DICER1-associated hepatic cystic neoplasm with pleuropulmonary blastoma-like features: a novel clinicopathologic diagnosis

Type I and Ir pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry

“…Twelve children had a history of cystic nephroma, four had a history of Sertoli–Leydig cell tumor, and two each had a history of thyroid nodules and embryonal rhabdomyosarcoma of the uterine cervix. One patient each had a history of thyroid carcinoma, PPB‐like peritoneal sarcoma, 15 DICER1 ‐associated hepatic cystic neoplasm, 21 juvenile hamartomatous polyps, pineoblastoma, partially differentiated nephroblastoma (not centrally reviewed), and ovarian sex cord–stromal tumor, not otherwise specified.…”

Rare and unusual tumours associated with characteristic molecular events: the importance of specialist pathology review

“…21 On the basis of the clinical presentation, imaging studies, disease course, involvement of miRNA disturbance, and pathological features, we felt the most likely diagnosis was mesenchymal hamartoma of the liver. 22 A letter from two senior paediatric pathologists questioned the diagnosis 23 and recently reported hepatic cystic lesions arising in children with DICER1 syndrome 24,25 suggests that this lesion better fits within the spectrum of DICER1-related cystic lesions that can regress or progress, such as pleuropulmonary blastoma and cystic nephroma.…”