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HMGA2 is a highly sensitive marker for DICER1-related tumours
Paul S Thorner1, Anne-Laure Chong2, Naciba Benlimane3
1Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Histopathology
|August 12, 2026
Summary
HMGA2 protein is upregulated in most DICER1-related tumors, suggesting it is an early event in tumor development. HMGA2 immunostaining can help exclude DICER1-related lesions.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- DICER1 gene mutations lead to DICER1-related tumor predisposition (DRTP).
- Pituitary blastomas in DRTP show increased HMGA2 protein levels.
- HMGA2 is a target of let-7 microRNA, involved in cellular processes.
Purpose of the Study:
- To investigate HMGA2 protein expression in various tumors associated with DRTP.
- To determine if HMGA2 upregulation is a common feature across DRTP-related lesions.
Main Methods:
- Immunohistochemistry was used to detect HMGA2 protein expression.
- Seventy-eight lesions from patients with confirmed DICER1 pathogenic variants (PVs) were analyzed.
- Normal control tissues were used for comparison.
Main Results:
- HMGA2 nuclear staining was observed in nearly all studied DICER1-related lesions (98% excluding thyroid).
- All tumor types, including benign and malignant, showed HMGA2 positivity.
- Normal tissues were uniformly negative for HMGA2.
Conclusions:
- Widespread HMGA2 expression in DICER1-related lesions indicates an early role in pathogenesis.
- Overexpressed HMGA2 may drive epithelial-to-mesenchymal transition in these tumors.
- HMGA2 immunostaining can serve as an exclusion test for germline DICER1 testing.
