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.

Utilidad del coeficiente de difusión aparente en resonancia magnética como método auxiliar para la diferenciación entre meduloblastomas y ependimomas de la fosa craneal posterior en niños y adultos tratados en el Hospital Carlos Van Buren de Valparaíso: Una experiencia preliminar / Usefulness of apparent diffusion coefficient in magnetic resonance as an auxiliary method for the differentiation between medulloblastomas and ependymomas of the posterior cranial fossa in children and adults treated at the Carlos Van Buren Hospital in Valparaíso: A preliminary experience

The use of the apparent diffusion coefficient (ADC) in magnetic resonance imaging (MRI) has been shown to be useful in the task of differentiating primary brain tumors. Our objective is to evaluate its use to differentiate between medulloblastomas and ependymomas. We analyzed 37 cases: 21 medulloblastomas (average age 12 years) and 16 ependymomas (average age 5 years) of the posterior fossa treated at the Carlos Van Buren Hospital in Valparaíso between december 2005 and June 2015. There were 15 and 5 males in each group respectively. In addition to age and gender, ADC values of tumors (ADCt) and healthy tissue were collected. The ADCt values for medulloblastoma and ependymoma averaged 0.64 and 0.92 [x10-3 mm²/s] respectively (p< 0.001). The multivariate model included gender and ADCt, with a sensitivity of 0.95 and a specificity of 0.87 to predict medulloblastoma. We can conclude that ADC measurement helps differentiate tumors of different cellularity such as medulloblastoma and ependymoma.

El uso del coeficiente de difusión aparente (ADC) en resonancia magnética (RM) ha demostrado ser útil en la tarea de diferenciar tumores cerebrales primarios. Nuestro objetivo es evaluar su uso para diferenciar entre meduloblastomas y ependimomas. Se analizaron 37 casos: 21 meduloblastomas (edad promedio 12 años) y 16 ependimomas (edad promedio 5 años) de fosa posterior tratados en el hospital Carlos Van Buren de Valparaíso, entre diciembre de 2005 y junio de 2015. Hubo 15 y 5 hombres en cada grupo respectivamente. Además de edad y sexo se recolectaron valores ADC tumorales (ADCt) y de tejido sano. Los valores ADCt para meduloblastoma y ependimoma promediaron 0,64 y 0,92 [x 10-3 mm²/s] respectivamente (p<0,001). El modelo multivariado incluyó sexo y ADCt, con sensibilidad de 0,95 y especificidad 0,87 para predecir meduloblastoma. Podemos concluir que la medición de ADC ayuda a diferenciar tumores de distinta celularidad como el meduloblastoma y el ependimoma.