Adenoid Cystic Carcinoma — MD Anderson 2015

Overview

Whole-genome sequencing of 21 salivary adenoid cystic carcinoma (ACC; ACYC) tumors from MD Anderson Cancer Center (1981–2011), with FISH/RT-PCR validation extended to 81 additional tumors (total n=102). The study was designed to characterize the genetic landscape of t(6;9)-negative ACCs lacking the canonical MYB-NFIB fusion. WGS was performed on the Complete Genomics cPAL platform aligned to NCBI Build 37 (hg19).

Composition

  • Test set (n=21): WGS-profiled; 9 t(6;9)-positive (6 with confirmed MYB-NFIB fusion), 12 t(6;9)-negative.
  • Validation set (n=81): 45 t(6;9)-positive, 36 t(6;9)-negative; characterized by FISH, RT-PCR, and Sanger sequencing.
  • Cancer type: ACYC (adenoid cystic carcinoma — salivary gland).
  • Expression profiling: Illumina HumanHT-12 V4 microarrays (ArrayExpress E-MTAB-1397) on a subset.

Assays / panels (linked)

Papers using this cohort

  • PMID:26631609 — Mitani et al. 2016, “Novel MYBL1 gene rearrangements with recurrent MYBL1-NFIB fusions in salivary adenoid cystic carcinomas lacking t(6;9) translocations,” Clinical Cancer Research.

Notable findings derived from this cohort

  • MYBL1-NFIB fusions (t(8;9) translocation) identified in 12% of the full 102-tumor cohort; all MYBL1 alterations (including MYBL1-YTHDF3 fusions and MYBL1 truncations) account for 17% of cases PMID:26631609.
  • Among t(6;9)-negative cases (n=48), MYBL1-NFIB fusions represent 25% (12/48), establishing a second major fusion driver in ACC PMID:26631609.
  • MYB and MYBL1 expression are mutually exclusive across the cohort; both fusion types delete the C-terminal negative regulatory domain of their respective transcription factors PMID:26631609.
  • MYB alterations associated with recurrence, metastasis (P = 0.042), and shorter survival vs MYBL1-altered tumors (P = 0.010, log-rank) PMID:26631609.
  • 5’-NFIB fusions to non-MYB/MYBL1 partners (XRCC4, PTPRD/NKAIN2, AIG1) found in a subset of t(6;9)-positive/MYB-NFIB-negative tumors; all had high MYB expression driven by upstream genomic rearrangements PMID:26631609.

Sources

  • PMID:26631609
  • ArrayExpress: E-MTAB-1397 (expression microarrays)

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