DICER1-related brain tumors include pineoblastoma, pituitary blastoma, medulloblastoma, DICER1-associated central nervous system sarcoma as well as the more recently described embryonal tumour with multilayered rosettes (ETMR)-like infantile cerebellar tumors. Each of these are rare. In individuals with pleuropulmonary blastoma (PPB) presenting with concern for a brain tumor, it is also important to consider the possibility of spread from the primary tumor to the brain.
Presenting symptoms depend on tumor location. General symptoms association with DICER1-related brain tumors include:
Pituitary blastoma generally presents in the first two years of life with impaired eye movements, visual changes or signs of hormone production such as Cushing’s disease.
Pineoblastoma may present in children, adolescents or young adults, generally with signs of increased intracranial pressure due to impaired cerebrospinal fluid flow. Individuals with pineoblastoma may have difficulty looking directly upward or may have jumping eye movements called nystagmus.
Brain magnetic resonance imaging (MRI) is generally used to define the location and extent of the tumor. Staging includes brain and spine MRI and cerebrospinal fluid (CSF) cytology examination.
Treatment for DICER1-related brain tumors generally includes surgery and chemotherapy with or without radiation depending on individual circumstances. Please contact the Registry for additional information.
Given the rarity of brain tumors in individuals with DICER1 variation, the role of surveillance imaging by MRI for these tumors among asymptomatic individuals remains controversial. Education regarding signs and symptoms of intracranial tumors (including cortisol excess, increased intracranial pressure, neurologic changes, vomiting, lethargy, etc.) is encouraged, with urgent brain MRI suggested for any individual with new neurologic symptoms. Some families and providers may also opt for routine brain imaging on an individual basis in absence of symptoms.