SERPINB4
Overview
SERPINB4 (Serpin Family B Member 4, also known as SCCA2) is a serine protease inhibitor closely related to SERPINB3 and co-located on chromosome 18q21.3. Like SERPINB3, SERPINB4 has been linked to anti-tumor immune responses and previously associated with response to anti-CTLA-4 therapy in melanoma. Mutations in SERPINB4 are analyzed together with SERPINB3 mutations as a gene pair in immunotherapy biomarker studies.
Alterations observed in the corpus
- Trend toward disease control (5/6 SERPINB3/SERPINB4-mutant patients had CR/PR/SD; p = 0.21, not significant due to small n) in melanoma patients receiving nivolumab; consistent with prior anti-CTLA-4 association reports PMID:29033130.
Cancer types (linked)
- MEL (Melanoma) — SERPINB4 mutations observed in a nivolumab-treated melanoma cohort with a non-significant trend toward disease control PMID:29033130.
Co-occurrence and mutual exclusivity
- Co-analyzed with SERPINB3 as a functionally related gene pair; 5/6 patients mutant for either gene achieved disease control on nivolumab PMID:29033130.
Therapeutic relevance
- SERPINB4 mutations may represent a biomarker for PD-1 blockade response in melanoma, replicating associations previously described for CTLA-4 blockade; cohort size (n=6 mutant patients) insufficient for definitive conclusions PMID:29033130.
Open questions
- Statistical significance not reached (p = 0.21) due to small cohort; larger prospective validation needed to confirm SERPINB4 mutation as a predictive biomarker for checkpoint blockade PMID:29033130.
Sources
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