Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations.

Hemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth velocity. Cases of growing HB can cause mild symptoms such as headache, but some cases develop serious complications such as accumulation of cerebrospinal fluid in the brain with secondary neurological damage sometimes being irreversible when early treatment is not started. Our case showed some clinical characteristics more frequently observed in VHL-related HB rather than sporadic HB, and the presence of alterations in MDM2 and EGFR that could be related to the oncogenesis of these tumors. Even when the treatment of choice for HB is surgery, the presence of these genetic alterations could open a new window for research aimed at assessing the possibility of new therapies with TKIs-EGFR and anti-MDM2 inhibitors in those HB cases with multifocal recurrences or cases with an adverse clinical behavior.

[Diagnosis and evaluation of head and neck paragangliomas. Computed tomography and magnetic resonance imaging]. / Diagnóstico y control evolutivo de los paragangliomas cervicocefálicos. Estudios de imagen: tomografía computarizada y resonancia magnética.

Cross-sectional imaging techniques [magnetic resonance imaging (MRI) and computed tomography (CT)] are essential in the presurgical evaluation of paragangliomas. These techniques provide data on tumoral hypervascularity, tumoral margins, invasion of neighboring structures, tumoral multifocality and the presence of metastasis. These imaging techniques are also essential for sequential volume assessment in non-surgical cases, postoperative evaluation and screening of familial forms. MRI is the technique of choice in paraganglioma assessment due to high contrast resolution among tissues, optimizing visualization of tumoral delimitation and the degree of local invasion. In addition, with the new dynamic MR angiography techniques, early contrast uptake can be confirmed, facilitating the diagnostic approach and demonstrating multifocal lesions. CT is required in tympanic paragangliomas and in those involving the skull base due to the efficacy of this technique in the evaluation of middle ear lesions and invasion of the skull base bone structures.

Diagnóstico y control evolutivo de los paragangliomas cervicocefálicos. Estudios de imagen: tomografía computarizada y resonancia magnética / Diagnosis and evaluation of head and neck paragangliomas. Computed tomography and magnetic resonance imaging

Las técnicas de imagen seccionales (resonancia magnética [RM] y tomografía computarizada [TC]) son imprescindibles en el estudio prequirúrgico del paraganglioma (Pg).Aportan datos sobre la naturaleza hipervascular tumoral, los márgenes lesionales, la infiltración de estructuras adyacentes, la multifocalidad tumoral y la presencia de metástasis. También son indispensables para la valoración secuencial volumétrica en los casos no quirúrgicos, controles posquirúrgicos y cribado de las formas familiares. La RM es la técnica de elección en análisis del Pg por su mayor capacidad de resolución de contraste entre tejidos, optimizando la delimitación tumoral y el grado de infiltración local. Por otra parte, con las nuevas técnicas de angio-RM dinámicas se puede confirmar una captación temprana de contraste lesional, favoreciendo la aproximación diagnóstica y demostrando lesiones multifocales. La TC es necesaria en los Pg timpánicos y en los que afectan a la base de cráneo por su eficacia en la evaluación de las lesiones de oído medio y de la infiltración de las estructuras óseas basicraneales (AU)

Cross-sectional imaging techniques [magnetic resonance imaging (MRI) and computed tomography (CT)] are essential in the presurgical evaluation of paragangliomas. These techniques provide data on tumoral hypervascularity, tumoral margins, invasion of neighboring structures, tumoral multifocality and the presence of metastasis. These imaging techniques are also essential for sequential volume assessment in non-surgical cases, postoperative evaluation and screening of familial forms. MRI is the technique ofchoice in paraganglioma assessment due to high contrast resolution among tissues, optimizing visualization of tumoral delimitation and the degree of local invasion. In addition, with the new dynamic MR angiography techniques, early contrast uptake can be confirmed, facilitating the diagnostic approach and demonstrating multifocal lesions. CT is required in tympanic paragangliomas and in those involving the skull base due to the efficacy of this technique in the evaluation of middle ear lesions and invasion of the skull base bone structures (AU)

[Clinical picture of 8th pair schwannoma. Is it expressive enough?]. / Caracterización clínica del schwannoma del VIII par. Son suficientemente expresivos sus síntomas?

OBJECTIVE: To describe the stage-related clinical features of 8th cranial nerve schwannoma. MATERIAL AND METHOD: Descriptive study of 71 patients whose diagnosis and/or treatment have been carried out at our centre between 1997-2003. Gender, age, and symptoms were considered, with special attention to gender. Determination of tumoral stage following Tos and Thomsen image criteria. RESULTS: The mean age was 64.6 (range, 20-87) with a marked incidence between 52 and 70 years (62 % of the whole), slightly higher in females and in the left ear. The main symptoms were those derived from involvement of the 7th and 8th cranial nerves, with other cranial nerves and cerebello-pontine structures being involved in larger tumours, although a high variability was noted in clinical patterns of same-stage cases and in the first symptom. Our study also found a high variability in hearing conservation and a marked frequency of vestibular or facial (motor and sensory) symptoms. There were also very infrequent forms of presentation that are highlighted. CONCLUSIONS: There is no typical clinical pattern and no typical first symptom in 8th cranial nerve schwannomas. Any audiovestibular or facial symptom, even the slightest, may be the first expression of 8th cranial nerve schwannoma. There is no stage-specific symptom except for those with involvement of the cerebello-pontine or cerebral structures.

Caracterización clínica del schwannoma del VIII par. ¿Son suficientemente expresivos sus síntomas? / Clinical picture of 8th pair schwannoma. Is it expressive enough?

Objetivo: Determinar la semiología característica del schwannoma del VIII par craneal en función de su estadio por imagen. Material y método: Estudio descriptivo a partir de 71 sujetos diagnosticados en nuestra consulta o remitidos a nuestro centro para tratamiento entre 1997 y 2003. Se recoge el sexo y la edad, así como los síntomas que presentaba el paciente, diferenciando el síntoma de inicio. Determinación del estadio del tumor según criterios de imagen de la clasificación de Tos y Thomsen. Resultados: La media de edad es de 64,6 (intervalo, 20-87) años. Llama la atención que el tramo de edad entre los 52 y 70 años acumula el 62 % de los casos. La incidencia es levemente mayor en mujeres y en el oído izquierdo. Los síntomas predominantes son los derivados de la afección del VIII y el VII pares craneales, asociándose síntomas por afección de otros pares craneales y del ángulo pontocerebeloso en tumores mayores, aunque existe una enorme variabilidad tanto entre casos del mismo estadio como en la clínica de inicio (first sympthom). Destacamos en nuestro estudio la variabilidad de la preservación de la audición entre los diferentes pacientes y el alto número de casos afectos de clínica vestibular o facial, tanto motriz como sensitiva. Asimismo, hay formas de inicio sorprendentes por su infrecuencia. Conclusiones: No existe patrón clínico típico de comienzo del schwannoma del VIII par. Cualquier síntoma audiovestibular o facial, por sutil que fuere, puede ser la primera expresión clínica de un schwannoma del VIII par. Ningún síntoma es patrimonio de ningún estadio, con la excepción de los propios de la afección de la fosa posterior

Objective: To describe the stage-related clinical features of 8th cranial nerve schwannoma. Material and method: Descriptive study of 71 patients whose diagnosis and/or treatment have been carried out at our centre between 1997-2003. Gender, age, and symptoms were considered, with special attention to gender. Determination of tumoral stage following Tos and Thomsen image criteria. Results: The mean age was 64.6 (range, 20-87) with a marked incidence between 52 and 70 years (62 % of the whole), slightly higher in females and in the left ear. The main symptoms were those derived from involvement of the 7th and 8th cranial nerves, with other cranial nerves and cerebello-pontine structures being involved in larger tumours, although a high variability was noted in clinical patterns of same-stage cases and in the first symptom. Our study also found a high variability in hearing conservation and a marked frequency of vestibular or facial (motor and sensory) symptoms. There were also very infrequent forms of presentation that are highlighted. Conclusions: There is no typical clinical pattern and no typical first symptom in 8th cranial nerve schwannomas. Any audiovestibular or facial symptom, even the slightest, may be the first expression of 8th cranial nerve schwannoma. There is no stage-specific symptom except for those with involvement of the cerebello-pontine or cerebral structures