To progress or not to progress: new insights into the evolution of pleuropulmonary blastomas come from studying lung cysts in adolescents and adults with DICER1-related tumour predisposition
Publikation: Bidrag til tidsskrift › Leder › Forskning › fagfællebedømt
Almost all cases of pleuropulmonary blastoma (PPB), the most common lung malignancy in childhood, are related to biallelic pathogenic variants in DICER1, a gene encoding an RNase III involved in the biogenesis of micro-RNAs, organogenesis and tumor suppression.1 2 Over 70% of patients with PPB are affected by the pleiotropic DICER1-related tumour susceptibility syndrome caused by heterozygous germline DICER1 loss-of-function variants. After a second somatic DICER1 missense mutation has occurred, these individuals may develop PPB, other tumours and non-neoplastic conditions in the thyroid gland, genitourinary system, and several other extrapulmonary sites.
Originalsprog | Engelsk |
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Artikelnummer | 24221459 |
Tidsskrift | Thorax |
Antal sider | 2 |
ISSN | 0040-6376 |
DOI | |
Status | Accepteret/In press - 2024 |
ID: 392572305