MLLT11
Overview
MLLT11 (also known as AF1q) is located at chromosomal band 1q21.1 and encodes a transcriptional co-activator involved in hematopoietic differentiation and leukemogenesis. In solid tumors, MLLT11 is recurrently amplified as part of the 1q21 amplicon. In urothelial carcinoma, 1q21 focal amplification encompassing MLLT11 and SETDB1 has been identified as a defining copy-number feature of a genomically distinct tumor cluster.
Alterations observed in the corpus
- Part of the 1q21.1 focal amplification (together with SETDB1) that defines copy-number Cluster B in urothelial carcinoma (UC); amplification enriched in Cluster B vs. other clusters (P=0.0002) PMID:27749842
Cancer types (linked)
- BLCA: 1q21.1 MLLT11/SETDB1 amplification defines a genomic cluster in platinum-treated UC; enriched in post-chemotherapy tumors in the Weill Cornell cohort (n=32 patients, 72 tumors) PMID:27749842
Co-occurrence and mutual exclusivity
- Co-amplified with SETDB1 at the 1q21.1 locus in urothelial carcinoma copy-number Cluster B PMID:27749842
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus.
Open questions
- Whether 1q21 MLLT11/SETDB1 amplification confers distinct clinical behavior or drug sensitivity in UC beyond its use as a copy-number classifier remains unresolved.
Sources
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