SIN3B – Esthesioneuroblastoma

Recent genomic analyses in olfactory neuroblastoma have identified a somatic mutation in SIN3B, detected in a metastatic lesion but absent in the primary tumor sample (PMID:22649506). This mutation, exemplified by the reported variant c.123A>T (p.Lys41Asn), suggests that alterations in SIN3B might be acquired during disease progression, thereby contributing to tumor evolution. Although the genetic finding is based on a single proband (PMID:22649506), it raises a signal for further investigation, particularly given the established importance of somatic mutations in oncogenesis.

Complementary functional studies have demonstrated that SIN3B is involved in transcriptional repression and modulation of sodium channel expression, processes which could influence cancer cell behavior (PMID:24077057; PMID:15935060). These experimental data provide moderate evidence supporting a functional role for SIN3B in the context of esthesioneuroblastoma. In summary, while the current gene-disease association is limited by the number of probands, the integration of genetic data with functional insights supports its potential clinical utility in diagnostic decision‑making, commercial applications, and future research.

References

• PloS One • 2012 • Paired tumor and normal whole genome sequencing of metastatic olfactory neuroblastoma PMID:22649506
• Scientific Reports • 2013 • Interaction between the transcriptional corepressor Sin3B and voltage-gated sodium channels modulates functional channel expression PMID:24077057
• Journal of Neurochemistry • 2005 • Myt1 family recruits histone deacetylase to regulate neural transcription PMID:15935060

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