SOX6

Overview

SOX6 (SRY-Box Transcription Factor 6) is an HMG-box transcription factor involved in chondrogenesis, neuronal differentiation, and oligodendrocyte development. In neuroblastoma, SOX6 marks both the novel postnatal human adrenal progenitor cluster hC1 and the undifferentiated nC3 cluster enriched in high-risk tumors.

Alterations observed in the corpus

• SOX6 is a defining marker gene of the novel postnatal human adrenal progenitor cluster hC1 (FDR <0.01, Welch’s t-test on 1,322 nuclei) and is significantly over-expressed in the undifferentiated nC3 cluster of high-risk neuroblastoma (FDR <0.01). SOX6 is part of the shared progenitor gene program between hC1 and nC3, alongside BCL11A, ERBB3, RTTN, TP63, ASXL3, POU6F2, CLDN11, and DOCK7. PMID:34493726

Cancer types (linked)

• NBL — SOX6 is over-expressed in both the normal postnatal adrenal progenitor hC1 and the undifferentiated nC3 cluster of high-risk neuroblastoma; it belongs to the shared transcriptional identity linking the proposed cell-of-origin to aggressive tumor cells. PMID:34493726

Co-occurrence and mutual exclusivity

• Co-expressed with MYCN, ALK, NTRK2, TP63, USH2A, LGR5, BCL11A in undifferentiated nC3 cells; co-expressed with RTTN, POU6F2, ASXL3 in the hC1/nC3 shared program. PMID:34493726

Therapeutic relevance

• No direct targeted therapy is reported in the corpus for SOX6 in neuroblastoma.

Open questions

• The functional role of SOX6 in maintaining the undifferentiated progenitor state versus promoting mesenchymal identity in neuroblastoma is not resolved. PMID:34493726

Sources

• PMID:34493726

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