Introduction
A recent research using genome-wide DNA methylation analysis by Sturm et al. highlighted that embryonal tumors of the central nervous system (CNS), formerly called CNS-primitive neuroectodermal tumors (PNET), consisted of various types of tumors including a number of novel tumor entitiessuch as BCOR -altered high-grade neuroepithelial tumors1). Considering the clinical and molecular heterogeneities, performing genetic and epigenetic analysis has become essential to reveal the molecular background of the tumor and establish a “true” diagnosis in patients with CNS embryonal tumors, not otherwise specified (NOS).
Herein, we report a case of an isolated cerebellar pontine angular embryonal tumor associated with Cowden syndrome in an infant. This report highlights the clinical importance of molecular and genetic diagnostic approaches accompanied by conventional pathological and radiological techniques for establishing accurate diagnosis to enable effective treatment of patients with embryonal CNS tumors based on underlying genetic/epigenetic conditions.