Previously Unreported Somatic Variants in Two Patients with
Pleuropulmonary Blastoma with Metastatic Brain Recurrence
Pleuropulmonary blastoma (PPB) is the most common primary lung tumor of
childhood and is associated with somatic or germline DICER1 variants.
Recurrent PPB, especially with brain metastases, are difficult to treat
and survival is poor. Comprehensive genomic analyses of PPB have been
limited in number and depth. The cases presented here identified
additional oncogenic drivers from tumor sequencing that could be
modulating tumor progression and response to therapy outside of known
DICER1 mutations highlighting the need for upfront genomic analysis on
all patients with PPB.