Pleuropulmonary blastoma (PPB) is a rare childhood tumor, often associated with germline DICER1 mutations and a risk for development of other benign and malignant tumors, a constellation termed DICER1 syndrome. A 1-year-old male was diagnosed with Type I PPB and screened regularly thereafter for detection of intrathoracic and intraabdominal disease. Ten months after diagnosis of PPB, he presented with headaches and vomiting. He was diagnosed with atypical choroid plexus papilloma, a lesion not previously reported with PPB. The presence of central nervous system symptoms in patients with PPB or a phenotype suggestive of DICER1 syndrome should prompt early intracranial imaging.
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View Article and Find Full Text PDFWhole genome profiling of rare pediatric thoracic tumors elucidates a YAP1::LEUTX fusion in an unclassified biphasic embryonal neoplasm.
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Article Synopsis
- Malignant biphasic tumors of the lungs are uncommon, particularly in children, and this study focuses on unique cases involving pleuropulmonary blastoma Type III and an unclassified thoracic neoplasm.
- The pleuropulmonary blastoma was found to have significant DICER1 mutations and other gene variants, while the unclassified tumor exhibited a specific genetic translocation leading to a YAP1::LEUTX fusion, which has associations with cancer development.
- This research emphasizes the value of whole-genome analysis in identifying the biological characteristics and potential treatment targets for rare tumors.
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