BCL11A

Overview

BCL11A is a zinc-finger transcription factor with roles in lymphocyte development, hematopoiesis, and neurogenesis. In neuroblastoma, it is a component of the progenitor gene program shared between high-risk tumor cells and a postnatal human adrenal progenitor population.

Alterations observed in the corpus

• BCL11A is part of the progenitor/migratory gene program shared between the normal postnatal human adrenal progenitor cluster (hC1) and the undifferentiated high-risk neuroblastoma cluster (nC3), alongside ASXL3, ERBB3, RTTN, TP63, POU6F2, SOX6, CLDN11, and DOCK7; confirmed as significantly over-expressed in nC3 at FDR < 0.01 by Welch’s t-test PMID:34493726.

Cancer types (linked)

• Neuroblastoma (NBL) — BCL11A marks the high-risk undifferentiated nC3 cluster enriched for MYCN-amplified and/or 11q-deleted genotypes; its nC3 over-expression was confirmed by FDR < 0.01 Welch’s t-test across 11 single-nuclei tumor specimens PMID:34493726.

Co-occurrence and mutual exclusivity

• Co-expressed with ASXL3, CLDN11, NTRK2, ALK, and MYCN in the hC1/nC3 high-risk progenitor program; mutually exclusive with the noradrenergic NTRK1-high low-risk clusters PMID:34493726.

Therapeutic relevance

• Not directly therapeutically targeted in the corpus; identified as a transcriptional marker of the high-risk neuroblastoma cell identity PMID:34493726.

Open questions

• Whether BCL11A directly regulates the undifferentiated state of nC3 cells or serves as a co-expressed marker of a shared progenitor origin is not functionally tested in the corpus.

Sources

• PMID:34493726

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