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.