de Wilms (100%), seguido del linfoma No Hodgkin (80%) y el linfoma de Hodgkin (75%); la menor correlación la presentaron el sarcoma de Ewingy el neuroblastoma (41,7%, ambos). La correlación total resultó “considerable” según la fuerza de concordancia del coeficiente de Kappa (k: 0,601. P=0,000). Se requiere la integración del examen histopatológico de rutina como método diagnóstico de pesquisa y del estudio de inmunohistoquímica como método auxiliar diagnóstico, para determinar la histogénesis de las neoplasias, descartar diagnósticos diferenciales, realizar un diseño terapéutico apropiado y precisar el pronóstico.

To precise the state and the importance o fthe study of immunohistochemistry and its correlation with the routine pathological diagnosis to use in diagnosis of malignant solid tumors of round cells in pediatric patients. We was performed a transversal, descriptive and retrospective non-experimental study. We studied 147 patients diagnosed with round cell tumor, 96 of them weremet in inclusion criteria. The highest frequency of the cases was Non-Hodgkin lymphoma (20.8%), followed by the Hodgkin lymphoma (15.6%) and the Wilms tumor(17.7%). The age group most affected was the school(37.5%). The male gender was the predominant (60.4%).The most frequent clinical manifestations were a palpablemass (76.04%), the fever (44.79%), the anemia (41.67%),the pain (41.30%) and the weight loss (33.33%). Evidencedthe highest correlation in the diagnosis of Wilms tumor(100%), followed by Non-Hodgkin lymphoma (80%) and Hodgkin lymphoma (75%); showed the lowest correlation between the Ewing sarcoma and neuroblastoma (41.7%, both). The total correlation is “considerable” accordingto strength of agreement the Kappa coefficient (k: 0.601.P=0.000). It requires the integration of routine histopathological examination as diagnostic method of research and study of immunohistochemistry as an auxiliary diagnostic method to determine the histogenesis of neoplasm and exclude the differential diagnoses, make anappropriate therapeutic design and the determine prognosis of this group of patients.

Aberrant signaling pathways in medulloblastomas: a stem cell connection / Vias de sinalização aberrantes no meduloblastoma: uma conexão com célula-tronco

Medulloblastoma is a highly malignant primary tumor of the central nervous system. It represents the most frequent type of solid tumor and the leading cause of death related to cancer in early childhood. Current treatment includes surgery, chemotherapy and radiotherapy which may lead to severe cognitive impairment and secondary brain tumors. New perspectives for therapeutic development have emerged with the identification of stem-like cells displaying high tumorigenic potential and increased radio- and chemo-resistance in gliomas. Under the cancer stem cell hypothesis, transformation of neural stem cells and/or granular neuron progenitors of the cerebellum are though to be involved in medulloblastoma development. Dissecting the genetic and molecular alterations associated with this process should significantly impact both basic and applied cancer research. Based on cumulative evidences in the fields of genetics and molecular biology of medulloblastomas, we discuss the possible involvement of developmental signaling pathways as critical biochemical switches determining normal neurogenesis or tumorigenesis. From the clinical viewpoint, modulation of signaling pathways such as TGFβ, regulating neural stem cell proliferation and tumor development, might be attempted as an alternative strategy for future drug development aiming at more efficient therapies and improved clinical outcome of patients with pediatric brain cancers.

Meduloblastoma é um tumor maligno do sistema nervoso central (SNC). Na infância, representa o tumor sólido mais frequente e a principal causa de morte relacionada ao câncer. Tratamentos atuais incluem cirurgia, quimioterapia e radioterapia, que podem trazer prejuízos cognitivos e desenvolvimento de tumores secundários. Novas perspectivas terapêuticas surgem com a identificação de células-tronco em gliomas, as quais apresentam alto potencial tumorigênico e maior resistência à radioterapia e quimioterapia. A hipótese das células-tronco tumorais sugere que a transformação de células-tronco e/ou progenitores neurais do cerebelo está envolvida no desenvolvimento do meduloblastoma. Portanto, analisar alterações genéticas e moleculares envolvidas nesse processo é de grande importância na pesquisa básica e aplicada ao câncer. Nesse sentido, discutimos o possível envolvimento de vias de sinalização bioquímica críticas a ambos os processos de neurogênese normal ou tumorigênese, com base em evidências atuais na área de genética e biologia molecular dos meduloblastomas. Do ponto de vista clínico, a modulação de vias de sinalização como a do TGFβ, regulando proliferação de célula-tronco neural e desenvolvimento tumoral, pode ser uma estratégia alternativa para o desenvolvimento de novos medicamentos objetivando-se terapias mais eficientes e melhora do prognóstico dos pacientes pediátricos com câncer de SNC.

Histopathology of ocular tumor specimens in Benin city, Nigeria

To determine the histopathological diagnosis of ocular tumor specimens and to assess their correlation with preoperative clinical diagnosis. Surgical records of all patients who had undergone ocular surgery yielding a tissue specimen at the ophthalmology department of the University of Benin Teaching Hospital, Benin City, Nigeria, from March 1999 to February 2007 were extracted. Parameters included age, sex, preoperative clinical diagnosis, type of surgery, and histopathological diagnosis. Overall, 148 patients including 88 male [59.5%] and 60 female [40.5%] subjects were operated during the study period. The most prevalent histopathological diagnoses included squamous cell carcinoma [SCC] of the conjunctiva and eyelids [16.9%], pterygium [12.2%] and retinoblastoma [10.8%]. Excisional conjunctival biopsies were performed in 30 cases to rule out SCC which was confirmed in 16 cases [53.3%]. Enucleation was performed in 19 children with suspicion of intraocular malignancy of whom 16 had retinoblastoma and one had teratoid medulloblastoma; yielding a correct clinical diagnosis in 89.5% of cases. Of 24 cases of enucleation in adults, the preoperative diagnosis was confirmed by histology in 21 cases [87.5%]. The preoperative diagnosis was confirmed histologically in 8 cases [53.3%] of 15 orbital specimens and 11 cases [50%] of 22 eyelid samples. The most common ophthalmic malignancies were SCC of the conjunctiva and eyelids, and retinoblastoma. Clinicopathological correlation was lowest in eyelid lesions and highest in enucleation specimens

Immunohistochemical expression of markers Ki-67, neun, synaptophysin, p53 and HER2 in medulloblastoma and its correlation with clinicopathological parameters / Expressão imunoistoquímica dos marcadores Ki-67, neun, sinaptofisina, p53 e HER2 em meduloblastoma e sua correlação com os parâmetros clínico-patológicos

Medulloblastoma (MB) is the most common malignant brain tumor in childhood. The alterations found include: presence of oncoproteins p53 and HER2, elevated mitotic index, and presence of neuronal differentiation. The aim of this study was to determine the immunohistochemical expression of markers Ki-67, NeuN, synaptophysin, HER2 and p53 in 40 MB samples and their correlation with clinicopathologic parameters and survival. In 29 patients (72.5 percent), >20 percent of cells were positive for Ki-67. Males showed greater ki-67 expression (p=0.02) and smaller survival rates (p=0.002). NeuN and synaptophysin were negative in 16 (40 percent) and 8 (20 percent) cases, respectively. P53 was positive in 18 (45 percent) cases, with 11 (61 percent) weakly positive and 7 (39 percent) strongly positive. HER2 was positive in 23 (57.5 percent) of the samples and did not show statistical association with survival (p=0.07).

Meduloblastoma (MB) é o tumor maligno encefálico mais freqüente na infância. dentre as alterações encontradas estão: a presença das oncoproteínas p53 e HER2, elevado índice mitótico e presença de diferenciação neuronal. o objetivo deste estudo foi determinar a expressão imunoistoquímica (IMQ) dos marcadores Ki-67, NeuN, sinaptofisina, HER2 e p53 em 40 amostras de MB, correlacionando-as com parâmetros clinicopatológicos e com a sobrevida. Vinte e nove pacientes (72,5 por cento) apresentaram 20 por cento ou mais das células positivas para Ki-67. os pacientes do sexo masculino apresentaram maior expressão do Ki-67 (p=0,02) e também menor sobrevida (p=0,002). NeuN e sinaptofisina foram negativos em 16 (40 por cento) e 8 (20 por cento) casos, respectivamente. P53 foi positivo em 18 (45 por cento) casos, sendo 11 (61 por cento) fracamente positivos e 7 (39 por cento) fortemente positivos. HER2 foi positivo em 23 (57,5 por cento) das amostras e não demonstrou associação estatística com a sobrevida (p=0.07).

Comportamiento de la deshidrogenasa lactica en niños con enfermedades neoplasicas: Consulta de Oncología infantil: Hospital Central de San Cristóbal, abril a octubre del año 2003 / Behavior of the lactic deshydrogenases in children with disease neoplasic infant: Oncology Consultation in the Central Hospital of San Cristobal: april-october 2003

La incidencia de cáncer infantil es de unos 120 casos anuales por cada millón de niños y conocer el diagnóstico oportuno mejora la sobrevida. Estudiar las concentraciones de la deshidrogenasa láctica (LDH) en niños con neoplasias que asisten a la consulta de Oncología Infantil del Hospital Central de San Cristóbal. Estudio prospectivo, descriptivo, longitudinal y observacional, diseño no experimental y longitudinal panel. 34 pacientes, 22 (65 por ciento) sexo masculino, 12 (5 por ciento) sexo femenino, preescolar 19 (56 por ciento), procedencia del medio urbano 23 (68 por ciento), 11 (32 por ciento) del medio rural, 17 (50 por ciento) leucemias, 5 (14,7 por ciento) tumor de wilms, 3 (8,82 por ciento) retinoblastoma, 3 (8,82 por ciento) linfoma no Hodgkin, 2 (5,88 por ciento) linfoma Hodgkin, 2 (5,88 por ciento) meduloblastoma, 1 (2,94 por ciento) sarcoma y 1 (2,94 por ciento) nueroblastoma. 9 (26 por ciento) consultan por tumoración abdominal y 28 (50 por ciento) tienen paraclínica de anemia. Leucemias en inicio y recaída la LDH elevada mayor de 285UI/L y normaliza en tratamiento, el tumor de wilms en tratamiento y seguimiento normal y en recaída elevada para luego normalizar, el retinoblastoma es normal en seguimiento y elevada en recaída y luego normaliza, el linfoma no Hodgkin elevada en inicio y luego normaliza y en tratamiento es normal, el linfoma Hodgkin normal en inicio, tratamiento y seguimiento, el meduloblastoma y neuroblastoma normal en seguimiento y el sarcoma normal en tratamiento. La LDH aumenta en fase de inicio y recaída y disminuye en fase de tratamiento y se normaliza en fase de seguimiento.

Melanotic medulloblastoma of cerebellum: a case report.

A case of 7 yr old boy with cerebellar melanotic medulloblastoma is reported. Melanotic medulloblastoma is a variant of medulloblastoma, which shares some of the histological features of Melanotic neuroectodermal tumor of infancy. However the predominant histological pattern and clinical behavior is that of conventional or classical medulloblastoma. The melanin pigments present in these tumors have been proved to be both neuromelanin and oculocutaneous type of melanin. This is a rare histological type and only few cases have been reported in the literature so far.

Radiation-induced medulloblastoma in an adult: a functional imaging study.

We describe functional imaging findings using MRI, 1H-Magnetic resonance spectroscopy and positron emission tomography in a case of radiation-induced medulloblastoma following radiotherapy for pineal gland tumor. MRS showed a prominent choline peak; FDG, 11C-Met and 11C-Choline PET showed a minimal glucose, increased methionine and choline uptake.

A Case of Medullomyoblastoma of Cerebellopontine Angle Mimicking Acoustic Neuroma

Medulloblastoma is a common malignant central nervous system neoplasm found mainly in children. One the contrary, medulloblastoma of the cerebellopontine angle, the location of the tumor is very unusual. This is the the first case of the medullomyoblastoma, a rare form of medulloblastoma, occurring in the cerebellopontine angle. A 15-year-old boy experienced a sudden hearing loss in the left ear. Conservative medical treatment failed, and temporal MR imaging revealed a heterogeneously enhancing mass at the left cerebellopontine angle cistern and in the internal auditory canal; therefore, the lesion was regarded as a typical acoustic neuroma. Few days before surgery, an ipsilateral facial palsy developed, and a follow-up MR imaging showed a rapid growth of the previous lesion. The extended translabyrinthine approach permitted surgical removal. And under pathological diagnosis of malignancy, radiation therapy and series of chemotherapy was performed.

Cerebellar medulloblastoma in a 65 year old Indian male.

A case of cerebellar medulloblastoma in a 65 year old male is reported. Cerebellar medulloblastoma is classically seen during childhood, and less than 25% of these tumours are found in adults below 40 years of age. Rarely, cases are reported above the age of 40 years. So far only three cases have been reported in patients aged above 64 years and none of these case reports are from India.

The effect of isochromosome 17q presence, proliferative and apoptotic indices, expression of c-erbB-2, bcl-2 and p53 proteins on the prognosis of medulloblastoma

Medulloblastoma accounts for 20 to 25+ACU- of all intracranial neoplasms in children. The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. Twenty children were divided into two groups (favorable and poor outcome groups). Ten children with favorable outcome (FO) were disease-free during the follow-up period (median: 61.5 months). The other ten children with poor outcome (PO) died of disease progression, having a median survival of 18 months. Fluorescent in situ hybridization (FISH) for i(17q), terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), and immunohistochemistry for Ki-67, c-erbB-2, bcl-2, and p53 proteins was performed in these patients. Nine out of 17 children showed i(17q). There was no difference in the rate of positive i(17q) between the FO and PO groups. The presence of i(17q) was not significantly related to biological factors that we investigated. Unlike the prominent presence of the proliferative potential and p53 expression in children with PO, apoptotic activity and expression of c-erbB-2 and bcl-2 had no correlation with the outcome.

The effect of isochromosome 17q presence, proliferative and apoptotic indices, expression of c-erbB-2, bcl-2 and p53 proteins on the prognosis of medulloblastoma

Medulloblastoma accounts for 20 to 25+ACU- of all intracranial neoplasms in children. The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. Twenty children were divided into two groups (favorable and poor outcome groups). Ten children with favorable outcome (FO) were disease-free during the follow-up period (median: 61.5 months). The other ten children with poor outcome (PO) died of disease progression, having a median survival of 18 months. Fluorescent in situ hybridization (FISH) for i(17q), terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), and immunohistochemistry for Ki-67, c-erbB-2, bcl-2, and p53 proteins was performed in these patients. Nine out of 17 children showed i(17q). There was no difference in the rate of positive i(17q) between the FO and PO groups. The presence of i(17q) was not significantly related to biological factors that we investigated. Unlike the prominent presence of the proliferative potential and p53 expression in children with PO, apoptotic activity and expression of c-erbB-2 and bcl-2 had no correlation with the outcome.

Meduloplastoma em adultos: análise de uma casuística e resultados cirúrgicos / Meduloplastoma in adults: analysis of a casuistic and surgical results

Analisamos 15 casos de meduloblastoma em adultos (8 homens e 7 mulheres), com idade média de 23,7 anos (variação de 13 a 46) submetidos a ressecção cirúrgica no período de fevereiro de 1988 a outubro de 1995. Os tumores se localizavam no hemisfério cerebelar em 7 casos (1 com extensão supratentorial e outro atingido a cisterna do ângulo pontocerebelar), no vernis e hemisférico em 4 e apenas no vernis em outros 4. A ressecção foi considerada radical em 7 casos, subtotal em 7 e parcial em um. Não houve mortalidade operatória. Aspectos relativos ao comportamento biológico e prognóstico são discutidos.

Medullomyoblastoma: A case report.

Medullomyoblastoma is a rare tumour seen in childhood. We report a medullomyoblastoma occurring in the cerebellar vermis of a 4 year old boy. The light microscopic features, immunohistochemistry and histogenesis are described.

Tumores pediátricos primários do sistema nervoso central. Estudo patologico de 623 casos / Primary paediatric tumours of the central nervous system. Pathological study of 623 cases

Tumores primários do sistema nervoso central (SNC) representam a segunda mais frequente forma de neoplasia em crianças abaixo dos 15 anos, entretanto sao as principais neoplasias responsáveis pelo óbito. Os autores relatam a análise epidemiológica e histopatológica de 623 tumores primários do SNC que acometeram pacientes pediátricos no período de 1990 a 1996 na cidade de Curitiba - PR. Neste período foram analisadas 3318 biópsias de SNC. Do total, 623 eram provenientes de neoplasias acometendo pacientes pediátricos (18,7 por cento). As idades dos pacientes variaram de 5 meses a 15 anos, sendo que 325 tumores ocorreram no sexo masculino e 298 no sexo feminino. Grande parte dos tumores localizava-se na fossa posterior. Dos 623 tumores, 277 eram de origem glial. As mais frequentes foram: astrocitoma (27,9 por cento), meduloblastoma (9,95 por cento), craniofaringioma 5,93 por cento), ependiomona (4,97 por cento) e glioblastoma (3,37 por cento).

AgNOR expression in CNS neoplasms.

Silver colloid staining of nucleolar organiser regions (AgNORs) is used for assessing the proliferative potential of tumours. The present study aimed at evaluating the AgNOR indices in normal and reactive CNS tissue, benign and malignant CNS neoplasms. The study group comprised of tissue from 22 controls and 100 cases (53 benign & 47 malignant neoplasms). The mean AgNOR index of controls was 0.95, benign neoplasms 1.25 and malignant neoplasms 2.12. A statistically significant difference was observed in controls and cases (p < 0.001) and between benign and malignant tumours (p = 0.002). Mean indices for low and high grade astrocytoma also significantly differed (p < 0.001). Using ROC curves cut off values were obtained for differentiation of neoplastic from non neoplastic (AgNOR index 1.10), benign from malignant (AgNOR index 1.75) and low grade (I & II) from anaplastic (Gr III & IV) Astrocytomas (AgNOR index 1.62). A spectrum of gradually increasing AgNOR indices from normal, reactive, benign to low and high grade malignancy indicates the usefulness of this simple technique as a proliferative marker.