NSD3

Overview

NSD3 (Nuclear receptor SET domain-containing protein 3, also known as WHSC1L1) is a histone methyltransferase that catalyzes H3K36 methylation. It is located at the 8p11-p12 amplicon, a recurrently amplified region in lung squamous cell carcinoma. NSD3 amplification is thought to promote oncogenesis through epigenetic dysregulation of gene expression.

Alterations observed in the corpus

  • Amplification at the 8p11-p12 locus identified as a novel somatic copy-number alteration (SCNA) region in lung squamous cell carcinoma (TCGA, 178 tumors) PMID:22960745

Cancer types (linked)

  • LUSC: Copy-number amplification at 8p11-p12 locus; identified as a novel SCNA driver region PMID:22960745

Co-occurrence and mutual exclusivity

  • Located in the same 8p11-p12 amplicon as FGFR1; co-amplification with FGFR1 has been described in LUSC.

Therapeutic relevance

  • No approved targeted therapy; the 8p11-p12 amplicon including FGFR1 is under investigation as a therapeutic target in LUSC.

Open questions

  • Whether NSD3 itself or FGFR1 is the primary oncogenic driver of the 8p11-p12 amplicon in LUSC requires functional characterization.

Sources

  • PMID:22960745 — TCGA lung squamous cell carcinoma, 178 tumors

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