Primary Biphasic Hepatic Sarcoma in DICER1 Syndrome

Sharlene C. See, Nitin R. Wadhwani, Kai Lee Yap, Nicoleta C. Arva*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


DICER1 tumor predisposition syndrome is a rare genetic disorder that predisposes individuals to multiple benign and malignant neoplasms. The phenotype is vast and includes pleuropulmonary blastoma (PPB), thyroid nodules, cystic nephroma, Wilms tumor, ovarian Sertoli–Leydig cell tumor, and medulloepithelioma, among others. Herein, we describe a patient with a DICER1 germline pathogenic variant presenting with two neoplasms that are not commonly encountered in the context of DICER1 syndrome. The first tumor is a multiloculated cystic hepatic lesion with a biphasic pattern, composed of cysts lined by bland biliary type (CK19-positive) epithelium surrounded by a condensation of sarcomatous spindled cell proliferation in a myxoid stroma. This neoplasm resembled PPB or cystic nephroma with malignant transformation. The second tumor is a chest nodule consistent with low-grade hidradenocarcinoma. Although it is difficult to speculate with just a single case, these unusual neoplasms occurring in particular at a young age raises the possibility that they can be inherent to, and thus, be part of the DICER1 tumor predisposition syndrome phenotype.

Original languageEnglish (US)
Pages (from-to)484-488
Number of pages5
JournalPediatric and Developmental Pathology
Issue number5
StatePublished - Sep 2021


  • DICER1
  • hepatic cyst
  • hidradenocarcinoma
  • hidradenoma
  • phenotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine


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