Intraventricular topotecan in the successful treatment of recurrent CNS pleuropulmonary blastoma

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 o...

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Bibliographic Details
Published in:Pediatric blood & cancer 2022-03, Vol.69 (3), p.e29529-n/a
Main Authors: Shim, Jenny, Reisner, Andrew, Esiashvili, Natia, Rapkin, Louis, Olson, Thomas
Format: Article
Language:English
Subjects:
Case reports
Central nervous system
Central Nervous System - pathology
Child
CNS metastasis
DEAD-box RNA Helicases - genetics
Germ-Line Mutation
Hematology
Humans
intraventricular topotecan
Lung Neoplasms - complications
Lung Neoplasms - drug therapy
Lung Neoplasms - genetics
Mesenchyme
Metastases
Metastasis
Mutation
Oncology
Patients
Pediatrics
Pleura
pleuropulmonary blastoma
Pulmonary Blastoma - drug therapy
Pulmonary Blastoma - genetics
Remission
Ribonuclease III - genetics
Topotecan
Tumors
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Description
Summary: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.
ISSN:1545-5009
1545-5017
DOI:10.1002/pbc.29529