Table 1 Tumor genomic next generation sequencing (NGS) study reveals mutations in several genes, including somatic mutations in genes mutated in the sebaceous carcinoma COSMIC dataset (in bold)
From: Near complete response to Pembrolizumab in microsatellite-stable metastatic sebaceous carcinoma
Gene | Alteration | Subcellular localization | Pathway |
|---|---|---|---|
LRP1B | G3156C, Q1125* | Plasma membrane | Receptor mediated endocytosis |
CCND1 | S41L | Nucleus; cytosol | Cyclin D1, cell cycle |
TET2 | P174H | Nucleoplasm | DNA demethylation |
TP53 | rearrangement, del exon 10-11 | Nucleoplasm | DNA repair |
FANCA | A816V, R685S | Nucleus | DNA repair |
FGF6 | A63T | Extracellular | Growth factor |
MYST3 | Q1681_Q1684del | Nucleolus; cytosol | Histone acetyltransferase (HAT) |
KRAS | G12C | Cytosol | MAPK signalling |
RBM10 | F173fs*7 | Nucleus | mRNA splicing |
MET | amplification | Plasma membrane | Receptor tyrosine kinase |
FGFR3 | I539del | Endoplasmic reticulum | Receptor tyrosine kinase |
FLT4 | K520E, R658W | Nucleus; plasma membrane | Receptor tyrosine kinase |
ROS1 | N692H | Vesicles | Receptor tyrosine kinase |
TERT | -124C>T | Nucleoplasm | Telomerase |
WT1 | R471S | Nucleoplasm | WT1 Transcription Factor |
MYC | L435F | Nucleoplasm | MYC Transcription Factor |
ZNF703 | G406R | Nucleus | Transcriptional co-repressor |
c11orf30 | C1211S | Nucleoplasm | Trascriptional Repressor |
FLCN | R320Q | Nucleus; cytosol | Tumor suppressor |
TNFAIP3 | R706Q | Cytosol | Ubiquitination |