Adenoid Cystic Carcinoma (ACYC)

Overview

Adenoid Cystic Carcinoma is a rare salivary gland cancer (OncoTree mainType: Salivary Gland Cancer; parent SACA).

Cohorts in the corpus

Recurrent alterations

  • Not specifically characterized in this corpus beyond cohort enrollment counts PMID:36862133.
  • WES/WGS of 60 ACYC tumor/normal pairs (MSKCC) found a low somatic mutation rate (0.31 non-silent/Mb), MYB-NFIB translocations in 57%, and pathway-level convergence on chromatin regulators (35%), PI3K/FGF/IGF (30%), and PKA signaling (27%), nominating PI3K inhibitors as candidate therapeutic targets PMID:23685749
  • WES of 24 ACYC tumors (Sanger) identified chromatin-remodeling gene mutations in 50% of cases (ARID1A, CREBBP, KDM6A, SMARCA2 and others), SPEN as a novel cancer gene with truncating mutations enriched in solid histology, NOTCH1/NOTCH2 mutations in 3 cases, and activating FGFR2 mutations in a subset nominating FGFR inhibition as a therapeutic avenue PMID:23778141
  • Multi-institutional molecular profiling of 88 sinonasal adenoid cystic carcinomas identified canonical MYB::NFIB (57%) and MYBL1::NFIB (10%) fusions; NGS of 31 cases found pathogenic mutations most frequently in BCOR (19%), NOTCH1 (14%), and EP300 (14%), with NOTCH1-mutant tumors showing solid/basaloid morphology and poor outcome (2/3 dead of disease) PMID:24418857.
  • Adenoid cystic carcinoma (ACYC) targeted sequencing identified recurrent alterations in chromatin remodeling and NOTCH signaling pathway genes PMID:26631609
  • WGS of 20 ACCs revealed MYB rearrangements in 75% (15/20) acting via enhancer hijacking (not fusion protein) from NFIB, TGFBR3, or RAD51B super-enhancers; BET bromodomain inhibitor JQ1 slowed grade-2 primagraft growth but was inactive against Notch-driven grade-3 tumors; NOTCH1/SPEN activating events present in 7/9 grade-3 ACCs PMID:26829750
  • WGS of 25 ACCs with matched normals found MYB-NFIB fusion in 44%, total NFIB translocations in 60% (five novel partners including MAP3K5, MYBL1); NFIB overexpressed independent of fusion status (p=0.002); recurrent somatic mutations in Rho-family GTPase signaling (44%) and axon-guidance signaling (56%) pathways PMID:26862087
  • In 36 recurrent/metastatic ACYC profiled by MSK-IMPACT (Morris et al.), NOTCH1 was altered in 33% with activating mutations or amplifications in 22.2% (OR 8.3 vs. primary ACYC, P=.005); TERT promoter mutations found in 5/36 (14%) — the first report in salivary cancers; PDGFRA, KDR, and KIT co-amplification in 4 patients PMID:27442865.

Subtypes

  • Not called out in the corpus.

Therapeutic landscape

  • Not specifically reported in this corpus.

Sources

This page was processed by entity-page-writer on 2026-05-14. - PMID:27442865 — Morris et al. 2017 (JAMA Oncol). NOTCH1 enrichment and first TERT promoter mutations in salivary cancer; 36 recurrent/metastatic ACYC.

This page was processed by entity-page-writer on 2026-05-15.