Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis

Mod Pathol. 2020 Jul;33(7):1256-1263. doi: 10.1038/s41379-020-0454-y. Epub 2020 Jan 14.

Abstract

Ocular adnexal sebaceous carcinoma (OASeC) is an aggressive eyelid carcinoma. Analysis of molecular-genetic drivers of this disease could reveal new prognostic markers and actionable targets for treatment. To identify somatically acquired genomic mutations in OASeC and explore their associations with metastasis, whole-exome sequencing on DNA extracted from retrospectively collected tumor samples was performed. Thirty-one patients in two orbital oncology centers with OASeC were included. Sequencing results were analyzed to detect mutations and explore their possible association with metastasis. The median patient age was 64 years. A total of 1780 candidate somatic mutations were identified with median mutation rate of 1.0/Mb (range, 0.2-13.6). The five most commonly mutated genes (as determined by MutSig; q value < 0.25) were TP53 (mutated in 22 cases), ZNF750 (13 cases), RB1 (12 cases), NOTCH1 (8 cases), and PCDH15 (5 cases). Mutations in ZNF750 or NOTCH1 pathway genes were present in 24 (77%) of the 31 cases; there was a trend toward mutual exclusivity of ZNF750 and NOTCH1 mutations. All eight tumors with NOTCH1 mutations also had TP53 and/or RB1 mutations. Four of the five PCDH15 mutations and all four PCDH15 missense mutations were identified in patients with metastatic disease, including one patient with distant metastasis and three with nodal metastasis. PCDH15 was significantly associated with metastasis (P = 0.01). We identified the most commonly mutated genes in a series of OASeCs and found a previously unreported mutation in OASeC, PCDH15 mutation, that was significantly associated with metastasis. NOTCH1 mutation is an actionable mutation; clinical trials targeting this mutation are available throughout the US and could be considered for patients with metastatic NOTCH1-mutant OASeC. TP53, ZNF750, RB1, and PCDH15 mutations are most likely loss-of-function mutations and may have diagnostic and prognostic importance.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma, Sebaceous / genetics*
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics*
  • Cadherin Related Proteins
  • Cadherins / genetics*
  • Exome Sequencing
  • Eyelid Neoplasms / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Receptor, Notch1 / genetics
  • Retinoblastoma Binding Proteins / genetics
  • Retrospective Studies
  • Sebaceous Gland Neoplasms / genetics*
  • Transcription Factors / genetics
  • Tumor Suppressor Protein p53 / genetics
  • Tumor Suppressor Proteins
  • Ubiquitin-Protein Ligases / genetics

Substances

  • Biomarkers, Tumor
  • CDHR15, human
  • Cadherin Related Proteins
  • Cadherins
  • NOTCH1 protein, human
  • RB1 protein, human
  • Receptor, Notch1
  • Retinoblastoma Binding Proteins
  • TP53 protein, human
  • Transcription Factors
  • Tumor Suppressor Protein p53
  • Tumor Suppressor Proteins
  • ZNF750 protein, human
  • Ubiquitin-Protein Ligases