Intraventricular topotecan in the successful treatment of recurrent CNS pleuropulmonary blastoma

Pediatr Blood Cancer. 2022 Mar;69(3):e29529. doi: 10.1002/pbc.29529. Epub 2021 Dec 16.

Abstract

Pleuropulmonary blastoma (PPB) is a rare pediatric tumor of the pleura and pulmonary mesenchyme, associated with pathogenic germline DICER1 mutations. Although the most common site of metastasis is the central nervous system (CNS), patients with CNS metastasis have dismal outcome. We report a case of a patient presenting with type II PPB and intracranial and bone metastases. We describe a multimodal therapy approach and highlight the use of intraventricular topotecan for isolated CNS recurrence. In addition, a new pathogenic germline mutation heterozygous for the c.1234delT of DICER1 was identified. Patient remains in remission 3 years after recurrence.

Keywords: CNS metastasis; intraventricular topotecan; pleuropulmonary blastoma.

Publication types

  • Case Reports

MeSH terms

  • Central Nervous System / pathology
  • Child
  • DEAD-box RNA Helicases / genetics
  • Germ-Line Mutation
  • Humans
  • Lung Neoplasms* / complications
  • Lung Neoplasms* / drug therapy
  • Lung Neoplasms* / genetics
  • Pulmonary Blastoma* / drug therapy
  • Pulmonary Blastoma* / genetics
  • Ribonuclease III / genetics
  • Topotecan

Substances

  • Topotecan
  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases

Supplementary concepts

  • Pleuropulmonary blastoma