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IDH2 -Mutated Sinonasal Tumors: A Review
Bayan Alzumaili1, Peter M Sadow
1Departments of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.
Advances in Anatomic Pathology
|December 20, 2022
Summary
IDH2-mutated sinonasal tumors (IST) are a distinct high-grade carcinoma. These tumors, often misclassified, show better outcomes than IDH2 wild-type and SMARCB1-deficient tumors.
Area of Science:
- Oncology
- Pathology
- Genetics
Background:
- Sinonasal malignancies are increasingly subclassified by genetic profiling.
- Distinguishing tumor types by histomorphology alone is challenging.
- IDH2-mutated sinonasal carcinoma (IST) is a high-grade carcinoma associated with IDH2 gene mutations.
Approach:
- Review of 82 reported cases of IST confirmed by molecular or immunohistochemical studies.
- Analysis of histopathologic features, clinical presentation, and molecular alterations.
- Evaluation of treatment, recurrence, metastasis, and survival rates.
Key Points:
- IST commonly occurs in the nasal cavity (81%) with a mean age of 60.
- Histopathologically, IST mimics SNUC, large cell neuroendocrine carcinomas, or poorly differentiated carcinomas.
- Hotspot mutations in IDH2 include R172S (61%), R172T (19%), R172G (7%), and R172M (3%).
Conclusions:
- IST shows high rates of locoregional recurrence (60%) and distant metastasis (40%).
- Survival rates at 1, 3, and 5 years are 83%, 50%, and 43%, respectively.
- IST is associated with better outcomes compared to IDH2 wild-type and SMARCB1-deficient sinonasal tumors.
