Diagnostic utility of EWSR1 in hyalinizing clear cell carcinoma: a systematic review and meta-analysis.
Akanksha Gupta, Anju Devi, Adarsh Kumar et al.
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In 30 seconds
This PRISMA-guided systematic review and meta-analysis assessed EWSR1 rearrangements as diagnostic markers for hyalinizing clear cell carcinoma (HCCC), a rare salivary gland tumour. Fourteen studies included 174 HCCC cases. EWSR1 rearrangements were detected by FISH in 86.7% (137/158) of tested cases, compared with 57.1% (8/14) by RT-PCR; EWSR1-ATF1 fusion was confirmed in 38 cases. The pooled analysis showed high heterogeneity (I² = 90.98%). Against 144 controls, HCCC had a 2.16-fold higher likelihood of EWSR1 positivity, but this difference was not statistically significant (p = 0.10).
Key findings
- FISH detected EWSR1 rearrangements in 86.7% (137/158) of tested HCCC cases; RT-PCR detected them in 57.1% (8/14).
- EWSR1-ATF1 fusion was confirmed in 38 cases.
- Compared with 144 controls, HCCC showed a 2.16-fold higher likelihood of EWSR1 positivity, a difference that was not statistically significant (p = 0.10).
- Pooled results had high heterogeneity (I² = 90.98%).
Why it matters
HCCC can resemble other clear cell neoplasms of the head and neck on morphology and immunohistochemistry. The review indicates that EWSR1 testing—particularly assessment for EWSR1-ATF1 fusion—can add molecular evidence to the diagnostic work-up. However, the non-significant comparison with controls and substantial heterogeneity mean that molecular findings should be interpreted alongside histopathology and immunohistochemistry.
What to keep in mind
The pooled analysis had high heterogeneity (I² = 90.98%), and the comparison with controls was not statistically significant (p = 0.10).