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Primary Biphasic Hepatic Sarcoma in DICER1 Syndrome
Sharlene C See1, Nitin R Wadhwani2, Kai Lee Yap2
1Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Summary
DICER1 tumor predisposition syndrome can present with rare liver and lung tumors. This case highlights unusual neoplasms in a patient with a DICER1 germline variant, expanding the known phenotype.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- DICER1 tumor predisposition syndrome is a rare genetic disorder associated with various benign and malignant neoplasms.
- The known phenotype includes pleuropulmonary blastoma, thyroid nodules, cystic nephroma, Wilms tumor, and others.
Observation:
- A patient with a DICER1 germline pathogenic variant presented with two rare tumors.
- The first was a multiloculated cystic hepatic lesion with a biphasic pattern, resembling pleuropulmonary blastoma or cystic nephroma with malignant transformation.
- The second was a chest nodule consistent with low-grade hidradenocarcinoma.
Findings:
- The hepatic lesion showed cysts lined by biliary-type epithelium and a sarcomatous component.
- The chest nodule was diagnosed as low-grade hidradenocarcinoma.
Implications:
- These unusual neoplasms, occurring at a young age, suggest they may be part of the DICER1 tumor predisposition syndrome phenotype.
- This case expands the spectrum of tumors associated with DICER1 germline variants.
- Further research is needed to confirm these associations and understand the underlying mechanisms.
