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- W2912912467 abstract "Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies associated with DICER1 variants. We present two cases, a 2-year-old girl with upper respiratory tract symptoms as well as a 6-month-old girl sibling undergoing screening due to family history of malignancy. Imaging of the 2-year-old girl revealed a large mass filling the right hemithorax which was determined to be a type II PPB after pathological examination. Imaging of the 6-month-old sibling demonstrated a small cystic lesion in the posterior basal segment of the right lower lobe which was determined to be a type 1r PPB after pathological examination. The 2-year-old girl received adjuvant chemotherapy while the baby sister underwent resection alone and both are alive and well at 12 months and 7 months, respectively. Sequence analysis in both cases confirmed the same DICER1 variation, c.2437-2A>G (likely pathogenic), which has not been previously described in the literature." @default.
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- W2912912467 date "2019-01-01" @default.
- W2912912467 modified "2023-09-26" @default.
- W2912912467 title "Novel intronicDICER1variation associated with pleuropulmonary blastoma in two siblings" @default.
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- W2912912467 doi "https://doi.org/10.1136/bcr-2018-227391" @default.
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