Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With <i>PHOX2B</i> Non‐Polyalanine Repeat Expansion Mutations

Abstract

Based on histological phenotype, our series suggests that heterozygous PHOX2B NPARM do not fully preclude ganglion cell differentiation in tumors. However, this tumor predisposition syndrome may also be associated with poorly differentiated tumors with unfavorable genomic profiles and clinically aggressive behaviors. The intrafamilial variability and the unpredictable tumor prognosis should be considered in genetic counseling.