Making Sense of the Expanding Molecular Toolbox for Skin Cancer Diagnosis-Melanocytic Update: Impact of Next Generation Sequencing on Diagnosis of melanocytic neoplasms

Melanocytic Update: Impact of Next Generation Sequencing on Diagnosis of melanocytic neoplasms

Video Transcription

Video Summary

Dr. Padram Gourami discusses the impact of next-generation sequencing on diagnosing melanocytic neoplasms, particularly focusing on spitz neoplasms. Through sequencing studies, chimeric fusion proteins were identified as the main drivers of spitz neoplasms, aiding in defining spitz neoplasms genomically. Differentiation was made between spitz neoplasms with fusion genes and those with activating point mutations like BRAF or NRAS. The study revealed a higher occurrence of genomic rearrangements in spitz tumors than initially reported. The diverse classifications of spitz melanoma showcased a need for refinement. Analyzing survival data, true genomic spitz cases showed better prognoses, emphasizing the importance of distinguishing spitz mimickers. The findings were published in the JID, highlighting the importance of accurate genomic definitions in identifying and managing melanocytic neoplasms.

Asset Subtitle

Pedram Gerami, MD

Keywords

next-generation sequencing

melanocytic neoplasms

spitz neoplasms

chimeric fusion proteins

genomic rearrangements

prognoses