Article
Pleuropulmonary blastoma (PPB) and other DICER1-associated high-grade malignancies are morphologically, genetically and epigenetically related - A comparative study of 4 PPBs and 6 sarcomas.
Annals of diagnostic pathology - 1 Oct 2022
Hiemcke-Jiwa L S, van Belle S, Eijkelenboom A, Merks J H M, van Noesel M M, Kaal S E J, Pijnenborg J M A, Bulten J, Tops B B J, van de Ven C P, van Gorp J M, de Krijger R R, Cheesman E, Kelsey A M, Kester L A, Flucke U
Abstract excerpt
DICER1-related tumors occur hereditary or sporadically, with high-grade malignancies sharing clinicopathological and (epi)genetic features. We compared 4 pleuropulmonary blastomas (PPBs) and 6 sarcomas by mutation analysis, whole transcriptome sequencing and methylation profiling. 9/10 patients were female. PPB patients were 0-4 years. 3/4 were alive; 2 without disease. One patient died of metastatic disease...
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