Cervical Pleuropulmonary Blastoma-like Tumor Associated With DICER1 and TP53 Mutations

We describe a very unusual cervical tumor in a 12-yr-old patient with a clinical history indicative of DICER1 syndrome. Morphologic, immunohistochemical, and molecular genetic analysis together helped to diagnose this lesion as a cervical pleuropulmonary blastoma-like tumor, associated with TP53 and DICER1 mutations. The tumor displayed usual histologic features including mixtures of embryonal rhabdomyosarcoma, sarcomatous cartilage, compact blastema, primitive spindle cells and anaplasia, akin to type III pleuropulmonary blastoma, and trabecular and retiform patterns. In addition to expanding the phenotypic spectrum of DICER1-associated conditions, we draw attention to genotype-phenotype correlations in DICER1-associated tumors, particularly as they relate to the discovery of a heritable tumor predisposition syndrome.