The Genetic and Transcriptomic Evolution of Melanoma

The overarching goal of the study was to better understand the evolution of melanoma. To do this, we collected archival tissue of melanomas adjacent to their intact, remnant precursor lesions. We also collected archival tissue of primary melanomas and their matching metastases. From the formalin-fixed paraffin-embedded (FFPE) blocks, we microdissected non-neoplastic (normal), precursor, and descendent portions of tissue. Both RNA and DNA were extracted from the microdissected tissues and subjected to next generation sequencing. In summary, we performed matched DNA/RNA sequencing of melanoma/precursor/normal trios, allowing us to trace the genetic and transcriptomic evolution of melanoma.

• Study Design:
  • Tumor vs. Matched-Normal
• Study Type:
  • Tumor
  • Tumor vs. Matched-Normal
• Total number of consented subjects: 85
• Subject Sample Telemetry Report (SSTR)

• BioProject
• PubMed
• Sequence Read Archive
• BioSample
• MeSH
• Gene

We selected cases of melanocytic neoplasia preferentially spanning multiple stages of progression and for which suitable tissue could be procured for next generation sequencing.

In November of 2015, we published the first portion of this study in which we sequenced melanoma/precursor/normal trios from 37 patients. Subsequently, we have expanded these efforts to cover 85 patients' tumors.

• Primary Phenotype: Melanoma
• Nevus
• Clonal Evolution

• BRAF
• CDKN2A
• TERT

• Principal Investigators
  • Boris C. Bastian, MD, PhD. University of California, San Francisco, CA, USA.
  • A. Hunter Shain, PhD. University of California, San Francisco, CA, USA.
  • Robert L. Judson, PhD. University of California, San Francisco, CA, USA.
• Funding Sources
  • R35 CA220481. National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
  • DP5 OD019787. National Institutes of Health, Bethesda, MD, USA.