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Previously unreported somatic variants in two patients with pleuropulmonary blastoma with metastatic brain recurrence

Year: 2020
Type: article
Study design: Case Report
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.
Language: English
Subfield: Surgery
Field: Medicine
Open Access status: green
OpenAlex ID: W3109051029
FWCI:
Cites: 32
Cited by: 2
Related to: 10