Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma

Nat Commun. 2018 May 14;9(1):1894. doi: 10.1038/s41467-018-04008-y.

Abstract

Sebaceous carcinomas (SeC) are cutaneous malignancies that, in rare cases, metastasize and prove fatal. Here we report whole-exome sequencing on 32 SeC, revealing distinct mutational classes that explain both cancer ontogeny and clinical course. A UV-damage signature predominates in 10/32 samples, while nine show microsatellite instability (MSI) profiles. UV-damage SeC exhibited poorly differentiated, infiltrative histopathology compared to MSI signature SeC (p = 0.003), features previously associated with dissemination. Moreover, UV-damage SeC transcriptomes and anatomic distribution closely resemble those of cutaneous squamous cell carcinomas (SCC), implicating sun-exposed keratinocytes as a cell of origin. Like SCC, this UV-damage subclass harbors a high somatic mutation burden with >50 mutations per Mb, predicting immunotherapeutic response. In contrast, ocular SeC acquires far fewer mutations without a dominant signature, but show frequent truncations in the ZNF750 epidermal differentiation regulator. Our data exemplify how different mutational processes convergently drive histopathologically related but clinically distinct cancers.

Publication types

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

MeSH terms

  • Carcinoma, Squamous Cell / classification
  • Carcinoma, Squamous Cell / diagnosis
  • Carcinoma, Squamous Cell / genetics*
  • Carcinoma, Squamous Cell / pathology
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Exome
  • Exome Sequencing
  • Eye Neoplasms / classification
  • Eye Neoplasms / diagnosis
  • Eye Neoplasms / genetics*
  • Eye Neoplasms / pathology
  • Humans
  • Keratinocytes / metabolism
  • Keratinocytes / pathology
  • Keratinocytes / radiation effects
  • Microsatellite Instability*
  • Microsatellite Repeats
  • Mutation*
  • Sebaceous Gland Neoplasms / classification
  • Sebaceous Gland Neoplasms / diagnosis
  • Sebaceous Gland Neoplasms / genetics*
  • Sebaceous Gland Neoplasms / pathology
  • Skin Neoplasms / classification
  • Skin Neoplasms / diagnosis
  • Skin Neoplasms / etiology
  • Skin Neoplasms / genetics*
  • Terminology as Topic
  • Transcriptome
  • Ultraviolet Rays / adverse effects