Strong OLIG2 expression in supratentorial ependymoma, ZFTA fusion-positive: A potential diagnostic pitfall.

Ependymomas (EPN) are central nervous system neoplasms that exhibit an ependymal phenotype. In particular, supratentorial EPN (ST-EPN) must be differentiated from more aggressive entities such as glioblastoma, IDH-wildtype. This task is frequently addressed with the use of immunohistochemistry coupled with clinical presentation and morphological features. Here we describe the case of a young adult presenting with migraine-like symptoms and a temporoinsular-based expansile mass that was first diagnosed as a GBM, mostly based on strong and diffuse oligodendrocyte transcription factor 2 (OLIG2) expression. Molecular characterization revealed a ZFTA::RELA fusion, supporting the diagnosis of ST-EPN, ZFTA fusion-positive. OLIG2 expression is rarely reported in tumors other than GBM and oligodendrocyte-lineage committed neoplasms. The patient was treated with radiotherapy and temozolomide after surgery and was alive and well at follow-up. This report illustrates the need to assess immunostains within a broader clinical, morphological and molecular context to avoid premature exclusion of important differential diagnoses.

Usefulness and safety from stereotactic biopsy in posterior fossa lesions in adult patients.

BACKGROUND: Stereotactic biopsy has been reported as a useful and safety procedure in pediatric patients. In adult patients exist more controversy because a greater number of diagnostic options. OBJECTIVE: To demonstrate its usefulness and safety in adult patients with posterior fossa pathology. METHOD: From 2006-2014, 23 patients were operated from posterior fossa. Variables: age, gender, state, pre- and postoperative diagnosis, stereotactic device, location and complications. RESULTS: 52.2% females and 47.8% males. The location was ponto-mesencephalic 43.5%, cerebellum 39.1%, bulbar 13% and pineal region 4.3%. The preoperative diagnosis was brainstem glioma 78.2%, lymphoma 8.7%, and meningioma, metastasis and abscess 4.3% each one. In 73.9% Zamorano-Dujovni device was used and in 26.1% the CRW. The definitive diagnosis was pilocytic astrocytoma 17.4%, diffuse astrocytoma 13%, inflammatory response 13%, anaplastic astrocytoma 8.7%, gliosis 8.7%, glioblastoma, neuroectodermic primitive tumor, germinoma, pineocytoma and cryptococcosis 4.3% each one. In 17.4% there was no diagnosis. The preoperative diagnosis was concordant in 43.5%. One transient deficit and one pin displacement 4.3% were present. 91.4% without complications. CONCLUSIONS: It is a useful, necessary and safety procedure in adult patients.

ANTECEDENTES: La biopsia por estereotaxia ha sido reportada como segura y útil en pediatría. En adultos es más controvertida debido a la mayor diversidad de opciones diagnósticas. OBJETIVO: Demostrar su utilidad y seguridad en pacientes adultos con patología de fosa posterior. MÉTODO: En 2006-2014 se operaron 23 pacientes de fosa posterior. Variables: edad, sexo, diagnóstico preoperatorio y posoperatorio, estereotáctico, localización y complicaciones. RESULTADOS: 52.2% mujeres y 47.8% hombres. La localización fue la región pontomesencefálica en el 43.5%, el cerebelo en el 39.1%, bulbar en el 13% y pineal en el 4.3%. El diagnóstico preoperatorio fue glioma de tallo en el 78.2%, linfoma en el 8.7% y meningioma, metástasis y absceso en el 4.3% cada uno. En el 73.9% se utilizó el sistema Zamorano-Dujovni y en el 26.1% el CRW. El diagnóstico definitivo fue astrocitoma pilocítico en el 17.4%, astrocitoma difuso en el 13%, respuesta inflamatoria en el 13%, astrocitoma anaplásico en el 8.7%, gliosis en el 8.7%, y glioblastoma, tumor neuroectodérmico primitivo, germinoma, pineoctioma y criptococosis en el 4.3% cada uno. En el 17.4% no hubo diagnóstico. El diagnóstico preoperatorio fue concordante en el 43.5%. Hubo un déficit transitorio y un desplazamiento de uno de los pinchos en el 4.3% de los casos. En el 91.4% no hubo complicaciones. CONCLUSIONES: Es un procedimiento útil, necesario y seguro en pacientes adultos.

[Clinical presentation of supratentorial and infratentorial intracranial tumors in pediatric patients]. / Presentación clínica de tumores intracraneales supratentoriales (ST) e infratentoriales (IT) en pacientes pediátricos.

BACKGROUND: Brain tumors are the second most common malignancy in childhood and they are also the most common solid tumors in children and the most frequent cause of morbidity and mortality associated with cancer in this age. OBJECTIVE: To determine the clinical presentation of supratentorial and infratentorial intracranial tumors in pediatric patients. MATERIAL AND METHODS: An observational, retrospective, cross-sectional comparative study in which records the clinical manifestations of 51 pediatric patients diagnosed with intracranial tumor, according with its location, supra- or infratentorial. RESULTS: 51 patients were analyzed. Tumor location was infratentorial in 32 patients (62.7%) and supratentorial in 19 (37.3%). Cerebellar syndrome occurred in 21 patients (65.6 %) with infratentorial tumor compared with six (31.5 %) with supratentorial tumor (p = 0.04; OR: 3.2; 95% CI: 1.1-12.8). Nystagmus was significantly more common in patients with infratentorial tumors (p = 0.029). Endocrine manifestations were present in four patients (21%) with supratentorial tumor and none of the infratentorial group (p = 0.03). CONCLUSIONS: Cerebellar syndrome was statistically significantly more common in patients with infratentorial when compared with patients with supratentorial. Nystagmus is one of the most common visual impairments in patients with infratentorial tumor. Endocrine disorders are significantly more frequent in patients with supratentorial tumor. The interval between onset of symptoms and diagnosis of intracranial tumor is significantly longer in children with supratentorial tumor because the symptoms are more insidious in onset and are mistaken for other benign conditions.

Ependimoma supratentorial em criança: relato de caso / Supratentorial ependymoma in child: a case report

O ependimoma é um tumor glioneural do grupo neuroepitelial que se origina no epêndima, de crescimento lento e localização infratentorial em dois terços dos casos. Os infratentoriais são maiscomuns em crianças e os supratentoriais, nos adultos. O presente relato descreve um caso na infância,supratentorial, em íntimo contato com o ventrículo lateral, predominantemente cístico, com áreas sólidas, pequeno efeito expansivo regional, sendo evidenciado, pela anatomopatologia, tratar-se de um subtipo infrequente nesta faixa etária, o subependimoma.

Ependymoma is a neuroepithelial tumor of the glioneural group which originates in the ependima, with slow growth and infratentorial location in 2/3 of the cases. The infratentorials are morecommon in children and the supratentorials in adults. This reportdescribes a case in childhood, supratentorial, in close contact withthe lateral ventricle, predominantly cystic, with solid areas, little regional expansive effect and evidenced by the pathology as an infrequent subtype in this age group, the subependymoma.

Primary cerebral fibrosarcoma in a child.

OBJECTIVE: To describe the case of a primary cerebral fibrosarcoma in a child. CLINICAL CASE: A 6-year-old boy presented with a history of headache, drowsiness, vomiting and seizures. He was referred to our institution and died shortly upon arrival to the ER. The autopsy revealed a large left frontoparietal mass with histopathologic features characteristic of fibrosarcoma. Immunohistochemical and ultrastructural studies allowed the exclusion of other mimickers such as meningiomas, and neoplasms of glial or neuronal origin. No other growths were found in the CNS or in other parts of the body. CONCLUSIONS: Brain fibrosarcoma is an exceedingly uncommon tumor. Only 41 cases have been reported to date. The diagnosis of fibrosarcoma must be based on the identification of a predominant herringbone architectural pattern, and immunohistochemical features, although the latter are of limited diagnostic value, its importance being that they facilitate the exclusion of other entities considered in the differential diagnosis.

[Primary central nervous system lymphomas in AIDS patients]. / Linfomas primarios del sistema nervioso central en pacientes con sida.

INTRODUCTION: Primary lymphoma is the most common neoplasm of the central nervous system (CNS) in AIDS patients. METHODS: We retrospectively reviewed the clinical manifestations, neuroimaging findings, diagnostic methods used, histological characteristics, detection of Epstein-Barr virus (EBV) DNA by PCR in cerebrospinal fluid (CSF) and brain smears, and outcome of 18 HIV/AIDS patients with primary CNS lymphoma. RESULTS: The overall incidence of primary CNS lymphoma was 2.6%. Fifteen were men and mean age was 33.6 years. The most frequent clinical findings were focal neurological deficits and seizures. The mean CD4 T cell count at the time of diagnosis was 44 cells/microl. Primary CNS lymphoma presented as single, large (> 2.5 cm) lesions in 14 patients (77.8%). All the lesions were associated with a mass effect and surrounding edema. EBV DNA was detected in nine brain smears. In seven of these nine cases, EBV DNA was also found in CSF by PCR. Median survival after specific diagnosis was 75 days. CONCLUSIONS: This study upholds a link between EBV and these tumors. Primary CNS lymphoma was associated with a poor prognosis and short survival in this cohort of patients.

Glioma supratentorial de baixo grau em adulto: experiência com 23 pacientes operados / Supratentorial low grade glioma in adults: an experience with 23 surgical cases

Os astrocitomas e oligodendrogliomas supratentoriais dos adultos são tumores infrequentes. Analisamos retrospectivamente 23 pacientes com este tipo de neoplasia que foram operados entre 1986 e 2002. Não ocorreu nenhum óbito no pós-operatório. A sobrevida de 5 e 10 anos de todo o grupo foi 67 e 30 por cento respectivamente, semelhante a outras experiências. Em 14 pacientes obtivemos a remoção completa da lesão (60,8 por cento) e em 9 (39,2 por cento) ocorreu remoção parcial do tumor. No subgrupo da ressecção total do tumor, 89 por cento sobreviveram 5 anos e 45 por cento alcançaram 10 anos de sobrevida, em contraste com o subgrupo da remoção parcial em que somente 35 por cento alcançaram os 5 anos de sobrevida e nenhum, 10 anos. Devido aos efeitos deletérios da radioterapia, nós preferimos prescrevê-la apenas nos casos de recorrência tumoral.

[Masquerade syndrome in a patient with a primary central nervous syndrome lymphoma]. / Síndrome de enmascaramiento en un paciente con un linfoma primario del sistema nervioso central.

We report the case of a 37-year-old, white male with a primary central nervous system lymphoma with multiple supra and infratentorial locations. The patient developed manifestations of intraocular inflammation secondary to the intracranial neoplasm (masquerade syndrome) and lymphocytopenia--with a low CD4 cell count--representing an immunodeficiency state which etiology was undiagnosed. The diagnosis of lymphoma was established by vitreous cytology. The patient died 10 months after the beginning of the symptoms.

Sindrome de enmascaramiento en un paciente con un linfoma primario del sistema nervioso central / Masquerade syndrome in a patient with a primary central nervous system lymphoma

Se describe el caso de un varón de 37 años con un linfoma primario del sistema nervioso central y con múltiples localizaciones supra e infratentoriales. El paciente presentaba manifestaciones de inflamación intraocular como expresión de su neoplasia intracraneana (síndrome de enmascaramiento) y linfocitopenia ¹con un recuento disminuido de CD4¹ como representación de una inmunodeficiencia cuya etiología no logramos identificar. El diagnóstico de linfoma se confirmó a través del estudio citológico del humor vítreo. El paciente falleció10 meses después del comienzo de los síntomas.(AU)

[The classical clinical and neuroimaging features of meningiomas are mimicked by other intracranial, supratentorial expansive lesions]. / Las características clínico-imaginológicas clásicas de los meningiomas son imitadas por otras lesiones expansivas.

OBJECTIVE: To analyze the surgical neurology cases in which both the clinical and neuroimaging features suggested supratentorial meningioma, and resulted in different entities from the neuropathological point of view. PATIENTS AND METHODS: The clinical histories of patients harboring intracranial, supratentorial mass lesions diagnosed as meningioma operated in different hospitals of Maracaibo, Venezuela, during the period 1993-1997 were reviewed. RESULTS: Our analysis revealed 15 cases with different neuropathological diagnosis. They were distributed as follows: three cases of hemangiopericytoma, two cases each of anaplastic ependymoma, metastatic carcinoma, and solitary intracranial plasmacytoma, and one case each of plasma cell granuloma, pleomorphic xanthoastrocytoma, chondroma, actinomycetoma, meningeal fibroma and chronic inflammation not otherwise specified. CONCLUSION: A heterogeneous group of intracranial, supratentorial expansive mass lesions can masquerade as meningiomas both from the clinical and neuroimaging points of view.

[Supratentorial meningiomas. Diagnosis, surgical results and complications]. / Meningiomas supratentoriais. Diagnóstico, resultados cirúrgicos e complicações.

Meningiomas are benign tumors arisising from arachnoid cells and represent the commonest asymptomatic intracranial tumors. We analysed 69 supratentorial meningiomas managed by the Neurosurgical Tumor Group of the Clinics Hospital of Medicine School of São Paulo University (September 1995 to September 1997). Age, sex, edema degree, tumor site, surgical complications and mortality were studied. Edema degree was defined by radiological methods (CT and MRI). Forty-seven patients were women and average age was 58 years. Type II of edema degree was predominant (38.7%). Twenty-nine patients had parasagital meningiomas and 40 presented convexity tumors. Simpson I resection was obtained in 48 procedures, II in 18 and III in two surgical removals. Nine cases complicated (transitory deficits, 6; permanent deficit, 1; and infection, 2). Death occurred in two patients. Morbity and mortality had relation with age, falx tumors and attempt of radical surgical removal. Edema degree did not modify mortality and morbidity rates.

Meningiomas supratentoriais: diagnóstico, resultados cirúrgicos e complicaçöes / Supratentorial meningiomas: clinical evaluation, surgical results and complications

Os meningiomas sao tumores benignos originados de células da aracnóide e representam os tumores intracranianos assintomáticos mais comuns. Estudamos 69 casos de meningiomas supratentoriais operados pelo Grupo de Tumores da Disciplina de Neurocirurgia do Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo no período de setembro-1995 a setembro-1997. Foram analisados idade, sexo, grau de edema, localizaçao, complicaçoes cirúrgicas e mortalidade. O grau de edema foi definido pelos exames de imagem (TC e RNM). A média de idade foi 58 anos; 47 pacientes eram do sexo feminino. Houve discreta predominância (38,7 por cento) de pacientes com edema grau II. Vinte e nove tumores eram parassagitais e 40 de convexidade. Obteve-se grau de ressecçao Simpson I em 48 casos, II em 18 e III em dois (casos com implante em seio sagital pérvio). Complicaçoes ocorreram em 9 casos (déficits transitórios, n=6; déficit permanente, n=1; e infecçoes, n=2). Obito ocorreu em dois pacientes relacionados à idade avançada e a tumores parassagitais, decorrendo de complicaçoes vasculares. A morbi-mortalidade esteve relacionada à idade, a tumores falcinos e à tentativa de ressecçao radical de tumores implantados em seios venosos pérvios. Nao houve correlaçao entre a morbi-mortalidade e o grau de edema.

Meningiomas supratentoriais: estudo de 12 casos / Supratentorial meningiomas: study of 12 cases

Os autores analisaram de forma prospectiva, em um período de seis meses (outubro/94 a abril/95), doze casos de pacientes com meningiomas supratentoriais (parassagitais e de convexidade), todos diagnosticados por tomografia computadorizada (TC), e submetidos a procedimento neurocirúrgico com confirmaçao histopatológica. Concluem que os meningiomas predominam nitidamente no sexo feminino a partir da quinta década, localizando-se, predominantemente, nas fossas anterior e próxima ao seio sagital. Clinicamente predominam a cefaléia e os déficits focais, havendo ainda manifestaçoes epilépticas e/ou demenciais. A evoluçao dos pacientes guarda relaçao direta com o grau de ressecçao e o tamanho da lesao.

Tumores supratentoriales infantiles / Tumors supratentorials in children

Se revisan los tumores del sistema nervioso central (S.N.C) en el lapso comprendido entre 19644-1992 del Hospital de niños de Caracas. La estadística demuestra que en 17 años (1964-80), época pre-tomográfica se trataron quirúrgicaamente 159 casos (9,35 casos anuales). En 12 años (1981-92) se atendieron 341 casos el doble en menos tiempo (28,40 casos por año) gracias a la tomografía. El total de 29 años fue de 510 casos o sea 17,8 casos por año, cifra inferior a la demanda. Supratentorial: 194 casos (38,09 por ciento) e infratentoriales 283 (55,6 por ciento); espinales: 33 (6,47 por ciento). El aspecto tentorial supratentorial fue lo siguiente: Astrocitomas: 52 casos (10 por ciento), craniofaringioma 22 (4,10 por ciento), Ependinomas: 16 (3,13 por ciento), Pinealomas: 12 (2,34 por ciento), Nervio y Quiasma óptico: 12 (2,34 por ciento), Neuroectodérmico primitivo: 10 (1,96 por ciento), Plexo Coroide: 9 (1,76 por ciento), Teratoma: 6 (1,17 por ciento), Glioblastoma multiforme: 4 (0,78 por ciento), Meningioma: 4 (0,78 por ciento), Oligodendroglioma: 3 (0,58 por ciento), Hemangioma: 3 (0,58 por ciento), Sarcoma: 3 (0,58 por ciento), Esponglioblastoma: 1 (0,19 por ciento). Localización: Hemisféricos: 82 (16,04 por ciento), Ventriculares 14 2,74 por ciento. Los postulados oncológicos rigen la conducta quirúrgica de estas lesiones: a) Eliminación de los síntomas, b) Preservación anatómica, c)Reducción al máximo o eliminación de población tumoral, d) Eliminación de tejidos necroticos con células. Toda lesión, no importa su ubicación, debe tener biopsia donde la estereotaxia encuentra su aplicación en lesiones profundas y de tallo cerebral

Refuerzo de la duramadre adyacente a los meningiomas luego de la administración de Gadolinio en RM: sensibilidad y especificidad / Reincenforcement of the dura adjacent to meningiomas after administration of Gd in MRI: sensitivity and specificity

Los autores evalúan el valor de la administración de Gd DTPA en el diagnóstico de meningiomas madiante RM en un estudio restrospectivo sobre 184 pacientes con masas tumorales de diferentes etiologías, de los cuales 14 eran meningiomas confirmados por cirugía. La edad promedio de los pacientes fue de 62.7 años. Los resultados confirman que en estos casos la toma de Gd DTPA en RM de la duramadre en base a la implantación de la masa tumoral, constituye un signo de valor diagnóstico importante, que en esta serie tuvo una sensibilidad y especificidad del 100

Refuerzo de la duramadre adyacente a los meningiomas luego de la administración de Gadolinio en RM: sensibilidad y especificidad / Reincenforcement of the dura adjacent to meningiomas after administration of Gd in MRI: sensitivity and specificity

Los autores evalúan el valor de la administración de Gd DTPA en el diagnóstico de meningiomas madiante RM en un estudio restrospectivo sobre 184 pacientes con masas tumorales de diferentes etiologías, de los cuales 14 eran meningiomas confirmados por cirugía. La edad promedio de los pacientes fue de 62.7 años. Los resultados confirman que en estos casos la toma de Gd DTPA en RM de la duramadre en base a la implantación de la masa tumoral, constituye un signo de valor diagnóstico importante, que en esta serie tuvo una sensibilidad y especificidad del 100

Diagnóstico tomográfico de los tumores endocraneales / Computed tomographic evaluation of brain neoplasms

De 14.386 estudios tomográficos realizados entre enero de 1989 y junio de 1992, 7.146 fueron de cerebro. Dentro de este grupo, 390 pacientes presentaron patología tumoral encefálica. De 130 pacientes se obtuvo confirmación histológica del tumor, correlacinando los datos obtenidos de acuerdo a edad, sexo y localización de la lesión y las variantes histológicas halladas