MSKCC Adenoid Cystic Carcinoma of the Breast 2015

Overview

Twelve adenoid cystic carcinomas (AdCCs) of the breast — all triple-negative (ER−/PR−/HER2−) — collected from Institut Curie (Paris) and Memorial Sloan Kettering Cancer Center. This dataset was generated as part of the first massively parallel sequencing study of breast AdCC, a rare special-histology subtype comprising ~0.1% of invasive breast cancers. Fresh-frozen and FFPE material was used; histologic grade 1 (58%) or grade 2 (42%).

Composition

  • Cancer types: ACBC (adenoid cystic carcinoma of breast), a special subtype of BRCA.
  • Sample count: 12 tumor–matched normal pairs.
  • Clinical fields: ER/PR/HER2 status (all triple-negative), histologic grade, growth pattern (tubular-cribriform, cribriform, solid), MYB-NFIB fusion status by FISH/RT-PCR.
  • Sequencing: Whole-exome sequencing (Agilent SureSelect Human All Exon v4, Illumina HiSeq 2000); median depth 78× (range 43–129×); mean 88% of target ≥10× coverage. Reference genome GRCh37/hg19.
  • Copy number: VarScan2 and GISTIC2.0; ABSOLUTE for purity/ploidy.
  • Raw data: WES data deposited in NCBI SRA under accession SRP053134.

Assays / panels (linked)

Papers using this cohort

  • PMID:26095796 — Martelotto et al. 2015, “Genomic landscape of adenoid cystic carcinoma of the breast,” J Pathol.

Notable findings derived from this cohort

  • MYB-NFIB fusion detected in 10/12 (83%) breast AdCCs; breast AdCCs show a low somatic mutation rate (0.27 non-silent mutations/Mb), conspicuously lack TP53 and PIK3CA mutations, and share recurrent gene mutations with salivary gland AdCCs (SF3B1, FBXW7, FGFR2, PRKD1) PMID:26095796.
  • Recurrent copy-number losses at 12q12-q14.1 (5/12 cases) and gains at 17q21-q25.1 (3/12 cases); no amplifications or homozygous deletions detected; genomic instability conspicuously lower than common-type triple-negative breast cancers PMID:26095796.

Sources

  • cBioPortal study: acbc_mskcc_2015
  • SRA accession: SRP053134

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