ABSTRACT
Central nervous system high-grade neuroepithelial tumors with BCOR alteration are rare. Currently, there are only 24 cases reported in the literature. These tumors are characterized by a change involving the BCOR gene and have a poor prognosis. Studies are needed to improve the current therapy and outcomes of these neoplasms. This case report describes the clinical history of a patient with this disease and aims to contribute to the current knowledge about this new entity.
Subject(s)
Humans , Female , Child, Preschool , Central Nervous System/pathology , Neoplasms, Neuroepithelial/diagnosis , Neoplasms, Neuroepithelial/genetics , Neoplasms, Neuroepithelial/pathology , Mutation/geneticsABSTRACT
Antecedentes: El astroblastoma es uno de los tumores más inusuales del sistema nervioso central, cuya histogénesis no ha sido determinada. Ocurre principalmente en niños y adultos jóvenes, pero se ha descrito casos congénitos y en adultos mayores. En general predomina en mujeres, con una relación de 2:1. Son de localización supratentorial en el 91% de los casos. El cuadro clínico depende de la localización, pero generalmente se presentan con cefalea, déficit neurológico, aumento de la presión intracraneal, náuseas, vómitos, alteraciones visuales y convulsiones. Macroscópicamente es una lesión bien delimitada e histológicamente muestra,las características pseudorosetas perivasculares con hialinización vascular frecuente y positividad variable para la proteína fibrilarglial ácida, proteína S100, vimentina y positividad focal para el antígeno epitelial de membrana. Presentación de caso:masculino de 37 años, con cefalea y crisis convulsiva parcial, y en quien los estudios de imagen por resonancia magnética evidenciaron una lesión quística en el lóbulo temporal izquierdo, con los hallazgos histológicos característicos de astroblastoma.Conclusión: Los astroblastomas son neoplasias raras, generalmente bien circunscritos y no infiltrativos, cuyo pronóstico depende del grado histológicoy la resección completa del tumor...
Subject(s)
Humans , Male , Adult , Epilepsies, Partial/complications , Magnetic Resonance Spectroscopy/methods , Neoplasms, Neuroepithelial/diagnosis , Epilepsy, Temporal LobeABSTRACT
OBJECTIVE: To analyze glucose transporter 1 expression patterns in malignant tumors of various cell types and evaluate their diagnostic value by immunohistochemistry. INTRODUCTION: Glucose is the major source of energy for cells, and glucose transporter 1 is the most common glucose transporter in humans. Glucose transporter 1 is aberrantly expressed in several tumor types. Studies have implicated glucose transporter 1 expression as a prognostic and diagnostic marker in tumors, primarily in conjunction with positron emission tomography scan data. METHODS: Immunohistochemistry for glucose transporter 1 was performed in tissue microarray slides, comprising 1955 samples of malignant neoplasm from different cell types. RESULTS: Sarcomas, lymphomas, melanomas and hepatoblastomas did not express glucose transporter 1. Fortyseven per cent of prostate adenocarcinomas were positive, as were 29 percent of thyroid, 10 percent of gastric and 5 percent of breast adenocarcinomas. Thirty-six per cent of squamous cell carcinomas of the head and neck were positive, as were 42 percent of uterine cervix squamous cell carcinomas. Glioblastomas and retinoblastomas showed membranous glucose transporter 1 staining in 18.6 percent and 9.4 percent of all cases, respectively. Squamous cell carcinomas displayed membranous expression, whereas adenocarcinomas showed cytoplasmic glucose transporter 1 expression. CONCLUSION: Glucose transporter 1 showed variable expression in various tumor types. Its absence in sarcomas, melanomas, hepatoblastomas and lymphomas suggests that other glucose transporters mediate the glycolytic pathway in these tumors. The data suggest that glucose transporter 1 is a valuable immunohistochemical marker that can be used to identify patients for evaluation by positron emission tomography scan. The function of cytoplasmic glucose transporter 1 in adenocarcinomas must be further examined.
Subject(s)
Humans , Carcinoma/metabolism , Glucose Transporter Type 1/metabolism , Neoplasms, Neuroepithelial/metabolism , Biomarkers, Tumor/metabolism , Carcinoma/diagnosis , Immunohistochemistry , Neoplasms, Neuroepithelial/diagnosis , Predictive Value of Tests , Prognosis , Tissue Array AnalysisABSTRACT
The aims of this study are to identify the Immunohistochemical [IHC] expression of Glial Fibrillary Acidic Protein [GFAP] in different types of neuroepithelial tumors in Mosul city and to correlate the results with grade of tumor, with the results of other studies and to assess the diagnostic role of GFAP in the diagnonsis of neuroepithelial tumors and their differentiation from neuroglial tumors. This study included 56 cases of neuroepithelial tumors. 22 cases were collected during the period extending from October 2007 to May 2008. [The rest of the cases were retrieved from a filing system extending back to 2004]. In addition to two miscellaneous tumors, [one meningioma and the other secondary adenocarcinoma]. All cases were obtained from Al- Jamhuri Teaching Hospital in the western side of Mosul City, Northern Iraq and some private laboratories. Typing and grading of the tumors were done according to World Health Organization [WHO] classification system. IHC procedure was done for GFAP using polyclonal antibodies and chromogen visualizing system. A semi-quantitative histochemical score was used to record the results of GFAP staining according to the system established by Catherine L. Nutt et al. Thirty seven cases were diagnosed as astrocytoma, while 8 cases out of ependymoma, 4 cases of oligodendroglioma, and three cases medulloblastoma were shown. In addition, this study revealed that one case for each of: oligoastrocytoma, Medulloepithelioma, atypical rhabdoid tumor and astroblastoma. Glial Fibrillary Acidic Protein [GFAP] was expressed in 85.7% of neuroepithelial tumors. Higher GFAP positivity was found in glioma than other types of neuroepithelial tumors [P value <0.05]. On the other hand, GFAP was expressed in [36%] of astrocytoma. In oligodendroglioma, 3 cases out of 4 were positive while all cases of ependymoma were positive. In addition, oligoastrocytoma was positive while the remaining cases of neuroepithelial tumors were negative. In general, each type of glioma had special staining pattern of GFAP. GFAP status was found to be inversely related with the grade of glioma [P value <0.05]. GFAP is expressed more frequently in glioma than in other neuroepithelial tumors and this result is similar to many other studies done outside Iraq and it is correlated inversely with the grade of tumor. So, it is a valid supplementary diagnostic procedure for neuroepithelial tumors and a reliable marker to differentiate between glial from non-glial tumors on one hand and between different types of glial tumors on the other hand
Subject(s)
Humans , Neoplasms, Neuroepithelial/diagnosis , Immunohistochemistry , Diagnosis, Differential , Glioma/diagnosisABSTRACT
A 6-year-old boy who presented with worsening hemiplegia, behaviour problems and seizures after an episode of encephalitis-like illness is reported. MRI revealed diffuse signal change and swelling of the left cerebral hemisphere. The diagnosis of gliomatosis cerebri was confirmed by brain biopsy. Parents refused radiotherapy and the child worsened and died 6 months after diagnosis.
Subject(s)
Biopsy, Needle , Brain Neoplasms/diagnosis , Brain Neoplasms/pathology , Brain Neoplasms/radiotherapy , Child , Disease Progression , Fatal Outcome , Humans , Immunohistochemistry , Magnetic Resonance Imaging/methods , Male , Neoplasm Invasiveness/pathology , Neoplasm Staging , Neoplasms, Neuroepithelial/diagnosis , Neoplasms, Neuroepithelial/pathology , Neoplasms, Neuroepithelial/radiotherapy , Risk Assessment , Terminally Ill , Treatment RefusalABSTRACT
OBJETIVO: Relatar caso clínico raro de gliomatose cerebral difusa em criança, que, contrariando o observado na literatura, evoluiu de maneira clinicamente satisfatória. DESCRIÇÃO: Relatamos caso de criança que desenvolveu gliomatose cerebral com manifestações clínicas graves e progressivas. Exames iniciais foram inespecíficos. Melhora clínica inicial após cirurgia neuroendoscópica, porém piorou progressivamente, manifestando hidrocefalia obstrutiva, paraparesia e dificuldade de deambulação. Foram evidenciadas lesões disseminadas no espaço subaracnóideo, sendo realizadas nova intervenção cirúrgica, quimioterapia e radioterapia. Atualmente, após 6 anos de evolução, lesões no encéfalo e canal raquidiano estão inalteradas e há importante seringomielia. Entretanto, a criança apresenta-se clinicamente estável, com desenvolvimento adequado para sua idade, evidenciando resposta satisfatória ao tratamento. COMENTÁRIOS: A apresentação clínica e a propedêutica do caso levaram ao diagnóstico de gliomatose cerebral difusa do sistema nervoso central. Há poucos relatos na literatura desse tipo de tumor em crianças, e não se encontrou nenhum relato com evolução favorável como no caso apresentado.
OBJECTIVE: To report a rare clinical case of gliomatosis cerebri with favorable outcome in a 3-year old child. DESCRIPTION: A 3-year old child developed severe and progressive symptoms of gliomatosis cerebri. The initial tests were unspecific. After clinical improvement following neuroendoscopic surgery, there was a progressive decline in clinical status with development of obstructive hydrocephalus, paraparesis and difficulty in walking. The child was again submitted to surgery after disseminated injuries in the subarachnoid space were identified. She also received chemotherapy and radiotherapy. Currently, 6 years later, spinal canal and brain injuries remain unaltered, with marked syringomyelia. However, the child is clinically stable, with adequate development for her age, indicating a satisfactory response to treatment. COMMENTS: The child's clinical presentation and the combination of symptoms led to the diagnosis of gliomatosis cerebri. There are few descriptions of this kind of tumor in children in the literature, and none reports a favorable outcome as in the present case.
Subject(s)
Child, Preschool , Female , Humans , Brain Neoplasms/therapy , Neoplasms, Neuroepithelial/therapy , Brain Neoplasms/diagnosis , Magnetic Resonance Imaging , Neoplasms, Neuroepithelial/diagnosis , Treatment OutcomeABSTRACT
A case of diffuse cerebrospinal gliomatosis with extensive leptomeningeal spread is presented. The patient, an 18-year-old girl, was admitted due to progressive weakness and paresthesia of both legs, following rapid neuropsychiatric deterioration. An initial magnetic resonance imaging (MRI) study of the T-spine showed diffuse high signal intensities from T9 to T12 spinal cords on a T2 sagittal image and diffuse cord bulging at T1WI. This suggested an inflammatory lesion such as tuberculosis or fungal meningoencephalitis. A limited autopsy was performed. A microscopic examination revealed multifocal GFAP-positive astrocytic proliferations that were low grade astrocytoma in the cerebral leptomeninges, parietal, occipital and temporal lobes and anaplastic astrocytoma in the spinal cord and spinal leptomeninges. The high proliferative indices of the spinal lesion and aneuploidy correspond to a diagnosis of malignant astrocytoma and a rapid fatal clinical course.
Subject(s)
Female , Humans , Adolescent , Brain/pathology , Cell Division , Diagnosis, Differential , Magnetic Resonance Imaging , Meninges/pathology , Neoplasms, Neuroepithelial/pathology , Neoplasms, Neuroepithelial/diagnosis , Spinal Cord/pathologyABSTRACT
El tumor disembrioplástico neuroepitelial es una lesión muy infrecuente del sistema nervioso central, la cual fue descrita por primera vez en 1988 por Daumas-Duport e incluida en la última clasificación de tumores cerebrales de la Organización Mundial de la Salud. Nosotros comunicamos 18 casos consecutivos de DNT, en los que analizamos sus características clínicas y discutimos su diagnóstico diferencial con otras lesiones histológicamente similares asociados a epilepsia fármaco-resistente crónica. La edad media al momento de la operación y al inicio de la epilepsia fueron 27,9 años y 16,9 años respectivamente. Todos los pacientes presentaron epilepsia parcial compleja y sólo un paciente tuvo un leve déficit motor. La localización fue siempre supratentorial, 16 casos temporales y 2 frontales. La resonancia magnética (RM) mostró de regla una lesión quística, usualmente poliquística. Cinco pacientes tuvieron una cirugía previa en otra institución, 3 reacciones subtotales y 2 biopsias. Ningún paciente tuvo el diagnóstico de DNT previo a la segunda cirugía. Las operaciones fueron resecciones del DNT incluyendo el tejido epileptógeno. Un paciente con un DNT frontal localizado en ganglios basales tuvo la resección sub-total. El período de seguimiento varió entre 0.5 y 7 años (media 3,7 años). En nuestro grupo de 14 pacientes, 10 están libres de crisis y 3 presentan una reducción mayor a un 75 por ciento de sus crisis. Ningún paciente ha mostrado evidencia de recurrencia en el seguimiento con RM. La larga historia de epilepsia en nuestra serie indica que el DNT es una lesión que ha permanecido largo tiempo en el encéfalo, con lento o nulo crecimiento. El resultado post-operatorio sugiere que el DNT tiene un execlente pronóstico. Sin embargo, es aún necesario un mayor período de seguimiento, para establecer su real pronóstico en la era de la RM