Ependymoblastoma

Ependymoblastoma is an extremely rare and highly aggressive embryonal tumor of the central nervous system (CNS) that predominantly affects young children, most commonly occurring in infants and children under the age of 5. Historically classified as a distinct entity among primitive neuroectodermal tumors (PNETs), ependymoblastoma is characterized by the presence of ependymoblastic rosettes (multilayered rosettes) within the tumor tissue. It is important to note that in the 2016 WHO Classification of Tumors of the Central Nervous System, ependymoblastoma was reclassified and is now largely considered under the umbrella of "embryonal tumor with multilayered rosettes" (ETMR), which also encompasses medulloepithelioma and embryonal tumor with abundant neuropil and true rosettes (ETANTR). Many ETMR tumors harbor amplification of the C19MC region on chromosome 19q13.42. Ependymoblastoma primarily affects the brain, though it can also arise in the spinal cord. The tumor tends to be large and rapidly growing, often presenting with symptoms of increased intracranial pressure such as headache, vomiting, lethargy, and bulging fontanelle in infants. Seizures, focal neurological deficits, and developmental regression may also occur depending on tumor location. Due to its aggressive nature, the tumor frequently disseminates through the cerebrospinal fluid pathways. The prognosis for ependymoblastoma is generally very poor. Treatment typically involves a combination of surgical resection, chemotherapy, and in some cases radiation therapy, though the young age of most patients limits the use of cranial irradiation due to its devastating effects on the developing brain. Despite multimodal treatment approaches, survival rates remain low, and there is no established standard of care. Clinical trials and novel therapeutic strategies are being explored for embryonal tumors with multilayered rosettes.

Common questions about Ependymoblastoma