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Previously Unreported Somatic Variants in Two Patients with Pleuropulmonary Blastoma with Metastatic Brain Recurrence
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  • Michael Ferguson,
  • Jennifer Ivanovich,
  • Paige Stansell,
  • Terry Vik,
  • Amy Helvie,
  • Morgan Schmitt,
  • Kris Ann Schultz,
  • Louis Dehner,
  • Jamie Renbarger,
  • Mark Marshall
Michael Ferguson
Indiana University, School of Medicine
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Jennifer Ivanovich
Indiana University, School of Medicine
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Paige Stansell
Indiana University, School of Medicine
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Terry Vik
Indiana University School of Medicine
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Amy Helvie
Indiana University Health
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Morgan Schmitt
Indiana University, School of Medicine
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Kris Ann Schultz
University of Minnesota
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Louis Dehner
Washington University in Saint Louis
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Jamie Renbarger
Indiana University School of Medicine
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Mark Marshall
Indiana University, School of Medicine
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Abstract

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.